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. Altschule’s 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 can’t get their doctors on the phone? What about those who don’t 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 region’s 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, 23andMe’s vice president of research, acknowledged most of the company’s customers are white people of European descent — and it wants to change that.
“We can’t provide information that we don’t 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.