Archive for the ‘Genetic Testing’ Category

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.

Our reports will help clients solve the following issues:

Insecurity about the future:

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

Understanding market opinions:

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.

Understanding the most reliable investment centers:

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.

Evaluating potential business partners:

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

Interested in purchasing this Report? Click here @ https://www.theinsightpartners.com/buy/TIPHE100001383/

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

About Us:

The Insight Partners is a one stop industry research provider of actionable intelligence. We help our clients in getting solutions to their research requirements through our syndicated and consulting research services. We are committed to provide highest quality research and consulting services to our customers. We help our clients understand the key market trends, identify opportunities, and make informed decisions with our market research offerings at an affordable cost.

We understand syndicated reports may not meet precise research requirements of all our clients. We offer our clients multiple ways to customize research as per their specific needs and budget

Contact Us:

The Insight Partners,

Phone: +1-646-491-9876

Email: [emailprotected]

Continued here:
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.

Read this article:
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

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

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

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.

All Premium Members get to view The Good Men Project with NO ADS.

Need more info? A complete list of benefits is here.

Photo credit: Istockphoto.com

Continued here:
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

SELBYVILLE, Del., Feb. 27, 2020 /PRNewswire/ -- Global Market Insights, Inc. has recently added a new report on genetic testing market which estimates the global market valuationfor genetic testing will cross US$ 28.5 billion by 2026. A growing demand for DTC genetic testing will drivemarket expansion over the forecast period. Genetic testing can project the risk of diseases, identify carriers and establish diagnoses. DTC genetic testing can help individuals identify ancestral origins and predisposition to certain illnesses. This can enable individuals to prepare or prevent the onset of certain diseases. Increasing awareness among people regarding their health will drive industry growth.

Growing adoption of genetic testing in oncology and genetic diseases in North America will propel the market expansion. Genetic testing to determine the probability of cancer and rare diseases helps in planning the treatment. Genetic testing helps in the formulation of the most effective treatment for cancer and other diseases. Hence, the growing application of genetic testing in cancer and genomic disorders will fuel the genetic testing market growth.

Requesta sample of this research report @https://www.gminsights.com/request-sample/detail/2490

Nutrigenomic testing was valued at USD 408.9 million in 2019 and will witness significant growth over the forecast period. Nutrigenomic testing determines how genetic variations change the individual reaction to nutrients. Nutrigenomic can assist with optimum nutritional planning. Rising incidence of obesity due to increased consumption of junk food and sedentary lifestyle will fuel the segment growth over the forecast period. Furthermore, growing awareness regarding customized diets will fuel market growth.

The cancer testing market held nearly 52% market share in 2019 and will exhibit robust growth in the forecast period. The growth can be attributed to the advancements in genetic testing that can confirm the diagnosis. Furthermore, genetic testing can help with the formulation of the most effective drugs for the treatment of cancer, improving patient outcomes. These factors will boost the growth of the cancer testing segment.

The European genetic testing market held a substantial value in 2019 and is poised to exhibit nearly 13% CAGR over the forecast period. The growing geriatric population will boostdemand for genetic testing in the region. Furthermore, presence of key market players in the region will positively impact the technology adoption. Additionally, favorable government initiatives to harmonize genetic testing and ensure accurate and reliable results will boost market growth.

Browse key industry insights spread across 146 pages with 138 market data tables & 8 figures & charts from the report, "Genetic Testing Market Share & Forecast, 2020 2026" in detail along with the table of contents:

https://www.gminsights.com/industry-analysis/genetic-testing-market

Some major findings of the genetic testing market report include:

Few notable players in the genetic testing market share are 23andME, Abbott Molecular, Bayer Diagnostics, Cepheid, Counsyl, PacBio, Illumina Inc., Qiagen, Roche Diagnostics, BioCartis, and Siemens. The market players are adopting strategies such as innovative product launches and acquisitions to expand their customer base and market share.

Make an inquiry for purchasing this report @https://www.gminsights.com/inquiry-before-buying/2490

Partial chapters of report table of contents (TOC):

Chapter 2. Executive Summary

2.1. Genetic testing industry 360synopsis, 2015 - 2026

2.1.1. Business trends

2.1.2. Test-type trends

2.1.3. Application trends

2.1.4. Regional trends

Chapter 3. Genetic Testing Industry Insights

3.1. Industry segmentation

3.2. Industry landscape, 2015 - 2026

3.3. Industry impact forces

3.3.1. Growth drivers

3.3.1.1. Physician adoption of genetic tests into clinical care

3.3.1.2. Technological advancements and availability of new tests

3.3.1.3. Growing application of genetic testing in oncology and genetic diseases in North America

3.3.1.4. Consumer interest in personalized medicines in Europe

3.3.1.5. Growing demand for direct-to-consumer genetic testing

3.3.2. Industry pitfalls & challenges

3.3.2.1. High costs of genetic testing

3.3.2.2. Dearth of experienced professionals and advanced infrastructure in developing and underdeveloped economies

3.4. Growth potential analysis

3.4.1. By test type

3.4.2. By application

3.5. Regulatory landscape

3.5.1. U.S.

3.5.2. Europe

3.6. Market share analysis, 2018

3.6.1. Market share analysis, by North America, 2018

3.6.2. Market share analysis, by Europe, 2018

3.6.3. Market share analysis, by Asia Pacific, 2018

3.6.4. Market share analysis, by Latin America, 2018

3.6.5. Market share analysis, by Middle East & Africa, 2018

3.7. Porter's analysis

3.8. Competitive landscape, 2018

3.8.1. Strategy dashboard

3.9. PESTEL analysis

About Global Market Insights

Global Market Insights, Inc., headquartered inDelaware, U.S., is a global market research and consulting service provider, offering syndicated and custom research reports along with growth consulting services. Our business intelligence and industry research reports offer clients with penetrative insights and actionable market data specially designed and presented to aid strategic decision making. These exhaustive reports are designed via a proprietary research methodology and are available for key industries such as chemicals, advanced materials, technology, renewable energy and biotechnology.

GMIPulse,our business analytics platformoffers an online, interactive option of exploring our proprietary industry research data in an easy-to-use and dynamic manner. Clients get to explore market intelligence across 11 top-level categories and hundreds of industry segments within them, covering regional, company level and cross-sectional statistics that make our offering a stand-out for decision-makers.

Contact Us:

Arun HegdeCorporate Sales, USAGlobal Market Insights, Inc.Phone:1-302-846-7766Toll Free:1-888-689-0688Email:sales@gminsights.com

Related Images

genetic-testing-market-size-will.jpg Genetic Testing Market size will exceed $28.5 Bn by 2026 Genetic Testing Market size slated to surpass USD 28.5 billion by 2026, according to a new research report by Global Market Insights, Inc.

Related Links

Direct-to-Consumer Genetic Testing Market

Prenatal and New-born Genetic Testing Market

View original content to download multimedia:http://www.prnewswire.com/news-releases/genetic-testing-market-demand-to-hit-usd-28-5-bn-by-2026-global-market-insights-inc-301012933.html

SOURCE Global Market Insights, Inc.

Read the original post:
Genetic Testing Market demand to hit USD 28.5 Bn by 2026: Global Market Insights, Inc. - P&T Community

Ohtawara, Japan; February 27, 2020 - Canon Medical Systems Corporation (Canon Medical) announces the start of development of a rapid genetic testing system for the novel coronavirus (COVID-19) reaffirming the companys commitment to the basic research and development of rapid diagnostic test kits. This project is part of a research program focusing on the development of diagnostic methods for COVID-19 led by the Japan Agency for Medical Research and Development (AMED).1)

Canon Medical was selected to participate in this research program in cooperation with Nagasaki University. This was in recognition of Canon Medicals strength in leveraging the companys technologies in delivering practical solutions to support medical emergencies, notably by supplying Ebola rapid test kits to the Republic of Guinea in 2015,2) donating Ebola rapid test kits to the Democratic Republic of the Congo in 2019, and through the manufacturing approval and sale of the Genelyzer KIT (a reagent kit for Zika virus RNA testing) in 2018.3)

The test and the reagents developed for COVID-19 RNA testing is based on the LAMP method4) developed by Eiken Chemical Co., Ltd., and are used with a compact isothermal amplified gene fluorescent detector manufactured by Canon Medical to detect the presence of virus. Compared to the conventional test method of real-time PCR, the LAMP method allows for detection of the virus to be performed more easily and quickly, which makes it suitable for testing in local areas where infection is prevalent.

Ad StatisticsTimes Displayed: 56986Times Visited: 439

About Canon Medical Systems USA, Inc.Canon Medical Systems USA, Inc., headquartered in Tustin, Calif., markets, sells, distributes and services radiology and cardiovascular systems, including CT, MR, ultrasound, X-ray and interventional X-ray equipment. For more information, visit Canon Medical Systems website at https://us.medical.canon.

About Canon Medical Systems CorporationCanon Medical offers a full range of diagnostic medical imaging solutions including CT, X-Ray, Ultrasound, Vascular and MR, as well as a full suite of Healthcare IT solutions, across the globe. In line with our continued Made for Life philosophy, patients are at the heart of everything we do. Our mission is to provide medical professionals with solutions that support their efforts in contributing to the health and wellbeing of patients worldwide. Our goal is to deliver optimum health opportunities for patients through uncompromised performance, comfort and safety features.

Read more from the original source:
Canon Medical to commence development of a rapid genetic testing system for the novel coronavirus (COVID-19) - DOTmed HealthCare Business News

A rare disease is defined as any disease that affects a small percentage of the population. In the United States, a disease is classified as rare when fewer than 200,000 individuals are affected by it. According to the National Institutes of Health, there are approximately 6,500 to 7,000 known rare diseases affecting an estimated 25 million Americans.

One of these is Loeys-Dietz Syndrome (LDS), a disorder of connective tissue that can affect blood vessels, including the aorta, as well as bones, joints, cognitive ability and internal organs.

Here, Michigan Medicine cardiologist Marion Hofmann, M.D., who typically treats 10 to 15 Loeys-Dietz patients each year, sheds some light on this complex rare disease.

LDS is caused by a mutation in the TGFBR1, TGFBR2, SMAD3, TGFB2 or TGFB3 genes, as we know today. More could be identified in the future.

Loeys-Dietz Syndrome is a genetic condition, but not always inherited. In patients with the condition, we usually recommend genetic testing of the parents and siblings to see if it is inherited or if it is a new mutation. If the parent or siblings of a patient diagnosed with LDS do not test positive for the genetic variant, we assume the variant is present for the first time in one family member. This occurs in approximately 75% of LDS cases. There is a 50% chance the gene will be passed on regardless of whether LDS was inherited or a first time mutation.

Because relatively common symptoms can camouflage LDS, the condition may go undiagnosed until a serious complication occurs. Patients might be diagnosed with Loeys-Dietz after an aortic aneurysm (a weakened or bulging area on the wall of the aorta) is found on a CT scan or echocardiogram, or after experiencing a life-threatening aortic dissection (a tear in the inner layer of the aorta) or a dissection in other arteries. If a patient experiences either of these vascular conditions, we would likely suggest genetic testing to determine if Loeys-Dietz Syndrome was the cause.

In approximately 20% of patients experiencing an unexplained aortic dissection, we find gene abnormalities, including LDS, that predispose to aortic disease.

MORE FROM MICHIGAN: Sign up for our weekly newsletter

Some patients, but not all, are diagnosed because of certain skeletal characteristics that point to Loeys-Dietz. These include a chest wall deformity in which the chest wall pushes outward or appears sunken, scoliosis, long and slender fingers, flexible joints, flat feet, translucent skin, abnormal scarring of the skin and a bulging or widening of the spinal sac surrounding the spinal cord. However, the spectrum of the disease is very broad and were finding that not all LDS patients exhibit these characteristics.

Genetic testing confirms a suspected LDS diagnosis. Other similar disorders such as Marfan Syndrome and Ehlers-Danlos Syndrome can present similar characteristics, so genetic testing is important to differentiate these disorders. In recent years weve realized just how complex LDS is. As clinical genetic testing is more commonly used, diagnostic accuracy for LDS has improved and were learning more about how LDS presents. For example, were finding that family members carrying the same mutation are affected differently. Cardiac and genetic evaluation of all family members is important for patients with LDS to identify other relatives at risk for the condition.

Patients with Loeys-Dietz need regular checkups and vascular imaging to identify high-risk situations that could lead to aortic dissection. We recommend medication to avoid high blood pressure, which puts stress on weakened areas of the aortic wall, lifestyle modifications and preventive surgery to treat aortic aneurysms deemed to be at high risk for dissection. Patients with LDS are typically prescribed beta blockers or angiotensin receptor blockers.

Like Podcasts? Add the Michigan Medicine News Breakto your Alexa-enabled device orsubscribe for daily updates oniTunes,Google PlayandStitcher.

Anyone experiencing an aortic dissection or an aneurysm requires lifelong care as they are more likely to have a future event. Patients with LDS require special counseling for family planning and during pregnancy.

Additional information comes from nationwide patient support groups and their symposiums. The U-M Frankel Cardiovascular Center, in collaboration with the Marfan Foundation, is hosting the Detroit regional symposium for Marfan Syndrome and related disorders on April 25, 2020.

Weve been able to gain important knowledge about LDS and other aortic-related conditions through worldwide collaboration of researchers interested in LDS and aortic dissection in general. The International Registry on Aortic Dissection was launched in 1996 and the Montalcino Aortic Consortium was formed in 2013 to collect and share information about the genetic causes of aortic dissection. The next GenTAC Aortic Summit, which is committed to advancing research, education and treatment of heritable aortic diseases, will be held October 10 and 11, 2020, in Ann Arbor, Michigan, and will be hosted by Michigan Medicine cardiologist Kim Eagle, M.D. Through these resources, were learning more about the condition and gaining insight into diagnosis and treatment advancements.

Importantly, 10-20% of patients with a history of what was thought to be sporadic or unexplained aortic dissections actually have an identifiable genetic cause, including LDS. Being able to pinpoint the genetic causes of disease is very powerful. It allows health care providers to use a gene-based medical management strategy, which is the goal of personalized medicine. Genetic counseling and potentially genetic testing is very important for family members of patients with unexplained aortic dissections as well as with Loeys-Dietz Syndrome.

Read the original here:
Loeys-Dietz Syndrome A Rare and Complex Heart Disease - University of Michigan Health System News

I love working with people, says Allison Werner-Lin of the School of Social Policy & Practice (SP2). Werner-Lins office overlooking Locust Walk is homey and lamp-lit, with student gifts sharing space with scholarly tomes. This is just one of her workspaces, however. Recently returned from sabbatical, Werner-Lin has been working with the National Cancer Institute (NCI), as well as out of her home in upstate New York, which doubles as a private practice for families seeking bereavement therapy. The divide between academia and clinical practice suits her. I feel like I have one foot in each world and in a very positive way, Werner-Lin says.

Werner-Lin has extensive clinical and research experience and uses both to inform her work, which centers on heritable cancers. She began her academic work studying young adults with mutations in genes associated with breast and ovarian cancer, BRCA1 and BRCA2. Recently, her work with the NCI has branched out to the study of Li-Fraumeni syndrome (LFS). Patients with LFS have a mutation in a tumor-suppression gene, resulting in a high incidence of cancer starting in childhood, and 50% of LFS patients develop cancer by age 40. Both patient populations make life-altering decisions based upon their family histories and medical diagnoses.

Dr. Werner-Lins groundbreaking research merges science with social work at the intersection of qualitative health research, the structure and evolution of genes, hereditary cancer, and how it impacts individuals and families at various stages of life, says SP2 Dean Sara Sally Bachman. Each day, Allison is pushing the frontiers of genomic study and oncological social work while also mentoring other social change agents who will undoubtedly make a difference locally, nationally, and internationally.

For more than a decade, Werner-Lin has worked in the Clinical Genetics Branch of the Division of Cancer Epidemiology and Genetics of the NCI organizing the human side of research. Patients come annually to the NCI to receive full-body MRI cancer screenings and participate in data collection that covers everything from cancer history to family communication to risk management. Werner-Lin mentors an interdisciplinary team of predoctoral and postdoctoral fellows to explore how these families understand and cope with genetic information. Her work is used to train providers in delivering holistic medical and psychological care.

We talk with families about their experiences communicating cancer-risk information with loved ones, making reproductive decisions, and managing the endless cycle of screening, Werner-Lin says. She has seen patterns in how families share cancer-risk information and seek support, noting that information travels based on relationship patterns and emotional closeness, not necessarily degree of risk.

People with LFS have limited options for cancer prevention, and expectations for a cancer diagnosis and early death are common. Were seeing a lot of physical loss, where amputations and other changes in physical function are common consequences of treatment.

Many of the people Werner-Lin speaks with are looking at different pathways to parenthood or are choosing not to have children at all, she says. Grief becomes a chronic part of their lives, and those kinds of sustained of losses can connect individuals in and across families.

Former SP2 graduate student Catherine Wilsnack is a Cancer Research Training Award Fellow at the NCI, doing qualitative research as part of Werner-Lins team. Wilsnack first met Werner-Lin while in her second year at SP2 and calls the encounter transformative. Werner-Lin is a phenomenal mentor in every way, says Wilsnack, who earned her masters in social work (MSW) in 2019. She always goes above and beyond for her students. I would not be where I am today if it were not for her and her guidance, so I just feel extremely lucky.

Now in midcareer, Werner-Lin is taking the time to mentor younger generations. There are so many opportunities to focus on other peoples career development without such a bounded focus on my own professional needs, she says, crediting her own mentors with the ability to achieve professional success.

At Penn, Werner-Lin is involved in the Cancer Moonshot initiative led by Katherine Nathanson and Steve Joffe, an effort designed to accelerate cancer research aimed at prevention, detection, and treatment. Werner-Lins aspect of the project, based at the Abramson Cancer Center at Penn Medicine, involves issues surrounding genetic testing in people aged 18 through 40. Susan Domchek, executive director of the Basser Center for BRCA, says, Allisons work in terms of the psychosocial implications of having a BRCA mutationhow an individual can come to terms with that and how that information gets disseminated between familieshas been extremely helpful. She has a deep expertise on helping families navigate these situations.

Approximately 1 in 400 people carry mutated breast cancer genes, though mutations are more common in certain groups of people. The gene mutations are passed in an autosomal dominant pattern, meaning each parent with a mutation has a 50% chance of passing it on. Children of a BRCA-positive parent can pursue genetic testing to learn if they carry the mutation, adding pressure to family planning.

Werner-Lin was one of these children. Her mother has a BRCA1 mutation. She recovered from colon cancer when Werner-Lin was in college and is currently in remission from a rare ovarian cancer. When I was 23 and was thinking about having kids, I couldnt figure out how to do it, Werner-Lin says. I started talking to people, talking to other women, and that became my dissertation.

This curiosity and compassion led Werner-Lin to operate a private therapy practice out of her home, where she exclusively sees children and young adults with a deceased parent. People often dont see how therapy is connected to the genetics part of my work, but for me they are inseparable, Werner-Lin says. In my cancer work, parents often die young, leaving small children. Frequently, the children of cancer patients conflate their parents lives with their own, not seeing options, degrees of freedom, or technological innovation.

Working together with an MSW student, Werner-Lin does whole family-therapy, from diagnosis to end-of-life, through the grieving process. She helps to facilitate goodbyes, talks about legacy building, and makes the concept of death more concrete for young people.

The language adults use to talk about death is often confusing and shrouded in existential concepts, Werner-Lin says, citing references to angels or going to a better place. Young kids dont necessarily understand time or geography, she says. If were in New York, and Mommy went to the other side, is that a better place?

Instead, she says, we talk about the brain being a light switch, and once you turn it off you cant turn it on again. We talk about how the heart stops beating and the eyes stop seeing. These practical realities are important, Werner-Lin says. Kids need to understand the way the world is predictable, especially when people they love and need can fall off the earth at any moment.

Now back on campus, Werner-Lin is focusing on teaching and engaging with her graduate students. Acting in service to her patients, her students, and her colleagues is a core part of Werner-Lins brand of academia. If you tell her that you want to do something, Wilsnack says, she will go out of her way to help.

See original here:
Working on 'the human side' of heritable cancers - Penn: Office of University Communications

SELBYVILLE, Del., Feb. 27, 2020 /PRNewswire/ -- Global Market Insights, Inc. has recently added a new report on genetic testing market which estimates the global market valuationfor genetic testing will cross US$ 28.5 billion by 2026. A growing demand for DTC genetic testing will drivemarket expansion over the forecast period. Genetic testing can project the risk of diseases, identify carriers and establish diagnoses. DTC genetic testing can help individuals identify ancestral origins and predisposition to certain illnesses. This can enable individuals to prepare or prevent the onset of certain diseases. Increasing awareness among people regarding their health will drive industry growth.

Growing adoption of genetic testing in oncology and genetic diseases in North America will propel the market expansion. Genetic testing to determine the probability of cancer and rare diseases helps in planning the treatment. Genetic testing helps in the formulation of the most effective treatment for cancer and other diseases. Hence, the growing application of genetic testing in cancer and genomic disorders will fuel the genetic testing market growth.

Requesta sample of this research report @https://www.gminsights.com/request-sample/detail/2490

Nutrigenomic testing was valued at USD 408.9 million in 2019 and will witness significant growth over the forecast period. Nutrigenomic testing determines how genetic variations change the individual reaction to nutrients. Nutrigenomic can assist with optimum nutritional planning. Rising incidence of obesity due to increased consumption of junk food and sedentary lifestyle will fuel the segment growth over the forecast period. Furthermore, growing awareness regarding customized diets will fuel market growth.

The cancer testing market held nearly 52% market share in 2019 and will exhibit robust growth in the forecast period. The growth can be attributed to the advancements in genetic testing that can confirm the diagnosis. Furthermore, genetic testing can help with the formulation of the most effective drugs for the treatment of cancer, improving patient outcomes. These factors will boost the growth of the cancer testing segment.

The European genetic testing market held a substantial value in 2019 and is poised to exhibit nearly 13% CAGR over the forecast period. The growing geriatric population will boostdemand for genetic testing in the region. Furthermore, presence of key market players in the region will positively impact the technology adoption. Additionally, favorable government initiatives to harmonize genetic testing and ensure accurate and reliable results will boost market growth.

Browse key industry insights spread across 146 pages with 138 market data tables & 8 figures & charts from the report, "Genetic Testing Market Share & Forecast, 2020 2026" in detail along with the table of contents:

https://www.gminsights.com/industry-analysis/genetic-testing-market

Some major findings of the genetic testing market report include:

Few notable players in the genetic testing market share are 23andME, Abbott Molecular, Bayer Diagnostics, Cepheid, Counsyl, PacBio, Illumina Inc., Qiagen, Roche Diagnostics, BioCartis, and Siemens. The market players are adopting strategies such as innovative product launches and acquisitions to expand their customer base and market share.

Make an inquiry for purchasing this report @https://www.gminsights.com/inquiry-before-buying/2490

Partial chapters of report table of contents (TOC):

Chapter 2. Executive Summary

2.1. Genetic testing industry 360synopsis, 2015 - 2026

2.1.1. Business trends

2.1.2. Test-type trends

2.1.3. Application trends

2.1.4. Regional trends

Chapter 3. Genetic Testing Industry Insights

3.1. Industry segmentation

3.2. Industry landscape, 2015 - 2026

3.3. Industry impact forces

3.3.1. Growth drivers

3.3.1.1. Physician adoption of genetic tests into clinical care

3.3.1.2. Technological advancements and availability of new tests

3.3.1.3. Growing application of genetic testing in oncology and genetic diseases in North America

3.3.1.4. Consumer interest in personalized medicines in Europe

3.3.1.5. Growing demand for direct-to-consumer genetic testing

3.3.2. Industry pitfalls & challenges

3.3.2.1. High costs of genetic testing

3.3.2.2. Dearth of experienced professionals and advanced infrastructure in developing and underdeveloped economies

3.4. Growth potential analysis

3.4.1. By test type

3.4.2. By application

3.5. Regulatory landscape

3.5.1. U.S.

3.5.2. Europe

3.6. Market share analysis, 2018

3.6.1. Market share analysis, by North America, 2018

3.6.2. Market share analysis, by Europe, 2018

3.6.3. Market share analysis, by Asia Pacific, 2018

3.6.4. Market share analysis, by Latin America, 2018

3.6.5. Market share analysis, by Middle East & Africa, 2018

3.7. Porter's analysis

3.8. Competitive landscape, 2018

3.8.1. Strategy dashboard

3.9. PESTEL analysis

About Global Market Insights

Global Market Insights, Inc., headquartered inDelaware, U.S., is a global market research and consulting service provider, offering syndicated and custom research reports along with growth consulting services. Our business intelligence and industry research reports offer clients with penetrative insights and actionable market data specially designed and presented to aid strategic decision making. These exhaustive reports are designed via a proprietary research methodology and are available for key industries such as chemicals, advanced materials, technology, renewable energy and biotechnology.

GMIPulse,our business analytics platformoffers an online, interactive option of exploring our proprietary industry research data in an easy-to-use and dynamic manner. Clients get to explore market intelligence across 11 top-level categories and hundreds of industry segments within them, covering regional, company level and cross-sectional statistics that make our offering a stand-out for decision-makers.

Contact Us:

Arun HegdeCorporate Sales, USAGlobal Market Insights, Inc.Phone:1-302-846-7766Toll Free:1-888-689-0688Email:sales@gminsights.com

Related Images

genetic-testing-market-size-will.jpg Genetic Testing Market size will exceed $28.5 Bn by 2026 Genetic Testing Market size slated to surpass USD 28.5 billion by 2026, according to a new research report by Global Market Insights, Inc.

Related Links

Direct-to-Consumer Genetic Testing Market

Prenatal and New-born Genetic Testing Market

SOURCE Global Market Insights, Inc.

Read more:
Genetic Testing Market demand to hit USD 28.5 Bn by 2026: Global Market Insights, Inc. - PRNewswire

Its hard enough for any cancer patient to get into clinical trials. Its even harder for a patient with a rare cancer like Todd Mercer.

Mercer, a 52-year-old defense industry professional, lives in Michigan with his wife and their two teenagers. At age 50, Mercer got a colonoscopy, as is recommended for people his age, and received a clean bill of health. Six weeks later, his appendix burst.

The diagnosis, which came in December 2017, was cancer of the appendix. It was the tumor that had ruptured his appendix just beyond the reach of the endoscopic exam meaning his cancer was effectively stage 4 at diagnosis. Mercers cancer has since spread to his liver and lungs.

advertisement

Mercer first started looking for clinical trials in November 2018, after his cancer recurred for the first time. Since then, hes been turned down from five studies, and is now trying to get into a sixth.

Mercer recently called in to STATs podcast The Readout LOUD to talk about his experience hunting for a trial that will be willing to take him. Its an experience thats frustratingly familiar in a system in which only about one-seventh of adult cancer patients who are eligible to enroll in clinical trials actually sign up.

What kinds of trials are you looking at?

Originally, I looked at clinical trials that were new and exciting and seemed to have some science behind them that might be promising. Lately, though, Ive done some genetic testing thats revealed some genetic information that is leading me towards trials that are designed for the particular blockades or the phenotypes that my genetic testing has introduced. So, now, Im actually being more strategic about my trial hunt.

Ill be lucky to see five years, and I almost wont see 10 years. There are only a few things that I can do directly to affect the outcome.

Why is it important to you to enroll in a clinical trial?

For me, its hope. And its a little bit of hope for others as well.

If I look online, if I look at the data, I can see the trajectory of where my disease is headed with standard of care. Ill be lucky to see five years, and I almost wont see 10 years. There are only a few things that I can do directly to affect the outcome thats understanding my diagnosis, understanding my cancer, becoming an advocate for myself, for my treatments, for my care.

I can also look out at whats on the horizon: What other new drugs and new treatments are out there that are helping people? And some of those are in trials, or at least thats my hope. New drugs are being created all the time. There has been promise in other cancers, and so Im looking for that promise in my cancer.

Youve tried to get into five clinical trials and were turned away. Tell us some of the reasons why you were unable to participate in those studies.

For me, the tumor origination in my appendix was my number one obstacle. A lot of trials are designed to enroll only people whose cancer originated in a particular organ. Thats because drug makers are often seeking FDA approval only for cancer with that particular site of origin. And so trials are very careful about which patients they let into the trial because it wont do them any good to collect data on someone with an orphan disease like mine. Not all trials are prohibitive of appendiceal cancer, but many of them are.

Number two for me and so this probably affects more people is something called measurable disease. When you have measurable disease, that means your cancer has formed in such a way that doctors can do a particular measurement. For example, a radiologist can do a measurement to say how large your cancer is to begin with and then how much the treatment affects it in terms of percentage. Is it growing by 10%? Is it shrinking by 20% or 30%? If you dont have measurable disease, many trials wont take you because then they cant get those data.

But theres another factor called evaluable disease, which means the cancer may not be technically measurable but it can still be evaluated. Some clinical trials will use that characteristic. And so I have to find an evaluable trial because, so far, my cancer hasnt been measurable. Now, it could develop that way, but for now, I have to look at other things.

And then Id say the third biggest obstacle for me is exposure. If youve already been exposed to a drug thats in the trial, many trials will exclude you from being in that study. They want virgin candidates who have never been exposed to those particular drugs before, so they know that its the way the drug is administered in the study thats affecting the outcome.

Which kinds of drugs have you been exposed to so far?

Because of my particular situation with an orphan disease, my oncologist has been open to trying some drugs off-label, meaning well do a trial of one for just me. Hell request the drugs, and then we will design a trial that mimics a trial that might be out there at an institution. So he has a pretty good idea of its safety profile and that the drugs arent going to interact inappropriately.

I tried an immunotherapy drug in that situation. And then once I did that, it didnt work. That now prevents me from most trials that have that particular drug in it. I wanted to try it because I wanted to try immunotherapy. Thats a big hope out there for a lot of cancer patients, that can not only bring you into remission, but possibly a cure. So I wanted to expose myself to that, but the tradeoff is that I cant apply to some other trials.

This is not a unique situation in terms of patients getting access to clinical trials. What are you hearing from fellow patients about why theyre getting rejected and how they feel about it?

I havent run into this, butsome people get turned down as they get sicker and sicker ,and their blood work comes back with higher enzymes or is deemed out of tolerance. So, theyre not allowed into the trials as theyre too sick. So we try to advocate to people with cancer: Dont wait until the very end to try trials. Try them while youre still healthy enough to test the medicine, when theyll take you.

People can also be shut out of trials even they meet a trials inclusion criteria. Cost is a big obstacle. The trial will usually pay for the drugs, but a lot of the time it wont pay for the travel to get there, or the doctor exams and the radiology exams, and things like that. So if you dont have good insurance, those costs would become out-of-pocket costs.

Location is another obstacle. Im lucky Im healthy enough to travel right now, so I can get to a trial anywhere. But a lot of people arent either financially or health-wise able to travel to some of these trial locations.

There can, of course, be sound medical and scientific reasons why certain patients arent allowed to enroll in a trial; the goal of scientific research, after all, is to evaluate an experimental treatment as rigorously as possible. But at the same time, theres a growing line of thought that certain exclusion criteria are overly restrictive, especially when so many clinical trials go unfilled. From your vantage point as a patient, how do you think these concerns should be balanced?

Things are restrictive. I mean, cost, location, the exclusion criteria. I try to look at it a little bit differently.

There are a lot of trials out there and a lot of patients. But the trials dont necessarily always publish what their target is. What is the science behind the trial? Are they attacking a particular mutation, a typical blockade, a phenotype? What science directed them to try that combination of drugs or develop that new drug? What are they trying to determine? That needs to be a required piece of information about trials.

And then correspondingly, the patients and the doctors need to be educated on the value of genetic testing.

No patient should ever be diagnosed with cancer without getting genetic testing. That way, you learn what the particular characteristics of your cancer, of your tumor are, what mutations you have, what your blockades are? And if you have that information about your cancer, and the trial is making that information available about what theyre targeting, then youre going to be more desirous of getting into that trial.

So itll incentivize the patients and the doctors to seek out those trials. And then if those trials know that there is a population of patients out there with those particular characteristics that theyre looking for, then theyre incentivized to reach out to those doctors and those patients to find them, to make those matches. Youve got to match the two.

And really, there just needs to be a platform that matches the patients to the trials, and the trials to the patients. Right now, there are for-profit companies out there working on this. Its a large endeavor to gather patient information. Theres all kinds of privacy ramifications. But the problem is theyre selling that information to institutions. So the institution has to buy the information to understand the patient population, the trial population. It becomes problematic very quickly for that information to get into the hands of the doctor, into the hands of the patients, or the hands of the trials where those patients are. Its not being done right now.

Youre now trying to get into a sixth trial. Tell us where things stand there.

So far, its encouraging. It has been delayed, though.

My genetic mapping indicates that there are two drugs that are my highest blockades. And this particular trial has those two drugs in it.

Dont wait until the very end to try trials.

The problem is its a first-in-humans Phase 1 trial. Theyre doing a dose escalation meaning they start by enrolling three people and start them out at a minimal dose. And then when those three people dont have any adverse reactions, then they incorporate three more people and they increase the dose. And then if they dont have any adverse reactions, then three more and then three more until they find out what the maximal tolerating dose is.

The way they they recruit for it, they dont really open slots until theyre ready for the next three people. So Ive located the trial. It happens to be 30 minutes from where I live. So its very fortuitous.

I attended the ASCO-GI conference in San Francisco last month. I just so happened to be flying back from San Francisco to Michigan, and I sat down next to the trial director for the trial that I wanted to get into. So I was able to strike up a conversation and find out where it was with his particular institution, if there were openings or not. And the problem is: no slots have been opened because theyre still waiting for the dose escalation process to work its way out.

I was progressing on my previous treatment, so I was getting sicker and couldnt wait for the slot to open. Im now recycling the previous treatment that I was on last year to see if it will have some effectiveness, just to get me through until potentially a slot opens up. And then I will go through a 28-day detox period where they want no chemo or medicines in your system so that when you do get to the trial, they can better gauge the results. The idea is to show its not residue medicine in my system, its the actual trial drugs, that are making an effect.

Please keep us updated when you get word on that trial. Were rooting for you.

I absolutely will.

This is a lightly edited transcript from a recent episode of STATs biotech podcast, The Readout LOUD. Like it? Consider subscribing to hear every episode.

Read more here:
Rejected from five clinical trials, a cancer patient waits for one to say yes - STAT

CIBC Innovation Banking is pleased to announce a US$10 million growth capital financing for InformedDNA.

Founded in 2005, InformedDNA was built with the vision to provide genetic testing services to patients and health insurers. The company optimizes genetic-related healthcare spending and patient care by improving access to clinical and scientific genomics expertise. It is the nations largest independent provider of genetic specialists enabled by a comprehensive evidence-based knowledge library for genetic tests and hereditary conditions.

InformedDNA recently announced a strategic growth investment with private equity funds TT Capital Partners, NovaQuest Capital Management, and Frist Cressey Ventures. The company will use the capital to continue scaling its technology and expand its staff of genetic counselors.

"InformedDNA has a deep understanding of the genetic testing space and uses this knowledge to help both patients and insurance companies improve outcomes," said Jeff Chapman, a Managing Director in CIBC Innovation Bankings Menlo Park office.

"CIBC Innovation Banking understands the capital needs of our business and is willing to provide a flexible debt solution so we can continue to execute on our business strategy," added David Nixon, CEO of InformedDNA.

About CIBC Innovation Banking

CIBC Innovation Banking delivers strategic advice, cash management and funding to North American innovation companies at each stage of their business cycle, from start up to IPO and beyond. With offices in Atlanta, Austin, Chicago, Denver, Menlo Park, Montreal, Reston, Toronto and Vancouver, the team has extensive experience and a strong, collaborative approach that extends across CIBCs commercial banking and capital markets businesses in the U.S. and Canada.

About InformedDNA

InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest full-time staff of independent, board-certified genetics specialists in the U.S. to help ensure health plans, hospitals, employers, clinicians and patients all have access to the highest quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and expert genetics clinical trial support. For more information: http://www.InformedDNA.com

View source version on businesswire.com: https://www.businesswire.com/news/home/20200227005493/en/

Contacts

Kathryn Lawler, 416-242-1943kathryn.lawler@cibc.com

Read more:
CIBC Innovation Banking Provides InformedDNA With US$10 Million Growth Financing - Yahoo Finance

When a patient in a hospital gets a new infectionsomething that happens often when someones immune system is compromiseddoctors still typically rely on the same tests theyve used for decades to figure out whats wrong. Running through a battery of lab tests takes time; to identify bacteria, for example, labs still put samples in a petri dish and wait to see which germ appears, a process that can take days or even weeks.

A startup called Karius, which announced this week that it raised $165 million in a funding round led by SoftBank, uses a different approach, taking a single sample of blood and using genetic testing to quickly identify more than 1,400 pathogens, including bacteria, fungi, viruses, and parasites. The doctor usually gets the results the next day.

One of the main problems with infectious diseases is that its really hard to diagnose which specific microbe is causing the infection, says Karius CEO Mickey Kertesz. Different microbes can cause the same symptoms. A doctor might guess that its a bacterial infection, and a few days later learn that it isnt. Then they might test for a fungal infection and learn that also is incorrect. Its a fairly long and tedious process until the patient is eventually diagnosed.

The traditional process also typically involves invasive tests such as taking samples of internal tissue, and the new process can avoid that. When microbes infect patients, they shed their DNA into the bloodstream, and thats what Karius is searching for. In a study at Luries Children Hospital in Chicago, researchers found that using the new process in the first round of testing could have avoided 34 invasive tests.

In some cases, traditional testing may not even be possible. We had a patient that had a brain mass in an area that neurosurgery would not be able to go and do a biopsy, says Laila Woc-Colburn, a doctor and associate professor of infectious disease at Baylor College of Medicine in Houston who works with patients with HIV and has used the new testing service. The patients symptoms could have been from one of two different diseases. Woc-Colburn was able to use genomic testing to confirm which disease the patient had so treatment could begin.

The company targeted the service first at patients with compromised immune systems, including cancer patients undergoing chemotherapy. Many cancer patients are lost to infections, not to their underlying cancer, because it is so hard to diagnose what it is that is infecting them, says Kertesz. In a study last year with St. Judes Children Hospital involving children who had bone marrow transplants, researchers found that Kariuss tech could identify infections before children felt any symptoms. If this type of testing could be used in a routine way, it could potentially save lives. The problem is that by the time you know that the child is infected, and by the time you diagnose them, this is in many cases too late, he says. The fungal or bacterial or viral infection is so strong at that stage.

The testing is generally as accurate as traditional testing. (Unlike Theranos, a startup that also touted fast analysis of blood samples but was later proven to be fraudulent, more than a dozen peer-reviewed papers have been published demonstrating that Karius works in different patient types.) The technology can also identify pathogens that dont appear on other tests, such as more than 30 species of the Legionella bacterium. Because the tech uses machine learning, sorting through tens of millions of data points to identify pathogens, it will also get more accurate over time as its used more.

The catch: Its expensive. Hospitals or clinics are billed $2,000 per test. The company argues that this can often be less expensive than the alternative of running multiple tests or keeping someone hospitalized longer. But its still a barrier. Karius is not a cheap test, says Woc-Colburn. She also says it doesnt work perfectly yetin liver transplant patients, for example, who have a disease called leaky gut where bacteria may leak from the intestinal wall to the bloodstream, the test picks up that bacteria even though it doesnt indicate an infection. Still, she says, she expects it to continue to improve and the cost to come down. This type of test will be the future, she says. But were still in the early stage.

Kertesz says that the cost of DNA sequencing is rapidly dropping, and its own cost will continue to come down as it scales up, so this type of testing could become common even in routine cases. I see a future where genomics and technology like ours are completely displacing most, if not all, existing technologies, he says.

View post:
Karius quickly tests blood for more than 1,400 pathogens - Fast Company

New executive talents join InformedDNA to help further its impact on the growth of genetics and genomics in mainstream medicine

InformedDNA, the nations largest independent provider of genetics services, today announced the addition of healthcare industry veterans to its executive leadership team and its board of directors. Paul Danao has joined the company as chief growth officer, responsible for driving revenue growth and retention through sales, marketing and client management. Dr. Jacqueline Kosecoff, a renowned healthcare industry expert, has joined InformedDNAs board as an independent director.

Founded in 2007, InformedDNA was the first company in the U.S. to use telephonic services to connect genetic counselors to patients. Since then, it has expanded to provide technology-led services to patients, healthcare providers, health systems, health plans, and life science organizations.

"While the healthcare industry is in the infancy of a genomics revolution, its crucial for health systems, payers and providers to determine now how to infuse the rapid pace of discoveries into the healthcare ecosystem," said David Nixon, chief executive officer at InformedDNA. "Jacqueline and Paul both have extensive executive leadership experience at major health plans and health systems. Each will no doubt make substantial contributions to InformedDNA, in their respective roles, as we help bring about a future in which genomics expertise will inform most healthcare decision-making, enabling true precision medicine to become a ubiquitous reality."

Dr. Kosecoff works in private equity to identify, select, mentor and manage health services and IT companies. She is managing partner at Moriah Partners, LLC, and senior advisor at Warburg Pincus. Previously, she served as a senior executive with UnitedHealth Group-PacifiCare where she was chief executive officer of OptumRx. Dr. Kosecoff was founder, president and chief operating officer of Protocare, and earlier, served as professor of Medicine and Public Health at the University of California, Los Angeles. She holds a B.A. from the University of California, Los Angeles, an M.S. in Applied Mathematics from Brown University, and a doctorate from the University of California, Los Angeles.

Said Dr. Kosecoff, "Having been involved with InformedDNA as an advisor for the last year, Ive seen first-hand how the company brings a rare depth of genomics expertise to the healthcare industry, leading it to experience more than 50 percent annual growth in each of the last two years. I look forward to my new director role and increased interaction with the companys leaders as we enable additional healthcare companies to better understand the genomics space. This will facilitate better genetics-related decisions that result in more personalized care, improved outcomes, and lower costs."

Danao will focus on aligning sales, marketing and client management activities to deliver consistent and high-value contact to accelerate customer acquisition and retention. Prior to joining InformedDNA, he held senior leadership roles at several healthcare technology and service companies, including BlueCross BlueShield Association, AIM Specialty Health, and Healthcare Payment Specialists. Danao holds a B.B.A. from the University of Michigan and a Master of Health Services Administration from the University of Michigan School of Public Health.

"This is a transformational time in the era of genetics-based medical care. InformedDNAs continued commitment to maintaining the highest level of genetics expertise and service excellence has already helped many leading U.S. healthcare organizations to decode the business of genetics," said Paul Danao, InformedDNAs new chief growth officer. "Its with much enthusiasm that I join such a talented team of professionals to lead the companys sales and marketing initiatives for services that guide healthcare providers clinical decisions, help shape clinical trial processes, and enable insurers to craft evidence-based coverage policies for genetic tests."

About InformedDNA

InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest, full-time staff of independent, board-certified genetics specialists in the U.S. to help ensure that health plans, hospitals, employers, clinicians and patients all have access to the highest quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and expert genetics clinical trial support. For more information: http://www.InformedDNA.com

View source version on businesswire.com: https://www.businesswire.com/news/home/20200227005307/en/

Contacts

Julia Searcy, MERGE Atlanta for InformedDNA: jsearcy@mergeworld.com, 678.879.1929

See original here:
InformedDNA Recruits New Chief Growth Officer, Welcomes Industry Veteran to Board of Directors - Yahoo Finance

Those with diseases that arent fatal often spend years going from doctor to doctor getting different tests done to try and figure out whats going on, if there isnt a specialist available. It can be difficult for a doctor to diagnose a disease if they havent seen or heard of it before, which can lead to frustrated or discouraged patients.

Having a rare disease that makes you stand out, whether affecting your physical appearance or how youre able to interact with others, can be depressing. Living in the unknown about what it is that made that person different can add an emotional burden.

This is why in 2008, Rare Disease Day was established by EURODIS and is celebrated the last day of February every year. The goal is to raise awareness of rare diseases, connect those affected across the globe, inspire research and educate decision makers.

MORE FROM MICHIGAN: Sign up for our weekly newsletter

Discovering disease mechanisms can lead to breakthroughs and novel treatment pathways, Oral says. Only 450 of 7,000 rare diseases have specific or certified therapies. We must recognize the importance of finding these treatments. She adds that understanding the mechanism for the disease may provide information that has implications for common chronic diseases as well, like diabetes.

Deep gene sequencing may also lead a researcher to making a discovery that opens an opportunity for drug repositioning or applying an available drug for treating a condition different from the original treatment purposes. And because most rare diseases are genetic, according to Oral, genetic testing is important for a family that may want to be aware of carrier status for current family members, as it may influence further family planning decisions.

For all of these reasons, Oral, together with the University of Michigan student-run organization Care About Rare and Najoua Elbourkadi, Ph.D., from Fast Forward Medical Innovation, organized a symposium dedicated to recognize rare diseases which took place February 21.

This is a hopeful time in the study of rare diseases. We have technology that can look at the differences in our genome very deeply, and also at tissues for the expression of those genes. Its quicker and at a much lower cost than before, Oral says. Were on the brink of a revolution.

Read the original here:
The Reality of Being Rare - Michigan Medicine

SUNNYVALE, Calif., and CAMBRIDGE, Mass., Feb. 28, 2020 /PRNewswire/ --CepheidandSherlock Biosciences today announced a research collaboration between the two companiesto explore the development of new cutting-edge molecular diagnostic tests. Leveraging Sherlock Biosciences' engineering biology platform, SHERLOCK,a CRISPR-based technology that can identify virtually any genetic target, new tests could be designed to run on Cepheid's GeneXpertSystems.The collaboration will focus on molecular diagnostic tests for infectious diseases and oncology, beginning with a proof-of-concept project focused on detection of coronavirus (SARS-CoV-2).

"This partnership will allow us to explore utilizing Cepheid's easy-to use-cartridge to further develop targeted molecular tests that better address outbreak scenarios," saidDavid H. Persing, M.D., Ph.D., Cepheid's Chief Medical and Technology Officer. "With a global installed base of over 23,000 GeneXpert Systems, this technology could potentially be applied in multiple settings where actionable treatment information is needed quickly."

The companies plan to jointly pursue grant opportunities to further push development of newer molecular diagnostic tests to allow future GeneXpertusers access to expandedtest menu and capabilities. The companies may pursue opportunities in infectious diseases and oncology, including exploring how better to address outbreak scenarios.

"SHERLOCK is an ideal platform for rapid response and development for any global outbreak, while also a powerful tool for affordable and rapid molecular diagnostic testing for routine assays," said Rahul Dhanda, Sherlock's Co-Founder, President and Chief Executive Officer. "We are excited to work on bringing our breakthrough CRISPR technology to Cepheid's revolutionary GeneXpert platform, which should enable our companies to provide potential diagnostic solutions for a range of applications including infectious diseases and oncology. Initially, we will explore the compatibility of our technologies for coronavirus detection, while pursuing a broad set of solutions that enable users to make more effective decisions in both clinical and non-clinical settings worldwide."

About GeneXpert Systems and Xpert TestsThe GeneXpert System's modular configuration makes it the most scalable molecular diagnostic system available, offering the ability to perform from one to eighty Xpert tests at the same time.The Xpert test menu spans healthcare-associated infections, sexual health, critical infectious disease, and oncology offering 28 tests outside the United States, and 20 tests in the United States.

About CepheidBased in Sunnyvale, Calif., Cepheid a leading molecular diagnostics company that is dedicated to improving healthcare by developing, manufacturing, and marketing accurate yet easy-to-use molecular systems and tests. By automating highly complex and time-consuming manual procedures, the company's solutions deliver a better way for institutions of any size to perform sophisticated genetic testing for organisms and genetic-based diseases. Through its strong molecular biology capabilities, the company is focusing on those applications where accurate, rapid, and actionable test results can impact patients most, such as managing infectious diseases and cancer. For more information, visithttp://www.cepheid.com.

About the SHERLOCK PlatformThe SHERLOCK platform enables the development of diagnostics that are better, faster and more affordable, which could diagnose virtually any disease rapidly, accurately, inexpensively and without the need of complex lab instruments, allowing for actionable results in virtually any setting.

SHERLOCK (SpecificHigh SensitivityEnzymaticReporter unlocking) platform is an evolution of CRISPR, a powerful technology used to make precise edits in genetic code. SHERLOCK leverages CRISPR-Cas12 and Cas13 to detect the unique genetic fingerprints of virtually any DNA or RNA sequence in any organism or pathogen.

Developed by company co-founders and licensed exclusively from the Broad Institute, SHERLOCK is a method for single molecule detection of nucleic acid targets.By programming a CRISPR molecule to detect the presence of a specific genetic signature in a sample or amplified target, SHERLOCK enables single molecule detection with high accuracy. When it finds those signatures, the CRISPR enzyme is activated and releases a robust signal. This signal can be adapted to work on a simple paper strip test, in laboratory equipment, or to provide an electrochemical readout that can be read with a mobile phone.

About Sherlock BiosciencesSherlock Biosciences is dedicated to making molecular diagnostics better, faster and more affordable through Engineering Biology platforms. The company is developing applications of SHERLOCK, a CRISPR-based method to detect and quantify specific genetic sequences, and INSPECTR, a Synthetic Biology-based molecular diagnostics platform that is instrument-free. SHERLOCK and INSPECTR can be used in virtually any setting without complex instrumentation, opening up a wide range of potential applications in areas including precision oncology, infection identification, food safety, at-home tests and disease detection in the field. For more information visitSherlock.bio.

For Cepheid Media Inquiries: Darwa Petersondarwa.peterson@cepheid.com

For Sherlock Biosciences Media Inquiries: dan@1abmedia.com

View original content:http://www.prnewswire.com/news-releases/cepheid-and-sherlock-biosciences-establish-collaboration-on-new-genexpert-tests-for-infectious-diseases-and-oncology-leveraging-crispr-technology-301013198.html

SOURCE Cepheid

Read the original:
Cepheid and Sherlock Biosciences Establish Collaboration on New GeneXpert Tests for Infectious Diseases and Oncology Leveraging CRISPR Technology -...

Anthropologist Rayna Rapp will discuss the growth of genetic testing in reproduction in a public lecture, Wed., March 25, 5:30 p.m. in NYUs Jurow Lecture Hall, Silver Center for Arts and Science, 100 Washington Square East (enter at 32 Waverly Place or 31 Washington Place [wheelchair accessible]).

Banking on DNA: Gendering the Ever-Expanding Horizon of Prenatal Genetic Testing and Reproductive Technology, a Bentson Deans Lecture, is free and open to the public.

How are we to make sense of the increase in testing in reproduction? Rapp will consider the rapidly escalating role of genetic testing in reproduction and will highlight the benefits and burdens of intensified testing in family-making and their gendered implications. The knowledge and pressure to use such tests has resulted in growing social and cultural awareness of disability rights, robust commercial investments in genome-based technologies, and the turn to big data in health research.

Excerpt from:
The Implications of the Growing Role of Genetic TestingLecture by Anthropologist Rayna Rapp, March 25 - NYU News

Newark, NJ, Feb. 25, 2020 (GLOBE NEWSWIRE) -- As per the report published by Fior Markets, theglobal genetic testing services market is expected to grow from USD 34.5 Billion in 2017 to USD 67.1 Billion by 2025 at a CAGR of 8.72% during the forecast period 2018-2025. Rising prevalence of genetic diseases, awareness among population, growing adoption of genetic testing services, and demand of genetic testing in developed countries, growing demand for personalized medicine, growing government initiatives and increased R&D activities in the genetic testing market are the factors that is driving genetic testing services market.

Genetic testing is used in the analysis of the changes in chromosomes, proteins, or genes caused by any suspected genetic condition or disease. It is also used in the diagnosis of cancer and plan the treatment. Several genetic tests are used such as new-born screening, prenatal testing, pre-implantation testing, carrier testing, etc. Numerous methods such as chromosomal method, molecular method and biochemical method are used for genetic testing. It is performed for the identification of risk factors, to screen the new-borns, and also in forensics. According to the report by WHO, sickle cell anaemia is one of the most common genetic disorders among people whose ancestors come from Sub-Saharan Africa, South America, Cuba, Central America, Saudi Arabia, India, and Mediterranean countries. Genetic tests in combination with other genomic technologies predict risk of an individual to a disease and also increase the opportunities for players in pharmaceutical industry to grow. For instance, and provides genetic makeup tests to the consumers. Company also recommends genetic counsellors based on results to help the consumers about the better testing of genes, and the inherited diseases.

Advancements in genetic testing technologies, rising cases of genetic diseases and growing awareness are driving the testing market. In addition, emerging markets hold great potential for growth of due to growing awareness and increase in patients in these regions. High cost and lack of experienced professionals are some of the factors restraining the growth of the market. However, Shift from clinical science to bioinformatics is also leading to high rate of adoption of genetic testing technology, which in turn is augmenting the growth of the market in coming years.

DOWNLOAD FREE SAMPLE REPORT AThttps://www.fiormarkets.com/report-detail/362223/request-sample

Key players operating in the global genetic testing services market include Laboratory Corporation of America Holdings, Genomic Health, Inc., NeoGenomics Laboratories, Inc., Quest Diagnostics, Eurofins Scientific, Ambry Genetics, Hoffmann-La Roche Ltd, Illumina, Inc., CENTOGENE AG, 23andMe, Sequenom, GeneDx, Abbott, Cepheid Inc., ELITech Group, Verinata Health, Inc and others. Top players of the market are making efforts in R&D to increase their footprint in the market.

The predictive & presymptomatic testing is dominating the segment and was valued around USD 12.17 billion in 2017

The test type segment includes prenatal testing, newborn screening, predictive and presymptomatic testing, pharmacogenomic testing. The predictive & presymptomatic testing is dominating the segment and was valued around USD 12.17 billion in 2017. Detection of diseases at early stage minimizes the severity of diseases leading to reduced mortality rate. Increasing prevalence of chronic diseases around the world is expected to augment the segment growth over the forecast period.

The oncology segment dominated the application segment and is expected to register the highest CAGR of 10.07% in the forecast period

The application segment is divided into segments such as oncology, infectious diseases and autoimmune diseases. The oncology segment dominated the application segment and is expected to register the highest CAGR of 10.07% in the forecast period. Timely diagnosis save lives and reduce the number of deaths. According to, The Institute for Health Metrics and Evaluation (IHME), around 8.9 million cancer deaths were recorded in 2016 caused by inheriting genetic mutation. Rising prevalence of various types of cancer such as prostate cancer, breast cancer and lung cancer coupled with increasing awareness pertaining to early detection of cancer are expected to stimulate the growth of the market.

The hospital-based laboratories segment is dominating the genetic testing services market and held the largest market share of 38.21% in 2017

The service provider segment is classified into hospital-based laboratories, diagnostic laboratories and specialty clinics. The hospital-based laboratories segment is dominating the genetic testing services market and held the largest market share of 38.21% in 2017. Advanced infrastructure and increasing number of hospitals in developing economies are driving the growth of the market.

Browse full report with TOC athttps://www.fiormarkets.com/report/global-genetic-testing-services-market-by-test-type-362223.html

Regional Segment Analysis of the Genetic Testing Services Market

The regions analysed for the market include North America, Europe, South America, Asia Pacific, and Middle East and Africa. North America region dominated the global genetic testing services market with the largest share and was valued around USD 15.180 Billion in 2017 where as Asia Pacific region is the fastest growing region in the market. North America region is dominating the market due to developed infrastructure, increase in health care investments and presence of large number of academic and research institutes are key factors leading to the growth of the market. Asia Pacific is anticipated to register highest growth in the forecast period. Increase in the prevalence of infectious disease, increasing awareness about the advantages of predictive testing, and rise in the adoption of advanced technology for clinical applications are some of the major factors offering growth opportunities to the genetic testing services market.

About the report:

The global genetic testing services market is analysed on the basis of value (USD Billion). All the segments have been analyzed on global, regional and country basis. The study includes the analysis of more than 30 countries for each segment. The report offers in-depth analysis of driving factors, opportunities, restraints, and challenges for gaining the key insight of the market. The study includes porters five forces model, attractiveness analysis, raw material analysis, supply, demand analysis, competitor position grid analysis, distribution and marketing channels analysis.

For Instant Purchase:

Customization of the Report:

The report can be customized as per client requirements. For further queries, you can contact us onsales@fiormarkets.comor +1-201-465-4211. Our executives will be pleased to understand your requirements and offer you the best-suited reports.

About Fior Markets

Fior Markets is a futuristic market intelligence company, helping customers flourish their business strategies and make better decisions using actionable intelligence. With transparent information pool, we meet clients objectives, commitments on high standard and targeting possible prospects for SWOT analysis and market research reports. Fior Markets deploys a wide range of regional and global market intelligence research reports including industries like technology, pharmaceutical, consumer goods, food and beverages, chemicals, media, materials and many others. Our Strategic Intelligence capabilities are purposely planned to boost your business extension and elucidate the vigor of diverse industry. We hold distinguished units of highly expert analysts and consultants according to their respective domains. The global market research reports we provide involve both qualitative and quantitative analysis of current market scenario as per the geographical regions segregated and comprehensive performance in different regions with global approach. In addition, our syndicated research reports offer a packaged guide to keep companies abreast of the upcoming major restyle in their domains. Fior Markets facilitates clients with research analysis that are customized to their exact requirements, specifications and challenges, whether it is comprehensive desk research, survey work, composition of multiple methods, in-detailed interviewing or competitive intelligence. Our research experts are experienced in matching the exact personnel and methodology to your business need.

Contact Us

Avinash DHead of Business DevelopmentPhone:+1-201-465-4211Email:sales@fiormarkets.comWeb:www.fiormarkets.com

To know more market research reports and industry analysis, visit our associate website: https://www.magnifierresearch.com

Related Reports

Global Cell Therapy Technologies Market - https://www.fiormarkets.com/report/global-cell-therapy-technologies-market-by-product-consumables-376050.htmlGlobal Dental 3D Printing Market - https://www.fiormarkets.com/report/global-dental-3d-printing-market-by-product-and-376051.htmlGlobal Gene Therapy Market - https://www.fiormarkets.com/report/global-gene-therapy-market-by-type-germline-gene-376052.htmlGlobal Health Intelligent Virtual Assistant Market - https://www.fiormarkets.com/report/global-health-intelligent-virtual-assistant-market-by-products-376053.html

More:
Global Genetic Testing Services Market is Expected to Reach USD 67.1 Billion by 2025 : Fior Markets - GlobeNewswire

The direct-to-consumer (DTC) genetic testing market is expected to witness significant growth in the future on the back of rising awareness among patients to go for early diagnosis and obtain in-time treatment.

This press release was orginally distributed by SBWire

San Francisco, CA -- (SBWIRE) -- 02/26/2020 -- Direct-to-Consumer (DTC) Genetic Testing Market Introduction

Direct-to-consumer (DTC) genetic testing refers to genetic testing that provides people with their genetic information wherein involvement of healthcare professional or Health Insurance Company is not necessary. While a number of companies are offering the direct-to-consumer (DTC) genetic testing, it is spreading awareness regarding genetic diseases that can be prevented in time. Direct-to-consumer (DTC) genetic testing also offers personalized information about overall health, potential disease risks and other genetic traits.

Get Sample Copy of the Report @ https://www.tmrresearch.com/sample/sample?flag=B&rep_id=4770

The direct-to-consumer (DTC) genetic testing market is expected to witness significant growth in the future on the back of rising awareness among patients to go for early diagnosis and obtain in-time treatment. As the prevalence of genetic diseases and rare disorders is increasing across the globe, application of direct-to-consumer (DTC) genetic testing is expected to rise significantly in the coming years.

Direct-to-Consumer (DTC) Genetic Testing Market Notable Developments

In March 2018, 23andMe, Inc. received FDA approval for marketing of the company's genetic test to be used in the screening of BRCA1/BRCA2 breast cancer gene mutations. This is the very first direct-to-consumer (DTC) genetic testing for cancer.In November 2018, Berry Genomics partnered with Prenetics, a Hong Kong-based biotechnology company. The partnership is aimed at offering a range of direct-to-consumer (DTC) genetic testing services in the Chinese market.In January 2019, Nebula Genomics, a start-up genetics company announced that the company will offer free whole genome sequencing for consumers who are willing to contribute their genomic data for the use of drug development studies. This is expected to bring new avenues in the direct-to-consumer (DTC) genetic testing market with leaders in clinical laboratories as well as anatomic pathologists are planning to offer the same service to advance the field of pharma drug development and treatment.Some of the most prominent competitors operating in the competitive landscape of global direct-to-consumer (DTC) genetic testing market include

AncestryEasyDNA23andMeFull GenomesFamily Tree DNALiving DNAGenesis HealthCareHelixColorIdentigeneMyHeritageKarmagenesMapMyGenomePathway Genomics

Request TOC of the Report @ https://www.tmrresearch.com/sample/sample?flag=T&rep_id=4770

Direct-to-Consumer (DTC) Genetic Testing Market Dynamics

Opportunities for Manufacturers as FDA Relieves Regulatory Hurdles

In June 2018, the U.S. FDA relieved some of the regulatory hurdles for manufacturers of the direct-to-consumer (DTC) genetic testing for health risk. As per the new regulatory updates, manufacturers, after receiving the first premarket approval for genetic health risk (GHR) test can commercialize the test without the requirement of additional review. GHR tests provide consumers with genetic risk information to consumers, however, it does not determine whether the person is at risk of developing a disease or a condition. While the regulatory process remains equally stringent, the FDA has warned against the use of multiple genetic tests with unapproved claims to predict patient response to a specific set of medications.

Prenatal and Newborn Direct-to-Consumer (DTC) Genetic Testing Demand On the Rise, Reliability Remains a Grey Area

Over the period of the last decade, individuals could easily purchase direct-to-consumer (DTC) genetic testing over online transactions to carry out prenatal and newborn genetic testing without the intervention of health professionals. However, companies that offer such tests lack a comprehensive standard data to which the testing results are compared. While the number of companies offering the direct-to-consumer (DTC) genetic testing for newborn screening is increasing, the reliability of their tests remains a grey area owing to the lack of supervision about test content, interpretation and accuracy.

Integration of Artificial Intelligence to Add Value in DTC Genetic Testing

Direct-to-consumer (DTC) genetic testing holds significant importance in the field of personalized medicine. Health data of an individual derived from direct-to-consumer (DTC) genetic testing in the form of genetic sequencing can be linked with other health indications to gain an overall health outlook. Towards this, many direct-to-consumer (DTC) genetic testing companies are engaged in collaborating with pharma companies. Also, with the integration of artificial intelligence (AI) in the medical diagnostic technologies such as direct-to-consumer (DTC) genetic testing, the derived genetic sequencing data becomes more valuable.

Direct-to-Consumer (DTC) Genetic Testing Market Segmentation

Direct-to-consumer (DTC) genetic testing market is segmented on the basis of type, application and technology.

Based on type, the Direct-to-consumer (DTC) genetic testing market is segmented into,

Diagnostic ScreeningPrenatal, newborn screening, pre-implantation diagnosisCarrier TestingNutrigenomics TestingRelationship Testing

Based on application, the Direct-to-consumer (DTC) genetic testing market is segmented into,

Direct salesLaboratory salesRetail sales

Based on technology, the Direct-to-consumer (DTC) genetic testing market is segmented into,

Single Nucleotide Polymorphism (SNP) ChipsTargeted AnalysisWhole Genome Sequencing (WGS)

Read Comprehensive Overview of Report @ https://www.tmrresearch.com/direct-to-consumer-genetic-testing-market

About TMR ResearchTMR Research is a premier provider of customized market research and consulting services to business entities keen on succeeding in today's supercharged economic climate. Armed with an experienced, dedicated, and dynamic team of analysts, we are redefining the way our clients' conduct business by providing them with authoritative and trusted research studies in tune with the latest methodologies and market trends.

Read More Articles: https://tmrresearchblog.com/

For more information on this press release visit: http://www.sbwire.com/press-releases/direct-to-consumer-genet/release-1279420.htm

See the original post here:
Direct-to-Consumer (DTC) Genetic Testing Market Latest Trends and Future Growth Study by 2028 : Ancestry, EasyDNA, 23andMe - Press Release - Digital...

By Express News Service

THIRUVANANTHAPURAM:Expanding its scope in diagnosis domain, the Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), has established a Molecular Genetics and Neuroimmunology Unit (MGNU) for genetic testing of selected cardiac and neurological inherited diseases. SCTIMST president V K Saraswath inaugurated the facility on Wednesday.

According to a senior SCTIMST official, the new facility would help test multi-gene panels for diseases such as neuromuscular diseases, movement disorders like Parkinsons disease, neuro-developmental disorders, epilepsy syndromes, inherited metabolic diseases, and for identification of bacteria from body fluids.As per institute release the diagnostic facility will open new avenues for extensive research in genomics and collaborative research work within and outside the country. The facility will also examine gene mutation that cause specific diseases.

The release said that MGNU will also help overcome the cost and speed limitations associated with sequencing benefitting clinicians and patients alike. The long-term plan of MGNU is to establish a robust bioinformatics platform to provide support for disease diagnosis and management, molecular characterization of diseases for personalized treatment, population screening for disease risk, pharmacogenomics (study of how genes affect a persons response to drugs), identification of novel genetic biomarkers and genetic counselling. SCTIMST, an institute that comes under the Department of Science and Technology, is o an advanced referral centre for neurological and cardiovascular diseases. The patients are referred to the centre not only from Kerala but also from neighbouring states for the management of genetic diseases.

Long-term planThe long-term plan of MGNU is to establish a robust bioinformatics platform to provide support for disease diagnosis and management.

Read more:
Sree Chitra to examine gene mutation and carry out gene testing - The New Indian Express

Dr. Gaylis is chief scientific officer of Genesis Healthcare Partners and voluntary professor of urology, University of California, San Diego. Dr. Kader is professor of urology at Moores Cancer Center, University of California, San Diego.Disclosures: Dr. Gaylis is a scientific board advisor at, and Dr. Kader is the founder of, Stratify Genomics.

Urology Times presents opinions, advice, and news from urologists and other urology professionals. Opinions expressed here are the authors' own, and do not necessarily reflect the views of Urology Times or its parent company, MJH Life Sciences.

Prostate cancer (PCa) is the most common solid organ malignancy affecting American men and the second leading cause of death from cancer. Since the introduction of the PSA blood test in the early 1990s, there has been a progressive decrease in the stage and grade of PCa at diagnosis as well as a dramatic decline in PCa death rates. However, due to the variable natural history of PCa and the PSA tests poor specificity, universal PSA-based screening has also led to increased cost and suffering in many men who will never be affected by PCa.

This controversy has led to confusion and varying recommendations, ultimately resulting in a decrease in PSA-based screening. Coinciding with this decrease in screening, a recent report from the American Cancer Society indicates, for the first time in 30 years, a halt in the decline in presentation of metastatic disease and PCa mortality.1

Citing two controversial papers in 2012 suggesting that there is minimal survival benefit to PSA-based screening average risk men, the U.S. Preventive Services Task Force (USPSTF) considered that PSA-based screening harms many (side effects include anxiety from screening, infection and bleeding from prostate biopsy, and urinary incontinence and sexual dysfunction from treatment) and benefits few (men saved through early detection). The USPSTF recommended that no man should be screened for PCa.

This stance was adopted by the American Academy of Family Physicians, among others, and what followed was an indiscriminate cessation of screening in most men, and with that, the dramatic decline in new PCa diagnoses by almost 60,000 cases.

Subsequent to the Task Forces recommendation in 2012, several research groups including ours published disturbing trends of more men presenting with more aggressive and advanced PCa.2,3 We now see for the first time a changing course in the death rate from the disease. We are entering a dangerous era. Should we go back to the days before PSA-based screening, the increase in death and suffering will not be felt for another decadeat which point it might be too late for a generation of men.

Due to a backlash stemming from these reports and an acknowledgement of the flaws in the original screening studies, the USPSTF in 2018 amended its recommendation slightly to suggest that a conversation be held between physician and patient (between the ages of 55 and 69 years) about the risks and benefits of PSA-based screening with no allowance for risk factors (family history or race).

Rather than forgoing screening in everyone, we suggest a risk-stratified approach whereby our screening efforts are focused on those men who stand to gain the most and be harmed the least. Men expected to live beyond 10 years who have a family history of PCa, are of African-American race, and/or have a genetic predisposition to the disease should be offered screening at an earlier age (mid-40s) and more aggressive screening (yearly). Average- and low- risk men (based on genetic testing) should be counseled regarding the risks and benefits of screening (called shared decision-making) and allowed to make an informed decision regarding screening at longer intervals (possibly every 3-7 years).

Furthermore, to avoid overtreatment of indolent PCa, men diagnosed with low-risk disease should consider active surveillance (close monitoring with intent to treat and cure if the disease worsens).

Genetic predisposition to PCa is based on newly discovered germline genetic (inherited DNA) abnormalities, which have been associated with the development of PCa and sometimes aggressive disease. The latter may develop as a result of mutations of the breast cancer DNA damage repair genes (BRCA1 and BRCA2). In addition, abnormalities in other components of the DNA called single nucleotide polymorphisms (SNPs) are associated with the development of PCa.

Tests for specific SNPs have recently become commercially available to predict a mans lifetime risk of developing PCa. A San Diego startup, Stratify Genomics, recently launched Prompt - prostate genetic score (PGS), one of the first germline SNP tests based on a cheek swab. Studies of Prompt-PGS have shown promising results, with data showing it being two times more predictive than PSA and three times more predictive than a positive family history in determining the risk of a man developing PCa.4,5 Additional new tests either currently available or in testing include urinary exosomes (which contain DNA), liquid biopsies (blood and urine tests designed to detect the presence of PCa), and other biomarkers looking at cancer-associated cell changes in urine.

The recently reported change in PCa death rates should prompt men to undergo genetic testing and have a discussion with their doctor regarding the benefits and potential harms of PSA-based screening based on their individualized risk of developing the disease. Together with race and family history, this new genetic information can help men and their physicians make an informed decision regarding screening and hopefully reverse this disturbing trend in PCa death rates.

References

Original post:
An end to the decline in prostate cancer mortality - Urology Times

Epigenetic clocks are a new type of biological test currently capturing the attention of the scientific community, private companies and governmental agencies because of their potential to reveal an individuals true age.

Over the past two years, companies such as Chronomics and MyDNage have started to sell epigenetic age tests to the public online, and the life insurance company YouSurance has announced that it would be testing the epigenetic age of their policy holders to assign them to risk groups. Forensic scientists are also contemplating how epigenetic clocks could help determine the age of suspected criminals.

Recently, the Kobor Lab developed the first pediatric epigenetic clock designed specifically for testing the age of young people, with an eye towards its applications in research and medical settings. This test uses a small sample of cells collected cheaply and easily from a cheek swab, and can predict a childs age with a degree of precision within approximately four months.

But pediatric epigenetic clocks are likely to have non-medical applications as well. They could soon be used in immigration cases to prove the age of undocumented migrants seeking asylum as minors. Other future uses can be imagined, such as for child labour and trafficking surveillance, or even for the identification of child combatants in armed conflicts.

As researchers in bioethics, sociology and medical genetics, we are interested in the potential benefits and risks of this fascinating yet controversial new technology for individuals and society.

Epigenetic clocks emerge from the field of epigenetics, which examines how chemical marks can regulate gene expression and help us understand how aging and disease processes work. Epigenetics is the study of small molecules that bind to DNA or to the proteins DNA wraps around, changing how genes are read. These small molecules dont change the linear sequence of the DNA, but they can turn genes on or off by opening or closing the 3D structure of DNA.

If we think of genes as light bulbs, epigenetic marks can nudge the dimmer switch up or down, but they cant change the colour of the light. Some epigenetic marks can change in response to a persons environment or lifestyle. Epigenetic tests may provide information about individuals that a genetic test alone cant reveal such as exposures to trauma, stress, diet or pollutants.

Other epigenetic marks change in a very constant fashion as a person develops, grows and ages. These marks have enabled the development of different epigenetic age tests. Also known as epigenetic clocks, these tests are poised to be the first epigenetic tests ready for use.

However, most epigenetic tests have not yet been scientifically validated to confirm their precision and accuracy in different sub-groups of the population, and the ethical, legal and social implications of their use are not well understood.

Like genetic tests, epigenetic tests may eventually be used in law enforcement and immigration settings, as well as in research and medical contexts. The lessons learned from DNA testing highlight the need for caution and responsible implementation.

Genetic research and testing now have many uses beyond detecting disease risks and tracing ancestry. DNA tests are common tools in police investigations to identify suspects and victims of crimes, and they are increasingly used by immigration agencies to prove genetic relationships in family reunification efforts.

In 2018, the identification of the suspected Golden State Killer made it clear that biological information shared with companies such as 23andMe and Ancestry.com through direct-to-consumer tests could be mined by law enforcement agencies. This case raised public and legal concerns about the privacy of genetic information, and the uses of DNA stored by private companies and in government databases.

Due to the capacity of epigenetic tests to expose sensitive information about an individuals developing environment, social conditions and life choices, the implementation of tests like the pediatric clock requires close attention to issues related to privacy, surveillance and basic human rights.

In an era of rising xenophobic and protectionist immigration policies across the globe, the benefits of gaining biological data should be critically considered against the risks to basic human rights inherent in the process of collecting another layer of information from a vulnerable population.

When genetic testing was proposed as a solution for family reunification for the thousands of children separated from their parents by US Immigration and Customs Enforcement raids and deportations, ethicists and advocacy groups raised significant issues, including the lack of informed consent and concerns about the long-term storage of DNA in either private databases or those previously used only for those accused of crimes.

The use of genetic tests to prove the biological relationship between family members seeking to reunite in a country has also been criticised for being ethically problematic for children in non-genetic families, and having potentially devastating consequences for members of genetic families if DNA test errors occur. These situations could impede the reunification of children with their primary caregivers.

Problems may also arise if epigenetic clocks are used in immigration cases before we fully understand and address their ethical, legal and social consequences. For example, migrants who are minors may have been exposed to highly stressful experiences, malnutrition or medical conditions. Such exposures can affect the results of epigenetic clock tests which were developed based on the DNA of healthy children in developed countries. This makes their use in efforts to identify biological age problematic for both technical and ethical reasons.

To date, there have been attempts but no official report of any police force or immigration agency successfully using an epigenetic clock test in solving a challenging criminal case or asylum claim. However, it has come to our attention that researchers have been approached by governmental agencies interested in using the pediatric epigenetic clock in particular, and by migrants searching for ways to prove the age of their undocumented children in order to be granted access to legal privileges reserved only for minors.

The promises of epigenetics that circulate widely in public discourse include the potential to control ones genetic predisposition such as disease risk through lifestyle choices. With this type of attention, individuals in the general public may in fact be among the first interested in using these tests. Consumers gaining access to epigenetic tests online, and those seeking to use them to inform legal and policy decisions, should be aware of their current scientific limitations, as well as of rising privacy and non-discrimination concerns.

Standards of practice, ethical guidelines and regulations are critically needed to ensure the responsible use of epigenetic tests. Most urgently, there is a need to protect children and their caregivers from premature or socially inadmissible uses of pediatric epigenetic clock tests to ensure their promises are realised with their best interest in mind.

Charles Dupras, Postdoctoral Fellow, Center of Genomics and Policy, McGill University. Martine Lapp, Assistant Professor of Sociology and Science, Technology, and Society, California Polytechnic State University. Michael S Kobor, Canada Research Chair in Social Epigenetics and Professor, UBC Department of Medical Genetics, University of British Columbia.

This article first appeared on The Conversation.

See more here:
Why we should be wary of epigenetics, the science that reveals our true age - Scroll.in