Exploring the Current Landscape of Consumer Genomics Proceedings of a Workshop (2020) / Chapter Skim
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3 Exploring the Role of Diversity and Health Disparities in Consumer Genomics
3 Exploring the Role of Diversity and Health Disparities in Consumer Genomics
Pages 19-32
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From page 19... ...
• DTC genomic testing services could offer a way for under represented populations to benefit from the fruits of genomic medicine, but doing so will depend on having adequate datasets, effective communication, and access to downstream services. (Fullerton)
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From page 20... ...
Malia Fullerton, a professor of bioethics and humanities at the University of Washington School of Medicine, addressed the skewed evidence base for consumer genomics and how this may affect underrepresented populations. The implications of genetic ancestry testing for diverse populations and the communication challenges around health risks was discussed by Shawneequa Callier, an associate professor of clinical research and leadership at The George Washington University School of Medicine and Health Sciences and a special volunteer with the Center for Research on Genomics and Global Health at the National Human Genome Research Institute.
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From page 21... ...
While there is a fairly substantial cohort of Latinos, African Americans, and East and South Asians among the company's customers, Tung said that this group is smaller than would be expected based on U.S. demographics.
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From page 22... ...
Data from the African American sequencing study are now available through the National Institutes of Health's database of Genotypes and Phenotypes,4 Tung said, and 23andMe welcomes academic collaborations.5 23andMe is also currently in talks to develop a partnership to create a large, non-European reference panel, Tung said. Finally, the company is exploring novel methods for developing polygenic risk scores so that the data they do have can be better leveraged, both within and across populations, to develop better scores for non-Europeans.
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From page 23... ...
However, she said, even if differences in awareness, education, marketing, and access were addressed in the near term, there would still be disparities in the clinical utility of DTC genomic tests. The reason, she added, is that the genomic research evidence base is markedly skewed toward individuals of northern and western European ancestry (Popejoy and Fullerton, 2016)
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From page 24... ...
The ability to obtain one's complete raw genotype data file as a direct download could, in theory, allow consumers to take their DTC genomic test results to a third-party interpretation service in an effort to identify additional information that was not available in the initial DTC genetic testing encounter, she said. The problem, she said, is that nearly all of these third-party interpretation tools draw on the same skewed genomics reference evidence base.
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From page 25... ...
"Furthermore, the validity of these tests has come into question, which could impede trust in the technologies and possibly spill over into the clinical genetics testing realm." For example, in 2019 investigators at Consumers' Checkbook sent DNA samples to three different DTC genomic testing companies, and the ancestry results for one African American staffer varied widely, ranging from 18 percent West African and 33 percent Central
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From page 26... ...
In closing, she asked, Are there missed opportunities for developing clear and concise language related to race, ethnicity, and ancestry and opportunities for building trust related to genetic and genomic testing services? RURAL AND UNDERSERVED POPULATIONS AND ENGAGEMENT WITH GENOMICS SERVICES "As more companies enter the direct-to-consumer retail market for genomics, the increase in numbers of genotyped consumers will allow for an exponential increase in innovation," Sadie Hutson said, "but this is
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From page 27... ...
Other barriers that the participants reported included their concerns that knowledge about disease risk would not actually translate into action to prevent disease occurrence and that they mistrusted or had low confidence in their health care providers' knowledge about genetics and genomics. Hutson said that the factors affecting the uptake of consumer genomics services that she sees regularly in her practice include a lack of awareness of DTC genomics testing (Salloum et al., 2018; Sussner et al., 2009; adaparampil et al., 2006)
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From page 28... ...
services o Awareness of DTC is lower among rural residents and racial and ethnic minorities o Awareness of genetic testing can vary by acculturation and by racial and ethnic identity • Lack of awareness of genetic counseling • Lack of access to genetic counseling • Cost • Privacy concerns • Differences in discussions about genetic testing by health care providers • Sociodemographic factors • Family communication • Fear of discrimination • Barriers can change over time treatment. A 2012 literature review found that a majority of consumers preferred receiving guidance from a health care provider regarding the use of DTC genomic tests (Goldsmith et al., 2012)
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From page 29... ...
There are, however, opportunities to expand the reach of all types of genetic testing into underserved populations. In her own practice at the Pikeville Medical Center, Hutson said, she developed a cancer genetics program in which two genetics nurse navigators help patients complete family and personal health history information during a routine visit with the oncologist or over the phone.
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From page 30... ...
Consumer genomics disintermediates the health care provider from the process of obtaining personal genetic information, but this approach may have broader implications related to medical management as well as psychosocial consequences for patients who decide to undergo DTC genetic testing, she said. There is a critical opportunity for multiple sectors to work together to ensure the proper inclusion of all individuals in genomic testing, she added.
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From page 31... ...
Fullerton said that in her study of customers of consumer genetic testing who had downloaded their raw data, that many of those individuals were initially interested in their ancestry, but subsequently became aware of the ability to use third-party interpretation services to learn about healthrelated information. This crosswalk between ancestry and health information also existed in the opposite direction, she noted, with individuals who sought consumer genetics testing initially for health information later wanting to know more about their ancestry.
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From page 32... ...
There could also be opportunities for DTC genomics companies to partner with individuals and groups who are interested in education within their communities, Callier said, but this should not be a top-down effort. Those living in rural communities, Hutson said, need a great deal of help in terms of education about genetics and genomics.
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