Archive for the ‘Genetic Testing’ Category

SAN FRANCISCO, March 10, 2020 /PRNewswire/ --The global hereditary testing marketsize is expected to reach USD 8.9 billion by 2026, expanding at a CAGR of 6.3% over the forecast period, according to a new report by Grand View Research, Inc. Key factors driving the market are declining cost of sequencing and availability of genetic tests at a lower price. Furthermore, the availability of niche and fragmented point-solutions across genomics value chain, namely sequencing, analytics, interpretation, aggregation, and marketplace, is anticipated to propel the market growth over the forecast period.

Key suggestions from the report:

Read 276 page research report with ToC on "Hereditary Testing Market Size, Share & Trends Analysis Report By Disease Type (Hereditary Cancer Testing, Hereditary Non-cancer Testing), By Region (North America, Europe, APAC, LATAM, MEA), And Segment Forecasts, 2020 - 2026" at: https://www.grandviewresearch.com/industry-analysis/hereditary-testing-market

The advent of direct-to-consumer genetics is anticipated to play a major role in the genetic testing market by enabling individuals to carry out self-testing. This expands the role of genetic counselors, which further aids in understanding the importance of genetic tests and helps in the selection of appropriate tests. A growing number of registered genetic counselors is anticipated to boost the adoption of hereditary genetic tests in the coming years.

Technology developers are introducing advanced products to enhance the efficiency of genetic tests by diagnostic companies. For example, in June 2019, QIAGEN launched a new QIAseq Expanded Carrier Screening Panel, a novel Next-generation Sequencing (NGS) panel integrated with advanced bioinformatics solutions for rare and inherited diseases testing. Such ongoing developments in the market space are expected to boost revenue growth to a large extent in the coming years.

Grand View Research has segmented the global hereditary testing market on the basis of disease type and region:

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About Grand View Research

Grand View Research, U.S.-based market research and consulting company, provides syndicated as well as customized research reports and consulting services. Registered in California and headquartered in San Francisco, the company comprises over 425 analysts and consultants, adding more than 1200 market research reports to its vast database each year. These reports offer in-depth analysis on 46 industries across 25 major countries worldwide. With the help of an interactive market intelligence platform, Grand View Research helps Fortune 500 companies and renowned academic institutes understand the global and regional business environment and gauge the opportunities that lie ahead.

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Hereditary Testing Market Size Worth $8.9 Billion by 2026 | CAGR: 6.3%: Grand View Research, Inc. - Benzinga

Dr. Zsofia Stadler, a co-director of the CCFs annual EAOCRC Summit, discussed hereditary risks for colorectal cancer, and how primary care physicians play a role in documenting family history.

BY Kristie L. Kahl and Zsofia Stadler

Transcript:

Kristie L. Kahl: What are family risks associated with colorectal cancer, including Lynch syndrome?

Zsofia Stadler: For colon cancer, we know that in the United States, every individual has about a 5% lifetime risk of developing colon cancer. If you have a family history of one first-degree family relative, so that would be a parent or sibling with colon cancer, that risk increases two-fold, or a 10% lifetime risk of colon cancer. Certainly, family history is an important risk factor. In Lynch syndrome, which is the most common hereditary colon cancer predisposition syndrome, the lifetime risk for colon cancer is up to 70%.

So, its a very high risk of colon cancer. In addition to colorectal cancer, these patients are also at risk for a variety of other cancers, including women for endometrial cancer, ovarian cancer; men and women for gastric cancer, urothelial cancer, pancreas cancer. Its really a pan-cancer syndrome.

Kristie L. Kahl: Why do you think we dont talk about Lynch syndrome as much?

Zsofia Stadler: We are certainly trying to get the word out there. There are many organizations, like the Colon Cancer Foundation, that are trying to get the word out about Lynch syndrome. Interestingly, Lynch syndrome is quite common.

Its estimated that approximately 1 in 300 individuals have a Lynch syndrome, but its not as well tested for as BRCA1 and BRCA2, probably because we have known about BRCA1 and BRCA2 genes for a little bit longer and we have just started to appreciate how common Lynch syndrome really is in the population. So, I think its time to get the word out there about colon cancer risk and Lynch syndrome.

Kristie L. Kahl: How can we help to raise more awareness around this?

Zsofia Stadler: There are many different organizations that are raising more awareness. AliveNKicking is one of them. Weve worked a lot with the Romeo Milio Lynch Syndrome Foundation as well, the Colon Cancer Foundation. I think that it is extremely important.

Its also important for medical geneticists to get the word to primary care physicians. By the time the patients present to the colorectal surgeon or the medical oncologists, or even to the gastroenterologist, during their colon cancer diagnosis, its too late. And usually in the setting of Lynch syndrome, there is some family history of colorectal cancer or endometrial cancer. So, if we could engage the primary care physicians to recognize Lynch syndrome as a warning sign that maybe these patients need to be referred to for genetic testing, that would be wonderful.

Kristie L. Kahl: What role does the genetic counselor play with all of this?

Zsofia Stadler: Genetic counselors are specifically trained to talk to patients about genetic testing for genetic predisposition syndromes, and they provide counseling in the pre-genetic test appointment. Then they provide the genetic testing and give recommendations after genetic testing, including what kind of surveillance or risk-reducing surgeries a patient should undergo.

Moreover, they also help to identify at risk family members who also need genetic testing. So, they are able to provide the counseling and interpret the test results and engage other family members as well.

Kristie L. Kahl: Who should go to a genetic counselor?

Zsofia Stadler: Right now, we recommend that all patients who have a diagnosis of colorectal cancer have at least their tumor tested for markers of Lynch syndrome. This can be done with two different tests an immunohistochemical stain or a microsatellite instability tumor testing. If either one of those is positive or abnormal, then those patients automatically need genetic testing.

In addition, patients who have very early onset colon cancer should be evaluated, or those with a personal or family history of polyps that lead to very high risk of colorectal cancer.

Kristie L. Kahl: How can we help families to have these conversations?

Zsofia Stadler: Its very interesting because in the medical genetics field, especially in older generations, talking about cancer is a little bit taboo. No one wants to talk about it. Oftentimes, patients and families dont know what types of cancer grandma had, and thats especially true with the gynecologic malignancies.

They would say, she had a female cancer, but that could be ovarian, uterine or cervix, and whichever it is, that implicates different potential etiologies. Its very important that families talk about not just the fact that someone had cancer in the family, but what kind of cancer they had. At what age were they diagnosed? Because colon cancer at age 85 or 40 are very different in terms of genetic risks.

Kristie L. Kahl: If we start these conversations earlier, how can that reflect on diagnosing earlier?

Zsofia Stadler: If everyone realizes that even having one first-degree relative with colon cancer at age 60 or under, all of those individuals need colonoscopies starting at age 40. So, sometimes what happens is the primary care physicians dont even start to talk about colon cancer risk until age 50, at which time they usually start colonoscopy screening. But in some individuals, if the primary care physician was aware of the family history then they may have initiated colonoscopies sooner, or if they were aware of the polyp history.

Kristie L. Kahl: How can we help to educate primary care physicians?

Zsofia Stadler: One of the most important parts that a primary care physician can play is to take an accurate family history questionnaire. This is a relatively accurate and easy tool to implement and there have been efforts to use a tool that goes into the EMR and estimates the risk, which would be wonderful. The data shows that primary care physicians are pretty good at asking about parents. Where the primary care physicians get a little bit less exact is second-degree family history, including grandparents, aunts, uncles and even siblings, they dont ask about that.

Also, family histories are dynamic. So, if you take a family history to the initial appointment with your primary care physician, it needs to be updated over time. So, patients need to know if there is a new diagnosis in the family, they have to inform their primary care physicians. But at the same time, the primary care physicians should be asking the patient once in a while, Is there anything new going on in your family? Has anyone been diagnosed with cancer? Because sometimes, these family histories change, and you could uncover a genetic predisposition syndrome.

Kristie L. Kahl: What is your biggest piece of advice for someone who thinks theyre at risk for colorectal cancer?

Zsofia Stadler: Talking first to your primary care physician, see if you need to see a genetic counselor for genetic testing. I think thats the first step. If you dont have a primary care physician, you can also reach out to a genetic counselor and see if you meet guidelines or criteria for genetic testing.

Transcription edited for clarity.

Read the rest here:
All in the Family: Talking About Hereditary Risks for Colorectal Cancer - Curetoday.com

Maverick Coltin seemed like any other newborn when he first came home from the hospital, wearing his beanie cap with bear ears and blue-and-gray onesie and following the typical around-the-clock cycle of sleeping and breastfeeding. But within a couple of days, his parents noticed something was off. At 6 days old, Maverick completely stopped feeding. His arms and legs would stiffen and then release, the spasms punctuated by his cries.

His parents rushed him to Rady Childrens Hospital in San Diego, where EEG monitors recorded that he was having as many as 30 seizures an hour. Doctors scrambled to find the cause. Anti-seizure medicines didnt work, so he was sedated to stop the damage to his brain. His organs started to fail, and his skin turned a dusky blue. His mother, Kara Coltin, walked into his empty nursery at home and cried.

So when doctors from Radys Institute for Genomic Medicine asked for permission to sequence Mavericks genome as part of a clinical trial of ultra-rapid sequencing for newborns who are critically ill from an unknown cause, Mavericks parents didnt hesitate. The doctors cautioned that they couldnt guarantee that they would pinpoint a genetic disorder or, if they did, that it could be treated. They gave the standard caveat about genetic testingthat identifying a genetic disorder could affect Mavericks eligibility for life insurance someday. But even if the sequencing didnt help him, his participation would contribute to a study that could benefit other babies. Obviously, the pros outweighed the cons manyfold, his mother says. We just wanted his pain to stop.

Within 36 hours, the Coltins had an answer: Maverick has pyridoxine-dependent epilepsy, caused by a rare mutation of the ALDH7A1 gene, which codes for the enzyme antiquitin. By giving him high doses of vitamin B6 and controlling a couple of amino acids in his diet, doctors stopped the seizures. Maverick, now 2 years old, runs around like a normal, rambunctious toddler. He has hit all his developmental milestones, although they have been somewhat delayed. He hasnt had a seizure since his treatment began. Every once in a while, I think back on him being dusky blue and super skinny and hooked up to all these tubes, says Kara Coltin. I look at him and its hard to believe that happened to him. People who see him on a normal basis would never know he was ever sick.

The technology that saved Mavericks life stretched the limits of bioinformatics, returning results far sooner than is typical for genetic testing. Rapid sequencing typically takes about seven days for a preliminary diagnosis, while Rady completes ultra-rapid sequencing in three days or less. (In 2018, Rady set a Guinness World Record by sequencing a babys genome in 20 hours and 10 minutes.)

But now ultra-rapid sequencing is moving from an investigational tool to a standard of care. Blue Shield of California is the first insurer to cover rapid and ultra-rapid sequencing of babies and children who have life-threatening and unexplained medical conditions. Since the new policy began in July 2019, 28 babies or children in California have received the testing through Blue Shield, which is just beginning to promote the new coverage.

Blue Shield expects that 250 to 500 newborns will be eligible for the whole genome sequencing each year, which represents about 10 percent of their insured babies treated in neonatal intensive care units in California. Company executive vice president Terry Gilliland said he will encourage other Blue Cross and Blue Shield plans around the country to adopt a similar policy. When you think about all the pain and suffering families go through with sick babies, this is going to be an enormous benefit, he says.

Read more here:
Ultra-Fast Genome Sequencing Could Save the Lives of Newborns - WIRED

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Cambridge Analytica has become a household name, synonymous with invasion of privacy. Its controversial entanglement with Facebook was a wake-up call about how we share information online. Of course, Cambridge Analytica is gone now, and Mark Zuckerberg has survived so far. But the fallout for Facebook feels never-ending: the initial stock drop, the congressional testimony, a record-breaking $5 billion fine from the Federal Trade Commission, a class-action suit approved by a federal judge,1 and another uncomfortable grilling in Congress.

The Facebook scandal is a cautionary tale for executives and consumers alike. But the lesson is much bigger than one about so-called fake news. The hasty reconstruction of value chains around new technologies is introducing and exacerbating ethical concerns across industries. Its a free-for-all race as companies compete to impress users with new capabilities, and whats at stake isnt just which ones survive but whether we are able to sustain a civilized society or end up in a high-tech Wild West.

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Facebook ushered in a new era of publishing by building the worlds largest content creation and distribution network, amassing billions of users. It invited content makers and advertisers to subsidize those users on a platform that many people feel they cant live without. No longer was the media value chain being orchestrated by a few large organizations; Facebook was opening up markets by enabling anyone with a keyboard and an internet connection to effortlessly plug into the worlds largest distribution system. In effect, Facebook broke apart the media value chain and simultaneously re-created it around the companys application programming interfaces (APIs).

But as Facebook helped transform an industry ecosystem, it didnt concern itself with editorial ethics. It sold access to its user base to companies like Cambridge Analytica while maintaining distance from anything posted on its own platform. Content creators could tap into end-user data to precisely target their messaging, whether the information they were putting out was false, misleading, or true. Driven by demand from billions of users, Facebook focused only on ensuring that the content on its network amassed clicks.

In this new world of publishing where authors, editors, and distributors are separate entities pursuing their own interests the scandalous consequences may seem predictable. After all, accountability also splinters with the rest of the value chain. But when no one steps up to maintain ethical standards across the system, we all suffer in the end.

Facebook is just one example of the evolving and murky world of self-defining ethics in technology. In this article, we argue that as technological systems rapidly restructure, ethical dilemmas will become more common and that well-understood theories can help us predict when and where problems may arise. Executives across industries find it enticing to democratize access to cumbersome markets like health care, lending, and publishing. But if youre the executive who happens to decouple consumer protection from mortgage lending, all the positive intentions in the world wont protect you from the unavoidable backlash.

Bottom line: Predicting where your industry will stumble within this new world can make the difference in ensuring your business flourishes with its reputation intact.

To be clear, this is not about a few software bugs resulting from a move fast and break things mentality. This is about leaders, acting in the best interest of markets and consumers, enabled by the ubiquity of the internet, who unintentionally sidestep the ethical protections that underpin society as we know it. To understand the imminent ethical crisis and why current circumstances are so different, we need to understand how value chains emerge and why even responsible technology companies may overlook their ethical obligations.

In 2001, Clayton Christensen, Michael Raynor, and Matthew Verlinden published a lauded article in Harvard Business Review, Skate to Where the Money Will Be.2 It explained what they called the Theory of Interdependence and Modularity. The theory holds that when new technologies emerge, they tend to be tightly integrated in their design because dependence among components exists across the entire system. To combat this fragility, one entity must take tight control of the systems overall design to ensure performance.

Consider the early iPhone. Apple controlled the software, hardware, and even the network to give users the best experience. There was one size, one browser, and one carrier. Features were eliminated to support battery life, capacitive touch, and call quality. In Christensens language, the designs interdependence was critical, as the phone itself struggled with basic performance issues related to its core function of voice communication. Only Apples unequivocal control made the product reasonably competitive.

Christensen and coauthors argued that, over time, the connections among different parts of complex systems become well understood. Each elements role is defined. Standards are developed. To use Christensens term, the industry becomes modular, and an array of companies can optimize and commercialize small, specific components with no meaningful impact on overall system performance. Todays iPhone consumers can choose their screen size and phone thickness, the app store is filled with tools and games from millions of different developers, and phones are available on any network. An entire smartphone industry now exists whereby consumers can pick and choose practically everything about their phones, and the software on them, to meet their individual needs.

For any new technology industry, modularization is the end state; it benefits consumers and grows the pie. Since one company no longer needs to take responsibility for the entire system, every company is free to focus on whichever elements they deem to be strategically advantageous. Christensen, Raynor, and Verlinden counseled companies to anticipate how their markets would become modular and to compete in the places most difficult to master. In the smartphone arena, chipset makers and mobile app companies gobble up all the profit in the system as they tackle the most differentiated parts of it. Playing off a famous hockey tip from Wayne Gretzky in their HBR article title, the authors coached strategists to head to where the money will be, not where it is today.

But modularization is a double-edged sword: The disaggregation of development responsibility also means the diffusion of responsibility for ethical outcomes.

And todays reality is that modularization is accelerating across industries. The internet standardized communication, architecture, and information exchange in every function, allowing new businesses to turn a profit by perfecting ever-more-narrow slices of a value chain.

Consider Lyft. When the company went public in March 2019, its filings recognized the riskthat it relied on critical third parties for payments, financing, web infrastructure, background checks, and other significant technology components.It isa massively successfulbusiness, but many of its core processes are delivered through the combined servicesof other vendors. Wed expect similar risks to be identified in the filings of almost every outgoing IPO.

The rise of companies focused on simple components of complex systems has created a virtual la carte menu from which would-be disrupters can tailor new, complex products according to customer demands. The result: a virtuous cycle that has caused a whirlwind reconstruction of value chains in every industry.

In our increasingly modular world, companies can quickly tailor products to user demands; innovation and opportunity flourish, but so do the potential risks not just to a companys bottom line and reputation but also to society at large. Innovation might be able to move with lightning speed, but our user protections do not.

The danger of trusting the pull of user demand to shape an industry is that users short-term desires dont always account for long-term societal needs. Think of the personal choice of smoking versus its secondhand effects on other people, or the short-term savings of not carrying personal health insurance versus the long-term impact on public health, or the convenience of driving your own car to work versus the societal benefit of public transportation. In many situations, a user makes a choice and society bears the burden of it.

Now lets expand this dilemma to a uniquely modern one. Imagine youre a parent who wants to educate your child about technology, given the increasing need for young people to understand engineering concepts and have some familiarity with design. You purchase a cheap 3D printer and use it to impart lessons around technology, software, and manufacturing processes. Youve brought into your home an amazing tool but also a potentially dangerous one.

For context, 3D printing (or additive manufacturing) is the process whereby a physical object is constructed using a 3D computer model and a standard machine that extrudes material to build the object, often layer by layer. These machines are extremely affordable for small-batch productions relative to the manufacturing equipment weve relied on until now. Most 3D printers cant yet create objects at the speed required for commercial scale, but flexibility was designed into their architectures from the beginning. Whereas the injection-mold manufacturing used in the last paradigm required specialized configuration, 3D printers are designed to enable someone to make almost any design a reality.

Today, 3D-printable items already range from the mundane, like plastic trinkets, to life-changing, like affordable housing. The first airplane with a 3D-printed part took flight in 2014. And the worlds first 3D-printed heart was announced in April 2019. Simply put, 3D printing will democratize the production of anything.

On its face, this is amazing. Imagine completely eliminating the organ-transplant waiting list or not having to run to a hardware store when you need a nail. Its no wonder that hundreds of thousands of households have already invested in 3D printers. The world of home-printing critical goods is imminent.

Unfortunately, putting a modular manufacturing device in every household drives the same type of value-chain disruption that Facebook enabled with its publishing API. Customers are no longer beholden to the large companies that also were responsible for producing and distributing products. Instead, any amateur designer can use inexpensive computer design software to create models for production and then distribute their designs to millions of eager consumers by leveraging distribution networks of 3D-printer makers. With a simple download, end users can now fire them off to 3D printers.

Such modularization in manufacturing allows us to bypass the controls that have existed for generations in supply chains, regulated industries, and intellectual property. Relatively benign examples abound: Your child wants a new action figure do you pay for it or just print an illegal replica? Much more serious, what if your driving-age teen puts a faulty home-printed part in your car? Even worse, consider firearms. Gun regulations vary across countries and U.S. states, but they do exist and many are enforced at the point of sale: What types of arms and ammunition can be sold and to whom? If anyone can download a model from the internet and print a weapon at home, much of our approach to gun control will be rendered moot.

Of course, most consumers bringing desktop 3D printers into their homes simply wish to take advantage of the flexibility of the new systems, not to forecast every potential use and failure of them. Users pull technology into their lives to scratch an itch: Facebook to entertain themselves and socialize, Lyft to get from point A to point B, 3D printers to educate their kids or get simple tasks done faster. Consumers dont (and shouldnt) be responsible for thinking about the implications of introducing new systems on the back of modular innovations.

As executives, if we rely on users to guide our ethical responsibilities, we are destined to be at best reactive and, at worst, too late to chart the right course.

Luckily, if you believe that the internet will continue to enable rapid modularization in every industry, there are clear ways to navigate this compelling future.

Around the time the news feeds debuted, Anne Wojcickis 23andMe began offering direct-to-consumer DNA testing: Simply spit in a vial, and 23andMe would analyze more than 600,000 genetic markers to send you information about your health risks and ancestry. Time named it the Best Invention of 2008 for pioneering retail genomics. And it was possible only because of the modularization in intellectual property related to genomics and gains in cloud computing that enabled high-volume storage, search, and processing. Of course, this modularization also created ethical gray areas.

Beyond empowering individuals with easy access to their health indicators, Wojcicki maintained a vision to accelerate and simplify medical research. The cost and time required to bring new treatments to market could be slashed with access to a sufficiently large, diverse database of consenting participants. Its easy to get caught up in the extraordinary possibilities. Its harder to consider tough questions about things like test validity, unexpected parentage discoveries, and the role of primary care providers in understanding results. Its tougher still to imagine all the new ways that access to this information might upend our existing social systems: What are your obligations to report a genetic marker for a disease to your health insurer? Can health insurers buy access to this information? What access should law enforcement have? What if you choose not to participate but your information can be easily inferred from that of a relative? And whos responsible for considering all of these questions and others?

Ownership and accountability are messy in the age of modularity.

Considering all possible societal implications is a big ask for people merely curious about their ancestry. And consumer genetic testing falls somewhere between the Centers for Medicare and Medicaid Services regulations of clinical research (consumer DNA testing is not a clinical trial) and the Food and Drug Administrations regulations of drugs, biological products, and medical devices (the FDA now lumps consumer genetic tests in with medical devices).

Wojcicki spoke about this topic for four consecutive years at Stanfords Graduate School of Business. Her take is that, despite its challenges, trust is still crucial to keeping the health care system functioning. Therefore, if individuals couldnt contemplate the wide-ranging effects, and if regulators couldnt keep up with the breadth and pace of change, Wojcicki had to take responsibility to deliver that trust. Borrowing a proven concept from the existing health industry, she engaged an independent institutional review board to serve as ethical adviser on all of 23andMes activities.

The fact is, 23andMes data can be used for earth-changing research and, at the same time, have unexpected destructive effects. Skipping the middlemen of primary care providers in ordering genetic tests or of clinical research organizations in collecting data is not a question of morality but of how we as a society maximize the benefits while controlling costs. Pertinent applications of 23andMes data will be debated, probably for years, before something like public consensus develops.

Weve already seen that modularity enables businesses to quickly scale to entire populations, after discovering and delivering what users want and that this speed shortcuts our long-standing approaches to public scrutiny. By seeking out third-party advisers to review the use of their data, Wojcicki has created a countervailing power to represent the societal viewpoint, just as any traditional research institution would maintain.

In redefining the way we access medical information and participate in research, direct-to-consumer genetic testing is another area where modular innovations could fail us without thoughtful action. The FDA, and certainly an individual consumer, cannot possibly consider all the positive and negative implications of merely spitting in a cup. The companies that find enormous value in this act must take on some of the ethical onus, as 23andMe has set out to do.

Christensen et al.s Theory of Interdependence and Modularity is a powerful explanation of how value chains evolve and of the influence of consumer demand. As value chains split apart, innovators can reassemble them in response to customers desires, in ways that take advantage of new technological options. Executives who embrace these changes should also seek to conscientiously address the often less-than-obvious ethical issues that arise. We suggest three courses of action:

1. Assume you become the standard bearer. Most innovators are comfortable playing on the margin. As disrupters who embrace modularity come up from below, its easy for them to point to traditional businesses and refer to their ability to fulfill complex needs in the market. But success as a disrupter should come with a sense of obligation to change the paradigm, particularly when the upstart turns into the dominant platform. So instead of focusing only on the outcomes of your initial attack, work backward. Assume you become dominant. Then ask what is most likely to break, what can be done to prevent breaks, and how to handle them when they occur.

2. Document the safeguards that would have prevented such failure in the current system. Borrow a page from lean process improvement and start by mapping the complete value chain for the service youre providing as it existed before your company arrived. Next, chart out the future state in which youre dominant. Chances are, youve created an efficiency by removing or reducing the scope of some step. Learn the history of how this step evolved, and consider the safeguards ingrained within it: Are they regulatory? Are they related to standards? Are they social constructs? Consider the protections inherent in restricted access: What education or training did those with access have? If it helps, imagine how a horde of naive teenagers might misuse or misunderstand your service. Definitely contemplate how it may be used by malicious actors. Safeguards have protected consumers as well as the market. Know them, and plan for how they will be addressed in the future state.

3. Identify who is responsible for delivering these capabilities. In some cases, it will be crystal clear: Ride-share services could not survive without trust in drivers, so Lyft and Uber must ensure background checks are done, even if they dont conduct them directly. In other cases, it wont be obvious: Are 3D printers just a platform facilitating exchange between model designers and consumers? Leaders need to anticipate that theyll be held accountable for the failures of the changes they usher in.

To put these recommendations into practice, its important to assume success, understand the gaps, and take responsibility for the future that will be created. The particulars of implementation will vary by industry and company, of course. But we believe strongly that these three actions are key to recognizing where ethical uncertainties may arise from modularity and how to responsibly navigate that change.

The model for the Liberator, a 3D-printable plastic gun, was downloaded more than 100,000 times before a federal judge blocked the posting of 3D gun blueprints online.3 Lucky for us all, not every household has a 3D printer; the printed parts have to be meticulously assembled; and, even when built correctly, the gun produced is unreliable (its just as likely to misfire on its owner as on the intended target). In time, these complications will be worked out. But that also means theres time for regulators to plan for the obvious threat.

In other arenas, we should be more concerned. Industries such as lending, media, employment, and health care as we know them have evolved over the course of decades; their protections were sometimes hard-won and sometimes inherent in the very nature of the previous operators or target audiences. Faster than ever, disrupters and large corporations alike are reforming these value chains to take advantage of blazing-fast transfer of information, the application of artificial intelligence, and the creation of marketplaces and networks that distribute low-margin work. Its optimistic and reckless to assume that the existing protections will automatically port over to the newly modular systems.

Strict compliance with the laws, while crucial, is also insufficient to avoid the ethical pitfalls. In a piece for CNN Business, the former COO of Cambridge Analytica, Julian Wheatland, reflected on the scandal: Cambridge Analytica made many mistakes on the path to notoriety. But its biggest mistake was believing that complying with government regulations was enough and thereby ignoring broader questions of data ethics and public perception.4

Lesson: The only rational solution is to embrace new ethical paradigms in a thoughtful way. Every executive should imagine the future that is bound to arrive and consider both the path toward consumer delight and the systemic protections that will be required.

Max Wessel (@maxwellelliot) is chief innovation officer at SAP, responsible for technology research and product incubation efforts. Nicole Helmer (@nikkihelmer) is a decision scientist at SAP, working at the intersection of customer experience, emerging technologies, and new product development.

1. J. Stempel, Judge Lets Facebook Privacy Class Action Proceed, Calls Companys Views So Wrong, Reuters, Sept. 9, 2019, http://www.reuters.com.

2. Building on a theory popularized by Kim B. Clark: C.M. Christensen, M.E. Raynor, and M. Verlinden, Skate to Where the Money Will Be, Harvard Business Review 79, no. 10 (November 2001): 72-83.

3. C. Domonoske, Federal Judge Extends Order Blocking 3D Gun Blueprints From Internet, NPR, Aug. 27, 2018, http://www.npr.org.

4. J. Wheatland, I Was a Top Executive at Cambridge Analytica. It Taught Me a Tough Lesson About Public Trust, Perspectives, CNN Business, Aug. 19, 2019, http://www.cnn.com.

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A Crisis of Ethics in Technology Innovation - MIT Sloan

One of the biggest barriers to applying precision medicine to clinical trials and patient engagement is getting different digital health systems to talk to each other.

Seqster is one company tackling such issues of interoperability, and its CEO and co-founder Ardy Arianpour joined the pharmaphorum podcast to discuss how it applies a person-centric approach to empowering patients.

The San Diego-based tech start-ups research portal gathers patient data, such as electronic health records, genetic information and fitness results from wearables, to improve the way health data can be shared.

Its an aim thats high on the agenda of bodies such as the Centers for Medicare and and Medicaid Services (CMS) and the office of the National Coordinator for Health Information Technology (ONC) in the US, whose new interoperability rules have just been finalised.

Seqsters research portal currently connects users to over 3,000 healthcare providers and more than 100,000 hospitals and clinics in the US, giving patients a way to manage all their health data from one mobile app.

The firm recently secured strategic investment from Takeda Pharmaceuticals, via its Takeda Digital Ventures arm. The pharma company has said it wants Seqster to be a cornerstone of its digital health strategy, and Ardy also talked about what the deal involves.

A biotech and digital health entrepreneur, heplayed an instrumental role in expanding genetic testing access with the launch of BRCA testing and was a key player in the 2013 landmark SCOTUS decision scrapping gene patents.

Prior to starting Seqster,Ardylaunched several clinical and consumer-based genetic tests as CCO of Pathway Genomics and served as SVP of Ambry Genetics, which was sold to Konica in 2017 for $1 billion.

You can listen to episode 18 of thepharmaphorum podcastin the player below, download the episode to your computer or find it and subscribe to the rest of the series in iTunes, Spotify, acast and Stitcher.

Digital health and interoperability: the pharmaphorum podcast

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Digital health and interoperability: the pharmaphorum podcast - - pharmaphorum

New Jersey, United States,- The Preimplantation Genetic Testing Market is well prepared, focusing on the competitive landscape, geographic growth, segmentation and market dynamics, including drivers, constraints and opportunities. It highlights key production, sales and consumption trends so players can improve their sales and growth in the Preimplantation Genetic Testing Market. It offers a detailed analysis of the competition and the leading companies in the Preimplantation Genetic Testing Market. Here it focuses on the latest developments, sales, market values, production, gross margin and other important factors in the business of top players operating in the Preimplantation Genetic Testing Market.

Global Preimplantation Genetic Testing Market was valued at USD 306.16 million in 2016 and is projected to reach USD 701.49 million by 2025, growing at a CAGR of 9.65% from 2017 to 2025.

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The various contributors to the value chain in the Preimplantation Genetic Testing Market include manufacturers:

With a comprehensive quantitative and qualitative analysis, the report offers an encyclopedic and accurate research study on important aspects of the Preimplantation Genetic Testing Market. It shows key factors that influence the growth of various segments and regions in the Preimplantation Genetic Testing Market. It also offers SWOT, Porters Five Forces and PESTLE analyzes to thoroughly examine the Preimplantation Genetic Testing Market. It contains a detailed study of manufacturing costs, upstream and downstream buyers, dealers, marketing strategies and development trends for marketing channels in the Preimplantation Genetic Testing Market. It also provides strategic advice and recommendations for players to ensure success in the Preimplantation Genetic Testing Market.

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Table of Contents:

Overview: The report begins with an overview of the Preimplantation Genetic Testing Market, in which the authors discuss the scope of the products, type and application segments as well as the regional markets. This section also contains highlights of the market size analysis.

Competition by manufacturers: Here, the analysts give the production share, the share of sales and the average price of the manufacturers for the reporting period 2014-2019. Readers are also provided with details on products, areas served and production facilities by manufacturers. This section contains another chapter that highlights various competitive situations and trends.

Share of production by region: This section shows the gross margin, price, production and revenue of all regional markets examined in the report.

Key players: Each player profiled in the report is rated for market growth based on served markets, core business, price, sales, gross margin, production, manufacturing locations, served areas and other factors.

Production cost analysis: It includes the analysis of the main raw materials, the analysis of the production cost structure, the analysis of the manufacturing process and the analysis of the industrial chain.

Market forecast: It includes the price and trend forecast, the sales and growth rate forecast and the forecast of the production growth rate of the global and regional markets for the forecast period 2019-2026.

Finally, the Preimplantation Genetic Testing Market offers a general conclusion of research and the feasibility of investing in new projects is assessed. The Preimplantation Genetic Testing Market is a valuable guide for individuals and companies interested in selling the market.

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Preimplantation Genetic Testing Market to See Major Growth By 2026 - Monroe Scoop

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Last week, the global number of confirmed cases of novel coronavirus or COVID-19 crossed 110,000 in over 100 countries, with a significant number of new cases emerging in South Korea, Iran and Europe. Concern over the extent of the pandemic has already affected both the worlds financial markets as well as the economy. Although India has been relatively less affected so far with only 43 confirmed cases as of 9 March it is too early in the international disease cycle to relax. China managed to contain the spread by enacting a cordon sanitaire around lakhs of people, using authoritarian measures that might be hard to implement elsewhere in the world. So, the global outbreak could get a lot worse, and if it does, we will certainly be affected.

That is why Indiaand the Narendra Modi governmentmust take a national approach tomanagethe risks of a COVID-19 epidemic in India. Such an approach would not only pull together all government departments and institutions, but also involve the private sector and civil society. (Disclosure: A member of my immediate family works for a private genetic testing firm.)

It is important to say this because thus far, the task of addressing theCOVID-19 has been delegated exclusively to the government. Almost all activities, from airlifting Indian nationals, screening arrivals at airports, testing samples, quarantining and treatment are carried out by the government. While this will be effective if the number of cases remainsinthe current order of magnitude, the governments facilities alone will not be sufficient if the number of cases rises 100timesor more.

The good news is that India has a private healthcare sector and R&D capability that can be used in the fight. The bad news is that were not letting them.

If weevenhave a fewlakh suspectedcases, the governments resources will fall short of what is required. The right time to think about the capacity required to handle such a massive crisis is now. The single most important thing for India to have a national response as opposed to a government response is to enable the private healthcare ecosystem to play an appropriate role to complement the governments efforts wherever possible.

Also read: Improve surveillance, screen pneumonia cases how experts want India to fight coronavirus

One of the most critical areas where private capability should be harnessed is in screening and testing. The greater our success in detectingCOVID-19 cases early, the greater our ability to contain the outbreak. Faster testing means fewer people in unnecessary quarantine, lower load on hospitals and faster contact tracing.

Currently, there are52governmentlaboratoriesin ICMRs Virus Research & Diagnostic Laboratories (VRDLs) that are equipped to carry outCOVID-19tests. Another 57 VRDL network labs are authorised to collect samples through state government health authorities. All of these operate under the aegis of the National Institute of Virology (NIV), Pune. As of6March, a total of 4058 samples from 3404 individuals have been tested by the network. The ICMR-NIV-VRDL network has the capacity to handle perhaps a 10X increase in the number of samples and is bound to have procured test kits to handle such a load.

Currently,private laboratories are not permitted to test forCOVID-19. In anticipation of a greater surge, theModigovernment must enable the most reliable private players to conduct suchtests as well. There are 53 private laboratories in India accredited by the College of American Pathologists (CAP) and hundreds more by the National Accreditation Board for Testing and Calibration Laboratories (NABL). Some of Indias best private laboratories can be carefully selected by the respective state governmentsbased on their technical capabilities, biosafety levels, quality standards and track records.

We can double the number of test facilities in a few precious weeks, and increase it even more over a longer period. Many private laboratories already offer commercial testing for other viral diseases, so with incremental effort,they can test forCOVID-19 too. This will also create incentives for private Indian companies with R&D capabilities to consider developing test kits for COVID-19,which currentlyhave to be imported from China and Europe. It is in Indias strategic interest to be able to develop probes, reagents and test kits for the current and future viral epidemics.

Also read: With centre-state political standoff, can coronavirus outbreak be effectively fought?

In addition to mandating standards and safety levels, ICMR must insist on compulsory and real-time reporting of samples and test results so that the government authorities have a single database to workwith. There should be no expectation of government funding or subsidy, just as there is no case forthegovernment to intervene in the pricing of these tests.

As the number of cases crossed 400 last week, the United States not only permitted private laboratories to performCOVID-19 tests, but alsochanged policyto enable laboratories to use tests they develop faster in order to achieve more rapid testing capacity in the United States. Canada has distinguished itself byanopen approach decentralising and opening up testing from the very outset. These are prudent and responsible responses to a feared escalation ofapublic health emergency. India with greater vulnerabilities and weaker public health systems should take a similar approach.

The author is the director of the Takshashila Institution, an independent centre for research and education in public policy. Views are personal

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India can fight COVID-19, but only if the private sector is allowed to step in quickly - ThePrint

Not everyone diagnosed with long-QT syndrome (LQTS) needs to take beta blockers to cut their risk for sudden death, despite guidelines that recommend all such patients be given the drugs, say researchers based on their retrospective cohort study.

Such patients who are judged to be at exceptionally low risk from their LQTS and who want to avoid the often oppressive side effects of beta blockers can safely follow an "intentional nontherapy" strategy, the authors conclude.

The approach avoids the use of beta blockers, which the guidelines call for even in those with genetically confirmed LQTS but who are asymptomatic and whose electrocardiograms are normal.

The nontherapy also excludes implantable cardioverter defibrillators (ICDs) and denervation surgery for LQTS but maintains standard precautions, such as avoidance of QT-interval-prolonging medications.

"We are certainly overtreating this entity overall. Way too many ICDs are being put into too many long-QT patients whose risk is nominally low," Michael J. Ackerman, MD, PhD, Mayo Clinic, Rochester, Minnesota, told theheart.org | Medscape Cardiology.

"Maybe some of our long-QT patients don't need any intentional therapy," he said. "If you have somebody who's at extraordinarily low risk, and you're confident in your low-risk forecast, maybe they don't need a beta blocker."

Ackerman is senior author on the report, which was published February 24 in Heart Rhythm. The lead author is Ciorsti J. MacIntyre MD, Dalhousie University, Halifax, Canada.

"Patients themselves should not make the leap to think that they can come off beta blockers. They really have to talk to a physician who knows and is comfortable dealing with long-QT-syndrome patients," Mark S. Link, MD, told theheart.org | Medscape Cardiology.

"The thing to get across from the study, and to make sure everyone knows, is that this is a very highly selected group of long-QT patients that came off beta blockers because of perceived low-risk status," said Link, of the University of Texas Southwestern Medical Center, Dallas, who isn't associated with the current report.

Importantly, Ackerman and the report emphasize, a decision to follow the intentional nontherapy strategy calls for shared decision making after "detailed risk assessment and patient education."

But whether to take beta blockers can be a quality-of-life dilemma for many patients who have indications, Ackerman observed. Given that that the drugs are recommended universally for patients who are identified as having LQTS, "You can take a very low-risk person who never had a disease symptom and now give them a new disease called, 'I feel lousy every single day of my life.' "

In the current analysis, which Ackerman likens to a "progress report" on the strategy, 55 such patients with LQTS but no history of symptoms were intentionally not treated with beta blockers, device therapy, or surgery.

They represented 8.3% of a total of 661 patients with clinically or genetically diagnosed LQTS seen over a 17-year period at a major center. In that subgroup, there were no LQTS-triggered cardiac events or cardiac deaths over a mean follow-up of 7.5 years, the investigators reports. Even among the remaining 606 patients, there was only one death.

Among the intentionally nontreated patients, QTc intervals averaged 448 ms. On genetic testing, 85.5% of these patients tested positive for a form of LQT, and 73% had a family history of LQTS.

None in the nontreated group had symptoms; by comparison, 32% of those who took beta blockers had symptoms. For the nontreated group, resting QTc intervals averaged 448 ms, vs 469 ms for the treated group (P < .001).

Most of the nontreated patients in the analysis had started on beta blockers, "hated it, then moved to intentional nontherapy," Ackerman said.

But these days, "if we've sized up their risk forecast to be incredibly low, then we are slowly becoming supportive of not even starting beta-blocker therapy," he said.

Link pointed to limitations of the analysis. For example, there were only 55 patients in the beta-blocker nontherapy group, "and when you consider the risk of a long-QT patient having an event, it's pretty low over a 2- or 3- or 4-year time period, even over a lifetime if they are a low-risk LQTS patient," he said.

"It's a small number of patients and relatively small follow-up compared to a lifetime risk," Link said. A longer follow-up might have shown more events in the beta-blocker nontherapy group, he said, so "to say there's no risk I think would be stretching it based on the data from this study."

Ackerman said his center's LQTS program has now had over 1300 patients, compared to fewer than 700 covered by the analysis. About 10% of them were selected for intentional nontherapy after discussion with the patient and family, he said. For perspective, "I think a similar percentage of patients probably deserve aggressive ICD therapy."

The hypothetical patient he would be "most confident about moving to nontreatment," Ackerman said, might be an asymptomatic man with type-1 LQTS who is found to be genotype positive by cascade screening after age 40 and whose QTc interval is <440 ms. "That man, by everything we know about the disease, is as close to a zero-risk host that we know of."

Ackerman has consulted for Audentes Therapeutics, Biotronik, Boston Scientific, Daiichi Sankyo, Gilead Sciences, Invitae, Medtronic, MyoKardia, and St. Jude Medical and, along with his institution, has a licensing agreement with AliveCor. MacIntyre has received honoraria or speaker fees from Abbott and Medtronic. The other authors and Link have disclosed no relevant financial relationships.

Heart Rhythm. Published online February 20, 2020. Abstract

Follow Steve Stiles on Twitter: @SteveStiles2. For more from theheart.org | Medscape Cardiology, follow us on Twitter and Facebook.

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Going Off Beta Blockers as an Option in Selected Low-Risk LQTS - Medscape

When Emma Hodcroft read that, seemingly out of nowhere, a rash of cases of the novel coronavirus had popped up in Britain in late January, she started collecting media reports on them, searching the articles for clues as to how it had moved to the island nation. Early reports suggested that a lone traveler from Singapore, who was unaware he was infected with virus, had visited a French chalet for a few days and had spread the virus to others at the ski resort. This intrigued Hodcroft, who is half British and a postdoctoral researcher in evolutionary biologist Richard Nehers lab at the University of Basel in Switzerland, where she uses genetics to study and track diseases. She took notes on the cases that were associated with the infected traveler. At first, there wasnt that much information and the story was simple, she tells The Scientist. But more and more cases kept appearing, and she found it hard to keep track of who had traveled to which country and when they were diagnosed.

Hodcroft decided to generate an infographic showing the connections between the traveler from Singapore and the other coronavirus cases emerging in Europe. I thought, Ill make an image and see if anyone else finds this useful, she says. She posted the image on Twitter, and somewhat unexpectedly, it got a lot of attention, she says. People were definitely really, really interested in this. So I kept that image updated over the next week or so. As she updated it, the graphic showed that at least 21 people were exposed to the virus at the ski resort the traveler from Singapore visited; 13 of those people ended up developing COVID-19, the disease caused by the virus. After shed finished the preliminary work, a colleague of Hodcroft saw it and suggested she write it up for publication. She posted the paper on February 26; the next day it appeared in Swiss Medical Weekly.

Hodcroft talked with The Scientist about the work, how its conclusions have been supported by genetic testing of viral strains from patients, and what it tells us about the spread of the virus, SARS-CoV-2, in other countries.

Emma Hodcroft: Firstly, that it seems like so many people [at least 13] could be infected by a single person. It seems like they were infected by the man who traveled from Singapore. So thats quite a lot of forward transmission on his part in a fairly short time period; he was only in France for about four days. Of course, this could be some unusual event that doesnt normally happen, but it lets us put an outer bound on what is possible even if it is not common.

The other thing thats surprising is that, according to the patient statement that he released, the focal patient never had any symptoms. In his own words, he never felt sick. So he did all of this transmission without ever having any indication that he was unwell or that he should be taking any precautions to modify his behavior. It tells us that some infections might be from people who never even know that theyre sick.

Text continues below infographic

Contact tracing showing the spread of SARS-CoV-2 in a particular cluster of patients in Europe.

EH: As far as we can tell, no one from this cluster had severe symptoms. It seems like some people did have some symptoms, but they were never serious. And thats also interesting because it shows that if we didn't know about this outbreak, its pretty likely that these people would have kind of written this off as a bad cold or the flu. None of them would have ended up going to hospital or significantly changing their behavior. And again, this indicates that it might be quite hard, and it is becoming quite hard, to contain this virus because some people don't feel very unwell, such that they would change their behavior or go for testing.

EH: In the US, from the information available, it still doesnt seem like the US has really ramped up testing. We dont know the number of tests that have been performed because its come down off of the CDC website, which is a little concerning. But at least the last reports that were given to us show the US was really lagging behind most countries in the number of tests that it had done.

A few days ago, the research group called the Seattle Flu Study, which is designed to take community samples from random people who have any kind of cough, runny nose, or cold-like symptoms and look for the fluthey pivoted and started testing some of the samples for coronavirus. They found a case in the Seattle area and sequenced the viral genome of the infected person [posted on NextStrain] and showed it links very closely with another case in the Seattle area thats from mid-January. And so this strongly suggests (though we dont yet know for certain) that there has been ongoing undetected transmission in Seattle since mid-January and wasnt picked up because we werent looking for it. This has become clearer in the last few days, as more cases and even deaths have been reported in Washington State. That tells us the virus hasnt just appeared in the last few days in the area.

Text continues below graphic

The viral genome of the first case in Washington (USA/WA1/2020) is identical to Fujian/8/2020. The genome of the virus from a second case in Washington (USA/WA2/2020) is identical to the first Washington case, except it has three additional mutations. This suggests WA1 was a traveler from China bringing the virus to Snohomish County, Washington in mid-January, where the virus circulated undetected for about five weeks, a timespan that explains why WA2 is so similar genetically, with a few mutations. The graphic shows the connection to the other cases with viral sequences now available.

EH: This virus causes respiratory illness, which can make you feel unwell for a few days and then you get better or it can progress. If the illness progresses it can cause lung damage that makes the person more susceptible to other illnesses, such as bacterial infection. This can be treated too and for many people that treatment turns the course of the infection, but some dont and the effort can essentially delay their death. So the infection may have occurred weeks [before a person dies]. This is not something intrinsic to this virus, however. With respiratory illness, its usually something that takes a substantial amount of infection and lung damage before you succumb to it.

EH: Sequencing can tell us a lot about what is happening with the virus right now. The Washington samples are a perfect example. . . . Without having these genomes, we never would have seen this signal of ongoing transmission, which we saw just before the case explosion in Washington. And on the flip side we can tell when cases are coming in from other countries. We have another genome from Washington State thats grouping with genomes that we know have a travel history to Italyso it seems like this could be a case where [an infected person] came back from Italy.

When you have a very small number of cases of a disease, you can do this just through epidemiological contact tracing: you can go to everyone and ask questions and find out the connections between the cases. As the case numbers scale up, this becomes very hard to do. With genetic sequencing, we can do this without having to go and try and figure out where everyone was at the time of infection. Weve had an influx of sequences from Brazil, Switzerland, Mexico, Scotland, Germany. These have clustered with sequences from Italy and have a travel history from Italy and so from that we can show that Italy really is now exporting cases around the world to multiple countries.

EH:Theres been a lot of modeling, not only with genetics but epidemiologically in the last few weeks, and we had pretty strong indications that circulation was wider than publicly thought. At the time, we did try to some extent to get this message out to government health agencies and the public in general. I do think that in the future, incorporating a little bit more of that scientific expertise perhaps into the public dialogue and government decision-making could make a big difference. The earlier that you can act in an epidemic, you have more effect you can have, because one person goes on to infect a few more people who go on to infect a few more people. Its much harder once that has gone up to 10 [infected] people, than if you can stop with person one.

One thing I would note is that studies have shown that limiting transportation really doesnt make much of an impact for outbreaks. Quarantining particular cities, if they seem to be epicenters, can work as a preventive measure, but as the epidemic scales up, you move past being able to contain it in this sense, [and] what you end up doing is just disrupting supply routes, interrupting business, making all of these things much harder.

Editors note: This interview has been edited for brevity.

Ashley Yeager is an associate editor atThe Scientist. Email her at ayeager@the-scientist.com. Follow her on Twitter @AshleyJYeager.

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Coronaviruss Genetics Hint at its Cryptic Spread in Communities - The Scientist

THE LOST FAMILYHow DNA Testing Is Upending Who We AreBy Libby Copeland

DNA is not love, notes a woman in The Lost Family, a new book about consumer genetic testing. Disappointed to learn that a man she thought was her half brother wasnt after all, she was underscoring that reality as revealed by DNA may not match reality as actually experienced in families.

This idea surfaces repeatedly in Libby Copelands well-researched exploration of the consequences intended and otherwise of Americans increasingly common practice of sending saliva samples to companies like 23andMe and AncestryDNA. The growing and assertively marketed industry then gives customers information about their background and allows them to find relatives by comparing their DNA with that of others in the companies databases.

For many, the results help flesh out family trees they already recognize. Others, including people adopted as children or conceived with donor sperm, can resolve longstanding questions about their birth parents. But some receive shocking surprises, like an NPE, shorthand for non-paternity event or not the parent expected revelations that ones mother or father is not who the person thought they were. The Lost Family explains the rise of the consumer genetics industry and how search angels citizen-scientist genetic genealogy experts devote hours to helping seekers solve DNA mysteries.

Copeland reiterates a few central questions throughout the book: How much of your sense of yourself should scientists and algorithms be allowed to dictate?; What makes us who we are?; and Is it always better to know the truth? Of course, the answers are up to the individual reader and will vary based on things like family dynamics and how earthshaking the consequences of knowing might be. Copelands balanced treatment of the subject allows readers to reach their own conclusions and shows them many of the factors they might consider as they do.

Theres a section on the pros and cons of companies ability to share consumer genetic information with researchers and pharmaceutical companies which could lead to better medical treatments, but also to a host of privacy issues. For instance, genetic ancestry databases to solve cold criminal cases, a practice thats taken off since it helped identify the notorious Golden State Killer.

Copeland also discusses the slipperiness of genetic ethnicity estimates, which are much less precise than the matching of individual family members. A test result might categorize someone as 37 percent Scandinavian or Irish, but as companies reference databases expand and their algorithms sharpen, such estimates could shrink or grow. The databases are also lopsided, containing more samples from people with European backgrounds than those with African or Latin American ancestry.

The book describes the controversial history, and future potential, for genetic information to be misguidedly conflated with racial and ethnic categories, even though science has documented more genetic differences within distinct population groups than between them. Attempts to twist genetic information to draw boundaries between groups have seeded societal toxicities like eugenics and white nationalism. And even people lacking nefarious motivation can blunder by linking genes and heritage too closely, Copeland writes. She cites the criticism of Elizabeth Warrens assertion that her 2018 DNA test suggesting she likely had at least one Native American ancestor six to 10 generations ago supported Warrens longstanding belief, based on her familys stories, that she was part Cherokee and Delaware Indian.

The Lost Family intersperses expository sections with an intermittent narrative of the step-by-step journey of Alice Collins Plebuch, a woman who is thrown for a loop when AncestryDNA results contradict her impression that her forebears were Irish, English and Scottish. Readers might find the unfurling of Plebuchs story a bit too attenuated, but her eventual discovery illustrates the hidden history that genetic testing can uncover.

Copeland drops in stories of other people who ferreted out family secrets. For some, like the man who learned his grandfather was African-American, not Italian, the information adds richness and context to their lives. For others, like the woman who received a letter from a lawyer asking her to stop contacting her biological father, or the woman whose half siblings wanted nothing to do with her, the denouement can be painful.

[ As Dani Shapiro recounts in her latest memoir, Inheritance, a few years ago she took a DNA test and discovered that she was only half Jewish and unrelated to the woman she had always thought was her half sister. ]

DNA testing reveals a truth that is black andwhite, even if the circumstances are gray, and then, everybody has to grapple with it, Copeland writes. Still, she says that anecdotes suggest most people are glad they unearthed the facts, even if the consequences were difficult. Hopefully, thats true because, the book contends, so many Americans are sending spit samples to DNA databanks that many genetic nuggets will inevitably be surfaced whether people want to keep them buried or not.

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Before You Spit in That Vial, Read This Book - The New York Times

What would the implications be if decoding your genes cost less than a pair of designer jeans? We might soon find out after a Chinese company claimed it can sequence the human genome for $100.

The speed at which the price of genetic sequencing has fallen has been astonishing, from $50,000 a decade ago to roughly $600 today. For a long time, the industry saw the $1,000 genome as the inflection point at which we would enter the genomic agewhere getting a read out of your DNA would be within reach for huge swathes of the population.

That milestone has come and gone, but progress hasnt stopped. And now Chinese firm BGI says it has created a system that can sequence a full genome for just $100. If the claims hold up, thats a roughly six times improvement over state-of-the-art technology.

The key to the breakthrough is a significant increase in the size of the chip that is used to analyze genetic data, so twice as many genomes can be processed at once. Their machine also uses a robotic arm to dunk the chip into baths of the chemicals used to carry out the sequencing process, which allows them to be reused multiple times.

The company says the system, which will be made available to customers late this year, is aimed at large-scale genomics projects and could make it possible to decode the DNA of 100,000 people a year.

The breakthrough could spur further price falls as well by breaking the stranglehold that industry leader Illumina has had on the market. Dennis Grishin, co-founder of startup Nebula Genomics, told MIT Tech Review that he believed the reason the price of genetic sequencing had remained stuck around $1,000 in recent years was due to Illuminas near monopoly.

A $100 genome could significantly broaden the scope of what we can do with genetic data. The growing field of population genetics promises to uncover the genetic quirks that set different groups of people apart, which can prove vital for developing new medicines and understanding the susceptibility of different groups to certain conditions.

While some ambitious projects, such as the UK Biobank project aimed at collating genetic data on 500,000 people, are already underway, the cost of sequencing has so far limited the scope of these projects. A dramatically cheaper system could see these kinds of initiatives become far more commonplace, greatly expanding our understanding of genetic diversity among humans.

By bringing the cost of full genome sequencing within reach of everyday people, the approach could also dramatically expand the scope of personalized medicine. While services like 23andMe have seen a huge expansion in consumer genetic testing, these services only decode a small fraction of the genome that isnt particularly useful for medical purposes.

DNA sequencing is already used to tailor cancer treatment by determining how peoples genetics are likely to influence their response to certain treatments, but it is still far from standard practice. At $100 the practice could become far more common and also be expanded to predict responses to a host of other treatments, ushering in a new era of personalized medicine.

Theres also hope that it would enable new tests that could provide early warning of susceptibility to a host of genetic diseases, or even sequence the DNA of patients microbiomes to detect imbalances in their gut flora that might be responsible for certain conditions or impact their responses to certain treatments.

Rade Drmanac, chief scientific officer of Complete Genomics, a division of BGI, told MIT Tech Review that at $100 it could soon be common to sequence the DNA of every child at birth. This could provide unprecedented early-warning for a host of diseases, but would also open up a Pandoras box of ethical concerns.

The movie Gattaca already explored the potential for discrimination when genetic testing becomes trivially easy, particularly when paired with increasingly powerful genetic engineering that is bringing the potential for designer babies ever closer.

Perhaps more importantly though, our understanding of how our genetics impact our lives is still very hazy. While we have identified some genes that strongly influence propensity for certain diseases, most human characteristics are governed by complex interactions between multiple genes whose activity can vary throughout our lives in response to environmental pressures.

Our ability to read our DNA is far ahead of our ability to understand it, which could lead to all sorts of problemsfrom creating a new class of worried well flagged as at risk of certain conditions that never come to be, to unnecessarily medicalizing or stigmatizing patients in ways that alter the trajectories of their lives.

With a $100 genome now within reach, we will have to tackle these issues with urgency to make sure the genomic age is one to look forward to rather than one to fear.

Image Credit: Pete Linforth from Pixabay

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$100 Genome Sequencing Will Yield a Treasure Trove of Genetic Data - Singularity Hub

In the day and age of genetic testing, people are able to trace their roots back generations. Kate Middleton apparently has many distant celebrity relatives, including her husband Prince William and comedian Ellen Degeneres. But many may not know that sibling actresses Dakota and Elle Fanning are also related to the Duchess of Cambridge, and they share a very interesting ancestor.

Prince William and Kate Middleton had a fairytale romance, and the world has adoringly watched her rise to royalty. Born to parents Michael and Carole Middleton, Kate comes from an upper-middle-class upbringing with no direct royal ties. But when her marriage to Prince William was confirmed, genealogists began digging through her ancestry.

As reported by Channel 4 News Patrick Cracroft-Brennan, Kate was technically a commoner before she married William, but her bloodline can be traced back to King Edward III.

Her great-great-grandmother, Frances Elizabeth Greenhow, was the 10 x great-granddaughter of Sir William Gascoigne, a Yorkshire knight who died in 1487, said Cracroft-Brennan. He married Lady Margaret Percy, 4th and youngest daughter of Henry Percy, Earl of Northumberland. The Earl descended from King Edward III through both his parents. Prince Charles and the late Princess Diana both descend from Sir William Gascoigne and his wife Lady Margaret.

With this lineage, Cracroft confirmed that Kate and William are fourteenth cousins once removed through his mother and fifteenth cousins through his father.

From George Washington to Jane Austen, it turns out Kate Middleton has plenty of noteworthy relatives. But two of her most famous celebrity relatives in modern times are sibling actors Elle and Dakota Fanning.

According to People, after digging through seven centuries of historical records (including birth and death certificates, census records, and burial and baptism records), researchers at Ancenstry.com found that the Fanning sisters are relatives of King Edward III through their mom, Heather Arrington.

The historians discovered that Elle and Dakota are 22nd great-grandaughters of the noted King who ruled England in the 1300s. Generation after generation, the lines we looked at pieced back directly to King Edward III proving that Elle is a direct descendant of royalty, a historian for Ancestry.com, told People. You can consider her a long-lost princess. This connection is so unique and rare.

With King Edward III in common, Kate and the Fanning sisters are distant cousins. In an interview E!, Elle talked about how wild the whole thing is. Its so weird, she told the outlet. I saw it the other day I looked online and like King Edward III is my great-great-great-grandfather. I was like, Is this real?'

When Tatler asked Elle what she thought of Kate, she was all praise. But she also admitted she wouldnt be able to handle the scrutiny that comes with being a royal. Kate and Meghan are doing royal femininity very differently, said the younger Fanning sister. I cant imagine being in the public eye like that. Every single move you make is critiqued.

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Is Kate Middleton Related to Dakota and Elle Fanning? - Showbiz Cheat Sheet

March 04, 2020 -Massachusetts General Hospital (MGH) is launching a new Preventive Genomics Clinic that will help advance precision medicine and preventive care by leveraging genetic information.

The new clinic will be integrated with the primary care practices at MGH, and will aim to help patients better understand, prevent, and predict disease. MGH chose to establish the genomics clinic after receiving requests from providers and patients for greater use of genetics in clinical care.

We believe DNA testing will be a key piece of routine care in the future, said Amit V. Khera, MD, an MGH cardiologist and co-founder of the new clinic. But, in many cases, our PCPs were unsure which of the available genetic tests were most appropriate for their patients or how best to integrate that information into an individualized screening or treatment plan. Thats why it was so important for us to root ourselves within primary care from the start.

Common reasons for referral to the clinic include requests for interpretation of an existing genetic test result, concern about family history of disease, or an interest in learning about the risks and benefits of testing while still asymptomatic.

Patients meet with a genetic counselor and physician to gather personal and family history information. If patients do decide to proceed with genetic testing, the team reviews testing options, works with the patients health insurance to determine whether it would be covered, and coordinates with the patients care team to make a plan based on test results.

READ MORE: FDA Approvals Advance Precision Medicine, Genomics Treatments

What has been surprising is the majority of the tests weve ordered have been fully covered by medical insurance based on family history or other indications, said Renee Pelletier, lead genetic counselor of the new program. This speaks to the underutilization of appropriate genetic testing for our patients.

For patients who are truly asymptomatic and have no family history of disease, the clinic offers preventive genomics assessments that typically arent covered by insurance. This could include testing for the BRCA1 mutations, which signal very high risk for breast and ovarian cancer, as well as mutations that can lead to high cholesterol levels and risk for early heart attack. In both of these cases, treatment options exist that can help patients overcome these genetic risks.

The team has also launched an eConsult program, which allows any physician to request a review of his or her patients medical record by the Preventive Genomics Clinic. Staff at the clinic can then determine whether genetic testing or a clinic appointment would be beneficial for the patient. Additionally, the team can answer questions about ordering new genetic testing or interpreting prior genetic testing results.

In many cases, we are able to answer a key clinical question just based on review of medical records, said Leland Hull, MD, a primary care physician in the group. For others, we recommend they be seen in our clinic or one of the several subspecialty clinics available at MGH for more detailed evaluation.

In the future, the clinic expects to see patients who learn about high genetic risk from ongoing research studies, including the Partners HealthCare Biobank or the NIH All of Us Research Program. Over the next several years, these programs are expected to perform sequencing of more than 100,000 participants in the Boston area.

READ MORE: New Precision Medicine Program to Study Role of Genomics in Disease

As the healthcare industry has increasingly recognized the important role precision medicine and genomics can play in patient health, more organizations are supporting the integration of genetic testing with routine clinical care.

Recently, a group of stakeholders launched the Institute for Gene Therapies (IGT), which will aim to modernize the US regulatory and reimbursement framework to ensure gene therapies for patients who need them.

The incredible scientific advancements in this space present unique opportunities to directly improve and save the lives of patients suffering from debilitating diseases, said IGT Chairman and former Congressman Erik Paulsen.

This is not some far-off future patients are already benefiting from the first FDA-approved gene therapies. But we need policy to move faster toward this new reality where we can treat the causes of many diseases. The Institute for Gene Therapies and our members believe unique regulatory and reimbursement structures need to be established, novel development pathways need to be embraced and new value-based arrangements need to be tested.

With the launch of the Preventive Genomics Clinic, MGH will help further incorporate novel tests and treatments into everyday healthcare delivery.

Its exciting to know we can now support access to genomics long before disease develops, promoting the best outcomes for our patients, said Heidi Rehm, PhD, chief genomics officer at MGH. Our goal is to build this resource for our own community and collaborate with other hospitals across the country in defining the best models for this new type of preventive clinical care.

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New Genomics Clinic Will Enable Preventive Care, Precision Medicine - HealthITAnalytics.com

ALBANY, New York, March 4, 2020 /PRNewswire/ -- Owing to multiple factors such as adoption of advanced technologies, high demand for well-bred animals with desirable genetic traits (livestock and poultry), and increase in disposable income is helping the global animal genetics marketchart a Compound Annual Growth Rate of 6.0 % from 2018 to 2026. As a result of this robust growth rate, market would be reach a valuation of USD 8.0 bn by the end of the forecast period.

Transparency Market Research states, "One of the most significant trends that will lead to a higher market growth over the forecast period is increase in ownership of companion animals. Besides, with food safety and quality gaining prominence, the live animal segment will show significant growth from 2018 to 2026."

Key Findings of the Animal Genetics Market Study

Explore 157 pages of top-notch research, incisive insights, and detailed country-level projections. Gain business intelligence on Animal Genetics market by Product Type - Live Animals (Bovine, Porcine, Poultry, Canine, and Piscine), Genetic Material (Semen, Embryo), Genetic Testing, Read Details TOC of the Report - https://www.transparencymarketresearch.com/report-toc/18995

Animal Genetics Market: Key Driving Factors

The animal genetics market is set to witness sturdy growth over the forecast period owing to a plethora of trends and growth drivers. As per Transparency Market Research, some of the crucial factors are high level of consumption of meat and poultry products, increase in purchasing power of people, need to plug supply gaps in terms of food, and growing demand for stronger animals, well-bred and with desirable genetic traits. An overview of growth factors is provided below:

Request PDF Brochure of Animal Genetics Market Report - https://www.transparencymarketresearch.com/sample/sample.php?flag=B&rep_id=18995

Key Impediments for Animal Genetics Market Players

Despite charting a steady growth curve over the forecast period, the global animal genetics market would not be free from restraints. As per Transparency Market Research, one of the major restraints that will limit growth in the global animal genetics market is the regulatory environment which is strict in terms of animal genetic engineering. Besides, a notable dearth of skilled professionals in the market is also a limiting factor in the global animal genetics market. Additionally, it is worth noting that animal testing is expensive.

Animal Genetics Market: Region-wise Analysis

Analyze Animal Genetics market growth in 30+ countries including US, Canada, Germany, United Kingdom, France, Italy, Russia, Poland, Benelux, Nordic, China, Japan, India, and South Korea. Request a sampleof the study,

Competition Landscape

Research and Development (R&D) forms the core of global animal genetics market and is thus a major determinant of the size of market share a player holds. Besides, players also forge partnerships in order to tap into uncharted territories in order to bring a larger consumer base into the fold. It is pertinent to note here that technology also holds a prominent place in the market.

Transparency Market Research has profiled key players such as Genus plc, CRV Holding B.V., Neogen Corporation Zoetis, Inc., Groupe Grimaud, Topigs Norsvin, VetGen, Animal Genetics Inc., and Hendrix Genetics BV, in its market report. The global animal genetics market has a decent number of players operating the market landscape.

Transparency Market Research has segmented the Animal Genetics market report based on product type, geography and forecast.

Product Type:

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Demand for Well-bred Animals With Desirable Genetic Traits to Drive Animal Genetics Market: Transparency Market Research - Benzinga

FT. MYERS, FL / ACCESSWIRE / March 2, 2020 / NeoGenomics, Inc. (NEO), a leading provider of cancer-focused genetic testing services, announced today that the company has been awarded a three-year contract with HealthTrust Purchasing Group (HPG). Effective March 1, 2020, NeoGenomics will serve as the cornerstone laboratory for HPG's Specialized Reference Laboratory for Oncology & Cancer Genetics, a newly-created category for oncology diagnostics in personalized medicine.

"We are honored to be awarded this contract to provide our testing services for all HPG-affiliated hospitals, cancer centers, pathology groups, and oncology/physician providers nationwide," said Douglas M. VanOort, Chairman and CEO, NeoGenomics. "This agreement gives NeoGenomics the distinction of being the first specialized oncology laboratory to become a preferred in-network lab option to help HPG members diagnose and treat cancer."

The agreement secures standardized corporate pricing for all HPG-affiliated facilities and health care providers nationwide, and it provides access to the extensive portfolio of NeoGenomics' cancer diagnostic and oncology genetics testing services and emerging informatics solutions.

About NeoGenomics, Inc.

NeoGenomics, Inc. specializes in cancer genetics testing and information services. The Company provides one of the most comprehensive oncology-focused testing menus in the world for physicians to help them diagnose and treat cancer. The Company's Pharma Services Division serves pharmaceutical clients in clinical trials and drug development.

Headquartered in Fort Myers, FL, NeoGenomics operates CAP accredited and CLIA certified laboratories in Ft. Myers and Tampa, Florida; Aliso Viejo, Carlsbad, Fresno and San Diego California; Houston, Texas; Atlanta, Georgia; Nashville, Tennessee; and CAP accredited laboratories in Rolle, Switzerland, and Singapore. NeoGenomics serves the needs of pathologists, oncologists, academic centers, hospital systems, pharmaceutical firms, integrated service delivery networks, and managed care organizations throughout the United States, and pharmaceutical firms in Europe and Asia. For additional information about NeoGenomics, visit http://www.neogenomics.com/.

About HealthTrust

HealthTrust (HealthTrust Purchasing Group, L.P.) is committed to strengthening provider performance and clinical excellence through an aligned membership model and the delivery of total spend management advisory solutions that leverage operator experience, scale and innovation. Headquartered in Nashville, Tennessee, HealthTrust (www.healthtrustpg.com) serves over 1,600 hospitals and health systems, and more than 43,000 other member locations including ambulatory surgery centers, physician practices, long-term care and alternate care sites. Twitter @healthtrustpg.

Forward Looking Statements

Certain information contained in this press release constitutes forward-looking statements for purposes of the safe harbor provisions of The Private Securities Litigation Reform Act of 1995. These forward looking statements involve a number of risks and uncertainties that could cause actual future results to differ materially from those anticipated in the forward-looking statements as the result of the Company's ability to continue gaining new customers, offer new types of tests, integrate its acquisition of the Genoptix business and otherwise implement its business plan, as well as additional factors discussed under the heading "Risk Factors" and elsewhere in the Company's Annual Report on Form 10-K filed with the SEC on February 26, 2019, amended by a 10K/A filed with the SEC on May 8, 2019. As a result, this press release should be read in conjunction with the Company's periodic filings with the SEC. In addition, it is the Company's practice to make information about the Company available by posting copies of its Company Overview Presentation from time to time on the Investor Relations section of its website at http://ir.neogenomics.com/.

Forward-looking statements represent the Company's estimates only as of the date such statements are made (unless another date is indicated) and should not be relied upon as representing the Company's estimates as of any subsequent date. While the Company may elect to update forward-looking statements at some point in the future, it specifically disclaims any obligation to do so, even if its estimates change.

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NeoGenomics Announces Three-Year Contract to be Cornerstone Oncology and Cancer Testing Laboratory for Large, National Group Purchasing Organization -...

With the effectual use of technology, innovative applications and expertise, this Direct-to-Consumer (DTC) Genetic Testing Market analysis report has been generated which successfully manages bulky and complex market data tables. To give clear idea about the current and future marketplace, most up to date market insights and analysis has been offered via this report. Several critical market factors covered in this Direct-to-Consumer (DTC) Genetic Testing Market report consist of primary research, benchmarking studies, secondary research, company profiles, competitive intelligence & reporting, syndicated research, data collection, data processing and analysis, survey design, and survey programming. Market analysis report execution is becoming very central for the businesses to gain success because it offers insights into revenue growth and sustainability initiative.

Competitive Analysis:The key players are highly focusing innovation in production technologies to improve efficiency and shelf life. The best long-term growth opportunities for this sector can be captured by ensuring ongoing process improvements and financial flexibility to invest in the optimal strategies. Company profile section of players such as EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics, Inc., Quest Diagnostics Incorporated, Abacus Diagnostica Oy among others.

Direct-to-Consumer (DTC) Genetic Testing Market Overview 2020-2026: Direct-to-consumer genetic testing are those tests which are promoted straight to customers through different modes such as advertisements, television or internet. Customers send their DNA samples to the company so they can run vital tests and prepare the customers report accordingly which could be available on the secure website or in written format. Direct-to-consumer genetic analysis offers people with easy access to their genetic facts and figures without needing any health insurance company or healthcare provider.

Browse Complete Report Details with Table of Content and Figures @https://www.databridgemarketresearch.com/toc/?dbmr=global-direct-to-consumer-dtc-genetic-testing-market

Market Driverso High ageing population and growing prevalence of genetic diseases will boost this market growtho Growing customer awareness about the DTC genetic testing acts as a market drivero Tests are effortlessly accessible to the customers around the world; this factor acts as a major market drivero Usage of DTC in genetic testing helps in the early disease detection and identification of genetic disorder which augments the demand of this marketMarket Restraintso High charges of DTC genetic testing kits can hamper the growth of this marketo Lack of skilled and trained professional is another factor restraining the growth of the marketo Scientific, technical and clinical issues along with fidelity to facts and truth-in-advertising can also act as restraining factor for the growth of this market

Highlights of the Report

o The report offers a 360-degree overview of the Direct-to-Consumer (DTC) Genetic Testing Market, primarily emphasizing on growth drivers, restraints, market trends, size, share, growth, challenges, new recent developments and opportunities of the market.

o It provides elaborative information about the competitive landscape of the market, names of market vendors, market segmentation on the basis of application, type, and others, and current logging-while-drilling market trends and industry developments.

o The report also throws light on strategies such as company collaborations, mergers and acquisitions, production analysis, application niches and dominance, product approvals, product launches, geographical expansions, technological innovations and up-gradation of the older versions, investments in research and development, and other strategies adopted by the market players.

List of the Leading Companies that are operating in the global Direct-to-Consumer (DTC) Genetic Testing Market are: EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics, Inc., Quest Diagnostics Incorporated, Abacus Diagnostica Oy among others.Direct-to-Consumer (DTC) Genetic Testing market also provides you with detailed market analysis for every country growth in healthcare expenditure for capital equipments, installed base of different kind of products for Direct-to-Consumer (DTC) Genetic Testing market, impact of technology using life line curves and changes in healthcare regulatory scenarios and their impact on the Direct-to-Consumer (DTC) Genetic Testing market. The data is available for historic period 2010 to 2018.

For More Information or Query or Customization Before Buying, Visit @https://www.databridgemarketresearch.com/inquire-before-buying/?dbmr=global-direct-to-consumer-dtc-genetic-testing-market

The Direct-to-Consumer (DTC) Genetic Testing Market report highlights the key players and the latest strategies including company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, company strengths and weaknesses, new product launches, partnerships, joint ventures, product width and breadth, application dominance, technology lifeline curve, segmentation in terms of region and industry competition, profit and loss ratio, and investment ideas.

Global Direct-to-Consumer (DTC) Genetic Testing Market In-depth Segmentation:

By Service (Diagnostic Screening, Prenatal, Newborn Screening, Pre-Implantation Diagnosis, Relationship Testing), Test Type (Carrier Testing, Predictive Testing, Ancestry & Relationship Testing, Nutrigenomics Testing, Others)

By Technology (Targeted Analysis, Single Nucleotide Polymorphism (SNP) Chips, Whole Genome Sequencing (WGS)

By Product Type (Ancestry, Health and Wellness, Entertainment), Business Model (Genome Data Bank Material Model, Individual Health Planning Model, Comprehensive Genome Tests Model, Medical Precision Tests Model, Restricted Trait Tests Model)

By End User (Laboratories, Blood Banks, Nursing Homes, Hospitals, Imaging Centers, Home Care, Cosmetics, Others), Sales Channel (Online Sales, OTC Sales, Doctors Office)

By Country (U.S., Canada, Mexico, Germany, Italy, U.K., France, Spain, Netherland, Belgium, Switzerland, Turkey, Russia, Rest of Europe, Japan, China, India, South Korea, Australia, Singapore, Malaysia, Thailand, Indonesia, Philippines, Rest of Asia-Pacific, Brazil, Argentina, Rest of South America, South Africa, Saudi Arabia, UAE, Egypt, Israel, Rest of Middle East & Africa)

Global Direct-to-Consumer (DTC) Genetic Testing Market reports provides 5 year pre-historic and forecast for the sector and include data on socio-economic data of global. Key stakeholders can consider statistics, tables & figures mentioned in this report for strategic planning which lead to success of the organization.

The Direct-to-Consumer (DTC) Genetic Testing report has been produced with the systematic gathering and analysis of information about individuals or organizations conducted through social and opinion research. With the studies, insights and analysis mentioned in the report, you get comprehensible idea about the marketplace with which you can take business decisions quickly and easily. The worldwide Direct-to-Consumer (DTC) Genetic Testing advertise report comprises of all the organization profiles of the key players and brands. Market definition covered in this Direct-to-Consumer (DTC) Genetic Testing report studies the market drivers and market restraints with which businesses can get idea of whether to increase or decrease the production of a particular product.

Global Direct-to-Consumer (DTC) Genetic Testing Market Report includes Major Detailed Table of Content Points: Table of Content

1 Introduction2Market Segmentation3 Market Overview4 Executive Summaries5 Premium Insights6 Regulatory Procedure7 Global Direct-to-Consumer (DTC) Genetic Testing Market, By Type8 Global Direct-to-Consumer (DTC) Genetic Testing Market, by disease type9 Global Direct-to-Consumer (DTC) Genetic Testing Market, By Deployment10 Global Direct-to-Consumer (DTC) Genetic Testing Market, By End User11 Global Direct-to-Consumer (DTC) Genetic Testing Market, By Distribution Channel12 Global Direct-to-Consumer (DTC) Genetic Testing Market, By Geography13 Global Direct-to-Consumer (DTC) Genetic Testing Market, Company Landscape14 Company Profile

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Direct-to-Consumer (DTC) Genetic Testing Market Outlook: Investors Still Miss the Big Assessment| EasyDNA, Ancestry, 23andMe, Color Genomics, Genesis...

Washington's Democratic senator made it clear Tuesday that she isn't impressed by Trump's response to the crisis. C-SPAN

The administration has had months to prepare for this andif someone in the White House is actually in charge of responding to this crisis it would be news to anyone in my state, Murray said. This is really a frightening time. At least six people in my home state have already died from the virus and Im told we should expect more.

Tuesdays Senate hearing included bipartisan criticism of the federal governments handling of the crisis, particularly the way the Centers for Disease Control (CDC) fumbled the distribution of testing kits for the new coronavirus, which is technically referred to as SARS-CoV-2. The CDCs initial testing kits were found to be defective and the agency has only tested a few hundred people for the virus, according to data that was abruptly removed from the agencys website yesterday.

Senators during Tuesday's hearing repeatedly focused on a deadly outbreak at a long-term care facility in Kirkland. Sen. Richard Burr, a Republican from North Carolina, asked the CDCs principal director how the outbreak could have happened given the CDC knew that the virus was present in Washington state.

How can we have a situation like Washington state where we have known for up to six weeks, [with the virus] reaching possibly 1,500 individuals, yet we experienced what we have with this long term care facility how can that happen when we invested so much in being there early on? Burr said.

Dr. Anne Schuchat, the principal director of the CDC, did not specifically explain why testing was not broadened in Washington but said that the outbreak in Kirkland was tragic.

The situation in Washington state is tragic, Schuchat said. An outbreak in a long-term care facility is one of the things we have been worried about since day one.

Dr. Stephen Hahn, a commissioner with the Food and Drug Administration (FDA), testified that the FDA is working with a private diagnostic test manufacturer to distribute 2,500 test kits able to complete 500 tests each, or over one million tests cumulatively, by the end of the week. Hahn was pressed by multiple Senators as to why he was confident that suddenly so many tests would be available when the government has so far struggled to get even a few hundred people tested. He offered a mild guarantee, saying that we have been in touch with this particular manufacturer over the last few days and we know them well.

But a report from The New York Times following Tuesday's hearing cast doubt on the government's ability to meet Hahn's prediction of one million tests by the end of the week.

Asked whether the government will have enough diagnostic tests to handle the outbreak, Schuchat said she was optimistic, but I want to remain humbled."

The CDC first distributed diagnostic tests around the country in February, but those tests were defective and unable to be used. The CDC eventually released a fix to the flawed kits, but that remedy was only sent to a small number of labs across the country, according to the New York Times.

The CDC also continued to use a restrictive set of criteria for who could receive the test, allowing people to be tested only if they had recently traveled to China or if they came in contact with a confirmed case of the new virus. That criteria was widened late last week to include travelers from affected areas other than China and for people who were hospitalized with unexplained flu-like symptoms.

The Food and Drug Administration further expanded testing on Saturday by allowing labs to do testing on their own, using their own diagnostic tests, instead of waiting for the CDC to provide replacements.

But the overall delay in testing has been blamed for hastening the spread of the deadly virus, particularly in the Seattle area. Genetic testing of two COVID-19 cases in Washington showed evidence the virus has been spreading in the Seattle region unnoticed for six weeks, according to genetic testing conducted by the Fred Hutchinson Cancer Research Center in Seattle.

Trevor Bedford, a researcher with Fred Hutchinson, has posted data supporting this hypothesis online and has blamed a lack of testing for accelerating the spread of the virus.

This lack of testing was a critical error and allowed an outbreak in Snohomish County and surroundings to grow to a sizable problem before it was even detected, Bedford said in a blog posted Monday.

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Patty Murray Grills Trump Administration Over Seattle's Coronavirus Outbreak: This Is A Really Frightening Time - TheStranger.com

The latest Genetic Testing Services market study offers an all-inclusive analysis of the major strategies, corporate models, and market shares of the most noticeable players in this market. The study offers a thorough analysis of the key persuading factors, market figures in terms of revenues, segmental data, regional data, and country-wise data. This study can be described as most wide-ranging documentation that comprises all the aspects of the evolving Genetic Testing Services market.

The research report provides deep insights into the global market revenue, parent market trends, macro-economic indicators, and governing factors, along with market attractiveness per market segment. The report provides an overview of the growth rate of Genetic Testing Services market during the forecast period, i.e., 20202027. Most importantly, the report further identifies the qualitative impact of various market factors on market segments and geographies. The research segments the market on the basis of product type, application, technology, and region. To offer more clarity regarding the industry, the report takes a closer look at the current status of various factors including but not limited to supply chain management, niche markets, distribution channel, trade, supply, and demand and production capability across different countries.

To get sample Copy of the report, along with the TOC, Statistics, and Tables please visit @ https://www.theinsightpartners.com/sample/TIPHE100001383/

The Genetic Testing Service market was valued at US$ 9,546.2 million in 2019 and is expected to grow at a CAGR of 11.7% from 2020 to 2027 to reach US$22,701.8million by 2027.

Market Insights

Government initiatives to increase awareness in the European Region

In Europe, Genetic testing has been growing at an exceptional rate; a large panel of tests are now offered to screen a number of genetic diseases. Treatments are available for a number of rare genetic diseases, and the process is gaining importance in scenarios, such as carrier testing, newborn screening, predictive, and pre-symptomatic testing, among others. Moreover, European countries have undertaken a number of initiatives to increase awareness among people about the benefits of genetic testing. For instance, EuroGentest is a project funded by the European Commission to harmonize the process of genetic testing, from sampling to counseling, across Europe. The ultimate goal is to ensure that all aspects of genetic testing are of high quality, thereby providing accurate and reliable results for the benefit of the patients. In addition, the UK Genetic Testing Network (UKGTN), an advisory organization in UK, promotes equity of access to genetic testing and provides contracting support to the NHS

Type Insights

The global genetic testing service market, based on the type, has been segmented into predictive testing, carrier testing, prenatal testing, newborn screening and others. In 2019, the predictive testing segment accounted for the largest market share in the global genetic testing service market by disease. Genetic Testing Services consist of large panel of tests are now offered to screen a number of genetic diseases. Treatments are available for a number of rare genetic diseases, and the process is gaining importance in scenarios, such as carrier testing, newborn screening, predictive, and pre-symptomatic testing, among others.

Key Players

The research provides answers to the following key questions:

The study conducts SWOT analysis to evaluate strengths and weaknesses of the key players in the Genetic Testing Services market. Further, the report conducts an intricate examination of drivers and restraints operating in the market. The report also evaluates the trends observed in the parent market, along with the macro-economic indicators, prevailing factors, and market appeal according to different segments. The report also predicts the influence of different industry aspects on the Genetic Testing Services market segments and regions.

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Our research and insights help our clients anticipate upcoming revenue compartments and growth ranges. This will help our clients invest or divest their assets.

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It is extremely vital to have an impartial understanding of market opinions for a strategy. Our insights provide a keen view on the market sentiment. We keep this reconnaissance by engaging with Key Opinion Leaders of a value chain of each industry we track.

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Our research ranks investment centers of market by considering their future demands, returns, and profit margins. Our clients can focus on most prominent investment centers by procuring our market research.

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Our research and insights help our clients identify compatible business partners.

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Genetic Testing Services Market Segmented by Region/Country: North America, Europe, Asia Pacific, Middle East & Africa, and Central & South America

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Genetic Testing Services Market Insight on the Analysis by Essential Factors and Trends In Industry by 2027 - Jewish Life News

AUSTIN, Texas, March 04, 2020 (GLOBE NEWSWIRE) -- Vermillion, Inc. (VRML), a bioanalytical-based womens health company focused on gynecologic disease, today announced Valerie Palmieri will participate on a Women in Leadership Panel, representing the corporate sector, at Women and Girls Day at the Connecticut State Capital. The all-day event is in celebration of Womens History Month and the 100thanniversary of womens suffrage. The company will also have an education booth on site for OVA1 Plus and overall Ovarian Cancer Awareness.

The event, hosted by the State of Connecticut, will be moderated by Melissa McCaw, Secretary of the Office of Policy and Management for the State of Connecticut and will feature topics critical to womens health. Other participants in the panel include: Susan Bysiewicz, Lieutenant Governor for the State of Connecticut; Dr. Elsa Nez, President of Eastern Connecticut State University; and Fran Pastore, CEO and Founder of Womens Business Development Council.

We are very honored to participate in this prestigious event and to be recognized by the Governor and Lt. Governor from the State of Connecticut for our commitment to womens health, said Valerie Palmieri, CEO of Vermillion, Inc.

About Vermillion, Inc.Vermillion, Inc. is transforming womens health with the discovery, development and commercialization of innovative testing options and bio-analytical solutions that help physicians assess risk, optimize patient management and improve gynecologic health outcomes for women. OVA1plus combines our FDA-cleared products OVA1 and OVERA to detect risk of ovarian malignancy in women with adnexal masses. Recently launched, ASPiRA GenetiXSM testing offers both targeted and comprehensive genetic testing options with a gynecologic focus. With over 10 years of expertise in ovarian cancer risk assessment Vermillion has expertise in cutting-edge research to inform our next generation of products. Our focus is on delivering products that allow healthcare providers to stratify risk, facilitate early detection and optimize treatment plans. Visit our website for more information about our products at http://www.vermillion.com.

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLCTel 617-775-5956Arr@LifeSciAdvisors.com

The rest is here:
Vermillion to Participate in Statewide Women and Girls Day at the Connecticut State Capital on March 6, 2020 - Yahoo Finance

With a simple sample of your saliva or swab of your cheek, a DNA testing kit can be used to research familial origin or ancestry and determine paternity. Formerly a niche pursuit, home DNA testing is now an easy way to map out your family tree.

The kits have become quite affordable over the past few years, too, with a wide range of DNA testing companies -- from trailblazers such asAncestryand23andMeto upstarts such as LivingDNA-- selling testing kits.

You can learn a lot from DNA testing. In addition to deepening your understanding of ancestry, some services will introduce you to living relatives around the world, through a common ancestor, or use markers to shed light on your predisposition to specific health issues and diseases. Others will even test dog DNA and give you insight into your dog's health and breed makeup. Here we present to you our roundup of the nine best DNA test kits and services -- what they offer, how they work and how much they cost.

We'll update this story as we continue our in-depth testing of these services. In the meantime, the ones included here are the most popular DNA testing services as determined by Google keyword search rankings.

Looking for more in-depth info on DNA testing services in general? Jump to our explainer.

Named for the 23 chromosomes found in human cells, 23andMe offers a battery of tests, including some that analyze health risks like Type 2 diabetes and Alzheimer's disease. (It was these tests thatattracted attention from the FDA.)

23andMe earns points for the depth of its medical tests, as well as the size of its match database. Purchasers of this DNA kit should note that the basic DNA test is $99 but that medical results cost another $99.

The added expense may be worth the money; the additional information includes genetic health risk information, wellness reports, trait reports, and carrier status reports, which indicate whether a particular DNA profile may be a genetic carrier of a disease or disability.

Your DNA information is gathered using a saliva sample from Autosomal DNA testing, which, once analyzed, is stored forever on 23andMe's servers. The service also provides for a chromosome browser and comparison, as long as any possible matches approve your access. The service's matrilineal and patrilineal line testing can geolocate your ancestry DNA in more than 1,000 regions.

(Appropriate for a genomics company, 23andMe's executive ranks contain some interesting familial relationships: CEO and co-founder Anne Wojcicki is the former wife of Google co-founder Sergey Brin and sister of YouTube CEO Susan Wojcicki.)

Ancestry DNA has a vibrant genealogical community and offers a wide range of databases, research resources and family matching features. The Ancestry DNA test provides analysis segments of your DNA results and traces its origins to 500 geographic regions throughout Europe, Africa and Asia -- the most detailed of any of the services we've profiled. AncestryDNA also says that it can help you learn about up to 26 traits and attributes you've inherited from your ancestors -- all from a little bit of saliva.

Ancestry maintains a free family tree search tool, and you can add your specific results to that database. You can also download your full DNA profile and import that data into another tool -- but Ancestry doesn't offer a chromosome browser, so you can't do DNA segment comparisons. Ancestry DNA stores results in its DNA database forever.

FamilyTreeDNA is operated by Houston-based genetic testing lab Gene-by-Gene. Gene-by-Gene also operates the Genomics Research Center for National Geographics' Genographic Project, which has concluded its public participation phase.

FamilyTreeDNA offers a wide range of tests. The basic autosomal test costs $79 (plus shipping) and is conducted with a swab test sample of your cheek cells. You can add sequences and markers, and your father's line and mother's line tests, but that will step up the price considerably.

If you're interested in doing in-depth analysis, the FamilyTreeDNA offers a chromosome browser, allows raw data to be uploaded, provides support for setting different segment matching thresholds and allows up to five comparisons to be done at once. FamilyTreeDNA allows trial transfers from 23andMe and Ancestry DNA into its DNA match database; additional transfers of various datasets are available for a fee. FamilyTreeDNA promises to keep data for 25 years.

Offering DNA test kits and a range of online subscription services, MyHeritage says that its database includes more ethnicities -- that's 42 -- than any other major testing service. The free 14-day trial will let you poke around the company's massive online DNA database which includes 3.5 billion profiles in addition to information about over 100 million subscribers and their collective 46 million family trees.

Starting at $79, the company's DNA testing kits are competitively priced and cover the basics: A simple cheek swab will give you an analysis of your ethnic origins and the identification of relatives who share your DNA. In addition to MyHeritage's free basic subscription, which will let you assemble a family tree up to 250 people, there are other packages that accommodate larger trees, advanced DNA features, and more robust research tools. The company allows you to upload test data from other DNA testing services.

MyHeritage says that it has also sold more than one million DNA testing kits -- but its enormous database is largely powered by Geni.com, a genealogy social mediaaccording to the New York Times site, that has assembled "the world's largest, scientifically vetted family tree," according to the New York Times. (MyHeritage is Geni.com's parent company.)

HomeDNA is kind of like the Walmart of DNA testing, which is somewhat appropriate given that the company's testing kits are sold at Walmart stores in addition to CVS, Rite Aid and Walgreens pharmacies.

HomeDNA offers a range of DNA ancestry testing services priced between $69 to $199. Though the jury is still out about the effectiveness of specialty tests, HomeDNA also sells test kits to determine food and pet sensitivity ($99), diet and exercise strategies based on your genetic makeup ($119), paternity ($164), and even skin care ($99).

Dog owners can buy a dog DNA test to help you determine your dog's breed history for $125. You can also buy a $125 health screening for your dog or cat that includes a series of tests for genetic diseases and traits. (If you're interested in a canine DNA test for less, Wisdom Health offers a dog DNA test kit for under $80.)

Testing is done with a mouth swab. Shipping is free. And results are kept for 25 years.

African Ancestry can't compete on price or the size of its match database, but it does offer deep regional analysis. It's a worthy specialized service for individuals looking at exploring African ancestry.

Rather than a match database of individuals, African Ancestry has the world's largest database of African lineages. The company can trace your ancestry back to a region in Africa and then pinpoint its location today. It can also dive deep into history and help find original ethnic groups that may date back as long as 500 years ago.

But the tests can get quite expensive. The company sells a maternal test kit and a paternal test kit for $299 each (shipping is free). If you want to trace both your maternal and paternal lines back through this DNA database, it'll cost you about $600. Still, for African family histories, the depth of analysis is unique among the services we profiled.

The Full Genomes service is so expensive, it offers a payment plan. But the service offers the largest library of Y-chromosome SNPs around. So if you want to explore your patrilineal background, this is the most comprehensive option on the market. You can also look into your mitochondrial DNA. There's no family match database, however.

Testing is done with a cheek swab. The company charges $25 for shipping.

Living DNA is a UK-based genomics firm that offers autosomal DNA data, as well as a breakdown of matrilineal and patrilineal lines. DNA data is gathered through a mouth swab.

Living DNA has a very limited family match database, so if you're looking for a service that can match you to relatives around the world, this isn't the one for you. But Living DNA's test is quite comprehensive, analyzing multiple types of DNA: it tests 638,000 autosomal SNPs, 22,500 Y chromosome SNPs and 17,800 X chromosome SNPs, along with 4,700 mitochondrial SNPs.

And the service tracks DNA to 80 geographic regions. Those with a UK family history will see a map of where paternal and maternal ancestors lived on the islands. Though we didn't test it first hand, Living DNA says its tools allow you to upload DNA data from other services to predict relationship matches.

Nebula Genomics offers a somewhat different take on DNA testing from the other testing services we've profiled. While you can order a full test kit from the company (and you should check to see if they're running a price promotion before ordering), you can also upload an existing DNA sequence from Ancestry or 23andMe's DNA database and get Nebula's reports at a reduced price.

The company claims a very different approach to DNA testing. Where most DNA testing firms examine a subset of the DNA sequence, Nebula says it examines the whole DNA sequence. They tell us they test, "1.3 billion positions and results in one thousand times more data than tests that use microarray-based genotyping.".

While the company does not offer a family-finding match database to connect you with relatives, they do offer a unique art print based on your DNA. We're not entirely sure we'd want to showcase our DNA up on the wall along with our prints of dogs playing poker and velvet Elvis, but Nebula's prints are quite attractive.

Of more note is the depth of the company's scientific reports based on your DNA sequence. The company also tests the microbiome in your mouth, providing a detailed overview of the bacteria contained inside your mouth and what it means for your overall health.

We wouldn't necessarily recommend Nebula's kit as your first stop on your DNA testing journey, particularly if you want to connect with your ancestors and family tree. But if you want to dive deeper even than 23andMe into the medical aspects of both your DNA and your personal mouth biome, Nebula is definitely a fascinating option to explore.

If you're using a home DNA testing service, you're likely looking for one of three things:

Ancestry and family history:The first big draw of a full DNA test is that you'll get a detailed breakdown on ancestry and ethnicity, and the migration patterns of your common ancestors. Spoiler alert: Your ethnic background may be radically different than you think it is. You'll also find out what a haplogroup is.

Relative identification:With your permission, some DNA services will let you connect with relatives you never knew you had -- other folks with matching DNA who have used the service and likewise given their permission to connect to possible relations.

Health and disease info:DNA testing can also indicate which conditions for what you may have a preponderance. It's a controversial feature, to be sure. Knowing that you have a genetic predisposition to a certain form of cancer may make you more vigilant for testing, but it may also lead to increased stress -- worrying about a potential health condition that may never develop, even if you're "genetically susceptible" to it. The possibility of false positives and false negatives abound -- any such information should be discussed with your doctor before you act upon it.

Afraid of needles and drawing blood? That's not an issue with these kits, which all involve either a swab test or a little bit of spit. All you need to do is spit into a vial or rub a swab in your mouth -- all the genetic data needed for these tests is present in your saliva -- and ship the DNA sample to the company for analysis.

The reason that a saliva sample works as well as blood (or hair follicles or skin samples) is that your DNA -- which is short for deoxyribonucleic acid -- is present in all of them. It's the basic genetic code present in all of your cells that makes up your key attributes, from the color of your eyes to the shape of your ears to how susceptible you are to cholesterol.

The key terms you need to know when comparing DNA testing services are:

SNP (single nucleotide polymorphism):Genotyping is done by measuring genetic variation. One of the more common is SNP genotyping, which measures the variations of a single nucleotide polymorphism. In our service summaries below, we discuss the number of SNPs. That's because the more a company measures, the more granular the variations analyzed.

Autosomal DNA testing:An autosomal test can be administered to both men and women and traces lineage back through both the maternal and paternal bloodlines.

Y-DNA:The Y-DNA test can only be administered to men and traces DNA back through the patrilineal ancestry (basically from father to grandfather to great grandfather).

mtDNA:The mtDNA is matrilineal and lets you trace your ancestry back through your mother, grandmother and great grandmother.

Autosomal tests can get you quality genetic information going back about four or five generations. Because the Y-DNA and mtDNA tests are more focused on one side of the line, you can get information going back farther, but with fewer data about family structure.

Before you use any of the services we've highlighted below, keep these important factors in mind.

Match database size:If you're looking for living relatives, this is important. Simply put, the bigger the pool of available data, the better the chance you'll have of finding a match.

Privacy concerns:Nothing is more private than your health data, which is why you should make sure a prospective DNA testing site follows the same best-practice online security protocols you'd expect from your bank or email provider. You'll want to look for two-factor authentication, an encrypted password database and so on.

But for DNA testing providers, you should also investigate how they're sharing your genetic data -- even if anonymously -- and how long they keep the data. It's not just academic: Authoritiesrecently identified a suspect in the Golden State Killer murdersthanks to an open-source DNA and genealogy service known as GEDmatch (not profiled here).

If you're creeped out by how much information Facebook,Googleand Amazon have on you based on your online browsing habits, just remember that these DNA testing services are getting what is effectively your medical history. Make sure of their policies before turning over that valuable data. Also, even if you don't share your DNA with a service, your familial DNA data may be available if a relative shared their genetic material. The privacy issues can get very complex.

Don't expect perfect accuracy.Testing kits can give you indications, but taking a DNA test with one of these testing services won't magically produce a history book of your family's background.

Consult a doctor on any health data:Cancer. Leukemia. Heart disease. Alzheimer's disease. There are a lot of scary afflictions out there, and your DNA testing may well indicate which ones to which you are genetically predispositioned. But the data markers from DNA testing kits exist in isolation. You should consult your doctor to explore the data from any of these tests. They'll help you determine how to implement any lifestyle changes or followup testing as a result, if it's worth doing so.

CNET's Justin Jaffe contributed to this story.

Updated periodically with new information.

The information contained in this article is for educational and informational purposes only and is not intended as health or medical advice. Always consult a physician or other qualified health provider regarding any questions you may have about a medical condition or health objectives.

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Best DNA testing kits in 2020: 23andMe, AncestryDNA and more compared - CNET

DALLAS "I'm sitting there, laying on the bathroom floor, thinking I'm about to die."

Gerrit Choate recounted every detail of a cold winter day in Salt Lake City, Utah.

The worst day of his life.

"The doctor said it was similar to a heroin addict going through a complete cold turkey detox," Choate said.

Gerrit experienced withdrawals for a drug Luvox, the brand name of fluvoxamine prescribed to treat obsessive-compulsive disorder (OCD).

"Come to find out from the doctors that the recommended usage is no longer than 30 days, Choate said.

Gerrit's eye widened for emphasis.

"I had been on it for about nine years."

Choate is the son of Southern Methodist University football legend Putt Choate, who still holds the school record for tackles in a season and tackles in a career.

"I grew up going to SMU games," Gerrit said. "It was always a dream to play for SMU."

Dreams turned to nightmares.

In sixth grade, Gerrit broke a bone in his lower back while playing football.

"Several doctors said I was never going to play any sport again," Gerrit said.

Devastating news for a multi-sport athlete.

"You tell that kid he can't, and he's gonna do it," declared his mom Fifi Choate.

After a year in a back brace, Choate consulted with another doctor who told him there's a slight chance he could play again.

Choate adhered to a strict rehabilitation plan and was eventually cleared to play.

The best day of his life.

The Dallas native became an All-State player at Parish Episcopal High School under head coach Scott Nady.

However, the helmet and broad shoulders masked the mental struggles Choate endured for years.

As a child, he was diagnosed with severe anxiety and OCD.

"Suddenly, he became a very anxious little boy," Fifi said. "Always needing reinforcement."

"The best way to describe it is just an overwhelming feeling that if you do don't this task, whatever it is, something bad will happen," Choate said.

The definition of OCD, according to the National Institute of Mental Health, is: a common, chronic, and long-lasting disorder in which a person has uncontrollable, reoccurring thoughts (obsessions) and/or behaviors (compulsions) that he or she feels the urge to repeat over and over.

"It was kind of difficult for me to understand," Choate's father Putt admitted.

As symptoms worsened, Chaote was prescribed Luvox.

With no Division 1 offers out of high school, Chaote walked on at Utah.

However, early into his college career, his mind and body started to shut down.

Doctors recommended Chaote take an expensive drug-gene test.

"Our insurance wouldn't even pay for it," Putt said.

According to the drug-gene test, Luvox was toxic for Choate's genetic makeup.

He had to wean off the drug as soon as possible, which would be no easy task since his body relied on it for nearly a decade.

"'I should've known as a parent.' That's what you beat yourself up the most about," Putt said. "You didn't check. You didn't look. You weren't aware. You didn't protect your child."

Fifi moved out to Utah for a couple of months to help Choate come off the medication. He would take gradually smaller doses until he was off of it completely.

One morning, Choate took his daily dose, but he had an upset stomach and vomited.

His body never digested that day's dose.

The worst day of his life.

"It was the most frightening thing I've been through," Fifi said. "He was so violently ill."

"It was just a nightmare," Choate said.

With his mother watching helplessly, Choate vomited 24 times in 12 hours in his Utah dorm.

"It was a complete shock how an anxiety medication could do this to somebody," Choate said. "Because one day off of this stuff has me going through hell."

Over time, Choate weaned off the drug and moved home to Dallas.

He stuck to a strict nutrition plan thanks to his nutritionist Jill Lane and walked on at SMU.

"Most people would've quit," Putt said. "And nobody would've blamed him."

"I just marvel at his determination," Fifi said proudly. "When life keeps knocking him down, there he goes. He's not going to accept it."

Now, Choate sees the benefit to sharing his experience with others.

"He doesn't want another child to go through the hell he had to go through," Fifi explained. "If your child has these symptoms, if they have anxiety, get them tested. Get their genetic testing done and see what their bodies can tolerate."

"It's not your typical comeback story," Choate said. "It took me a while to see it could help people and it would be selfish not to share it."

Gerrit is now a junior at SMU, where he plays linebacker and special teams.

Prior to his junior season, Choate was promoted from walk-on to scholarship athlete at his father's alma mater.

"He's a warrior," Fifi said, wiping tears from her eyes. "He takes a beating and gets back up."

More:
Dallas football player overcomes OCD, anxiety and drug withdrawals to earn scholarship at SMU - WFAA.com

A wolf pack in Moffat County has upended one of Colorados most controversial wildlife management debates, prompting voters, legislators and wildlife officials to wonder what course to chart on wolf reintroduction and management.

In mid-February, Colorado Parks and Wildlife confirmed through DNA tests on scat samples taken from Moffat County that a pack of at least four wolves was present in Colorado. The four were siblings, three females and one male.

This is the first time weve documented a group of wolves, a pack of wolves in the state since they were extirpated in the early 1940s, said Eric Odell, wildlife species conservation program manager.

These wolves were confirmed by Parks and Wildlife less than a month after a Colorado petition was certified giving voters the chance to weigh in on wolf reintroduction.

The pack coming into the state was a real reset in the conversation because, of course, before that the wolf reintroduction conversation was centered around the proposed ballot initiative, which has now gained signatures, said Colorado State Sen. Kerry Donovan, who is working on the issue in the Legislature. With the pack coming into the state, and with both sexes represented within the pack, we now have a management issue as well that the state isnt perhaps entirely prepared for.

Representatives of the Colorado Stop the Wolf Coalition have said the presence of this pack and its three females that could reproduce will make reintroduction unnecessary. But wildlife biologists say the presence of Craigs newest neighbors doesnt mean a re-established wolf population in Colorado is a done deal.

Another two wolves were observed by Parks and Wildlife staff, but genetic testing on those two has not been confirmed. More scat has been tested, but the full results have not been released. The genetics of those two animals are critical in understanding whether this pack is the start of a full wolf recovery in Colorado or an anomaly.

Its built into their social system to avoid mating with relatives, so they would not form a mated pair, University of Colorado-Denver Professor Diana Tomback said of the sibling wolves. The perpetuation of this pack is going to depend on what the genetic relationship is of the other two members.

Tomback, a conservation biologist who served on the science committee of the Rocky Mountain Wolf Project, said there are still too many unknowns to determine the future of these wolves. However, having a breeding pack in Colorado may not be enough for the species to recover, she said, without more wolves to provide genetic diversity.

If you actually go by the guidelines used by U.S. Fish and Wildlife to determine whether a population is recovered, it has to populate enough range and be there with enough population size to be able to withstand disturbances and challenges that are natural to their environment, Tomback said. From the perspective of genetic diversity, this one pack is inadequate.

Other wolves make the trek from the northern Rocky Mountains to Colorado, Odell said. Between 2004 and 2019, six gray wolves were photographed or killed in Colorado. More would have to make that journey and find this pack for the population to expand.

One pack is a start to establishing a population, but it does not meet the (U.S. Fish and Wildlife Service) definition of a wolf population two or more packs successfully reproducing for two or more years, Odell said. Genetic diversity is important, and only one pack does not provide that needed diversity.

Wolves have spread this way in the past. Gray wolves were reintroduced to Yellowstone National Park and Idaho in the mid-1990s and expanded their populations in Idaho, Wyoming and Montana. Today, more than 2,000 wolves are estimated in those three states.

In the early 2000s wolves started to pop up in Oregon, which sits across the Snake River from Idaho, said Michelle Dennehy, communications coordinator for the Oregon Department of Fish and Wildlife. One was killed crossing a road. Another was found shot. All were lone wolves, known as dispersers, that had left packs to search for mates.

In 2008, a wolf from Idaho crossed the Snake River and gave birth, starting the first pack in the state.

In 2009, Oregon confirmed a second pack, she said. By 2010, both packs were giving birth to pups.

We didnt do any translocation, Dennehy said. Everything is here naturally or reproduced naturally and weve gone from, if you just look at the numbers, from 10 in 2009 to 137 at the end of 2019.

Oregon and Colorado are not a one-to-one comparison when it comes to wolf migration though, Tomback said. The major obstacle between Idahos estimated 1,000 wolves and northeast Oregon is the Snake River. While it is a difficult river to cross, many wolves have done it. According to the latest Oregon Wolf Management Plan, Radio-collar data shows that dispersing wolves immigrate to and emigrate from Oregon, indicating that Oregon is part of a metapopulation with Idaho and Washington.

THE HARD ROAD TO COLORADO

In Wyoming, wolves in the northwestern portion of the state are managed with some hunting allowed in areas outside Yellowstone National Park. In the rest of the state, wolves are considered a nuisance species and can be killed with no limit, Odell said.

A wolf must make a 120-mile trek from the southern edge of Wyomings Wolf Trophy Game Management Area through high desert hills, sagebrush seas, canyons and across Interstate 80 to get to the Colorado border. During that trip, by Wyoming law, they can be killed without limitation.

It is a challenge and this does seem to be the first time two individuals, a male and a female have made it down and found each other and successfully reproduced, Odell, with Colorado Parks and Wildlife, said. Wolf management in Wyoming, they manage it as a game species in the northwest part of the state and, then outside of that its a varmint species, so there is quite a challenge for animals to cross that landscape.

Because of the difficulty in crossing through southern Wyoming, Odell said this pack is likely a mated pair that produced pups in or near Colorado.

Denny Behrens, Colorado Stop the Wolf Coalition co-chairman and regional director for Big Game Forever, said this natural reproduction and the known instances of wolves dispersing into Colorado in the past make further reintroduction efforts, like the initiative that will appear on the November ballot this year, moot.

Theres no need for introduction in this state, Behrens said. They are naturally dispersing out of the nonessential experimental area up in Wyoming and so its the same thing. Theyre moving into Washington and Oregon and California.

Tomback said she is skeptical that dispersing wolves will make it to Colorado frequently enough to provide the necessary genetic diversity to ensure the continued survival of the population.

If people want to reintroduce wolves into Colorado, its going to take more than waiting for this to happen, Tomback said. The last 25 years have shown that, yes, individual wolves may disperse and make it down, but theyre not able to find another wolf of the right sex and form a pack. So wolf reintroduction, scientifically, the reality is its going to take some help to get that genetic diversity and to get the numbers down where wolves can form packs with each other.

Donovan has proposed a bill to provide for the reintroduction of wolves, but only after a funding source has been identified to pay for wolf management and reimbursement to ranchers who lose livestock to wolf depredation. It also gives five years for the current wolf population to establish naturally before moving forward with reintroduction.

Donovan said she was pursuing the legislation to take a deliberative approach to the question of wolf management and reintroduction, but she said many unknowns still surround the states lone pack.

We will have to see if they settle down in a range, if they reproduce this spring, Donovan said. Right now, we dont know if we have a roaming pack of teenagers or if we have a group thats looking to settle down in Colorado.

While the first pack in Colorado is historic being the first to cross that hostile terrain, find each other and perhaps settle here for good they are only the start of what could mark the first return of a real population of wolves in the state in 80 years, Odell said. Whether through human reintroduction or from wolves dispersing from the north, the formation of more packs will be needed if wolves are going to once again range widely throughout Colorado.

With a ballot initiative coming in November, a bill proposed in the Senate and at least six wolves wandering through northwest Colorado wilderness, Donovan said looking into all the issues wolves represent is now more important than ever.

We have wolves in Colorado and we suspect that delisting could come out of D.C. sooner rather than later, Donovan said. I think it is a perfect time to look at these issues in a very thoughtful way with the folks in the room who are most excited about having wolves in the mountains again and what that means and the people in the room who are most concerned about what it means to have a federal land lease and a wolf pack as your neighbors.

Read more:
Moffat County wolves open up a new pack of issues - The Grand Junction Daily Sentinel

Task force to be set up to prevent genetic diseases: minister

LAHORE : Punjab Minister for Health Prof Yasmin Rashid has said that only two per cent of children are born healthy and 98 per cent of children fall prey to one genetic disease or the other.

Considering it a highly important and sensitive subject, Punjab government decided to establish task force for the prevention of genetic diseases among children in the province, the minister announced this in a press conference held in connection with World Rare Disease Day 2020 here on Saturday. The day is observed every year all over the world on the last day of February (this year on February 29). The ceremony was arranged jointly by the Department of Pediatric Gastroenterology, Hepatology Children Hospital Lahore and an international partner institute from Germany.

Children Hospital Dean Prof Masood Sadiq, paediatric department head Prof Dr Huma Arshad Cheema and three-member team from Germany including Prof Peter Bauer MD and Dr Susan Krake also attended the ceremony.

Several children who had suffered genetic diseases were also brought by their parents from all over the country where the speakers highlighted the impact of the cousin marriage and marriages in same castes.

Prof Yasmin Rashid lauded the efforts of Prof Huma and her team to bring international renowned experts to Pakistan to observe highly important day to sensitise the government functionaries and the public about the burden of the disease on children because of marriages with cousins and in same castes.

Declaring it an alarming situation, she said that the treatment of the genetic disease is highly expensive and the Punjab government was allocating massive funds for the ailing kids.

She especially thanked to the international experts for coming Pakistan in order to educate the local doctors and create awareness among masses about the genetic diseases, saying that the establishment of a dedicated unit for the same purpose in Childrens Hospital Lahore was highly commendable.

She also acknowledged the services of Prof Huma Arshad Cheema for establishing the only department in any public sector institute in Pakistan (at Childrens Hospital Lahore).

Speaking on the occasion, Prof Masood Sadiq appreciated the efforts of the health minister for providing his hospital hefty funds Rs700 million, declaring it a major step to provide treatment to the kids uninterruptedly.

He said that the Childrens Hospital has provided free test and diagnosis facility to more than 2,000 children suffering from genetic diseases during last couple of years.

Prof Huma said that the department of pediatric and gastroenterology and Hepatology of Childrens Hospital Lahore is the only one all over the country for diagnosis and treatment of patients with the lysosomal storage disorders, inborn error of metabolism and all kinds of genetic diseases.

Declaring it a blessing for the kids in Pakistan, she said that these services were made possible in collaboration with a network of world famous scientists, physicians, charitable organisations and research centres. I am sharing with pleasure that we are able to provide treatment to the kids coming from all four provinces of Pakistan with genetic diseases, Prof Huma said.

She said that it is quite unfortunate that there is no private or public sector facility for genetic testing in Pakistan. We have to send blood samples abroad for testing and per person test cost is more than Rs200,000 and for tests of an affected children and his/her parents, we have to bear cost Rs600,000, she said. Despite the fact that the number of affected children was tremendously high in Pakistan, yet the Childrens Hospital was providing test facility absolutely free of cost, she said.

See the article here:
Task force to be set up to prevent genetic diseases: minister - The News International

By Nigel Bowen

When John Kelly took part in a traditional rite of passage for the Irish a year-long backpacking trip around Australia he had no idea that a quarter of a century later hed be exporting innovative Australian medical technology to the world.

I visited in my early twenties and loved the quality of life. So I moved here permanently in my late twenties and continued my career in the medical device industry, explains Kelly.

In the following years, the success of his two employers ResMed and Unilife Corporation in developing easy-to-use medical devices inspired Kelly to create a game-changing medical device of his own.

The experiences of his daughter had highlighted how costly and time-consuming the process of blood test diagnosis was for both patient and medical practitioner. Typically, one trained medical professional was required to extract the blood and send it to a laboratory to be analysed by another trained medical professional. Then, the patient was required to make another appointment to learn the results regardless of the outcome.

With this in mind, Kelly resigned from his position as Unilife Corporations Chief Operating Officer in 2008 and launched a start-up called Atomo Diagnostics the following year. His goal was to create a simple and accurate blood test that was as straightforward and immediate as a home pregnancy test.

Making self-testing easy

Six years later Atomo Diagnostics has two rapid test products in market. The innovative design of the device is easy to use compared with competing products and makes it possible to test on-the-spot, allowing for self-testing in the future. With all of the various testing elements integrated within the one device rather than bits in boxes, the error margin is significantly reduced.

While it didnt take particularly long for validation via government grants, private funding, accolades and industry interest, in the early days Kelly was very aware he was taking a huge gamble.

Theres no way of knowing if these things are going to be a waste of time, effort and money until youve at least got a working prototype, notes Kelly. During that initial phase the company was funded with my money along with IDEs, a product development company I partnered with to produce the device. If the assumptions in the business plan, of which there were many, had been wrong I would have lost several hundred thousand dollars and 18 months of my life.

Kelly believes federal government grants and tax breaks played a crucial role in the success of what was to become the AtomoRapid platform. Funding at key stages of the business, from concept to commercialisation, were critical in getting the idea off the ground.

Commercialisation Australia provides funding to businesses when they really need it and if they hadnt provided it to Atomo who knows if wed have been able to develop the concept, prove it in the market and get the private investment we subsequently got, said Kelly.

Kelly took several personal measures to increases his chances of success. Despite having undergraduate qualifications in mechanical engineering and a Masters in systems engineering under his belt, Kelly embarked on an MBA at the University of Sydney in the hope of broadening his skill set and better support his company.

I had the technical background but I felt I needed to round out my executive management skills. The MBA certainly provided that, along with allowing me to expand my network, which turned out to be useful. One of my classmates now sits on the board of Atomo.

Improving the accuracy of testing

Following a huge amount of time and investment, by 2013 Atomo Diagnostics had a rapid blood test ready for testing in the field and had convinced diagnostic industry multinational BBI Solutions to help commercialise it. Seeing the opportunities to positively impact accuracy of HIV testing, the company decided to test first in the South African cities of Johannesburg, Cape Town and Pretoria. According to Kelly, errors with the existing tests result in tens of thousands of people being incorrectly diagnosed as negative for HIV each year. Those people then go without treatment and have a higher risk of unknowingly pass the disease on to others.

We picked Africa because it has the highest disease burdens globally for HIV and malaria. It was not hugely profitable compared with other tests and other developed markets, however HIV and malaria have the biggest impact on global health and deserved our focus, Kelly says.

Up against a number of competing rapid testing products, Kelly says healthcare professionals who used the all-in-one AtomoRapid HIV test found it far more straightforward than the bits in a box tests sold by other companies.

The feedback was fantastic one woman whod been testing people for 15 years used the AtomoRapid platform for one day then told her boss she never wanted to use anything else ever again, says Kelly.

It has made testing simpler and more accessible by combining the lancet [needle], capillary tube [storage unit] and test strip [results] into one device, said Phillip Smith, project leader for mobile services at the Desmond Tutu HIV Foundation in South Africa

Our counsellors found it was simpler to use than traditional tests and had a much clearer test strip, making it easier to identify the outcome. The device is so straightforward were now investigating the feasibility of allowing self-testing.

Collaboration across the globe

Across the other side of the globe in New York, the Atomo products have also been turning heads. At the 2014 Medical Design Excellence Awards the AtomoRapid HIV (1&2) integrated rapid antibody test won Best in Show, with the judges declaring that the product was earth-shaking in its potential significant impact on third-world detection of infectious disease, global public health and individual healthcare.

The award is the latest in a bevy of accolades for the device ranging from the 2012 Engineers Australia Bradfield Award to taking out first place in Anthills SMART 100 Australian Innovations for 2014.

Far from worrying about losing of hundreds of thousands of dollars as he was in the early days, Kelly is now focused on building a company that could end up with a market capitalisation of hundreds of millions of dollars and make a difference for millions of people around the globe.

Weve just launched an AtomoRapid platform that tests for malaria in Africa, weve done a deal with a US company about adapting the platform for use as a home test for blood coagulation, were talking to some pharmaceutical companies about developing custom diagnostics for things such as allergies and kidney function, and weve recently signed a Memorandum of Understanding with a large listed Chinese healthcare company that want the rights to use our technology in their country. And thats just what weve achieved with the current platform, he says, hinting at big future plans for Atomo Diagnostics.

Once we develop it further, particularly if we can incorporate multi-sensor technology, we can start doing things such as genetic testing or testing for a range of different diseases, rather than just one.

If successful, these developments would mean a global game change for patients and the healthcare industry alike.

This post was previously published on australiaunlimited.com and is republished here under a Creative Commons license.

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Reinventing the Blood Test - The Good Men Project

Little Finlay Duthie is one a billion or 7.8billion as he is the only known child in the world to have a condition which could end his life at any time.

Finlay, 11, has hyper-oricemia pulmonary hypertension (HUPRA) a genetic syndrome only discovered in 2010 in three children in Palestine, who have all died.

But Finlays condition is a unique mutation of the condition which means his parents cannot tell how it will progress.

He was only diagnosed a year ago after years of genetic testing.

In the cases of the Palestinian children and the handful subsequently diagnosed around the world with HUPRA, all were dead by four years old.

HUPRA is an extremely rare mitochondrial disease.

Mitochondria are structures in cells which convert food to energy but in HUPRA patients they dont charge properly causing failure in vital organs.

Finlay will be prone to heart disease, diabetes, epilepsy and faces losing his sight and hearing.

His kidneys have already failed and dad Ross, 36, gave him one of his five years ago.

But, like all kidney transplants, the organ will not last for life so mum, Jennifer, 36, has already been tested as a match and is on stand-by. She said: We had hoped to get him to his teenage years without the transplant but his kidneys failed.

He is now on anti-rejection drugs which means his immune system is low so he gets really ill and ends up in hospital with bugs most people would shake off in a couple of days.

Finlay has had 13 operations including ones for biopsies when cancer was feared on two occasions because of the increased risk with anti-rejection drugs.

Although he is 11, he has a mental age of three because one of the other effects of the condition is global developmental delay. He also has autism. Former nurse Jennifer, who runs a toddler sensory group, added: Finlay is normally a happy little guy really cheeky and always has a smile on his face. He has no awareness of how unwell he is.

The couple, from Stirling, have another son Harrison, 15 months, who is a carrier but unaffected.

Jennifer said: Finlay has some of the same symptoms as other HUPRA patients and some different ones. We think he is the only one in the world with this variation.

It is good in a way because his variation has allowed him to live longer. But it is also a double-edged sword because we are dealing with something no one knows about.

We have no idea what the future holds.

Read more:
Scots boy is one of handful diagnosed with rare condition - and the only one still alive - Daily Record