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Archive for the ‘Genetic Testing’ Category

What Causes Autism? Researchers ID 102 Genes Linked to Condition – Healthline

In the largest genetics study of its kind to date, scientists have identified 102 genes associated with the risk for autism spectrum disorder (ASD).

Researchers also gained further insight into which of these genes are associated with both ASD and other disorders that cause intellectual disability and developmental delay.

For the study, an international team of researchers analyzed more than 35,000 participant samples, including almost 12,000 from people with ASD.

Researchers used a genetic technique called exome sequencing, which looks at all the regions of a persons genetic information or genome that are translated into proteins. This testing can pick up rare genetic mutations that might not show up with other methods.

Dr. Lonnie Zwaigenbaum, a professor in the Department of Pediatrics and the Stollery Childrens Hospital Foundation Chair in Autism at the University of Alberta, called this an exciting study, both for the sophisticated methods used and the large sample size.

These enabled researchers to identify a larger number of genes than ever before, which gives insight into how those genes operate and how they might increase the risk of ASD, said Zwaigenbaum, who wasnt involved in the research.

The study results were published January 23 in the journal Cell.

ASD is a group of neurological and developmental conditions that affect communication and behavior. Theres wide variation in the type and severity of symptoms in people with ASD.

Scientists believe that both genes and environment are involved in the development of ASD, with genetics playing a big part.

We know that inherited and unique mutations in the genome are a major source of risk for developing ASD, but specific causes of ASD are not yet well understood, said Lori J. Warner, PhD, director of the Center for Human Development and Ted Lindsay Foundation HOPE Center at Beaumont Childrens Hospital in Royal Oak, Michigan, who wasnt involved in the study.

Although environmental factors play some role in ASD, scientific studies have found that theres no link between receiving vaccines and developing ASD.

The new study marks an important step forward in scientists understanding of the genetic basis of ASD.

Researchers identified both inherited genetic mutations and de novo mutations ones that occur spontaneously when an egg or sperm form.

They also found that the ASD genes identified in the study can affect brain development or brain function. And they showed that two major types of nerve cells can be affected in ASD.

Of the 102 genes identified in the study, 49 were associated with other developmental delays.

Some genes appear connected to the development of ASD, whereas others may increase risk for ASD plus severe neurodevelopmental disorder, said Warner. We dont yet understand fully this process, but differentiating ASD from other disorders is important for effective treatment.

Zwaigenbaum said the overlap between ASD and other neurodevelopmental disorders fits with previous research.

This study reinforces that there are many genes that may have some role in autism vulnerability, but that also have a broader role in early brain development, said Zwaigenbaum.

These genes have a broader expression in terms of developmental abilities and challenges of the affected individual.

While scientists now understand ASD better as a result of this study, this kind of research also points toward better ways to help children with ASD.

The greatest benefit of studies of this type is helping researchers, families, and interventionists better understand how genetic factors actually function in the developing brain and body of the individual, said Warner, so that treatments can be developed to ameliorate or completely block the disruptive changes that lead to disorders such as ASD.

But Zwaigenbaum cautions that the results of the study will not lead to clinical benefits right away.

Theres a lot of translational work that would still need to happen in order to assess whether the findings from this study will directly inform assessment, diagnosis, or treatment, he said.

Still, he said the results provide direction for future research into potential biological treatments, as well as genetic tests that could allow earlier diagnosis of ASD.

Warner said there are medications currently approved for use in children with ASD, but they address symptoms like agitation or anxiety, rather than the core social or behavioral deficits of ASD.

Early diagnosis is another goal of ASD research, because the sooner children are identified and appropriately assessed, the sooner families can receive needed supports, said Warner.

But ASD is a complex condition, so genetic diagnosis isnt always straightforward.

Although studies like this continue to expand our appreciation for the increasing number of genes associated with ASD, the reality is that a genetic cause is seldom identified in most children with ASD even with the most sophisticated genetic testing, said Andrew Adesman, MD, chief of Developmental & Behavioral Pediatrics at Cohen Childrens Medical Center in Queens, New York, who wasnt involved in the study.

But he said theres still value in parents of a child with ASD seeking out genetic testing, especially as genetic technologies advance.

There have been steady gains in terms of the diagnostic yield of genetic testing, said Adesman. For this reason, parents of children with ASD may wish to discuss with their pediatrician whether their child should have the newer genetic tests done.

In the absence of a simple test for ASD, there are still things parents can do for their children.

The single most important things families and healthcare providers can do is to be aware of the risk factors and early signs and symptoms of autism, and get connected with needed services as soon as possible, said Warner.

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What Causes Autism? Researchers ID 102 Genes Linked to Condition - Healthline

Genetic Non-Discrimination Bill Advances in Florida – The National Law Review

Thursday, January 23, 2020

Florida could be the first state to deny life and long-term care insurers access to genetic test results. Under a new bill titled Genetic Information for Insurance Purposes (HB 1189), life insurers and long-term care insurers are prohibited from canceling, limiting, or denying coverage, or establishing differentials in premium rates based on genetic information. In addition, HB 1189 would prevent life insurers and long-term care insurers from requiring or soliciting genetic information, using genetic test results, or considering a person's decisions or actions relating to genetic testing in any manner for any insurance purposes.

On Jan. 16, the Florida House Health & Human Services Committee passed HB 1189 without any debate. The bill is now being reviewed by the Commerce Committee, which will have to clear the bill before it would be ready to go to the full House.

HB 1189 is sponsored by Representative Chris Sprowls, the incoming Speaker-designate. It is the only bill he has filed this year. In the Senate, the bill is sponsored by Kelli Stargel, who is part of Senate leadership. Given HB 1189s sponsors, the issue will likely be a high profile one, and will have a good chance of passing in the next year or two.

Existing federal law, the Genetic Information Nondiscrimination Act (GINA), protects Americans from discrimination in health insurance, employment decisions, and employee benefit decisions on the basis of genetic information. Under GINA, U.S. insurance companies and health plans (including both group and individual insurers, as well as federally regulated plans) are prohibited from:

looking at predictive genetic information or genetic services before enrollment;

requesting or requiring that individuals or their family members take a genetic test;

restricting enrollment based on genetic information;

changing premiums based on genetic information.

GINA, however, does not cover life, long-term care, or disability insurance providers. As a result, those companies can ask about health, family history of disease, or genetic information, and reject those that are deemed too risky.

2020 Greenberg Traurig, LLP. All rights reserved.

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Genetic Non-Discrimination Bill Advances in Florida - The National Law Review

Digital freedom and DNA: Caution advised on the road ahead – Military Times

As the threats of cyberattacks now loom large in the aftermath of recent U.S. tensions in the Middle East, caution is needed with recreational use of genetic testing.

Just a month ago, on Dec. 20, a memorandum advising U.S. military personnel to refrain from the purchase or use of direct-to-consumer (DTC) genetic testing services was sent to a wide Defense Department distribution list. This memo came from the U.S. Under Secretary of Defense for Intelligence Joseph D. Kernan and Assistant Secretary of Defense for Manpower and Reserve Affairs James N. Stewart. This was a wise move, as Kernan and Stewart reminded their audience that this largely unregulated DTC genetic testing industry poses potential risks to individual privacy and to national security that could affect military operational readiness.

Privacy considerations and readiness issues are raised by DTC genetic testing of military service members, and major security concerns are at hand.

We already know that foreign governments are exploiting various surveillance methods, including DNA-typing, for monitoring individuals without their consent. There are well-known national security concerns that biological weapons can target specific groups or individuals who are genetically vulnerable to the effects of weaponized pathogens or other diseases. Besides these concerns, large-scale DNA typing affords use of genetic data for individualized identification, permits identification of unexpected parentage and family relationships, and exploits the ability to estimate bio-geographic ancestry.

While some of these genetic data generated are useful for various recreational purposes and for certain forensic investigations, unauthorized hacking of the data on military members could compromise national security for covert operators and for unit cohesion and mission readiness.

Two facts about genetic testing in military health settings are not well-appreciated.

First, protections of the Genetic Information Nondiscrimination Act (aka GINA), signed into law by President George W. Bush, do not apply to the military. While there are some policies in place to deal with genetic health information for service members, some genetic testing results, for example the finding of sickle cell trait, can place restrictions on some members with aviation specialties.

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Second, U.S. DoD policies (i.e., DodI 6025.19) require service members to report (any) medical and health issues that may affect their individual readiness to deploy to serve on active status and to report any significant health information up the chain-of-command.

These realities present conundrums for those serving on active status in the military. This is due to the large amount of genetic data that are assessed by the DNA companies, often then shared electronically with other companies from the saliva or cheek swab samples they collect.

Depending on the testing kit and service requested by the consumer, genetic disease carrier state and health risk information is often communicated, but not necessarily confirmed or validated by another method, nor are new tests necessarily even reviewed by the FDA before being offered. Such testing results, if affecting a large fraction of those serving in a military unit be it a squad, platoon or company could easily interfere with critical missions if the purported results require verification by followup testing or clinical evaluation of the service member.

These matters concern all of us. Our passion for freedom requires us to walk the long and winding road to digital freedom. We must more carefully examine the commercial interests of DTC companies and the security of the genetic data they control as we balance interests in privacy of our service members and our national security, too often threatened and those of privacy rights, too often denied.

Frederick R. Bieber, Ph.D., is a forensic DNA-expert and member of the faculty of medicine at Harvard University. He served as a U.S. Army Reserve officer at the U.S. DoD DNA-Identification Laboratory (AFDIL) in Rockville, Maryland, the Dover AFB Mortuary, and at the U.S. Army Criminal Investigation Laboratory (USACIL) at Fort Gillem, Georgia.

Editors note: This is an Op-Ed and as such, the opinions expressed are those of the author. If you would like to respond, or have an editorial of your own you would like to submit, please contact Military Times managing editor Howard Altman,

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Digital freedom and DNA: Caution advised on the road ahead - Military Times

What 23andMe, kits arent telling you about your health risks – austin360

Lets say, for the holidays, you got a kit from, 23andMe or a similar company to send in your DNA (aka your spit) and discover your roots as well as your personalized health report.

You spit, you send it off, and youre starting to get the results back.

And in that personalized health report, theres an indication for an increased cancer risk, or theres no indication of an increased cancer risk ... now what? Can these reports be believed? Should you go running to find the nearest doctor to prevent your impending death?

Gayle Patel, a certified genetic counselor and the director of the Genetic Risk Evaluation and Testing Program at Texas Oncology, wants people to know these tests arent looking at the whole genome. Theres a limit to what it can do, she says, but they might come up with some interesting health traits, as well as your long-lost ancestors.

Some of the mysteries they can solve, such as whether there is a genetic reason you prefer chocolate or vanilla ice cream, can be fun, she says. But its not telling the whole story.

If results from one of these tests show an increased risk for something, she recommends bringing that information to your doctor at your next appointment. Its not that you have a disease but that you may have an increased risk, she says.

Your doctor will want to assess what the risk is, how accurate it is and what preventative steps you might want to take, she says.

These boxed ancestry/DNA tests dont have the experts who can personalize the test for you based on your medical and family histories. They also dont have a person explain it to you and make a plan for you.

It can be difficult and scary, she says, to get these results. None of this is destiny or fate. Its talking to you about personalizing your medical care.

Her bigger concern is not that these tests are going to find a risk; its that they wont find a risk and you will think you are fine and not do the usual preventative treatments or recommended screenings.

For example, about a year ago, 23andMe added some of the BRCA mutations to what it looks for. BRCA mutations indicate a risk for breast cancer and ovarian cancer. Patel says this test now is looking at only three of the mutations when there are thousands. Weve had patients who think they have tested negative for that type of cancer when its not true.

Instead, based on personal medical history and family history, shell recommend doing a medical-grade test in an office that specializes in genetic testing to get a comprehensive look at all types of cancer risks.

Were either going to confirm or make sure were not missing something else that can be just as important, Patel says.

Medical testing has gone down in price, and this kind of genetic testing now can be done for about $250, she says, which is about the price of the 23andMe or kit that includes health DNA. Often, based on medical history, insurance will cover the medical tests.

Patel also wants folks to realize that only about 5% to 10% of all cancers have a known genetic component. Of course, it depends on the type of cancer. Ovarian cancer has about a 23% genetic link, she says, but lung and cervical cancer tend to be more environmental and less likely to be genetic.

New gene mutations are being discovered all the time as more and more data is collected, and what genetics counselors can test for changes all the time, too.

Patel also recommends reading the fine print of where your DNA data is being stored by these companies. Who owns the data, and how is the data being shared? It might be going to a database accessed by pharmaceutical companies for research on new cancer treatments, or it might be on an open database accessible to anyone. As long as they are informed and educated, she says, then these tests are OK. Learn before they spit.

As well, be prepared for the results you might get, such as a long-lost brother or that your father isnt your biological father. It could be one of these surprises that could change how you think about your family, she says.

What 23andMe, kits arent telling you about your health risks - austin360

Researchers identify more than 100 genes associated with autism – The Hill

Researchers have identifiedmore than 100 genes associated with autism in the largest genetic-sequencing study to date that could help shed light on the causes of the condition.

In a study published Thursday in the peer-reviewed journal Cell, a team of researchers identified 102 genes associated with the risk of autism spectrum disorder (ASD), using samples from more than 35,000 participants, 12,000 of which had autism. They were able to study genes that were inheritedas well as those that occurred spontaneously when the egg or sperm is formed.

The study shows progress toward teasing apart genes associated with ASD from those associated with intellectual disability and developmental delay, conditions that often overlap.

Of the 102 genes associated with ASD risk, 49 were also associated with other developmental delays.

With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches, Joseph Buxbaum, the director of the Seaver Autism Center for Research and Treatment at Mount Sinai, said in a statement.

ASDis a developmental disorder that affects communication and behavior, and although autism can be diagnosed at any age, it is said to be a developmental disorder because symptoms generally appear in the first two years of life.

The Centers for Disease Control and Preventionestimates that about 1 in 59 children has been identified with ASD.

Researchers said the results were encouraging as genetic testing could increase the likelihood of figuring out the cause of some childrens autism.

Through our genetic analyses, we discovered that its not just one major class of cells implicated in autism, but rather that many disruptions in brain development and in neuronal function can lead to autism, Buxbaum said. We now have specific, powerful tools that help us understand those underpinnings, and new drugs will be developed based on our newfound understanding of the molecular bases of autism.

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Researchers identify more than 100 genes associated with autism - The Hill

Breast Cancer Predictive Genetic Testing Market Product and Application Segmentation till 2020 Dagoretti News – Dagoretti News

Chicago, United States, Jan 22, 2020 Report Hive Research adds Breast Cancer Predictive Genetic Testing market report to its market research database. This report is a detailed study of core market elements which represents concise analysis of the growth factors impacting the business scenario in the next five years to come. Breast Cancer Predictive Genetic Testing Market covers major assorted regions across the globe along with providing in depth regional analysis for every region ranging from North America, Europe, South America, MEA and Asia-Pacific depending on the report specifications mentioned in the table of content.

Breast Cancer Predictive Genetic Testing market report provides substantial information on the industry size, share, trends and applications; further offering vital statistics to market players and investors. Such information poses a high level of accuracy as the data is sourced from reliable entities and figures denoted are summed after extensive market analysis. The data obtained from the report eases of predicting upcoming market opportunities.

In this report, our team research the global Breast Cancer Predictive Genetic Testing market by type, application, region and manufacturer 2014-2020 and forcast 2021-2026. For the region, type and application, the sales, revenue and their market share, growth rate are key research objects; we can research the manufacturers sales, price, revenue, cost and gross profit and their changes. Whats more, we will display the main consumers, raw material manufacturers, distributors, etc.

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Furthermore, the brief competitive analysis included in the study illustrates the current status of major market players along with their expansion strategies and portfolio developments. Breast Cancer Predictive Genetic Testing market is bound to witness significant gains and is predicted to register a substantial CAGR in the years to come. The statistical graphs and figures included in this report displays global market share in term of sales and revenue.

Encompassing a comprehensive overview on market size, share and growth opportunities, Breast Cancer Predictive Genetic Testing market report allows to garner detailed insights on segmental growth which is propelled by specific applications in the key regions and countries as per denoted in the table of content. For this, the report considers market volumes and numbers generated from the segmental analysis.

Such segmentation uncovers various hidden trends and market statistics that may highly influence the decisions of various participants, including investors and new market entrants. The report also presents detailed analysis of the major vendors and manufacturers in the market further proving helpful to the start-ups looking to set up their business portfolios in the Breast Cancer Predictive Genetic Testing market.

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Finally, the report decisively elaborates on key drivers which are set to augment Breast Cancer Predictive Genetic Testing market growth during the forecast timeframe. Along with this, it briefs on both the opportunities and challenges that likely to impact the business growth and the market as a whole. Pointing toward key emerging trends and their impacts on present and future prospects this comprehensive study helps sustaining the extremely competitive landscape by enabling to plan accordingly as per the market conditions.

Leading players of Breast Cancer Predictive Genetic Testing including:

RocheThermo Fisher ScientificPerkinElmerQuest DiagnosticsMyriad GeneticsIverson GeneticsCancer GeneticsOncoCyte CorporationNeoGenomicsInvitae

Market split by Type, can be divided into:

High Penetrant GenesIntermediate Penetrant GenesLow Penetrant Genes

Market split by Application, can be divided into:


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Breast Cancer Predictive Genetic Testing Market Product and Application Segmentation till 2020 Dagoretti News - Dagoretti News

My genes are stacked against me; it’s made me a fighter –

Growing up, cancer for me was something that old people got. I lost my maternal grandmother before I even got a chance to meet her, my paternal grandfather by the time I was six and my paternal grandmother at 13.

It wasn't until my mother was diagnosed with brain cancer at the age of 48 that it became real: this disease doesn't just hit elderly people.

My mother's cancer was a rare one: hemangiopericytoma, a type that can be dormant for long periods of time. She went through brain surgery, radiation andlost the vision in her left eye. She ultimately kicked that cancer in the butt.

But it wasn't long after that my mother's cousins were diagnosed with cancers of their own all three before turning 55. All of their mothers had died from cancers similar to the ones they were now diagnosed with.

The similarities were too much for one of my cousins who worked in the healthcare field. With the help of her doctor, they figured out that Lynch Syndrome runs in my family.

Join CBC Saskatchewan's Sam Maciag for the January edition of The Novel Idea Society book club. This month, we'll be readingDaughter of Family G: A Memoir of Cancer Genes, Love and Fateby Ami McKay, which deals with the topic of Lynch Syndrome.

Lynch Syndrome gives the carrier a genetic predisposition to a laundry list of different cancers, meaning there's a mutation in their genes that makes them more likely to become ill. And it's hereditary.

Lynch Syndrome can be identified through the same genetic testing process as the breast cancer BRCA gene test, which has surged in popularity since Angelina Jolie came out about her genetic history.

It wasn'thelpful that my entire family is in Ontario, where the high population causes more roadblocks to testing.

Here in Saskatchewan, it starts with your family doctor, then testing in Saskatoon. When you start genetic testing, you have a counselling session to prepare you for the information you could find out. I feel like my attitude of "it's not 'if,' it's 'when'" prepared me for this meeting. Since my mom was diagnosed the first time I truly believed that it was an "I will get cancer in my lifetime" situation.

I also had made the decision early in my life that children were not for me, so having a hysterectomy or mastectomy wasn't a major concern. These are preventative surgeries that you can have if you are positive about your genetic makeup, to help you with your chances of avoiding the cancers that affect these organs.

I've taken a different approach, though.

At the same time my cousins and motherwere going through their genetic testing, I stumbled into an online test group with a health and fitness professional, which led me to understand more about how diet could play a role in my health and my fight against cancer.

My mother was diagnosed with HER2+ breast cancer during this time of discovery. This was a hard one. The accessibility to information that the Internet provided wasn't always a benefit to her mentally during this fight. It provided her with a black hole of information, very little of which waspositive.

I was also an adult this time around, which gave me more insight into what was going on. Seeing her struggle through the fight the second time really pushed me to start researching ways to make my body somewhere cancer doesn't want to grow.

Knowing what is in my family history has given me two options: either cause me to live in fear or push me to educate myself on what I can do to give me the best chance to live a long life. I personally have chosen option two and used it as a way to help others succeed in their lives.

This column is part of CBC'sOpinionsection. For more information about this section, please read thiseditor's blogand ourFAQ.

Interested in writing for us? We accept pitches for opinion and point-of-view pieces from Saskatchewan residents who want to share their thoughts on the news of the day, issues affecting their community or who have a compelling personal story to share. No need to be a professional writer!

Read more about what we're looking for here, then emailsask-opinion-grp@cbc.cawith your idea.

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My genes are stacked against me; it's made me a fighter -

6 expert essays on the future of biotech – World Economic Forum

What exactly is biotechnology, and how could it change our approach to human health?

As the age of big data transforms the potential of this emerging field, members of the World Economic Forum's Global Future Council on Biotechnology tell you everything you need to know.

Elizabeth Baca, Specialist Leader, Deloitte Consulting, and former Deputy Director, California Governors Office of Planning and Research & Elizabeth ODay, Founder, Olaris, Inc

What if your doctor could predict your heart attack before you had it and prevent it? Or what if we could cure a childs cancer by exploiting the bacteria in their gut?

These types of biotechnology solutions aimed at improving human health are already being explored. As more and more data (so called big data") is available across disparate domains such as electronic health records, genomics, metabolomics, and even life-style information, further insights and opportunities for biotechnology will become apparent. However, to achieve the maximal potential both technical and ethical issues will need to be addressed.

As we look to the future, lets first revisit previous examples of where combining data with scientific understanding has led to new health solutions.

Biotechnology is a rapidly changing field that continues to transform both in scope and impact. Karl Ereky first coined the term biotechnology in 1919. However, biotechnologys roots trace back to as early as the 1600s when a Prussian physician, Georg Ernst Stahl, pioneered a new fermentation technology referred to as zymotechnology.

Over the next few centuries, biotechnology was primarily focused on improving fermentation processes to make alcohol and later food production. With the discovery of penicillin, new applications emerged for human health. In 1981, the Organization for Economic Cooperation and Development (OECD) defined biotechnology as, the application of scientific and engineering principles to the processing of materials by biological agents to provide the goods and services.

Today, the Biotechnology Innovation Organization (BIO) defines biotechnology as technology based on biology - biotechnology harnesses cellular and biomolecular processes to develop technologies and products that help improve our lives and the health of our planet.

In the Fourth Industrial Revolution, biotechnology is poised for its next transformation. It is estimated that between 2010 and 2020 there will be a 50-fold growth of data.

Just a decade ago, many did not even see a need for a smart phone, whereas today, each click, step we take, meal we eat, and more is documented, logged and analyzed on a level of granularity not possible a decade ago.

Concurrent with the collection of personal data, we are also amassing a mountain of biological data (such as genomics, microbiome, proteomics, exposome, transcriptome, and metabolome). This biological-big-data coupled with advanced analytical tools has led to a deeper understanding about fundamental human biology. Further, digitization is revolutionizing health care, allowing for patient reported symptoms, feelings, health outcomes and records such as radiographs and pathology images to be captured as mineable data.

As these datasets grow and have the opportunity to be combined, what is the potential impact to biotechnology and human health? And better still, what is the impact on individual privacy?

Disclaimer: The authors above do not necessarily reflect the policies or positions of the organizations with which they are affiliated.

Image: Infographic developed by the California Biotechnology Foundation: A special thank you to Patricia Cooper, Executive Director, California Biotechnology Foundation

Daniel Heath, Senior Lecturer in the University of Melbourne's Department of Biomedical Engineering & Elizabeth Baca & Elizabeth ODay

One of the most fundamental and powerful data sets for human health is the human genome. DNA is our biological instruction set composed of billions of repeating chemical groups (thymine, adenine, guanine, and cytosine) that are connected to form a code. A persons genome is the complete set of his or her DNA code, ie the complete instructions to make that individual.

DNA acts as a template to produce a separate molecule called RNA through the process of transcription. Many RNA molecules in turn act as a template for the production of proteins, a process referred to as translation. These proteins then go on to carry out many of the fundamental cellular tasks required for life. Therefore any unwanted changes in DNA can have downstream effects on RNA and proteins. This can have little to no effect or result in a wide range of diseases such as Huntingtons disease, cystic fibrosis, sickle cell anaemia, and many more.

Genomic sequencing involves mapping the complete set, or part of individuals DNA code. Being able to detect unwanted changes in DNA not only provides powerful insight to understand disease but can also lead to new diagnostic and therapeutic interventions.

The first human genome sequence was finished in 2003, took 13 years to complete, and cost billions of dollars. Today due to biotech and computational advancements, sequencing a persons genome costs approximately $1,000 and can be completed in about a day.

Important milestones in the history of genomics

1869 - DNA was first identified

1953 - Structure of DNA established

1977 - DNA Sequencing by chemical degradation

1986 - The first semi-automated DNA sequencing machine produced

2003 - Human genome project sequenced first entire genome at the cost of $3 billion

2005 - Canada launches personal genome project

2007 - 23andMe markets first direct to consumer genetic testing for ancestry of autosomal DNA

2008 - First personal genome sequenced

2012 - England launched (and finished in 2018) 100K genome project

2013 - Saudi Arabia launched the Saudi Human Genome Program

2015 - US launched plan to sequence one million genomes

2015 - Korea launched plan to sequence 10K genomes

2016 - US launched All of Us Research cohort to enroll one million or more participants to collect lifestyle, environment, genetic, and biologic data

2016 - China launched the Precision Medicine initiative with 60 billion RMB

2016 - France started Genomic Medicine 2025 Project

Treatments available today due to DNA technology

Knowing the structure and function of DNA has also enabled us to develop breakthrough biotechnology solutions that have greatly improved the quality of life of countless individuals. A few examples include:

Genetic screenings for diseases. An individual can scan his or her DNA code to look for known mutations linked to disease. Newborns are often screened at birth to identify treatable genetic disorders. For instance, all newborns in the US are screened for a disease called severe combined immunodeficiency (SCID). Individuals with this genetic disease lack a fully functional immune system and usually die within a year, if not treated. However, due to regular screenings, these newborns can receive a bone marrow transplant, which has a more than 90% of success rate to treat SCID. A well-known example in adults is screening women for mutations in the BRCA1 and BRCA2 genes as risk factor for developing breast cancer or ovarian cancer.

Recombinant protein production. This technology allows scientists to introduce human genes into microorganisms to produce human proteins that can be introduced back to patients to carry out vital functions. In 1978, the company Genentech developed a process to recombinantly produce human insulin, a protein needed to regulate blood glucose. Recombinant insulin is still used to treat diabetes.

CAR T cells. CAR T cell therapy is a technique to help your immune system recognize and kill cancer cells. Immune cells, called T-cells, from a cancer patient are isolated and genetically engineered to express receptors that allow them to identify cancer cells. When these modified T cells are put back into the patient they can help find and kill the cancer cells. Kymriah, used to treat a type of leukemia, and Yescarta, used to treat a type of lymphoma are examples of FDA approved CAR T cell treatments.

Gene therapy. The goal of gene therapy is to replace a missing or defective gene with a normal one to correct the disorder. The first in vivo gene therapy drug, Luxterna, was approved by the FDA in 2017 to treat an inherited degenerative eye disease called Lebers congenital amaurosis.

Disclaimer: The authors above do not necessarily reflect the policies or positions of the organizations with which they are affiliated.

Frontiers in DNA technology

Our understanding of genetic data continues to lead to new and exciting technologies with the potential to revolutionize and improve our health outcomes. A few examples being developed are described below.

Organoids for drug screening. Organoids are miniature and simplified organs that can be developed outside the body with a defined genome. Organoid systems may one day be used to discover new drugs, tailor treatments to a particular persons disease or even as treatments themselves.

CRISPR-Cas9. This is a form of gene therapy - also known as genetic engineering - where the genome is cut at a desired location and existing genes can either be turned off or modified. Animal models have shown that this technique has great promise in the treatment of many hereditary diseases such as sickle cell disease, haemophilia, Huntingtons disease, and more.

We believe sequencing will become a mainstay in the future of human health.

While genomic data is incredibly insightful, it is important to realize, genomics rarely tells the complete story.

Except for rare cases, just because an individual has a particular genetic mutation does not mean they will develop a disease. Genomics provides information on what could happen to an individual. Additional datasets such the microbiome, metabolome, lifestyle data and others are needed to answer what will happen.

Disclaimer: The authors above do not necessarily reflect the policies or positions of the organizations with which they are affiliated.

Elizabeth ODay & Elizabeth Baca

The microbiome is sometimes referred to as the 'essential organ', the'forgotten organ', our 'second genome' or even our 'second brain'. It includes the catalog of approximately 10-100 trillion microbial cells (bacteria, archea, fungi, virus and eukaryotic microbes) and their genes that reside in each of us. Estimates suggest we have 150 times more microbial DNA from more than 10,000 different species of known bacteria than human DNA.

Microbes reside everywhere (mouth, stomach, intestinal tract, colon, skin, genitals, and possibly even the placenta). The function of the microbiome differs according to different locations in the body and with different ages, sexes, races and diets of the host. Bacteria in the gut digest foods, absorb nutrients, and produce beneficial products that would otherwise not be accessible. In the skin, microbes provide a physical barrier protecting against foreign pathogens through competitive exclusion, and production of antimicrobial substances. In addition, microbes help regulate and influence the immune system. When there is an imbalance in the microbiome, known as dysbiosis, disease can develop. Chronic diseases such as obesity, inflammatory bowel disease, diabetes mellitus, metabolic syndrome, atherosclerosis, alcoholic liver disease (ALD), nonalcoholic fatty liver disease (NAFLD), cirrhosis, hepatocellular carcinoma and other conditions are linked to improper microbiome functioning.

Milestones in our understanding of the microbiome

1680s - Dutch scientist Antonie van Leeuwenhoek compared his oral and fecal microbiota. He noted striking differences in microbes between these two habitats and also between samples from individuals in different states of health.

1885 - Theodor Escherich first describes and isolates Escherichia coli (E. coli) from the feces of newborns in Germany

1908 - Elie Metchnikoff, Russian zoologist, theorized health could be enhanced and senility delayed by bacteria found in yogurt

1959 - Germ-free animals (mice, rats, rabbits, guinea pigs, and chicks) reared in stainless steel in plastic housing to study the effects of health in microbe-free environments

1970 - Dr. Thomas D. Luckey estimates 100 billion colonies of microbes in one gram of human intestinal fluid or feces.

1995 - Craig Venter and a team of researchers sequence the genome of bacterium Haemophilus influenza, making it the first organism to have its genome completely sequenced.

1996 - The first human fecal sample is sequenced using 16S rRNA sequencing.

2001- Scientist Joshua Lederberg credited with coining term microbiome.

2005 - Researchers identify bacteria in amniotic fluid of babies born via C-section

2006- First metagenomic analysis of the human gut microbiome is conducted

2007- NIH sponsored Human Microbiome Project (HMP) launches a study to define how the microbial species affect humans and their relationships to health

2009- First microbiome study showing an association between gut microbiome in lean and obese adults

2011- German researchers identify 3 enterotypes in the human gut microbiome: Baceroids, Prevotella, and Ruminococcus

2011- Gosalbes performed the first metatransciptomic analysis of healthy human gut microbiota

2012 - HMP unveils first map of microbes inhabiting healthy humans. Results generated from 80 collaborating scientific institutions found more than 10,000 microbial species occupy the human ecosystem, comprising trillions of cells and making up 1-3% of the bodys mass.

2012 - American Gut Project founded, providing an open-to-the-public platform for citizen scientists seeking to analyze their microbiome and compare it to the microbiomes of others.

2014 - The Integrative Human Microbiome Project (iHMP), begins with goal of studying 3 microbiome-associated conditions.

2016 - The Flemish Gut Flora Project, one of the worlds largest population-wide studies on variations in gut microbiota publishes analysis on more than 1,100 human stool samples.

2018 - The American Gut Project publishes the largest study to date on the microbiome. The results include microbial sequence data from 15,096 samples provided by11,336 participants across the US, UK, Australia and 42 other countries.

What solutions are already (or could be) derived from this dataset?

Biotechnology solutions based off microbiome data have already been developed or are in the process of development. A few key examples are highlighted below:

Probiotics. Probiotics are beneficial bacteria that may prevent or treat certain disease. They were first theorized in 1908 and are now a common food additive. From yogurts to supplements, various probiotics are available for purchase in grocery stores and pharmacies, claiming various benefits. For example probiotic VSL#3 has been shown to reduce liver disease severity and hospitalization in patients with cirrhosis.

Diagnostics. Changes in composition of particular microbes are noted as potential biomarkers. An example includes the ratio of Bifidobacterium to Enterobacteriaceae know as the B/E ratio. A B/E greater than 1 suggests a healthy microbiome and a B/E less than 1 could suggest cirrhosis or particular types of infection.

Fecal Microbiome transplantation (FMT). Although not FDA-approved, fecal microbiome transplantation (FMT) is a widely used method where a fecal preparation from a healthy stool donor is transplanted into the colon of patient via colonoscopy, naso-enteric tube, or capsules. FMT has been used to treat Clostridium difficile infections with 80-90% cure rates (far better efficacy than antibiotics).

Therapeutics. The microbiome dataset is also producing several innovative therapies. Development of bacteria consortia and single strains (both natural and engineered) are in clinical development. Efforts are also underway to identify and isolate microbiome metabolites with important function, such as the methicillin-resistant antibiotics that were identified by primary sequencing of the human gut microbiome.

By continuing to build the microbiome dataset and expand our knowledge of host-microbiome interactions, we may be able correct various states of disease and improve human health.

Disclaimer: The authors above do not necessarily reflect the policies or positions of the organizations with which they are affiliated.

Pam Randhawa, CEO and founder of Empiriko Corporation, Andrew Steinberg, Watson Institute for International and Public Affairs, Brown University, Elizabeth Baca & Elizabeth ODay

For centuries, physicians were limited by the data they were able to obtain via external examination of an individual patient or an autopsy.

More recently, technological advancements have enabled clinicians to identify and monitor internal processes which were previously hidden within living patients.

One of the earliest examples of applied technology occurred in the 1890s when German physicist Wilhelm Rntgen discovered the potential medical applications of X-rays.

Since that time, new technologies have expanded clinical knowledge in imaging, genomics, biomarkers, response to medications, and the microbiome. Collectively, this extended database of high quality, granular information has enhanced the physicians diagnostic capabilities and has translated into improved clinical outcomes.

Todays clinicians increasingly rely on medical imaging and other technology- based diagnostic tools to non-invasively look below the surface to monitor treatment efficacy and screen for pathologic processes, often before clinical symptoms appear.

In addition, the clinicians senses can be extended by electronic data capture systems, IVRS, wearable devices, remote monitoring systems, sensors and iPhone applications. Despite access to this new technology, physicians continue to obtain a patients history in real-time followed by a hands-on assessment of physical findings, an approach which can be limited by communication barriers, time, and the physicians ability to gather or collate data.

One of the largest examples of clinical data collection, integration and analysis occurred in the 1940s with the National Heart Act which created the National Heart Institute and the Framingham Heart Study. The Framingham Original Cohort was started in 1948 with 5,209 men and women between the ages of 30-62 with no history of heart attack or stroke.

Over the next 71 years, the study evolved to gather clinical data for cardiovascular and other medical conditions over several generations. Prior to that time the concepts of preventive medicine and risk factors (a term coined by the Framingham study) were not part of the medical lexicon. The Framingham study enabled physicians to harness observations gathered from individuals physical examination findings, biomarkers, imaging and other physiologic data on a scale which was unparalleled.

The adoption of electronic medical records helped improve data access, but in their earliest iterations only partially addressed the challenges of data compartmentalization and interoperability (silos).

Recent advances in AI applications, EMR data structure and interoperability have enabled clinicians and researchers to improve their clinical decision making. However, accessibility, cost and delays in implementing global interoperability standards have limited data accessibility from disparate systems and have delayed introduction of EMRs in some segments of the medical community.

To this day, limited interoperability, the learning curve and costs associated with implementation are cited as major contributors to physician frustration, burnout and providers retiring early from patient care settings.

However, an interoperability platform known as Fast Healthcare Interoperability Resources (FHIR, pronounced "FIRE") is being developed to exchange electronic health records and unlock silos. The objective of FHIR is to facilitate interoperability between legacy health care systems. The platform facilitates easier access to health data on a variety of devices (e.g., computers, tablets, cell phones), and allows developers to provide medical applications which can be easily integrated into existing systems.

As the capacity to gather information becomes more meaningful, the collection, integration, analysis and format of clinical data submission requires standardization. In the late 1990s, the Clinical Data Interchange Standards Consortium (CDISC) was formed to develop and support global, platform-independent data standards which enable information system interoperability to improve medical research. Over the past several years, CDISC has developed several models to support the organization of clinical trial data.

Milestones in the discovery/development of clinical data and technologies

500BC - The world's first clinical trial recorded in the Book of Daniel in The Bible

1747 - Linds Scurvy trial which contained most characteristics of a controlled trial

1928 - American College of Surgeons sought to improve record standards in clinical settings

Read the rest here:
6 expert essays on the future of biotech - World Economic Forum

Bill to withhold genetic test information from insurance companies gains momentum in Florida – Orlando Weekly

Incoming House Speaker Chris Sprowls had little trouble Thursday convincing members of a House health-care panel to approve legislation that would prohibit life-insurance, long-term care insurance and disability-insurance companies from using customers genetic information in changing, denying or canceling policies.

Florida would become the first state to have such a law if Sprowls proposal is ultimately passed by the Legislature and signed by Gov. Ron DeSantis.

Members of the House Health & Human Services Committee passed Sprowls bill (HB 1189) without any debate, and committee Chairman Ray Rodrigues, R-Estero, praised Sprowls for introducing the bill.

I think our privacy is important. And I think its equally important to be a visionary, to look forward and I'm happy that Florida is going to be the state that leads the way on this issue, Rodrigues said.

Insurance industry lobbyists, who opposed the measure, sat quietly, agreeing to waive their speaking time.

Curt Leonard, regional vice president for state relations for the American Council of Life Insurers, said his association had expressed concerns on the issue for the past two years.

Weve expressed our concerns with Speaker Sprowls and other interested parties on this issue going back to 2018. So theres no point in repeating the same things over and over again, in the interest of the committee's time, Leonard said. That being said, we do share the speaker-designates (Sprowls) concerns about privacy. I think it's a concern for everybody.

Hours before the committee considered the bill, supporters launched a website dubbed Protecting Our DNA and a Facebook page.

The website also includes a petition and animated digital video helping to explain the issue.

Sprowls told reporters after the meeting that the social media campaign was launched to educate the public.

I think most people, myself included up until a couple years ago, (werent) aware that if you had gotten a genetic test, that was something that your insurance company could get. I think when you tell people whove said they have 23andMe or who have had a genetic test in a clinical setting, whatever the reason, they had no idea that they have this massive liability by giving it to their insurance companies, he said. So its part about raising the awareness for people that its a danger and that this bill will help close the loophole and garner support. We want them to know about the bill. We want them to be educated on the topic.

In addition to preventing insurers from using the information in making policy decisions, Sprowls bill also would block the companies from requiring or soliciting genetic information from applicants.

Sprowls said insurance companies have for years been able to sell policies without having access to the genetic data.

Insurance carriers have been successful without access to genetic information. They have been able to provide affordable coverage to consumers without genetic information. Insurance is about spreading risk, not guaranteeing the outcomes or rewards to the (carriers). And affordable life, disability, and health insurance should not be available simply to the genetic elite, Sprowls said.

Florida Chief Financial Officer Jimmy Patronis, who helps oversee the insurance industry, also backs efforts to pass legislation. In a statement issued after the vote, Patronis, said "As DNA testing becomes more popular through companies like 23andMe and AncestryDNA, we must ensure that your genetic code is not used against you."

Federal law already prevents health insurers from using genetic information in underwriting policies and in setting premiums. But the prohibition doesnt apply to life insurance or long-term care coverage, which Sprowls described as a massive loophole.

Florida isnt the only state to look at the issue. California, New Jersey, and New York require insurers to get informed consent when requesting genetic testing for life or disability insurance, according to a Florida legislative staff analysis.

Also, Massachusetts prohibits unfair discrimination on the basis of genetic information or tests and prevents requiring applicants or existing policyholders to undergo genetic testing. In Arizona, life and disability insurance carriers are prohibited from using genetic information for underwriting or ratemaking unless supported by an applicants medical condition, medical history and either claims experience or actuarial projections.

Its unusual for incoming House speakers and Senate presidents to file bills under their names. But Sprowls, a cancer survivor, said its an honor to do so.

While Sprowls influence looms large in the House, he must convince the Florida Senate to go along. For that, Sprowls said he will look to Sen. Kelli Stargel, R-Lakeland, to spearhead the issue.

I leave the Senate in her capable hands, Sprowls said.

Senate President Bill Galvano, though, told The News Service of Florida that he supports a potential compromise on the issue.

Leonard said a compromise would authorize consumers to use their private information any way they want to. And that might include them wanting to share their genetic science or genetic testing information, he said. So we dont like the idea that consumers will be handcuffed in how they use that information.

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Bill to withhold genetic test information from insurance companies gains momentum in Florida - Orlando Weekly

Direct-to-Consumer (DTC) Genetic Testing Market 2020 Share Growing Rapidly with Recent Trends, Revenue, Top Players, Development, Demand and Forecast…

Increasing public awareness and increasing amount of companies delivering Direct-To-Consumer Genetic Testing is expected to drive the market growth.Data Bridge Market Researchhas recently announced publishing of a report, titledGlobal Direct-to-Consumer (DTC) Genetic Testing Market Industry Trends and Forecast to 2026As per the report, Global direct-to-consumer (DTC) genetic testing market is set to witness a healthyCAGR of 18%in the forecast period of 2019-2026. The report contains data of the base year 2018 and historic year 2017. This research report covers the present scenario and the growth prospects of the global Direct-to-Consumer (DTC) Genetic Testing industry. The report also enlists several important factors share, size, growth, trends, global statistics, key manufacturers and 2026 forecast analysis.

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The report Global Direct-to-Consumer (DTC) Genetic Testing Market intends to provide cutting-edge market intelligence and help decision makers take sound investment evaluation. Also identifies and analyses the emerging trends along with major drivers, challenges, opportunities and entry strategies for various companies in the global Direct-to-Consumer (DTC) Genetic Testing Industry.

The report profiles some of the Leading Players in the global Direct-to-Consumer (DTC) Genetic Testing Market. These include:EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics, Inc., Quest Diagnostics Incorporated, Abacus Diagnostica Oy among others.

The report focusses on weaknesses and strengths of the global Direct-to-Consumer (DTC) Genetic Testing market with a competitive landscape that includes information on some market vendors. Information presented in the report is gathered from primary and secondary research methods. The report also presents recent trends and opportunities of the market helping players strive for the lions share in the market.

Explore Key Industry Insights In 60 Tables And 220 Figures From The 350 Pages Of Report,Global Direct-to-Consumer (DTC) Genetic Testing Market

The global Direct-to-Consumer (DTC) Genetic Testing market report covers scope and product overview to define key terms and offers detailed information about market dynamics to the readers. This is followed by a regional outlook and segmental analysis. The report also consists of the facts and key values of the global Direct-to-Consumer (DTC) Genetic Testing market, in terms of sales and volume, revenue and its growth rate.

One of the important factors in the global Direct-to-Consumer (DTC) Genetic Testing market report is competitive analysis. The report covers all of the key parameters, such as product innovation, market strategies of the key players, market share, revenue generation, the latest research and development and market experts views.

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

By Service:Diagnostic Screening ,Prenatal ,Newborn Screening, Pre-Implantation Diagnosis, Relationship Testing.

By Test type:Carrier Testing ,Predictive Testing ,Ancestry & relationship Testing ,Nutrigenomics Testing ,Others.

By Technology:Targeted Analysis ,Single Nucleotide Polymorphism (SNP) Chips, Whole Genome Sequencing (WGS) ,By Product type, Ancestry, Health and Wellness, Entertainment,

By End User:Laboratories, Blood Banks, Nursing Homes, Hospitals, Imaging Centers, Home Care, Cosmetics, Others, By Sales Channel, Online Channel, Over the Counter Channel, Doctors Office

By Business Model

Competitive Analysis: Global Direct-to-Consumer (DTC) Genetic Testing Market

The global Direct-to-Consumer (DTC) Genetic Testing market is highly fragmented and the major players have used various strategies such as product (software) launches, agreements, joint ventures, partnerships, acquisitions, and others to increase their footprints in this market. The report includes market shares of Direct-to-Consumer (DTC) Genetic Testing market for global, Europe, North America, Asia Pacific and South America.

Primary Respondents

Demand Side: Doctors, Surgeons, Medical Consultants, Nurses, Hospital Buyers, Group Purchasing Organizations, Associations, Insurers, Medical Payers, Healthcare Authorities, Universities, Technological Writers, Scientists, Promoters, and Investors among others.

Supply Side: Product Managers, Marketing Managers, C-Level Executives, Distributors, Market Intelligence, and Regulatory Affairs Managers among others.

Key Developments in the Market:

In May 2019, MyHeritage Ltd. pronounce the launch of the MyHeritage DNA Health+Ancestry test, which gives new scopes of genetic awareness to enhance the life, enlighten the health further assists in leading a better life. It will also help the company to strengthen their genetic testing, clinical trial, and consulting capabilities in the areas of R&D providing accurate information about their genes.

In October 2018, 23andme, Inc. received the U.S. FDA approval for de novo technology, which is being operated in pharmacogenetics tests. Representing how consumers genetics may impact the way they break down certain medications. This approval will permit the company to introduce innovative and advanced products, thereby fostering companys growth.

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Research Methodology: Global Direct-to-Consumer (DTC) Genetic Testing Market

Data collection and base year analysis is done using data collection modules with large sample sizes. The market data is analysed and forecasted using market statistical and coherent models. Also market share analysis and key trend analysis are the major success factors in the market report. To know more please request an analyst call or can drop down your enquiry.

The key research methodology used by DBMR research team is data triangulation which involves data mining, analysis of the impact of data variables on the market, and primary (industry expert) validation. Apart from this, other data models include Vendor Positioning Grid, Market Time Line Analysis, Market Overview and Guide, Company Positioning Grid, Company Market Share Analysis, Standards of Measurement, Top to Bottom Analysis and Vendor Share Analysis. To know more about the research methodology, drop in an inquiry to speak to our industry experts.

Customization of the Report

All segmentation provided above in this report is represented at country level.

All products covered in the market, product volume and average selling prices will be included as customizable options which may incur no or minimal additional cost (depends on customization)

Table of Content:Global Direct-to-Consumer (DTC) Genetic Testing Market

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Direct-to-Consumer (DTC) Genetic Testing Market 2020 Share Growing Rapidly with Recent Trends, Revenue, Top Players, Development, Demand and Forecast...

New scan could see active breast tumour regions in ‘real-time’ – PharmaTimes

Cancer Research UK has announced that a new type of scan involving magnetising molecules could allow doctors to see in real-time which regions of a breast tumour are active.

According to research, which was funded by the UK organisation, carbon-13 hyperpolarised imaging can be used to monitor breast cancer.

Published in Proceedings of the National Academy of Sciences, the report shows that researchers tested the technique in seven patients from Adenbrookes Hospital with various types and grades of breast cancer before they had received any treatment.

They used the scan to measure how fast the patients tumours were metabolising a naturally occurring molecule called pyruvate, and were able to detect differences in the size, type and grade of tumours a measure of how fast growing, or aggressive the cancer is.

Professor Kevin Brindle, lead researcher from the Cancer Research UK Cambridge Institute, said that the results show one of the most detailed pictures of the metabolism of a patients breast cancer that weve ever been able to achieve. Its like we can see the tumour breathing.

He continued, Combining this with advances in genetic testing, this scan could in the future allow doctors to better tailor treatments to each individual, and detect whether patients are responding to treatments, like chemotherapy, earlier than is currently possible.

Breast cancer is the most common type of cancer in the UK, with around 55,000 new cases each year. 80% of people with breast cancer survive for 10 years or more, however for some subtypes, survival is much lower.

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New scan could see active breast tumour regions in 'real-time' - PharmaTimes

The causes of epilepsy are not always clear, but there are ways to treat and prevent it –

About 150,000 new cases of epilepsy are confirmed in the U.S. each year. But the cause of epilepsy a neurological condition that causes seizures remains unknown for 6 out of 10 people.

Scientists suspect unidentified genetic factors are likely behind the epilepsy cases with unknown causes,according to theEpilepsy Foundation. Because the relationship between genes and seizures is complex, genetic testing is unavailable for many forms of epilepsy.

Additionally, the identified causes of epilepsy can vary by a person's age.For some, structural brain abnormalities including congenital conditions and injury-based changes spark seizures. For others, metabolic disorders, brain infections or immune-related changes cause epilepsy.

Despite the unknowns surrounding epilepsy's cause,scientists have identified ways to reduce the risk of developing it.

Anyone at any age can develop epilepsy. The marked characteristic of the disorder is the frequency of seizures. A person is diagnosed with epilepsy after they have had two or more of them.

A seizure occurs when there is a surge of electrical activity in the brain that can affect how a person looks or acts. The appearance of a seizure depend on the parts of the brain that are affected. Sometimes, a personwon't experience any noticeable symptoms during an episode.

There are generally three stages of a seizure, but not every victims experiences all three.

For some, the first symptom is an aura sensory or visual impairment. The heart of the electrical activity occurs during the middle, or ictal, phase. During this phase a person may have trouble talking or moving and experience tremors, muscle spasms or convulsions. Some people even have out of body sensations.

The third phase, known as the postictal phase, is the recovery period. It can take anywhere from a few minutes to a few hours to bounce back from a seizure.

The most common types of seizures that affect both sides of the brain are petit mal and grand mal seizures.

During a petit mal seizure, a person experiences more minor symptoms, like rapid blinking or spacing out for a few moments. But during a grand mal, the victim may lose consciousness and collapse to the ground.

People with epilepsy may be diagnosed with a particular syndrome based on certain features, like the type of seizure, cause and their age at initial onset. For example, Doose Syndrome occurs mostly in boys and has an initial onset in early childhood. It can be difficult to control with medication.

There is no cure for epilepsy, but medication can help control the seizures. Most people living with epilepsy can engage in their normal activities as long as their seizures remain under control.In the case of more severe, uncontrollable seizures, a doctor may recommend surgery.

Uncontrollable seizures can cause development issues in children and prevent adults from being able to drive and maintain a job.

Epileptic seizures also can be fatal.The Centers for Disease Control and Prevention reports that there are approximately 1.16 cases of sudden unexpected death per 1,000 people withepilepsy each year.

Though there are a lot unknowns regarding the causes of epilepsy, the CDC and the Mayo Clinic suggest various recommendations toreduce risk:

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The causes of epilepsy are not always clear, but there are ways to treat and prevent it -

Embryo research to reduce the need for in vitro fertilization raises ethical concerns – BioNews

20 January 2020

Researchers testing a new way to harvest embryosfor genetic screening have been criticised for payingwomen in Mexico to be inseminated.

The study, published online in Human Reproduction, involved 81 women at a hospital near Puerto Vallarta, Mexico. Each participant was paid about $1400 to be artificially inseminated and subsequentlyto undergo a procedure where the embryos were flushed from the womb and analysed for research.

Lead investigator Dr Santiago Munnsuggests the new method could offer a simpler, less expensive way to assure a healthy child for couples with high risk for passing on genetic disease, such as beta-thalassemia or cystic fibrosis.

'The advantage is that these embryos are conceived naturally, so you don't need in vitro fertilisation (IVF) to do the genetic testing of the embryos. In theory, it should be much cheaper,' Dr Munn said.

As a first step, the participants received hormone injections to stimulate their ovaries' eggproduction a standard way to increase the number ofeggs obtained in fertility treatments.

Unlike IVF, the eggs weren't extracted before fertilisation in the lab, instead fertilisation was achieved in vivo by means of insemination with donor sperm. Four to six days later, the resulting embryos were flushed out using a mechanical procedure called 'lavage' and analysed,comparing them to embryos produced via IVF.

Theresearch has been calledunethical by critics.

'What this essentially does is use a woman's body as a petri dish, and there's something about that that seems so profoundly disturbing,' Dr Laurie Zoloth,a bioethicist from the University of Chicago, told NPR.

Other issues include the payment participants received, equal to more than two month's average salary in the area, which might become coercive to participants living on the poverty line.

The study also posedhealth risks to the participating women, who received intensive hormone stimulation. In some cases the lavage did not remove all the embryos, making terminations necessary.

Editor-in-chief of Human Reproduction, Professor Lambalk, told NPR that after verifying that the research had been thoroughly reviewed, they decided to publish the study along with an editorial and a commentary to draw attention to the ethical issues it raised.

In response to the criticism, Dr Munn referred to the extensive review and subsequent approval by the Ministry of Health of the State of Nayarit, Mexico, and the Western Institutional Review Board in the United States. Furthermore, he noted that the women were fully informed ofrisks associated with participation.

Embryos produced in the study have been frozen to be used by couples experiencing infertility and have been used to produce at least five pregnancies and three, thus far, healthy babies.

More here:
Embryo research to reduce the need for in vitro fertilization raises ethical concerns - BioNews

Direct-to-Consumer (DTC) Genetic Testing Market Astonishing Growth| EasyDNA, Ancestry, 23andMe, Gene by Gene – Fusion Science Academy

The Global Direct-to-Consumer (DTC) Genetic Testing Market study with 100+ market data Tables, Pie Chat, Graphs & Figures is now released by Data Bridge Market Research. The report presents a complete assessment of the Market covering future trend, current growth factors, attentive opinions, facts, and industry validated market data forecast till 2026. Delivering the key insights pertaining to this industry, the report provides an in-depth analysis of the latest trends, present and future business scenario, market size and share of Major Players such as EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics.

Global direct-to-consumer (DTC) genetic testing market is set to witness a healthy CAGR of 18% in the forecast period of 2019-2026.

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Market Dynamics:

Set of qualitative information that includes PESTEL Analysis, PORTER Five Forces Model, Value Chain Analysis and Macro Economic factors, Regulatory Framework along with Industry Background and Overview.

Global Direct-to-Consumer (DTC) Genetic Testing Research Methodology

Data Bridge Market Research presents a detailed picture of the market by way of study, synthesis, and summation of data from multiple sources. The data thus presented is comprehensive, reliable, and the result of extensive research, both primary and secondary. The analysts have presented the various facets of the market with a particular focus on identifying the key industry influencers.

Major Drivers and Restraints of the Direct-to-Consumer (DTC) Genetic Testing Industry

Market Drivers

High ageing population and growing prevalence of genetic diseases will boost this market growth

Growing customer awareness about the DTC genetic testing acts as a market driver

Tests are effortlessly accessible to the customers around the world; this factor acts as a major market driver

Market Restraints

High charges of DTC genetic testing kits can hamper the growth of this market

Lack of skilled and trained professional is another factor restraining the growth of the market

Scientific, technical and clinical issues along with fidelity to facts and truth-in-advertising can also act as restraining factor for the growth of this market

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For an excellent outcome of Direct-to-Consumer (DTC) Genetic Testing report, qualitative and transparent research studies are carried out devotedly for the specific niche. Being a global market research report, it also identifies, analyses, and estimates the emerging trends along with major drivers, challenges and opportunities in the industry and analysis of vendors, geographical regions, types, and applications. An idea about competitive landscape plays very important role in deciding about the improvements required in the product and more. As businesses can achieve thorough insights with this report, they can confidently take decisions about their production and marketing strategies.

The titled segments and sub-section of the market are illuminated below:

Region Included are: United States, Europe, China, Japan, Southeast Asia, India & Central & South America

By Service: Diagnostic Screening, Prenatal, Newborn Screening, Pre-Implantation Diagnosis

By Product Type: Ancestry, Health and Wellness, Entertainment

By Business Model: Genome Data Bank Material Model, Individual Health Planning Model

Top Players in the Market are: EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics.

How will the report help new companies to plan their investments in the Direct-to-Consumer (DTC) Genetic Testing market?

The Direct-to-Consumer (DTC) Genetic Testing market research report classifies the competitive spectrum of this industry in elaborate detail. The study claims that the competitive reach spans the companies of .

The report also mentions about the details such as the overall remuneration, product sales figures, pricing trends, gross margins, etc.

Information about the sales & distribution area alongside the details of the company, such as company overview, buyer portfolio, product specifications, etc., are provided in the study.

Any query? Enquire Here For Discount Or Report Customization:

Some of the Major Highlights of TOC covers:

Chapter 1: Methodology & Scope

Definition and forecast parameters

Methodology and forecast parameters

Data Sources

Chapter 2: Executive Summary

Business trends

Regional trends

Product trends

End-use trends

Chapter 3: Direct-to-Consumer (DTC) Genetic Testing Industry Insights

Industry segmentation

Industry landscape

Vendor matrix

Technological and innovation landscape

Chapter 4: Direct-to-Consumer (DTC) Genetic Testing Market, By Region

Chapter 5: Company Profile

Business Overview

Financial Data

Product Landscape

Strategic Outlook

SWOT Analysis

Thanks for reading this article, you can also get individual chapter wise section or region wise report version like North America, Europe or Asia.

About Data Bridge Market Research:

An absolute way to forecast what future holds is to comprehend the trend today!Data Bridge set forth itself as an unconventional and neoteric Market research and consulting firm with unparalleled level of resilience and integrated approaches. We are determined to unearth the best market opportunities and foster efficient information for your business to thrive in the market. Data Bridge endeavors to provide appropriate solutions to the complex business challenges and initiates an effortless decision-making process. Data bridge is an aftermath of sheer wisdom and experience which was formulated and framed in the year 2015 in Pune.


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Direct-to-Consumer (DTC) Genetic Testing Market Astonishing Growth| EasyDNA, Ancestry, 23andMe, Gene by Gene - Fusion Science Academy

JPM20: Health technology company Color scores $75M funding round to scale its infrastructure – FierceHealthcare

Health technology and precision genomics company Color has raised $75 million in a series D funding round led by T. Rowe Funds andViking Global Investors.

TheBurlingame, California-based company counts Apple, Verily, Northshore University HealthSystem,the Teamsters Health and Welfare Fund of Philadelphia and Vicinity, and now Sanford Health among its partners.

Color has raised $150 million in financing to date, according to Color spokesman Ben Kobren. Kobren said the value of the company's contracts has grown significantly in the past year,and the company has expanded its margins. The recently raised funds will help Colorscale its infrastructure.

Color was recently named one of FierceHealthcare's Fierce 15 2020 award winners.

In 2019 alone, Color announced a slew of new partnerships, including withthe Teamsters Health and Welfare Fund of Philadelphia and Vicinityto provide access to Color's clinical-grade genomic services to about 14,000 members of their regional unions.

Color also is teaming up with Ochsner Health System on a first-of-its-kind, fully digital population health pilot program that integrates clinical genomics intostandard care.

The company is expanding its partnerships with healthcare systems looking to integrate genetic testing into the primary care setting. This week, the company announced that it had met its goal of enrolling 10,000 patients into the DNA-10K programa year after launching itwith NorthShore University Health System.

RELATED:Ochsner Health System teaming up with Color to integrate genetic information into preventive care

At the38th J.P.Morgan Healthcare Conference in San Francisco this week, Color also announced that it is working with Sanford Health, the nations largest rural not-for-profit healthcare system,to build on its Imagenetics genomics program. The Imagenetics program, which began in 2014, allows Sanford Health to embed genetic medicine directly into primary care.

Through that partnership, Sanford Healthphysicians willhave further access insights to enhance clinical decision-making. Sanford also will implement Colors digital tools to engage patients, increase adoption and streamline clinical reporting across Sanford Health's locations in North Dakota, South Dakota and Minnesota, the organizations said.

The NIH All of Us Research Program awardedColora $4.6 million grant to act as the initiatives nationwide genetic counseling service. It expanded onColors existing genotyping of patient samples as part of the program.

"In the last 18 months, we saw a huge acceleration with institutions around the world and across every type of player in the health ecosystemwhether its hospitals or health systems, large-scale research programs, payers, care delivery, employerswho want to change the care delivery model for their population by understanding genetics across the population,"Caroline Savello, vice president of commercial for Color,told FierceHealthcare.

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JPM20: Health technology company Color scores $75M funding round to scale its infrastructure - FierceHealthcare

Florida Genetic Information Bill Advances in House – Government Technology

(TNS) Incoming House Speaker Chris Sprowls had little trouble Thursday convincing members of a House health-care panel to approve legislation that would prohibit life-insurance, long-term care insurance and disability-insurance companies from using customers genetic information in changing, denying or canceling policies.

Florida would become the first state to have such a law if Sprowls proposal is ultimately passed by the Legislature and signed by Gov. Ron DeSantis.

Members of the House Health & Human Services Committee passed Sprowls bill (HB 1189) without any debate, and committee Chairman Ray Rodrigues, R-Estero, praised Sprowls for introducing the bill.

I think our privacy is important. And I think its equally important to be a visionary, to look forward and I 'm happy that Florida is going to be the state that leads the way on this issue, Rodrigues said.

Insurance industry lobbyists, who opposed the measure, sat quietly, agreeing to waive their speaking time.

Curt Leonard, regional vice president for state relations for the American Council of Life Insurers, said his association had expressed concerns on the issue for the past two years.

Weve expressed our concerns with Speaker Sprowls and other interested parties on this issue going back to 2018. So theres no point in repeating the same things over and over again, in the interest of the committee's time, Leonard said. That being said, we do share the speaker-designates (Sprowls) concerns about privacy. I think it's a concern for everybody.

The bill will have to clear the Commerce Committee before it would be ready to go to the full House. Sprowls, R-Palm Harbor, is slated to become speaker after the November elections.

In addition to preventing insurers from using the information in making policy decisions, Sprowls bill also would block the companies from requiring or soliciting genetic information from applicants.

Sprowls said insurance companies have for years been able to sell policies without having access to the genetic data.

Insurance carriers have been successful without access to genetic information. They have been able to provide affordable coverage to consumers without genetic information. Insurance is about spreading risk, not guaranteeing the outcomes or rewards to the (carriers). And affordable life, disability, and health insurance should not be available simply to the genetic elite, Sprowls said.

While Sprowls influence looms large in the House, he must convince the Florida Senate to go along. For that, Sprowls said he will look to Sen. Kelli Stargel, R-Lakeland, to spearhead the issue.

Senate President Bill Galvano, though, told The News Service of Florida that he supports a potential compromise on the issue.

Leonard said a compromise would authorize consumers to use their private information any way they want to. And that might include them wanting to share their genetic science or genetic testing information, he said. So we dont like the idea that consumers will be handcuffed in how they use that information.

2020 The Orlando Sentinel (Orlando, Fla.) Distributed by Tribune Content Agency, LLC.

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Florida Genetic Information Bill Advances in House - Government Technology

Understanding Genetic Testing for Cancer

Genetics, gene mutations, and cancer risk

Genetics is the field of science that looks at how traits (such as eye color) are passed down from parents to their children through genes.

Genes are pieces of DNA (deoxyribonucleic acid) inside our cells that tell the cell how to make the proteins the body needs to function. DNA is the genetic blueprint in each cell. Genes affect inherited traits passed on from a parent to a child, such as hair color, eye color, and height. They can also affect whether a person is likely to develop certain diseases, such as cancer.

Changes in genes, called mutations, play an important role in the development of cancer. Mutations can cause a cell to make (or not make) proteins that affect how the cell grows and divides into new cells. Certain mutations can cause cells to grow out of control, which can lead to cancer. Still, only about 5% to 10% of all cancers are thought to be strongly related to an inherited gene mutation.

Usually several gene changes or mutations are needed before a cell becomes cancer.

Most cancers start because of acquired gene mutations that happen during a persons lifetime. Sometimes these gene changes have an outside cause, such as exposure to sunlight or tobacco. But gene mutations can also be random events that sometimes happen inside a cell, without a clear cause.

Acquired mutations only affect the cells that grow from the mutated cell. They do not affect all the cells in the persons body. This means all the cancer cells will have the mutations, but normal cells in the body will not. Because of this, the mutations are not passed on to a persons children.This is very different from inherited mutations, which are in every cell in the body even the cells without cancer.

Genetic testing is the use of medical tests to look for certain mutations in a persons genes. Many types of genetic tests are used today, and more are being developed.

Genetic testing can be used in many ways, but here well focus on its use in looking for gene changes linked to cancer.

Predictive genetic testing is the type of testing used to look for inherited gene mutations that might put a person at higher risk of getting certain kinds of cancer. This type of testing might be advised:

Most people (even people with cancer) do not need this type of genetic testing. Its usually done when family history suggests theres a cancer that may be inherited (see below).

Sometimes after a person has been diagnosed with cancer, the doctor will do tests on a sample of cancer cells to look for certain gene changes. These tests can sometimes give information on a persons outlook (prognosis) and help tell whether certain types of treatment might be useful.

These types of tests look for acquired gene changes only in the cancer cells that are taken from the patient. These tests are not the same as the tests used to find out about inherited cancer risk.

For more about this kind of testing and its use in cancer treatment, see our information on specific types of cancer.

Genetic counseling and testing may be recommended for people who have had certain cancers or certain patterns of cancer

in their family. If you have any of the following, you might consider genetic testing:

If you are concerned about a pattern of cancer in your family, cancer youve had in the past, or other cancer risk factors, you may want to talk to a health care provider about whether genetic counseling and testing might be a good option for you.

You need to know your family history and what kinds of tests are available. For some types of cancer, no known mutations have been linked to an increased risk. Other cancer types may have known mutations, but theres no way to test for them yet.

Family Cancer Syndromes gives you more information on the types of cancers that may be linked to inherited genes.

Its important to find out how useful testing may be for you before you do it. Talk to your health care provider and plan to meet with a genetic counselor before the actual test. This will help you know what to expect. The counselor can tell you about the pros and cons of the test, what the results might mean, and what your options are.

Understanding Genetic Testing for Cancer

Healthy Headlines: Four common myths about genetic testing and why they are not accurate – User-generated content

St. Elizabeth Healthcare

If you could take a simple test that would identify your risks of developing a potentially deadly disease so you could prevent it or treat it sooner, wouldnt you?

A proactive genetic test can do just that. Caroline Ewart, Genetic Counselor in the Center for Precision Medicine and Genomic Health at St. Elizabeth Healthcare, says, Understanding your family tree is important for your future health. Genetics play a big role in what diseases we will develop in the future. The more we understand the family, the more you can proactively do to protect your health.

Many people dont consider genetic testing because they think it is too expensive, not accurate enough, or doesnt screen for the diseases that run in their family. Ewart is helping us bust some of the common myths of genetic testing.

Myth #1: Genetic Testing is Too Expensive

When proactive genetic testing started, it was very expensive, and only a few select laboratories across the country performed the testing. Today, genetic testing is very affordable. Many health insurance companies will provide some coverage for testing, and the laboratories now have a limit on what they can charge.

A proactive screening in the Center for Precision Medicine and Genomic at St. Elizabeth Healthcare is just $395. That includes an initial genetic counseling visit, coordination of blood tests, carrier status screening, and a comprehensive consultation discussing your results. Individuals with a Flexible Spending Account (FSA) or Health Savings Account (HSA) may be able to use these funds to pay for the cost of the screening.

Myth #2: Genetic Testing Only Finds Breast Cancers

Its true, when genetic testing was in its infancy, we only tested for BRCA1 and 2 genes which detect breast and ovarian cancers, says Ewart. But the tests today are far more sophisticated. We now test for over 100 different gene mutations looking for a range of diseases and cancers.

Inherited conditions the tests screen for, include:

Breast cancer

Cardiovascular diseases

Colorectal cancer

Cutaneous melanoma

Gastric cancer

Ovarian cancer

Pancreatic cancer

Renal cell cancer

Thyroid cancer

Myth #3: Genetic Testing Doesnt Help the Treatment of Diseases like Cancer

Genetic testing is used not only to proactively screen for certain diseases, but it is used to treat cancer as well.

If you have been diagnosed with cancer, the gene mutation may guide treatment. It can also help your team manage increased risks of developing other types of cancers, says Ewart.

More importantly, the results of proactive genetic testing can guide your healthcare teams recommendations for screenings of cancer and cardiovascular diseases. This may include starting screenings at an earlier age, increasing the frequency of screenings or suggesting more advance screenings.

By screening early, we can find the disease early, when it is most treatable, says Caroline.

Myth #4: Genetic Testing isnt Accurate

Ewart says, Certainly there are limitations to testing, but our process is more than just a blood test. By gathering a thorough family history we can determine your risk factors for developing certain diseases, even if a blood test comes back negative.

At St. Elizabeth Healthcare, if you are found to be at high risk or test positive for genetic cancers, you are referred to the Heredity Cancer Clinic to develop a plan for future cancer screenings. They may also recommend your family members be tested, so you can get a full picture of your familys health. St. Elizabeth has many types of genetic screenings. To find the one that best fits your needs, or call 859-301-GENE (4363).

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Healthy Headlines: Four common myths about genetic testing and why they are not accurate - User-generated content

Genetic test kits don’t have all the answers – Harvard Health

Published: February, 2020

It's tempting to try a direct-to-consumer (DTC) genetic test kit that predicts your risk for developing certain diseases, like Alzheimer's or Parkinson's. The kit is shipped to your home, where you collect cells (typically with a cheek swab or a saliva collection tube) and then send them to a lab for DNA analysis. But a report from British researchers, published in The BMJ on Oct. 16, 2019, warns that the tests commonly produce misleading predictions of high or low genetic risk for disease. In other words, a positive result for a particular gene doesn't necessarily mean you'll develop a related health problem, and a negative result doesn't automatically mean you'll dodge a particular condition. Study authors say that interpreting genetic data is complex and depends on the context of your individual and family medical history. If you want to try a DTC test, bring the results to your physician for more insight. If your doctor determines that further investigation is warranted, he or she can refer you for genetic testing that's more comprehensive than DTC tests, performed by an accredited laboratory. Those test results may be combined with genetic counseling to help you understand what to expect and what the information might mean for your health or the health of your family members.

Disclaimer:As a service to our readers, Harvard Health Publishing provides access to our library of archived content. Please note the date of last review on all articles. No content on this site, regardless of date, should ever be used as a substitute for direct medical advice from your doctor or other qualified clinician.

Genetic test kits don't have all the answers - Harvard Health

Everyone and their brother was messaging me on Facebook. DNA tests reveal long-lost relatives, but the rest is a minefield – MarketWatch

For people like Cassandra Madison, direct-to-consumer genetic testing services from companies like 23andMe and have proven revolutionary in filling gaps about their family history.

But connecting with biological relatives in cases of adoption or conception through sperm and egg donation doesnt come with a rule book forcing both parties to make difficult, emotional decisions, often on the fly.

Madison, who now lives in Virginia Beach, Va., was adopted as an infant in 1988 from the Dominican Republic by a white American couple. Throughout her life, Madison had little information about her biological family. My mom told me as much as she knew, which was just that they were very poor and couldnt afford to keep me anymore, Madison, 31, said.

Attempts to find more information on her own always proved fruitless. The lawyer in the Dominican Republic who handled Madisons adoption falsified paperwork and lied to adoptive parents about their childrens biological relatives, Madison said. It always became a dead end, Madison said.

Then one Christmas, Madisons mother gifted her with a 23andMe genetic test, so she could learn about her heritage. When she got her test results last January, she was surprised. I didnt know you could find people, she said.

Here is Cassandra Madison meeting her biological family:

When Madison clicked on her results to see her relatives, she found over 1,000 family members had taken the DNA test, which involves spitting in a test tube, including a cousin who lived in Connecticut.

She quickly went about researching him on Facebook FB, +0.17% and soon made contact. Low and behold, 20 minutes later everyone and their brother was messaging me on Facebook, Madison said. Months later, she made the trip down to the Caribbean country, meeting her relatives for the first-time in person.

Also read: 23andMe revealed that my daughter is not mine can I claim back child support from the biological father?

Genetic testing is fast becoming ubiquitous. As of 2018, around 60% of Americans with European heritage were likely identifiable from their DNA via searches of consumer websites from companies like 23andMe and, regardless of whether they had ever taken a genetic test. One study estimated that around 100 million people will have their DNA mapped by one of these companies by 2021.

In situations where people were adopted or conceived with the assistance of a sperm or egg donor, the services from companies like 23andMe and have removed the veil of secrecy that long existed over these relationships.

Dont miss: 23andMe can open a Pandoras Box of a familys medical secrets: As hard as it is knowing, not knowing is much worse

Consumer DNA tests have changed whos in power of the information, said Brianne Kirkpatrick, a certified genetic counselor and founder of the counseling firm Watershed DNA.

Historically, mothers typically were the only ones who knew the biological origins of their children. For decades, most adoptions were closed, meaning communication between the biological parents and their child was restricted. In many circumstances, their identities were also hidden.

Until recently, most sperm and egg donors made their donations under the expectation of anonymity.

For those who went through these procedures in the last few decades with the understanding that the donors would be anonymous the rules of the game have changed dramatically and donors are being identified and, in some cases, contacted whether or not they want to be, said Kim Kluger-Bell, a psychotherapist who specializes in infertility counseling. None of the fertility clinics or sperm banks I know of really anticipated this happening.

With so many people having taken tests already, it can be easy for some to find biological relatives. But that, too, can lead to awkward circumstances, particularly when someone connects with a relative other than their biological mother or father or vice-versa.

Ive heard stories of the parents of a sperm donor going on and identifying a biological grandchild they never knew about it turned out their son had anonymously and privately donated sperm to a friend and agreed not to discuss the matter with anyone else, Kluger-Bell said. The parents of the donor wanted to contact the bio-grandchild and the parents of that child felt that this was completely inappropriate. and 23andMe have created resources for people who find themselves in these positions. There are certainly cases where a discovery might be quite unexpected. We take our responsibility towards our customers and the potential impact of complex discoveries very seriously, said Dana Chinnici, communications manager at Ancestry.

Both companies said they have experts on staff who can help customers work through some of the unexpected results they may encounter. 23andMe has a support page for customers and their family to navigate unexpected relationships, a company spokeswoman told MarketWatch.

Additionally, with both companies, customers can opt in or out of being listed as a match with other people.

When Madison was faced with the choice of reaching out to the relatives she connected with via DNA testing, she didnt hesitate. As kids we dont ask to be here, Madison reasoned.

Of course, that approach may not work for everyone. Experts who deal with situations involving adoption, and sperm or egg donation advised patience and caution when reaching out to relatives, but noted that theres not one correct approach.

There is no one size fits all scenario, said Amy Johnson Crow, a certified genealogist. Its important for the person making the contact to realize that the contact might not be welcomed. Although we all have a right to know our genetic history, we cannot force that biological parent to talk or to have a relationship.

Read more: I discovered through that my biological father is someone else can I claim an inheritance as his heir?

Heres expert advice on the etiquette surrounding establishing contact:

Give the other person space: These revelations can have major ripple effects for other people, and so it may take time for the person to respond. Remember contact starts with knowing very little of each other and, like any other relationship, needs to grow and build over time. Genetics confers relatedness but not relationships, Braverman said.

Understand potential legal ramifications: Reaching out to a biological relatives through 23andMe or could violate the terms of an adoption or sperm/egg donation agreement. One woman was threatened with a $20,000 fine after reaching out to the biological grandmother of her daughter who was born via sperm donation.

Establishing contact could leave you vulnerable to lawsuits, so before doing so its important to review the terms of these agreements in advance.

Consider hiring a professional: DNA tests are far from the only route toward discovering ones biological relatives. Genetic counselors and genealogists can assist in uncovering a persons family without these services. Moreover, these professionals can serve as an intermediary in establishing first contact with ones biological family. Kirkpatrick has served as an intermediary for clients in the past and said it can help slow down the process. Creating that buffer of space and time can ultimately lead to things going well in the end, she said.

An intermediary can also help in retrieving information from a biological relative, such as a family medical history, in instances where they do not desire further contact. Of course, this can come with trade-offs. Using an intermediary removes the pressure of an immediate response but also removes the real voice that is reaching out, Braverman said.

Keep your expectations in check: Having too high of expectations from the outset can easily lead to disappointment. To that end, experts suggested doing some self-reflection to understand what an adoptee or individual conceived via sperm or egg donation wants out of a possible connection, whether it be a relationship or something more simple like a family medical history.

Avoid making assumptions about what this biological relationship may mean to the other person, said Andrea Mechanick Braverman, a clinical professor of obstetrics and gynecology at Thomas Jefferson University.

When Madison eventually made contact with her biological family in the Dominican Republic, joy was quickly met with sadness. She found out that her birth mother had already passed away. Additionally, she also found that some of her relatives were more interested in how much money she had than in forming more meaningful relationships with her. For those and other reasons, Madison said she would not have been able to handle this whole experience without the support of a therapist.

Despite this, Madison said she doesnt regret taking the DNA test or establishing contact with her biological family. Im learning a whole other side of me and can embrace it, she said. It was the best thing to go down there and to have people say, Oh my God, you look just like your mother.

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Everyone and their brother was messaging me on Facebook. DNA tests reveal long-lost relatives, but the rest is a minefield - MarketWatch

The Case Of Pamela Maurers Murder Went Cold For Decades, Then Genetic Sleuthing By Parabon Helped Crack It – CBS Chicago

CHICAGO (CBS) Despite exhaustive work by detectives, the murder of Pamela Maurer was left unsolved for more than four decades. Last year, a relatively new form of genetic sleuthing began to put together the pieces of the mystery in a matter of days.

DuPage County investigators provided genetic material preserved from the Maurer crime scene to Maryland-based Parabon NanoLabs. Pamelas body was found in Lisle in January of 1976. She had been sexually assaulted and strangled. She was last seen alive the night before her body was found, when she told friends she was going to a restaurant to buy a soft drink.

First, Parabon, led by chief genetic genealogist CeCe Moore, used the DNA to create a snapshot genotypewhich predicts a persons physical traits, such as eye, skin and hair color, and even the shape of a face.

The composite created from that test looks remarkably similar to Bruce Lindahl, a suspected serial killer who police now say killed Maurer. Lindahl died in 1981.

But the testing didnt stop with just a picture. The hard work had only just begun.

Moores team used the DNA to reverse engineer Lindahls family tree.

Parabon loaded the DNA sample from the Maurer crime to a website called GEDmatch and began a form of genetic treasure hunting. GEDMatch is a site where users can upload their genetic testing results, done by companies like 23AndMe and Ancestry.

Typically, Moore said, they find similar DNA from distant cousins of a suspect and build back from there.

We are looking just for people who are second, third, fourth, fifth cousins and beyond, Moore said. Typically we are not getting close matches to close family members.

Basically, Parabon is reverse engineering the family tree of the suspect based on who they are sharing DNA with, Moore said.

Moore said she found multiple distant cousins that led to Lindahl, up to 20 matches and put those puzzle pieces together.

It is almost never a single match that leads to an identity. Its a group of matches to see how they all connect to each other.

My work, and my teams work is really about providing answers to these families for years and decades, Moore said.

She said part of the hunt is luck. In this case, the data allowed them to find a suspected match to Lindahl in a few days.

But Parabons work didnt solve the case. Detectives still needed more proof. So, they got a court order to exhume Lindahls body and extract DNA from his remains.

The result was a match.

The odds of the DNA belonging to somebody else are 1 in 1.8 quadrillion, DuPage County States Attorney Robert Berlin said this week.

This was the second case Parabon has done in Illinois, but the first in the Chicago area.

Last year, Moores work led to murder charges against Michael Henslick, who police say killed Holly Cassano. She was found fatally stabbed in her home in Mahomet, Ill., on Nov. 2, 2009.

That case is expected to go to trial next month, Moore said. Parabon has so far worked on 93 cases with police across the country in the past two years. The most famous charges against the suspected Golden State Killer, Joseph James DeAngelo.

Critics find the practice controversial and a potential invasion of private DNA data. Moore says the benefit to the public, ensuring that killers are put behind bars, and the fact that families get some resolution, far outweigh those concerns.

I feel that the good that has been done is really immeasurable to public safety, Moore said.

Lindahl died at age 28 in 1981 after he bled to death while stabbing another victim, Charles Huber. The coroner said his knife wounds were accidentally self inflicted.

RELATED: Those Who Remember Lindahl Say He Gave Them The Creeps

Police now say he may have killed at least two other women.

Lindahl was charged with raping Deborah Colliander, who manged to escape from the attack. However, two weeks before Lindahls trial, Colliander disappeared after leaving her job at a hospital.

The case against Lindahl was dropped.Collianders body was found on April 28, 1982in a field on Oswego Township.

Investigators also think Lindahl may have something to do with the disappearance of Deborah McCall, a student at Downers Grove North. She was last seen alive in November 1979. Photos of her were found in one of Lindahls residences.

And there may be other victims in the 1970s and before his death, police said. The new evidence will be used to open additional investigations.

Investigators set up two tip lines: (630) 407-8107 (DuPage States Attorney) and (630) 271-4252 (Lisle police).

The Case Of Pamela Maurers Murder Went Cold For Decades, Then Genetic Sleuthing By Parabon Helped Crack It - CBS Chicago

Do genetic ancestry tests know if you’re Palestinian? A cautionary tale of race and science – ABC News

The personal, the political, and the science of ancestry tests.

Palestinian-American cartoonist and illustrator MargueriteDabaiespat into a test-tube and sent her DNA off to the genetic testing company, 23andMe.

To her surprise the results told her somethingsignificantlydifferent to what she understood about herself and her family.

Then, two years later, 23andMe sent her an update, andthe resultsradicallychanged.

Whats going on? And, with what consequences?Is genomic science way too white?

This is one of your and our favourite Science Friction features from the year for ABC RN's Summer Season.

One of your and our favourite Science Friction programs from 2019 for the RN Summer Season.

GUESTSMargueriteDabaieCartoonist and illustrator, New YorkDr Joanna MountainSenior Director of Research23andMe, USAProfessor SarahTishkoffDavid and LynSilfenUniversity Professor in Genetics and BiologyUniversity of Pennsylvania, USA

FURTHER INFORMATION23andMe doesnt know what makes a PalestinianCartoon by MargueriteDabaie(The Nib, 2019)

23andMes Global Genetics Project

The missing diversity in human genetics studiesGiorgioSirugo, Scott M. Williams, Sarah A.TishkoffCell,177, March212019

Presenter:Natasha Mitchell

Producers:Natasha Mitchell and Jane Lee

Sound engineer:Ariel Gross

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Do genetic ancestry tests know if you're Palestinian? A cautionary tale of race and science - ABC News

No one knew why the kids in 2 Amish families were dying suddenly. Now researchers have some answers – CNN

The autopsies didn't offer any clues. The children's hearts appeared normal. The family had what they referred to as "the curse of sudden death." And medical examiners couldn't figure out why.

After the deaths of the first two children, a medical examiner who conducted the autopsies got in touch with researchers at the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory in 2004. Researchers at the lab had pioneered the concept of molecular autopsy, using genetic testing to understand the cause of death in sudden unexplained cases, and the examiner wanted to see if they could shed light on the mystery affecting the Amish community.

The team suspected that a gene called RYR2 could be the culprit -- mutations of the gene can cause a cardiac arrhythmic disorder that can lead to exercise-fainting spells, seizures or even sudden cardiac death. But when they analyzed the gene to check for mutations, nothing turned up.

The case remained cold for more than a decade. As the years went by, pediatric cardiologists and genetic counselors from other parts of the country reached out to the lab about other Amish families whose children had also died sudden deaths -- all looking for answers about this heartbreaking phenomenon.

"As we started building out the family structure, it became apparent to us that this was most likely a recessive disorder," David Tester, the lead scientist on the case, told CNN. "With more information and more technological advancement in terms of being able to look at genes, we were able to put this puzzle together."

The children likely had a common ancestor

Turns out, it was RYR2 -- the gene the researchers had suspected all along. But there wasn't just one mistake in the gene. More than 300,000 base pairs in the gene had been duplicated.

"We finally figured it out that it was an autosomal recessive condition where both bad duplications came from both parents, and those children were unfortunate to get the double dose," Michael Ackerman, director of the Windland Smith Rice Sudden Death Genomics Laboratory, told CNN.

To develop the duplication that causes sudden death, a child has to inherit a mutated gene from each parent -- the chances of which are 25 percent. That four children in one family inherited the mutation and died sudden deaths is incredibly unfortunate, Ackerman said.

The Amish may be more vulnerable to recessive inherited conditions because they are descended from a small number of ancestors and tend to intermarry, Tester said. The two families studied in the report are seemingly unrelated, but because the children all had the exact same duplication in a gene inherited from both parents, Ackerman said that it's likely that they have a common ancestor.

The discovery can help prevent sudden death

Now that researchers know about this genetic marker, there are steps that medical professionals can take to prevent sudden deaths from occurring in other Amish children, Tester said.

"Having this genetic biomarker, we can now very easily test any individual for the presence of the mutation," he said. "Having that ability can potentially save lives."

Knowing who has the mutation and who doesn't is the first step to preventing tragedies like the ones experienced by the families in the study, Ackerman said. If adults who are carriers for the mutation know that they have it, they can make informed decisions about whether or not they should marry another person who is also a carrier.

There are still challenges ahead. For children who have inherited the mutation and are at risk of sudden death, the only solution to prevent it is an implantable cardioverter defibrillator (ICD), which can be extremely expensive. Ackerman said his team is working on understanding more about what causes the duplication in the gene so that a medication to prevent it can be developed, a treatment that would be much more accessible.

"We're going fast and furious to try to get this figured out for this Amish community," he said.

But for now, Ackerman hopes the discovery will provide some closure to the families who have lost their loved ones.

"We finally have figured out the curse of sudden death for the Amish community and they now have peace of mind as to the reason," he said.

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No one knew why the kids in 2 Amish families were dying suddenly. Now researchers have some answers - CNN

Genetic testing helps in the early detection of breast cancer – Cronkite News

By Ashleigh Stewart, Cronkite News | Wednesday, Jan. 15, 2020

PHOENIX Every two minutes, a woman in the U.S. is diagnosed with breast cancer, according to the National Breast Cancer Foundation, but thanks in large part to early detection, breast cancer death rates have dropped 40% since 1989.

Genetic testing has emerged as an invaluable tool in the early detection of breast cancer, which is hereditary in 10% to 15% of cases. A genetic marker was identified in the 1990s: mutations in BRCA genes 1 and 2, which produce tumor suppressor proteins.

According to the National Breast Cancer Foundation, an estimated 41,760 women died of breast cancer in the U.S. in 2019. The final number has not yet been released.

Many generations and many with the same type of cancer, that should set off an alarm bell in that family, said Dr. Donald Northfelt, oncologist at the Mayo Clinic Breast Clinic in Phoenix.

People inherit BRCA gene mutations from either the mother or father, and those changes are implicated in breast and ovarian cancers. Any cell in the body can be tested for that mutation. Its typically done by taking a blood or saliva sample and sending it to a laboratory for panel testing.

Patients at the Mayo Clinic are referred to a genetics counselor as the first step in obtaining BRCA testing. Northfelt wants patients to be fully informed of the circumstances that may arise from the test result.

HonorHealth, a health care system based in Phoenix, takes a similar approach.

Its going to have implications for your family members because we might still want to test other people that could be at risk for genetic mutation even if you tested negative, said Madison Lafleur, a genetics counselor at HonorHealth.

She said HonorHealth has patient assistance programs and can help cover the cost of the appointment. However, the biggest barrier to accessibility is the lack of genetic counselors and the waiting list that creates.

How will this testing affect family members, and what can we do to hopefully put them at ease? Lafleur asked. If they get a positive result, how can we work with them to get them through the initial shock and make sure they are getting the correct screening that they need?

Genes arent the only risk factor for cancer, the National Cancer Institute said. Changes in lifestyle particularly quitting smoking and eating habits also help to prevent cancer.

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Genetic testing helps in the early detection of breast cancer - Cronkite News

Access And Actionability Are Key For Genetic Testing And Precision Medicine – Forbes

Over the past two decades, the field of medical genomics underwent nothing less than a revolution in terms of both technological advancement and accumulated knowledge. This revolution holds the promise of changing the entire medical practice, and while the industrycontinues to improve genome sequencing technologies and decrease the price of sequencing a genome, other challenges are lurking that hinder the prospects of this revolution and undermine the efforts of wide-scale integration of genomics into mainstream medicine.

To emphasize this point further, even though the technologies to help diagnose patients with rare genetic diseases exist, the rate of underdiagnoses and misdiagnoses is still alarmingly high, and patients who receive diagnoses end up waiting too long for them, sometimes years. These extensive diagnostic journeys directly impact the ability to recruit patients for clinical trials, and thus the ability to develop more treatments for rare diseases. To date, only 5% of more than 7,000 known rare genetic diseases have FDA-approved treatments.

At my company, a leading digital health company, our mission is to end the diagnostic odyssey for undiagnosed pediatric patients with rare diseases. I've seen that the main contributors to this state of affairs are the excruciatingly long wait times for genetics appointments, coupled with the significant workforce shortage of experts in the field.

To reach more than 400 million patients globally (50% of whom are estimated to be young kids) with earlier intervention to improve outcomes and help many of them live relatively healthy and productive lives, the diagnosis must shift from the geneticists clinic to the primary point of care, or at least it must be initiated much earlier by primary care physicians.

Without adopting technological solutions that will support the integration of genomics into mainstream medicine, genomics will never live up to its promise and become a standard of care. In my opinion, realizing that vision will be a balancing act between the affordability for payers, accessibility for providers and actionability for patients, and it will depend on technological solutions combining AI-based phenotyping, as well as connecting front-line providers with human experts in genetics, alongside the most advanced genome sequencing technologies.

High Throughput Genetic Testing

As noted, genome sequencing technologies have made huge strides over the last two decades. The affordability of genomics is now increasingly dependent on the ability to sift through and interpret vast amounts of data produced from a genome, and to determine which data is pertinent for a medical diagnosis and for disease treatment a task fitting for AI.

Indeed, in the last few years, we have witnessed many AI-driven solutions sprouting to address this problem. Some of these solutions are home-grown, in leading laboratories such as Invitae, GeneDx and PerkinElmer Genomics. (Full disclosure: PerkinElmer Genomics uses FDNA's technology in its genetic analysis.) Others are developed as software platforms by vendors such as Sophia Genetics, Fabric Genomics, Congenica and Emedgene.

Harnessing AI to perform data analysis challenges has proven to be very successful and is a direct contributor to the affordability of genetic testing today, as well as the gradually increasing rate of reimbursement by payers. I believe AI will continue to play a key role in driving down prices to the $100 range, which will make genomics extremely affordable, both for health systems and for individuals paying out-of-pocket.

Phenotyping Driven By AI

AIs impact goes far beyond applying machine learning algorithms that sift through genetic variations and proprietary knowledge bases of pathogenicity. As more OMICS technologies stack up with genomics, and more AI modalities like natural language processing and computer vision image analysis are integrated directly into the genome analysis pipeline, we will see an increasing standardization of data across disparate data silos and a closing of the genotype-phenotype gap between the clinic and the lab. This trend will drive genomic data to become more actionable for patients and allow them to make informed decisions about their health.

Much of todays phenotyping is performed by humans and is inherently subject to biases such as age, gender and ethnicity. If we approach this problem with legal and ethical rigor, care and are cautious of patient privacy, and with respect to the providers and their workflow, AI could enhance human skills and capabilities. I think that helping primary care providers collect, structure and analyze phenotypic information of patients with rare diseases is an area worth prioritizing.

Connecting The Expert Community

Finally, technology is more than AI. Technology is also an enabler for fostering connections and interactions between humans. Some tasks in practicing medicine must be left to humans, but even then, technology can assist. An alternative abbreviation of AI (augmented intelligence) is my preferred one. It implies a symbiotic relationship between people and machines, making each other stronger, rather than threatening to replace each other.

Tailoring a solution combining all three components (genomics, AI-based phenotyping and community connection) like the one described above is not an easy task, and it depends on the ability of stakeholders from many disciplines to work together, share data and collaborate on research and development.

To achieve this, a best-of-breed approach should be taken, and not only should data be shared, but a global collaboration between commercial companies, academic research institutions and caregivers should occur. The integrity of the data, ethical and privacy policies, and trust in workflow should be established. This requires an open dialogue between all parties involved, as well as a fast-pace framework to allow developers to move quickly in building these tools.

Certainly, working with different stakeholders with sometimes conflicting interests is challenging, but the one common goal we all have is helping patients, especially kids with rare and undiagnosed genetic diseases.

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Access And Actionability Are Key For Genetic Testing And Precision Medicine - Forbes