The Danger of Convenience and Information
This article was originally published in our Fall 2021 print issue.
Direct to consumer (DTC) genetic companies, like 23andMe and Ancestry, made the science of genomics accessible to the ordinary consumer as early as 2010. The convenient process involves spitting in a vial and dropping it off in a mailbox to determine what your sequenced DNA says about your ancestry and genetic predispositions. DNA, unlike a social security number or date of birth, is an innate and unique identifier of each individual on this planet. If the DNA of two parties are in the database, they can be linked together by genetic relationship, even if they preferred to remain anonymous or unaware of the connection. Those who were adopted may be curious about their origins, and others may be fascinated with the likeness of their genetic code to a friend or family member’s. The amount of curiosity around these genetic tests has culminated in an ever growing database containing the DNA of 26 million consumers between the top 4 DTC companies (23andMe, Ancestry, MyHeritage, and Gene by Gene) in 2019.
There are some benefits of these genomic databases for human health. For example, individuals who use direct-to-consumer tests may be able to discover if they’re at risk for hereditary diseases like breast cancer. In 2018, the FDA granted authorization to 23andMe to include the three mutations of the BRCA1 and BRCA2 genes in their genetic reports. Mutations in these genes, most often occurring in those of Ashkenazi Jewish descent, indicate a higher risk for breast and ovarian cancer in women and breast and prostate cancer in men. Those who receive a report with a notification of BRCA1 or BRCA2 mutations can decisively seek medical diagnosis and early intervention. The financial cost of these tests is also considerably lower than traditional hospital visits, since a 23andMe testing kit costs around $100. On the other hand, insurance coverage only extends to routine screening mammogram scans over the age of 35 (diagnostic mammograms cost more), and those ineligible for Medicare may need to pay $150 for routine screening and an average of $356 for a diagnostic mammogram.
Additionally, given that the data pool of genetic information already exists, these companies can conduct research on genetic differences in disease response. In the last year, with the database generated by at-home DNA tests taken before the pandemic, 23andMe and AncestryDNA surveyed their past customers to study the impacts of COVID-19. Because the company has such a large database of genomes, they had the unique opportunity to research associations in COVID-19 diagnosis and symptoms between individuals based on genetic and non-genetic (survey responses) factors. AncestryDNA surveyed 500,000 people out of the 16 million who used their test kits, and 23andMe surveyed 600,000 people out of 10 million tested. The goal of the studies was to leverage the large database to inform treatment development, and 23andMe was able to publish a report of their findings in the second half of 2020, which included insights like a correlation between severe respiratory complications and certain gene variants on chromosome three.
On the other hand, the ability to self-monitor one’s health based on an online report without physician supervision, analysis, or human touch may be dangerous. Though the 23andMe test may notify consumers of the three potential mutations in BRCA1 and BRCA2 genes, these are only three out of thousands of BRCA mutations that may lead to breast cancer, and they occur mostly in people of Ashkenazi Jewish heritage. This detail is mentioned in the health report and the terms of service, but not everyone will heed it, much like not everyone will read the terms and conditions of other media sites. General regulation bodies, like the FDA and the National Society of Genetic Counselors, also caution that the analysis is best interpreted in consultation with a clinical physician or genetic counselor.
Marcy Darnovsky, the Executive Director of the Center For Genetics and Society, reasons that “There’s a danger of overemphasizing the role of genes in health, especially in public health. We know that there’s environmental and societal improvements that can be made that will have huge effects on public health, whatever measure you use (maternal mortality, neonatal health). Those kinds of policy and social changes would have far more impact to make the public thrive. Of course, we want people to take some sort of responsibility for their own individual health, but we don’t want to have a model of health that makes everything devolve to the individual–and then to even more narrow, to what their genetic dispositions may be.” At-home genetic tests may serve as too much of a false sense of security, because even though one may not be genetically predisposed to diabetes or Alzheimer’s, one’s lifestyle can still contribute to the onset of such diseases, such as quality of diet, physical activity, or cognitive stimulation. These lifestyle factors can be attributed to socioeconomic factors, such as food scarcity or education quality, which can be improved through public health and policy approaches that divert resources to vulnerable subpopulations.
A detail of these DTC kits that consumers may not know is that one’s submitted genetic material can only say as much as the existing database can relatively provide. Once a genome is sequenced, it is compared to the other genomes that they have sequenced in the past and their resulting phenotypes, and that relativity generates the report detailing an individual’s lineage or other health information. That means that the quality of the report can only be as high as the existing database, especially because there are only slight differences between the genetic code of people from different ethnic backgrounds. 23andMe admitted last year that their company and product is very eurocentric, which is a historically propagated issue within genomic studies. Thus, the DTC test kits don’t equally benefit everyone who purchases and uses them. At the very least, the differences will misidentify an individual’s percentage of a certain race, but in general, the differences lead to a lack of representation, which perpetuates a difference of quality and usefulness of the health report technology to people of color. Standalone health reports, without the reinforcement of a clinical geneticist or provider, could instill a false sense of reassurance among the underrepresented populations with a negative test for a disease-associated gene.
Using this quantification of race, especially with the relativity of its calculation, is dangerous for its perpetuation of the biological basis of race. Companies have acknowledged that humans are 99.5% alike, however their advertisements do a less than satisfactory job enforcing this acknowledgement. Controversial advertisements, such as those connecting a Winter Olympian’s athletic ability and gracefulness to her genetic origins from Scandinavia and Central Asia, rather promote the idea that certain favorable traits can be attributed to racial origin. These advertisements are displays of genetic determinism and scientific racism, which assign superiority to certain races or genetic code, even though scientists have debunked the biological basis of race.
DTC genetic testing kits are consumer goods, but their consumption should involve extra discretion and care, because “you’re not just the consumer, your own data is actually the data that this company is producing,” says Darnovsky. Because regulation is limited, consumers often have little control or knowledge of where their genetic data is going when companies sell to third parties, even if companies state in their terms of service that the data might travel farther than their own database. Increased transparency and communication about their usage of the data would greatly assuage concerns about genetic privacy. To address the underrepresentation of non-European genomes, companies might also work to build rapport with these communities and allocate resources to assist the discipline of genomics with increasing diversity in the data. After all, if 23andMe wants to claim that they “democratize health care for people,” they should ensure that they are inclusive and protective of all people.