Genetics, DTC, and Their Social Implications: Reviews
Genetic technologies and the interplay between public desire, commercial interests, and regulatory powers
2023 Volume 131 Issue 1 Pages 27-31
Details
2023 Volume 131 Issue 1 Pages 27-31
Applications with genetic technologies are now present in numerous health science contexts. This review article summarizes the implementation of these applications from a critical social perspective, examining how public uptake creates complex social issues and regulatory challenges. Focused primarily on English-speaking North America (Canada and the United States), this review summarizes some recent public perception research on YouTube and Reddit on the topics of DNA ancestry testing and non-invasive prenatal testing/screening. More broadly, it highlights how public use, social media, commercial marketing discourse, and regulatory bodies convene around genetic technologies and the tensions and challenges that ensue.
Genetic technologies are no longer speculative possibilities looming on the horizon. Applications are here, sought after, and used by persons and families, corporate entities, and government institutions. Canada and the United States are among world nations now approving gene therapies, offering potentially life-altering treatments for rare conditions (Bulaklak and Gersbach, 2020; Council of Canadian Academies, 2020; US Food and Drug Administration, 2022a). Non-invasive prenatal testing/screening (NIPT/NIPS), which analyses placental DNA to help determine genetic markers for trisomies 13, 18, and 21 is available and increasingly used in healthcare systems worldwide (Gadsbøll et al., 2020). At-home DNA kits from companies such as 23andme and Ancestry are readily available for consumers, providing genetic insights into socioethnic make-up, family history, as well as indicators of health conditions.
And yet questions and issues persist around these genetic technologies. Novel gene therapies are costly to public health systems and require careful budgetary analysis, especially as it will take years to demonstrate effectiveness from clinical evidence (Council of Canadian Academies, 2020; US Food and Drug Administration, 2022a). Increased use of NIPT can generate anxieties around the increased medicalization of pregnancy (Topçu and Brown, 2019) and can negatively impact disability rights, in particular the stigma associated with people living with disabilities (Kellogg et al., 2014; Zhang, 2020). A swarm of issues accompanies at-home DNA testing, including, for example, the lack of practical health value that results provide, and ownership, consent, and use concerns accompanying the corporate possession of enormous genetic data sets (Office of the Privacy Commission of Canada, 2017; Molla, 2019).
Social media and its role on public perceptionsOne key driver of emerging genetic technologies is public desire, where research is increasingly focused on the role social media plays in shaping perspectives. Social media plays an impactful role in how the public learns about, discusses, shares experiences, and argues about perspectives around genetic technologies. Accurately mapping the social media influence, however, remains a significant and ongoing challenge. In recent years, our research team at the University of Alberta’s Health Law Institute completed two research projects exploring how the public was using Reddit in the context of NIPT and YouTube in the context of DNA ancestry testing. We observed complex—and often highly personal—information exchanges around these technologies.
Our research examining NIPT discussions on Reddit (Marcon et al., 2021c) saw collaborative and supportive discussions in which participants expressed the desire to use NIPT and an eagerness to make sense of what the technique could offer. Sentiments and arguments showed a craving for access. People were alarmed, appalled, and even irate that their private insurance providers might not cover their testing. Others were seriously concerned about limited access from public health coverage. However, participants also expressed concerns around screening accuracy, how it was being implemented in healthcare systems, and anxiety around interpreting results. Here, we interestingly saw a wide range of interpretations around what constituted a positive result (Marcon and Ravitsky, 2022) thus complicating the task of establishing regulatory standards and guidelines. We also observed cases where anecdotes by certain individuals, some of which were repeated often and in numerous threads, received considerable attention from others. We speculated that these narratives were influencing perceptions on safety and accuracy despite the fact they might not be accurate.
Similar to what we observed on Reddit, our research examining YouTube DNA ancestry test result videos from the two largest companies, 23andme and Ancestry, exhibited the public’s desire to access the technology and to interpret its findings with broader audiences (Marcon et al., 2021b). Given the commentary on how DNA testing might reify scientifically inaccurate conceptions of race (Phelan et al., 2014), our research examined how people on YouTube (YouTubers) might be using the technology to (re)conceptualize personal perceptions around ‘racial/ethnic’ identities. Our study observed YouTubers who were excited, nervous, and giddy to reveal their results. They were keen to learn more about their genetic selves. Some DNA results shocked YouTubers, causing them to reconsider previous perceptions—for example, a few had considered themselves to have Indigenous roots only to discover no such genetic link. Some of the Youtubers shared details of how results would inform future life choices such as visiting new countries or discussing shared genealogy with other family members.
We summarized that YouTubers seemed to lack knowledge on the tests’ limitations and the science of genetics, and we observed how seldom the video creators offered critiques. In contrast, the YouTubers typically acted like marketing agents, repeating company selling points, and encouraging others to test for themselves. Fascinating ongoing research, including a recently completed randomized control trial, has continued to explore the degree to which DNA ancestry testing increases notions of racial essentialism (Roth et al., 2020, 2022). Perhaps unsurprisingly, racial essentialism appears to have greater influence over those with less understanding of genetics (Roth et al., 2020). It makes the lack of critical perspectives on YouTube even more disquieting.
Commercial marketing and consumer activityA common marketing strategy of DNA ancestry testing is that of discovery. “Discover people who share your DNA,” it reads on the 23andme website, “from close family members to distant ones, you’ll be amazed by the way your DNA relatives connect you to the world” (23andme, 2022). The goal here is obviously to entice consumers to discover potential ancestral links to admirable figures such as Nikola Tesla, Oprah Winfrey, or Nelson Mandala, as opposed to, say, Benito Mussolini, Elizabeth Bathory, or Jeffery Dahmer. The tests are sold as a way of heightening one’s prominence, guaranteed to be demonstrated in, at the very least, a detailed and expansive genealogical network. A further selling point is how testing services enable you to “message relatives directly to better understand your family connection” (23andme, 2022). And yet, as investigative journalism has shown, not all familial discovery is joyous. A family’s history can contain unpleasant and unshared truths (Moore, 2021). One’s act of individual discovery, therefore, implicates others—including those who may ardently desire no such involvement.
Another illustrative example is how genetic databases accrued through consumer ancestry testing can be used as crime-solving tools. Solving crimes, especially ‘cold cases’ might seem like an overwhelmingly positive development, but there are implications for families and for privacy (Kroll-Zaidi, 2021; Lowrie, 2022), and issues of racial disparities percolate (Sterne and Zhang, 2021). Some have argued, however, that the privacy concerns in this practice may be overstated (Guerrini et al., 2021), once again highlighting how inaccuracies in public knowledge can skew public perceptions.
Although in a different genetics-based context, the phenomenon of individual consumer interactions having widespread social implications also applies to NIPT. In Denmark, NIPT is available to all pregnant persons. The screening opportunities are increasing individual autonomy, but cumulative individual actions—namely terminating pregnancies after positive results—are having widespread social repercussions (Zhang, 2020). As highlighted by Atlantic author Sarah Zhang (2020), fewer and fewer children with Down syndrome being born in Denmark results in fewer of the essential services and community settings that offer support. And what does it mean for an adult with Down syndrome to learn of NIPT and how one’s society is collectively embracing its use? Where does the line for testing end? That is, how much genetic information will people want to know during pregnancies or how will this information impact decisions?
Zhang (2020) observes the expansion of genetic testing practices to in vitro fertilization (IVF). In countries around the world, companies such as Genomic Prediction, MyOme, or Orchid offer genetic testing on embryos preimplantation where patients are offered the chance to separate the perceived best from the rest (Nature, 2022; Pells, 2022). It has been argued, however, that the science supporting these tests is far from conclusive and that prospective patients are not sufficiently aware of the associated uncertainties and risks (Nature, 2022; Pells, 2022). Families might end up making crucial decisions based on inconclusive or unsound evidence. Genomic Prediction cofounder Stephen Hsu has claimed precise benefits from the service such as 46% lower risk of heart attack or a 34% lower risk of schizophrenia, claiming that the company “can easily find people who are 10 times below normal risk” (Pells, 2022). A recent editorial by the journal Nature, however, expressed a high level of concern around the practice, stating that “prospective parents seeking IVF should not be offered polygenic risk scores for diseases unless they are part of rigorous clinical trials” and that “professional societies including genetic counsellors, should publish guidelines on how to counsel participants in such trials to avoid giving them false hopes or fears” (Nature, 2022).
Tensions between marketing and scientific accuracy are palpable. From egg freezing (Gürtin and Tiemann, 2021), to cord blood storage (Marcon et al., 2021a), to vaccine alternatives (Caulfield et al., 2017), to stem cell therapies (Murdoch et al., 2018), to nutrigenomics (Jarry, 2022), research on company websites has shown how companies amplify unproven benefits and obscure, omit, or downplay uncertainties. A recent New York Times (NYT) investigative report into NIPT testing revealed that the testing results for rarer conditions, excluding for trisomies 13, 18, and 21, can be highly unreliable (Kliff and Bhatia, 2022), a point that companies’ marketing typically fails to transparently disclose. Critiques of the NYT piece stressed how the reporting failed to accurately distinguish between screening and diagnosing, with NIPT (or NIPS) only able to screen, and as such, not diagnose. While true, this critique does not sufficiently consider public knowledge, and whether individuals correctly understand these tests’ abilities and limitations. While our Reddit research did observe discussions highlighting and explaining the discrepancy between screening and diagnosing, questions remain as to whether a desire for data trumps the examination of accuracy.
Regulatory responses and responsibilitiesThe US Food and Drug Administration (FDA) published a document shortly after the NYT article titled, “FDA Warns of Risks Associated with Non-invasive Prenatal Screening Tests: Inappropriate Interpretation May Lead to Improper Medical Decisions.” In addressing the associated NIPT risks, the article explicitly details the test’s ability to screen but not diagnose, also noting that some “tests have not been reviewed by the FDA and may be making claims about their performance and use that are not based on sound science” (US Food and Drug Administration, 2022b). When taking aim at some NIPT companies’ marketing strategies, the article stresses potential reliability issues and concludes by stating that “pregnant people have ended pregnancies based on the results of genetic prenatal screening alone, without understanding the limitations of the screening tests and that the fetus may not have the genetic abnormality identified by the screening test” (US Food and Drug Administration, 2022b). Days following the FDA’s statement’s release, the American College of Obstetricians and Gynecologists (ACOG) echoed the FDA’s stance, stressing the “critical” need for patients to understand screening tests’ limitations and advising that critical clinical decisions should not be made on the “sole basis” of a test’s results. The ACOG stressed the need for patient consultation with medical professionals, including genetic counsellors, noting that “counseling should be performed in a clear, objective, and nondirective fashion, allowing patients sufficient time to understand and make informed decisions regarding testing” (American College of Obstetricians and Gynecologists, 2022).
Nothing so direct, in particular with concerns around testing accuracy and aggressive marketing, can be found on Health Canada’s website, or on provincial government websites. On MyHealth Alberta, for example, it reads that genetic screening tests only show the “chance” of a “certain genetic condition” and “can’t tell for sure that your baby has a problem” (MyHealth Alberta, 2021). Similar messaging around determining probability but not diagnosing can be found in online information packages from the Government of Québec (2020). The Prenatal Screening Ontario website similarly notes that NIPT “is a very good screen, although it is not diagnostic.” Further down the webpage, it discusses testing for “microdeletion syndromes”—the primary focus of the NYT article—and notes that “NIPT results may not be as accurate for these conditions,” and that “current guidelines do not support the use of NIPT to screen for microdeletion syndromes” (Prenatal Screening Ontario, 2022).
The healthcare systems differ significantly between the United States and Canada, and it is possible that NIPT access and test offerings are more restrictive in Canada. The Canadian provinces and territories, responsible for administering health for nearly all provincial residents, might perceive their respective jurisdiction to have already sufficient regulatory control over testing pathways and therefore might not view their respective webpages as the sole or most effective manner at educating and guiding patients. That said, the websites could still serve as potentially valuable public outreach tools, especially as the public are likely learning about NIPT through national and international sources. The necessity of online guidance might also be heightened given the expressed need for and reliance upon genetic counsellors to help the public navigate these genetic testing spaces (Government of Canada, 2013; Milne and Buchanan, 2018; Molteni, 2018). Indeed, genetic counselling is a growing profession in Canada, which is also generating regulatory challenges, for example legal recognition, which has implications for healthcare systems and the public alike (Lambert et al., 2022).
Public demand is an unruly force. Technology pushes and regulation plays catch-up. With the case of 23andme in the United States, the FDA has managed to play an impactful regulatory role, effectively shutting down the company in 2013 with demands of evidence to substantiate test results (Hayden, 2017). Telling, however, was the initial response of 23andme CEO, Anne Wojcicki, to regulatory involvement, who alarmingly did not think regulatory bodies would take issue with consumers obtaining genetic information related to their health (Hayden, 2017). In short, regulation was an afterthought, at best. In Canada, the degree to which genetic testing is stressing the healthcare systems remains somewhat opaque, but it requires careful monitoring. Indeed, Canadian authorities are aware of the issues and risks present in at-home genetic testing (Office of the Privacy Commission of Canada, 2017). Are patients pressuring doctors for NIPT access that looks at an increasing number of genetic markers? Are there any signs of burgeoning medical tourism associated with genetic testing as there have been with stem cell therapies (Master et al., 2014)? Are 23andme results influencing lifestyle choices, health decisions, and even claims of cultural identity? A host of health regulatory bodies in Canada exist, such as Health Canada, the Competition Bureau, and Provincial Colleges of Physicians and Surgeons, but these bodies are arguably not doing enough to protect consumers not only from access but from the misinformation and misconceptions rife online (Caulfield, 2016; Caulfield et al., 2017; Murdoch et al., 2018; Caulfield and Murdoch, 2019; McPhail and Benedetti, 2019; Institute for Strategic Dialogue, 2020; Zarzour, 2021).
The hoards of data collected from genetic testing are undoubtedly going to have to be addressed by Canadian regulatory authorities. Regulatory actors will also play impactful roles in enabling and restricting access to potentially harmful testing unsupported by science. However, the degree with which governmental organizations can and will tackle the transmission of health (mis)information is also important (Funke and Flamini, 2018). Facing social and government pressure, media companies have been taking increasingly active roles in restricting accounts responsible for spreading harmful discourse (Institute for Strategic Dialogue, 2020; Frenkel, 2022). Regulating online content is an incredible challenge, however, evident in the fervent calls of censorship when governments act. It also remains to be seen whether banning users and deleting discourse is actually effective.
Government roles in public engagementIncreasingly, public organizations are engaging social media, correcting falsehoods, and sharing accurate information, and doing so armed with a growing body of evidence of what might actually work (National Academies of Sciences, Engineering, and Medicine, 2022). Given the nature of how publics interact with novel technologies, however, perceptions are only partially informed by clearly conveyed, well-articulated facts. Cognitive patterns, personal networks, social influence, media ecosystems, scientific literacy, trust, and ultimately values, play essential roles. An opinion might be that governments, at any level, should not be in the business of shaping values. But if it is values that drive desire, and it is desire that drives technological uptake, government-directed public engagement online that does not diligently consider and incorporate public values will likely generate only negligible impact. Some might argue that governments should not bother with these spaces, leaving that work instead for individual citizens with online influence. Perhaps the well-funded and sexy marketing of commercial genetic technologies simply offers too much allure in too much media that is simply too hard to contest. Only a steadfast pessimist would take this stance, but they might not be wrong.
Public institutions might have to focus efforts where they are most likely to have influence. Education for young children could focus on addressing public health issues (e.g. Stix, 2022). School curriculum at all levels could include critical media skill development and content choices which accurately align with changing technological landscapes. And of course, increasing scientific literacy for all members of the public, at all ages, wherever possible will be highly important—both on the internet and off it. Governments can continue to hold media companies accountable for the information circulating on their networks but can also work with the companies to instil platform features that encourage cognitive reflection and awareness (e.g. warnings or prompts), which ultimately lead to better information discernment (Pennycook et al., 2021). Novel technologies necessarily pique interest and generate desire. It is no different with genetic technologies. The task is to temper that desire with accurate expectations.
