By Stephanie Miceli | Nov. 13, 2019
When Sara Altschule took a 23andMe ancestry test, the results confirmed what she already suspected: She is 77 percent Ashkenazi Jewish. However, months later, after opting into add-on health tests, she received life-changing news: She had a BRCA2 gene mutation, which is particularly prevalent among Ashkenazi Jewish women. Altschules BRCA2 mutation meant her lifetime risk of developing breast cancer is about 69 percent; for ovarian cancer, it is about 17 percent.
As at-home genetic tests grow in popularity, some individuals have expressed concern about the complexities of the results. Speaking about her experience with at-home genetic testing at a recent workshop of the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine, Altschule told attendees, The results not only probably saved my life, but may have also saved the lives of people in my family who now know they are also BRCA2 positive. While empowering for her, she also wishes she had received the results from a genetic counselor not via email.
Traditionally, there have been two main types of genetic testing: traditional tests initiated by a doctor, and direct-to-consumer (at-home) tests. Most people do a combination of both, said keynote speaker Robert Nussbaum, chief medical officer of Invitae. About one-third of people who take an at-home test share the results with a provider, who can make appropriate referrals based on the results, he said.
Knowledge Is Power
After seeing a genetic counselor and getting a more comprehensive blood test, Altschule decided to undergo a preventive double mastectomy at the age of 31. I felt powerless during this process, and I wanted to take my power back. This was the easiest and toughest decision of my life, said Altschule.
Panelist Dorothy Pomerantz, who also received news of her BRCA status via 23andMe, said online test results are not a replacement for a one-to-one conversation with a trusted provider. Pomerantz considers herself lucky to have received actionable information, though she still has complicated feelings about how that information was delivered.
This information is complicated and nuanced. We need someone to walk us through the dark, said Pomerantz. When my genetic counselor confirmed my results, she asked me what I needed in that moment. Did I need to vent? Did I want information? Did I need to be alone or cry?
Affordability Is Part of Accessibility
Aside from having access to genetic testing in the first place, Altschule and Pomerantz acknowledged they had the resources to get immediate follow-up testing and surgery.
What about those who cant get their doctors on the phone? What about those who dont have doctors at all? asked Pomerantz.
Without insurance, someone with a risk of cancer may not have those options, said Sadie Hutson, director of the Cancer Genetics Program at Pikeville Medical Center in Kentucky. In the Appalachian communities where she works, coal mining, the dominant industry, has been linked to high incidences of lung cancer. However, many people have to live with the knowledge of that risk and the inability to act on it.
Affordability of genetic testing is a very real problem, said Hutson.
There is also a dire shortage of genetic counselors in the region, she added. Hutson has partnered with mobile clinics and faith-based organizations that provide genetic testing and counseling free of charge, particularly to the regions Medicaid population. Hutson also noted the importance of offering free follow-up testing to family members.
Panelists discussed the accessibility of direct-to-consumer genetic tests for underserved and rural populations and ways to increase engagement, literacy, and reduce disparities.
Steps Toward Including All of Us
We have a skewed evidence base in human genomics research, said Malia Fullerton, professor of bioethics and humanities at the University of Washington School of Medicine. Because certain populations are underrepresented in research, when they do receive genetic testing, there is a lack of data that they can act on. Joyce Tung, 23andMes vice president of research, acknowledged most of the companys customers are white people of European descent and it wants to change that.
We cant provide information that we dont have, she said. A lack of data can halt progress and new discoveries in diseases that primarily affect diverse communities such as sickle cell disease, which is prevalent in people of African descent. Tung highlighted several initiatives at 23andMe that aim to improve diversity, including the African American Sequencing Project, Global Genetics Project, and the Latino Sequencing Project.
In addition, underrepresented populations are more likely to receive uncertain test results, often because their genetic variants have not been well-studied. As a result, they may experience unnecessary testing or lifestyle changes, or false reassurance, and the psychological burden that comes with it, Fullerton said.
To address the lack of diversity in genetic databases, last year, the National Institutes of Health launched its All of Us research initiative. It aims to collect data from 1 million Americans from various population groups.
The vast majority of 23andMe consumers 80 percent agree to share their data in the hopes of contributing to science and new insights about health and disease. However, the current lack of diversity in genetic databases risks hindering the science.
There is a critical opportunity for multiple sectors to come together to ensure proper inclusion of all individuals in genetic and genomic testing, said Hutson.
Integrating Consumer Genomics into Health Care
Speakers throughout the day acknowledged the challenges around integrating consumer genomics data into clinical care. Consumers often want information fast, but health systems may not be able to quickly provide the confirmation genetic testing following a positive DTC result.
This continuum of care has a lot of access points and a lot of people trying to find pathways, but really it is reflective of the overall health system, said Siobhan Dolan, a professor and vice chair for research at Albert Einstein College of Medicine. Maybe genetics has given people an opportunity to find alternative routes and maybe we could continue to learn from that try to put something together that is continuous.
Visit http://nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/2019-OCT-29.aspx to view speaker presentations and other information about the Workshop on Exploring the Current Landscape of Consumer Genomics.
Follow this link:
- How to use precision medicine to personalize COVID-19 treatment according to the patients genes - TheStreet - September 2nd, 2020
- Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility - Science Advances - September 2nd, 2020
- Thought to Be Extinct, New Guinea's Singing Dogs Found Alive in the Wild - Smithsonian Magazine - September 2nd, 2020
- Humans have had mystery DNA for 300,000 yearsand now we might finally know what it is - SYFY WIRE - August 10th, 2020
- The Secret to a Long, Healthy Life Is in the Genes of the Oldest Humans Alive - Singularity Hub - August 10th, 2020
- LogicBio Therapeutics Reports Second Quarter 2020 Financial Results and Provides Business UpdatesFDA Clears IND Application for LB-001 for the... - August 10th, 2020
- Research on Tasmanian devil offers new insights into tackling human cancer - National Science Foundation - August 10th, 2020
- Human Genetics Market 2020 Size by Product Analysis, Application, End-Users, Regional Outlook, Competitive Strategies and Forecast to 2027 - Owned - August 10th, 2020
- University of Texas researchers find mutation that led to 2015-2016 Zika outbreak - Homeland Preparedness News - August 10th, 2020
- Blood lipid levels may be altered in some autistic people - Spectrum - August 10th, 2020
- NIH taps Dr. Lindsey Criswell as director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases - National Institutes of Health - August 10th, 2020
- 'Hyper urban' coyote genomes are growing apart from their city and rural cousins - Massive Science - August 10th, 2020
- Why scientists are worried about a 'Warp Speed' COVID-19 vaccine - New Haven Register - August 10th, 2020
- Gyroscope Announces Appointment of Leaders in Retinal Disease, Gene Therapy and the Complement System to Its Clinical and Scientific Advisory Boards -... - August 10th, 2020
- Noel Rose, Who Demonstrated Autoimmunity Exists, Dies at 92 - The Scientist - August 10th, 2020
- Invasion of the Body Snatchers: Viruses Can Steal Our Genetic Code to Create New Human-Virus Genes - SciTechDaily - August 10th, 2020
- Why Are Only 10% of People Left-Handed? Here's What Scientists Know So Far - ScienceAlert - August 10th, 2020
- Holder pasteurization of donated human milk is effective in inactivating SARS-CoV-2 - CMAJ - August 10th, 2020
- Dinosaur diagnosed with bone cancer that afflicts humans today - CNN - August 10th, 2020
- LogicBio Therapeutics Reports Second Quarter 2020 Financial Results and Provides Business Updates - GlobeNewswire - August 10th, 2020
- The Secret to Healthy Longevity Is in the Genes of the Oldest Humans Alive - Singularity Hub - August 10th, 2020
- BU's COVID-19 Testing Passes Its First Test | BU Today - BU Today - August 10th, 2020
- COVID-19 in Africa: Dampening the storm? - Science - August 10th, 2020
- Pacific Biosciences and Asuragen Collaborate to Develop Assays for Carrier Screening and other Applications Based on SMRT Sequencing Technology and... - August 10th, 2020
- U of T researchers identify molecular switch allowing parasites to survive inside hosts without oxygen - News@UofT - August 9th, 2020
- LUMINEX : MANAGEMENT'S DISCUSSION AND ANALYSIS OF FINANCIAL CONDITION AND RESULTS OF OPERATIONS (form 10-Q) - marketscreener.com - August 8th, 2020
- Gaucher Disease Treatment Market Size, Top Companies, Trends, Growth Factors Details by Regions, Types and Applications - Owned - August 8th, 2020
- How studying genetics and lifestyle can shape a healthier MENA region - The European Sting - August 8th, 2020
- Detection of H1 Swine Influenza A Virus Antibodies in Human Serum Samples by Age Group - CDC - August 7th, 2020
- UW researchers devise approach to treat rare, incurable form of blindness - University of Wisconsin-Madison - August 7th, 2020
- Prevail Therapeutics to Present at 2020 Wedbush PacGrow Healthcare Conference - Stockhouse - August 7th, 2020
- human genetics | Description, Chromosomes, & Inheritance ... - August 6th, 2020
- Human Genetics | Pitt Public Health | University of Pittsburgh - August 6th, 2020
- Triplet Therapeutics To Present at Upcoming Events - Business Wire - August 5th, 2020
- 'Hyper urban' coyote genomes are growing apart their from city and rural cousins - Massive Science - August 5th, 2020
- Baylor genomics teams partner to provide COVID-19 testing for Houston area - Baylor College of Medicine News - August 5th, 2020
- Gaucher Disease Treatment Market (Impact of COVID-19) Top Growing Companies: Acetelion Pharmaceutical (J&J Ltd.), Erad Therapeutic Inc., JCR... - August 5th, 2020
- High-fat Diet and Genetics Lead to Anxiety and Depression in Rats - Newswise - August 5th, 2020
- 'Mono' virus turns on cancer-related genes. Here's how. - Live Science - August 4th, 2020
- Human Challenge Trial Neither Essential Nor Ethically Justified at This Time, Says US Expert Anthony Fauci - Yahoo India News - August 4th, 2020
- ICMR to host global web conference on science, ethics of COVID-19 vaccine starting 4.30 pm today - Firstpost - August 4th, 2020
- Faculty/staff honors: Women in engineering network nod, winning magazine article on geologic hazards and refugees and two national genetics society... - July 31st, 2020
- ENCODE3: Interpreting the human and mouse genomes - Science Codex - July 31st, 2020
- Revealing the intrinsic functioning of human and mouse genomes - Tech Explorist - July 31st, 2020
- Maternal Immune Activation Causes Schizophrenia-like Behaviors in the Offspring through Activation of Immune-Inflammatory, Oxidative and Apoptotic... - July 31st, 2020
- Podcast: The ancient war between genes and disease - Genetic Literacy Project - July 31st, 2020
- Pitt's School of Public Health welcomes students with opera about obstetrician who championed hand-washing - TribLIVE - July 31st, 2020
- BNGO Stock Price: BioNano Genomics Inc. retreats, starts week in the red - FXStreet - July 31st, 2020
- A Genetic Mutation Reveals How the SARS-CoV-2 Virus Strikes - Technology Networks - July 31st, 2020
- 88-Year Old Daniel Smith, Son Of Slave, Tells His Story - Moguldom - July 31st, 2020
- 23andMe Releases Devastating Analysis of Trans-Atlantic Slave Trade - Futurism - July 31st, 2020
- MSU researcher earns grant to study effects of droughts - MSUToday - July 31st, 2020
- Massive Growth in Human Genetics Market Breaking new grounds and touch new level in Upcoming Year by QIAGEN, Agilent Technologies, Thermo Fisher... - July 30th, 2020
- CEO of genome analysis firm: We have the data to prove people will take care of themselves - University of Miami - July 30th, 2020
- Researchers from U of T, Harvard study collective human behaviour amid COVID-19 - News@UofT - July 30th, 2020
- Gene mutations discovered as a trigger for male infertility - BioNews - July 29th, 2020
- Cerevel Therapeutics and Cyclica Announce Research Collaboration to Use Artificial Intelligence to Accelerate Discovery of Novel Medicines in... - July 29th, 2020
- Relatives of coronavirus may have been in bats for decades - Opelika Auburn News - July 29th, 2020
- Link between platelets and Covid-19 virus? - The New Indian Express - July 29th, 2020
- Fortress Biotech Announces Publication of Study on Targeted Next Generation Sequencing for Newborn Screening of Menkes Disease in Molecular Genetics... - July 29th, 2020
- New 23andMe Study Reveals the Genetic Legacy of Slavery in the Americas - Gizmodo - July 29th, 2020
- The Groundbreaking Scientist Who Risked All in Pursuit of His Beliefs - The New York Times - July 29th, 2020
- 23andMe and GSK Head to Clinical Trials With Cancer Drug - MSN Money - July 29th, 2020
- Human Genetics - David Geffen School of Medicine at UCLA - July 29th, 2020
- Discovering how genetic 'dark matter' plays a role in mental illness is just the tip of the iceberg for human health - The Conversation UK - July 29th, 2020
- Prevail Therapeutics Granted Composition of Matter Patent for Experimental Gene Therapy Program PR006 - GlobeNewswire - July 29th, 2020
- The toll of shrinking jaws on human health | Stanford News - Stanford University News - July 28th, 2020
- Global Hereditary Genetic Testing Market (2020 to 2030) - Analysis and Forecast - GlobeNewswire - July 28th, 2020
- Triplet Therapeutics nabs Scholar Rock R&D exec as new CSO - FierceBiotech - July 27th, 2020
- Meet Dr Sarah Gilbert, one of the scientists leading the race to find a coronavirus vaccine - The Indian Express - July 27th, 2020
- Genetic basis of bats superpowers revealed - KLBK | KAMC | EverythingLubbock.com - July 27th, 2020
- Study of Gene's Hormone Effects Leads to Surprise Insight into Pituitary Tumors - University of Michigan Health System News - July 26th, 2020
- Dutch University hospital Radboudumc finds genetic mutation as a reason for lack of defense against corona - Innovation Origins - July 26th, 2020
- Tailoring Depression Treatment With Genetics - Technology Networks - July 26th, 2020
- Genetic puzzle: How mice can be modified to help in the race to develop coronavirus therapies - Genetic Literacy Project - July 26th, 2020
- The genetic basis of bats' superpowers revealed - Newswise - July 26th, 2020
- Inside the Global Quest to Trace the Origins of COVID-19and Predict Where It Will Go Next - TIME - July 26th, 2020
- Baylor Genetics and the City of Houston Form COVID-19 Testing Partnership - PRNewswire - July 25th, 2020
- Triplet Therapeutics Appoints Alan Buckler, Ph.D., as Chief Scientific Officer - Business Wire - July 25th, 2020
- The genetic basis of bats superpowers revealed - YubaNet - July 25th, 2020