By Emily Qian, Magalie Leduc, and Birgit Funke
Consumer driven genetic testing has rapidly expanded, to the point where some genetic testing companies have reached 10 million customers. These tests are being advertised in commercials and in ads on social media. Genetic testing can reveal a variety of information ranging from ancestry to predisposition for disease. While ancestry, fitness regimens, and food preferences may seem all fun and games, the potential of learning about a predisposition for a serious disease should not be treated lightly.
While a DNA-based ancestry report may not require scientific expertise to understand the results, the genetics of human disease are highly complex. Thus specialized training is necessary to accurately interpret genetic information in this context. However, with the development of specialized medicine, the growing variety of health care providers, and the growing number of available un-credentialed educational courses online and degrees in various scientific areas, it is difficult for consumers to determine who may be the best provider with the right credentials to help them understand their genetic results.
We are in new territory, as a laboratory straddling the boundary between medical genetics and the “recreational genetics” realm attempting to bridge this gap. We designed a consumer-initiated, physician approved genetic test that offers insight into disease predispositions, findings that could impact family planning, and pharmacogenetic profiling as well as findings that are not expected to impact health – such as ancestry and physical characteristics. This whole genome sequencing (WGS) test is intended to be used as a preventive health screen for individuals who wanted to be more proactive about their health. Obtaining informed consent for testing is required by law and includes a review of the purpose and limitations of the test.
Our process requires the consumer to initiate the order online and then enter a dialog with a physician of their choice to approve the order. The consumer digitally signs an informed consent when the order is initiated and an implicit assumption is that this dialog would lead to a discussion of the test. After providing post-test genetic counseling for several customers and providing clinical support for providers, it is clear that the consumer-physician dialog was not proceeding as expected. Several consumers had pursued testing for reasons outside of the test purpose, such as searching for a genetic etiology for manifesting symptoms or family history of disease. While certain genetic tests on the market are designed to perform such functions, the test we designed is not intended for those purposes. When pursuing diagnostic genetic testing for family history of disease, it is best to test the relative with symptoms first rather than a healthy relative, which is typically disclosed by a healthcare provider before ordering a test.
To understand possible root causes, we investigated our first 500 test orders and analyzed provider credentials, medical specialties, and potential familial relation to the consumer. We found that providers had a range of specialties, from pulmonology to anesthesiology. Furthermore, we also found providers without MD or DO degrees, such as chiropractors (DC), naturopaths (ND), and podiatrists (DPM). The majority of test orders were from internal and family medicine physicians, with only a very small percentage of orders being from trained genetic professionals. This raises the question of how to equip consumers to be able to identify providers suited for interpreting genetic test results? Discussions with consumers had revealed that many were unaware of the availability of genetic counselors and medical geneticists.
The CGC (American Board of Genetic Counseling (ABGC)- certified genetic counselor) and FACMG (Fellow of the American Board of Medical Genetics and Genomics (ABMGG)) letters signify that someone has completed graduate-degree training in human genetics. However, with only ~5000 individuals who hold CGC titles and ~3000 who hold FACMG titles, it is not surprising that consumers are generally unaware of these healthcare professionals. Not to mention that a recent study in Genetics in Medicine found that a majority of genetics clinics in the US have waitlists of over a month. Media working groups for the ABGC and ABMGG (and other professional societies) have sought to increase visibility and awareness, but remains unclear how we can maximize accessibility of genetics-literate providers to reach the masses.
Another finding was that a significant percentage of tests were signed off by providers with the same last name as the consumer. The American Medical Association (AMA) advises against treatment of oneself or a family member as it can impact “professional objectivity, patient autonomy, and informed consent”.
This is even more the case when the test results may reveal information about the ordering provider themselves. First-degree relatives share 50 percent of DNA on average, therefore if a first-degree relative were to sign off on a test, they would have a 50 percent chance of carrying any of the findings identified. Obtaining informed consent in an unbiased manner and remaining objective when discussing and returning results would be difficult in such situations. It is unclear whether these potential conflicts were considered at the time of order.
Although other explanations exist, it seems likely that healthy consumers do not have easy access to trained genetics professionals and therefore resort to family members when available to be able to order genetic testing. Another possibility is that consumers feel more at ease asking a relative to sign off on a genetic test, such as data privacy considerations. This remains to be explored in the medical community.
This data has certainly raised some questions. How do we educate the public so they may make an informed decision when choosing a provider? Can we ensure that providers are practicing ethically? And how do we improve access to trained genetic healthcare providers? Ultimately, further studies are needed to understand test ordering behaviors of consumers and providers in the realm of consumer-initiated genetic testing.
Emily Qian, MS, CGC is an American Board of Genetic Counseling certified genetic counselor at Veritas Genetics. She graduated from the University of California-Irvine Masters in Genetic Counseling program in the class of 2016.
Magalie Leduc, PhD, FACMG is an Associate Laboratory Director at Veritas Genetics. She is a board-certified molecular geneticist and previously served as an Assistant Laboratory Director at Baylor Genetics where she was involved with diagnostic whole exome sequencing and the eMERGE (electronic Medical Records and Genomics) Network.
Birgit Funke, PhD, FACMG is Vice President of Clinical Affairs at Veritas Genetics and part time Associate Professor of Pathology at Harvard Medical School. She also is co-chairing the cardiovascular domain working group of the Clinical Genome Resource (ClinGen) whose mission is to harmonize and centralize knowledge resources for genomic medicine. She previously served as the director of Clinical Research and Development at the Laboratory for Molecular Medicine (LMM) and was among the first worldwide to implement clinical next generation sequencing (NGS).
This post is part of a digital symposium hosted by Bill of Health in conjunction with the Petrie-Flom Center’s 2019 Annual Conference, “Consuming Genetics: Ethical and Legal Considerations of New Technologies.”