On an April morning in 2003, Francis Collins, head of the National Institutes of Health (NIH), announced that, thanks to new powerful computers and software, the human genome—the recipe for creating a human—had been decoded. It was a monumental decade-long effort that pitted two teams against each other in a race to read out the instructions contained in the special molecule that defines life: DNA.
Genes, of course, are only part of the story. The environment you live in will also determine many things about your life, such as how healthy you’ll be and how long you might live. Scientists believe genes can create a predisposition to certain diseases but that the essential trigger is often something in one’s environment. Some genes determine our fate regardless of environment such as eye color, or hair color, or pain tolerance. Let’s take a look at four stories about people and their DNA from a CHM Live event on January 17, 2021, that featured clips from the new NOVA documentary Secrets In Our DNA and a lively panel discussion moderated by Talithia Williams.
In this story, two strangers come to know that they are related via Direct-To-Consumer (DTC) genetic testing. June Smith and Joan Moser discover they are half-sisters while in their late 50s. “Finding my sister gave me a sense of belonging,” June notes. The reunion of people over the decades can be a very emotional experience for all concerned, filling in gaps in people’s understanding of their own history and past and finally providing understanding to often half-remembered glimpses of an earlier family. It may even ease the anguish once experienced when learning that one is adopted.
Panelist Professor Fatimah Jackson, from Howard University, suggested that DTC genetic testing could potentially, “heal some of the psychic wounds of slavery,” as well and that Zoom meetings with long-lost ancestors discovered through DTC can, in a way, “overcome 400 years of separation.” Avowed skeptic NYU Professor Erin Murphy pointed out that not all such revelations from DTC might be positive. Finding out you’re related to a serial killer, for example, would probably not make you feel better about yourself or your family.
Panelist Robert Green, Harvard MD, noted that until DTC testing, “genetics used to be a tiny little club concerned with rare diseases,” and that now the “killer app” in genetics is ancestry research, whereby people often submit their DNA (saliva) as part of their genealogical efforts to possibly uncover unknown relatives. In this simple act of sharing one’s DNA however, can lie a universe of complex personal and philosophical questions. Let’s look at some of them in the following stories.
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In this second story, college students take part in a DTC exercise as part of a class on exploring diversity. The instructor conceives of the DTC approach as a way to explore diversity “in a way that has not made people defensive.” Yet all is not so easy. As we saw in Story 1, one must be prepared for unexpected and sometimes painful revelations. The discovery by a person of color, for example, that they have white ancestry, brings forward the real possibility of rape somewhere in their family history.
Furthermore, Dr. Green notes that the DTC genomic databases are extremely Eurocentric—that is to say that the genetic samples (and resulting DNA) in these large databases come nearly exclusively from Caucasian subjects. This not only creates a problem when tracing one’s roots in a genealogical context, which is an inconvenience in most cases, but the more serious problem of such distortions reducing the possibility of finding cures for diseases that primarily affect people of color (sickle cell anemia, for example). One observer, Jacqueline Cunningham, refers to this effect as "genomic apartheid."
There are also valid historical reasons behind people of color not trusting in science, as the horror show of the Tuskegee Experiments reminds us. This four-decade long experiment involved deliberately infecting men of color with syphilis and observing them, never offering treatment or admitting to what they had done in the “name of Science.” It will take generations to overcome such tragedies and the resulting psychological wariness of communities of color in interacting with medical authorities. Their concerns are everyone’s concerns: How will this data be used? Do I have any control over that?
While Professor Jackson notes that, “the more you dig, the more you find the absurdity of race as a biological concept,” race is a very real social concept with real-world effects. Erin Murphy fears that the DNA mindset, as exemplified in the NIH All of Us initiative, might lead to an entrenchment of identity that could actually conflict with racial reconciliation. As with so many technologies, there is both promise and peril.
In this story, we come to understand the role of environment as a factor behind many common diseases, like cancer. The discovery of a breast cancer genotype BRCA (and others) led to more tailored approaches to treatment. Such "personalized medicine" is really the main goal behind the human genome project: by understanding a person’s genetic makeup, the types of diseases they are likely to encounter can be anticipated and appropriate treatments or strategies applied. But even with a “bad” genotype, DNA is not necessarily destiny. Luck also plays a role, as do the genotypes of closely related family members. That’s why you are often asked at the doctor if there is a “history of X” in your family. Besides luck, racial variables come into play. As Fatimah Jackson notes, in practice, some of the tests are useless because they are not testing for the right genetic markers in people of color.
Although 23andMe’s Jacquie Haggarty disagrees, interpreting genetic tests can be a problem for DTC consumers. In contrast to a medically indicated genetic test—say for Huntington’s or Tay-Sachs Disease—DTC tests are in some sense mostly for non-medical or entertainment purposes. Professor Murphy makes this point obliquely by noting that most people’s understanding of probability is notoriously poor, which poses a dilemma for patients in the event of a “worrisome” DTC result. Without a physician or other expert consultation, how are consumers expected to put such results in context? If DTC reveals that I have predisposition to heart attack, for example, what steps should I take to avoid it? You probably won’t find the answer on a DTC website.
At 23andMe, one of the major DTC companies, representative Jacquie Haggarty noted that 80% of the company’s 11 million customers agree to share their genetic information for research purposes. This remarkable sharing of information holds some modest promise for the personalized medicine goal, but there are also some serious privacy issues inherent in the system.
The Genetic Information Nondiscrimination Act (GINA), passed in 2008, only protects against discrimination in the workplace. Life insurance companies and others can still access genetic information from some DTC databases (they pay for the right, of course). You are, as Erin Murphy notes, “paying your money to give your data to a private company, which will then use it in untold ways.” Other technologies have shown us to be willing donors of our personal information and DTC appears to be no different. I’d like to point out in this context, the quote, “What Orwell failed to predict is that we'd buy the cameras ourselves, and that our biggest fear would be that nobody was watching.” While many are skeptical of “big government” seeking information, we seem to have few qualms about surrendering even our most personal information to corporations.
Sometimes DTC can work out in a context beyond personal enjoyment. The remarkable discovery of the Green River killer after decades of dead ends and the identification of remains are testament to how DTC, in combination with clever detective work, can bring resolution to cold cases. Yet the heavy lift of using DNA to improve human health is likely happening within the traditional medical research community, not DTC vendors. Similarly, with the limited genetic counselling and screening these DTC vendors provide, a couple planning on having a baby and wanting genetic counselling, for instance, would not likely use DTC.
Medicine will have an enormous impact on the lifespan and quality of life of all humanity. Yet even with the excitement of DTC and medical genetic testing, and the limitations we have observed, another important issue, that of access, remains. Who will have access to this life-altering technology? Will those in low- and medium-income countries ever hope to benefit from what we know about genes and disease? I close with Fatimah Jackson’s thoughts. She notes that diversity is “a moving target” and hopes that despite the terrible legacy of the past, communities of color can come together and ally themselves with the medical genetics community so that all people, regardless of racial background, can benefit from the coming era of personalized medicine.
Watch the full conversation.
Check out more CHM resources and learn about upcoming decoding trust and tech events and online materials. Next up on February 18, 2021: Should We Fear AI?
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