Exploring the Current Landscape of Consumer Genomics Proceedings of a Workshop (2020) / Chapter Skim
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1 Introduction and Workshop Overview
1 Introduction and Workshop Overview
Pages 1-8
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Consumer genomics, which includes both DTC applications (i.e., genetic testing accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., testing ordered by a health care provider in response to an informed patient request)
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One of the reasons for using consumer genomics is its personal utility, or the usefulness that an individual derives from knowing his or her genetic information. If consumers are engaged and empowered to learn more about their health information and potential genetic risk factors, there could be opportunities for the health care system to learn effective strategies for engagement with consumers, including engaging populations that may not have adequate access to genetic testing.
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This, Wicklund said, prompted the roundtable to explore how well companies are reaching diverse or underserved populations and if the opportunity exists to work with DTC service providers to decrease inequities and disparities in genomic databases and their applicability to underserved populations. Excluding newborn screening, it is possible that more people have had some form of genomic testing outside of the traditional health care model than within health care, said Greg Feero, a professor in the Department of Community and Family Medicine at the Geisel School of Medicine, a faculty member with the Maine Dartmouth Family Medical Residency Program, an associate editor for JAMA, and the workshop planning committee co-chair.
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Over the course of the workshop, Ginsburg said, "we are going to have an opportunity to look at the landscape of this continually evolving field and think about the implications for research, for clinical care, for reaching and giving access to the underserved and underrepresented communities." In addition, the workshop focused on health-related information coming from DTC testing, rather than ancestry insights, and considered the seminal question of how to integrate data from consumer genomics tests into health care. SETTING THE STAGE: THE EVOLUTION OF DIRECT-TO-CONSUMER GENETIC TESTING DTC genetic testing encompasses four major areas, explained Robert Nussbaum, the chief medical officer at Invitae and the opening keynote speaker at the workshop: ancestry; personal traits; multifactorial genetic risk scores for diseases such as type 2 diabetes, rheumatoid arthritis, and Crohn's disease; and testing for Mendelian disorders such as cardio myopathy and hereditary breast and ovarian cancer.
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If someone is having DTC testing done for a different reason, such as ancestry, adding a medically relevant test in that setting can identify some healthy people who are not aware they have a potentially deleterious mutation, Nussbaum said. In another unpublished study of more than 270,000 patients referred by health care providers for gene testing based on personal or family history of cancer, Nussbaum and his colleagues found that when they stratified the data by self-reported ethnicity, the test for one particular gene associated with a higher incidence of colorectal cancer, MUTYH, was 100 percent incomplete for Asians, which means, he said, the existing allele-specific DTC test for MUTYH mutations is not designed to test for any of the cancer-associated MUTYH variants found in Asians.
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Con umers s do have "paradoxical concerns" regarding genomic risk screening by this hybrid model, Nussbaum said, which makes it different from the pure DTC model. For example, respondents raised privacy concerns related to physician involvement and about the resulting clinical grade assigned to the results, which for many comes with a heightened sense that getting the test is a serious action.
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"There is obviously a thirst for this information, yet people are not quite sure how best to get it," he said. "You would think they would be more reliant on their own physicians for it, and yet, I think there is some concern." In his experience, he said, consumers have a wide range of opinions and attitudes about genomic testing, so this should be taken into account when discussing what the "consumer" wants from or thinks about DTC testing.
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