The Cautious GeneGenetic Testing Inherits a Legacy of Distrust

Artwork by Bekezela Mguni

The Power issue cover featuring Meech, a Black woman with short hair dressed in a black and gold embroidered jacket and a Shakespearean ruff adorned around her neck, arms crossed in front giving a commanding look and demeanor.
This article was published in Power Issue #88 | Fall 2020

In 2014, New York–based attorney Erika Stallings decided to get a BRCA test, which determines whether a person’s DNA includes the gene mutation likely to cause breast cancer. Stallings’s mother had been diagnosed with breast cancer at the age of 28 in 1993, and then had cancer again in 2007. While her mother is in remission, Stallings wanted to know if she was also at risk. After going over her family’s medical history with an oncologist who was also a certified genetic counselor, and having a small amount of blood drawn, Stallings found out weeks later that she carries a BRCA2 gene mutation, a hereditary cancer mutation that causes up to an 85 percent lifetime risk of developing breast cancer. Later that year, Stallings underwent a preventative double mastectomy. She also learned she was genetically at risk of colon cancer, ovarian cancer, pancreatic cancer, and melanoma, so she started doing screenings for ovarian cancer every six months and annual melanoma screenings. “It’s something I had put off for a while,” Stallings told Bitch. “For me personally, I knew if I was tested and positive for a mutation, I [was] probably going to have a mastectomy.” But Stallings says her experience is unique. Someone helped her get an appointment with an oncologist. She had a sense of the questions she should ask, and support throughout the process. Not everyone has that level of access.

The business of genetic testing is booming: Headlines in national publications, including the Atlantic and Vox, as well as books such as Dani Shapiro’s Inheritance: A Memoir of Genealogy, Paternity, and Love (2019), have unlocked the wonders—and the perils—of genetic testing. People have discovered family members they never knew existed, unearthed long-buried secrets, and gained an understanding of how their family’s health history impacts their own. An entire DNA-tourism industry has emerged to facilitate travel for those looking to connect to their family’s lineage; longtime cold cases are getting solved thanks to law enforcement’s access to genetic profiles; and, of course, people are increasingly claiming their heritage in Facebook and Instagram posts of their genetic-testing results. Pop culture has also played a part in raising awareness about genetic testing: Finding Your Roots, a PBS series where Harvard University professor Henry Louis Gates Jr. helps celebrities discover their ancestral lineage, has increased public interest in the practice of DNA testing.

In 2013, Angelina Jolie revealed in an essay for the New York Times that she had the BRCA1 gene mutation and opted to have a preventative double mastectomy to reduce her chance of developing breast cancer. A 2018 study published in Breast Cancer Research and Treatment found that “overall, the Angelina Jolie Effect represents a long-lasting impact of a celebrity on public health awareness with significant increases in genetic testing and mastectomy rates, which were measurable and sustained over subsequent several years.” However, the taking of Henrietta Lacks’s cancer cells without her consent and the practice of eugenics as recently as the 1970s have also created a multigenerational distrust in U.S. medical research, particularly in communities of color. And, as in so many areas of scientific advancement, communities of color are being left behind in this ever-expanding realm, making it harder for scientists and medical professionals to understand what treatments might work best for them. The complexity of working with and understanding DNA is also steeped in institutional racism and the historical mistreatment of people of color by the medical community.

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That includes the Tuskegee syphilis experiment, where hundreds of Black men living with syphilis in Alabama between 1932 and 1972 had penicillin withheld from them, even though it had been the standard treatment since the 1940s. That longstanding distrust as well as a growing knowledge gap is now creating holes in genomic research. Experts say that the lack of people of color participating in genomic research is endangering the future of medical developments that may help doctors better understand how to treat them. “The shadow[s] of Tuskegee and Henrietta Lacks are very, very long,” Lawrence Brody, PhD, director of the National Institute of Health’s (NIH’s) Division of Genomics and Society at the Human Genome Research Institute, told Bitch. He says diversity in genomics, from the people getting their DNA samples collected to genetic counselors and researchers, is critical. “A lot of scientists who came of age long after those incidences underestimated the impact on the community of those kinds of abuses that have happened,” Brody says. “Anyone who’s working with communities of color has to understand the context of the past, how much it’s still here, and how being a scientist attaches you to the past whether you had anything to do with it or not.”

Research with a Past

Alicia Zhou, chief science officer for genetic testing company Color, says that when we think about the importance of closing disparities in medicine, we should look at heart-disease research. She points out that early research about what symptoms to look for in a heart attack was mostly based on male participants, making it more likely for women to dismiss oncoming symptoms that didn’t present as chest pressure and sudden pain. Heart-disease advocacy groups have since taken steps to better educate women on signs they should look for, including nausea, dizziness, and neck and arm pain, through public service campaigns and reiterating that heart disease is the number-one killer for women. “We’ve already had unintentional sort[s] of biases in the way that medicine is being currently delivered and prescribed,” Zhou says. “If we don’t actively try to recruit [research subjects] from diverse populations, it will only widen these disparity gaps.”

Genetic testing includes commercial direct-to-consumer testing kits as well as medical testing. Mainstream direct-to-consumer kits, including those from 23andMe and Ancestry, often focus on tracing the user’s geographic origins or, medically, on the risk of health issues such as breast cancer, diabetes, Alzheimer’s disease, and cystic fibrosis. However, even after results are delivered, the companies encourage people to get those results confirmed through a laboratory or a genetic counselor to better understand their risks for chronic illnesses and other diseases. The labs can both confirm test results and go more in-depth as to what those results actually mean. The idea of genetic testing has been packaged and sold to the public over time as the final confirmation of who they are and what their future holds, says Brody. For instance, Brody points to how often high blood pressure risks can come up in genetic testing results, though lifestyle and environment are also major factors in determining someone’s risk of developing high blood pressure. “We have all of these sayings—‘it’s in your DNA,’ ‘it’s in the genes’—[and] I think people get very comfortable with [the idea] that everything about them is determined by genetics,” Brody says. “Trying to impress upon people that there are other factors to who we are as humans and that genes play a role in that to some extent…is a hard thing to get across.”

Blessed is the Fruit of Thy Womb: In Honor of Henrietta Lacks (Artwork by Bekezela Mguni)

Stallings said that people are not always financially ready or medically literate enough to take the next steps of calling a genetic counselor and getting their results confirmed. Primary care physicians treating for common colds, high blood pressure, or diabetes are also not always familiar with genetic testing. In addition, some health insurance companies don’t cover the cost of genetic testing, forcing people to pay out of pocket. “I hear ‘Well, I don’t want to have a mastectomy’ or various versions of ‘I don’t want to have a mastectomy’ or ‘if I get these tests, I can’t do anything about these results,’” Stallings says. “Generally what I say to people is you don’t have to have a mastectomy. There are many different options.” Stallings points out that women of color are not always familiar with hereditary testing, even if they know their family history includes chronic diseases. As Stallings wrote for NPR in July 2019, the lack of people of color working as genetic counselors hasn’t helped. Students of color are often not exposed to genetic counseling as a career option. But seeing people of color as genetic counselors may prompt patients of color to ask more questions and feel more comfortable discussing the results of their tests. Stallings also says it’s important to help people understand they have an elevated risk if there is a family history of certain diseases. “I’ll meet people who start telling me their family history and I’m like, ‘Has anyone talked to you about getting a test and what that means?’”

Growth of Testing

Though at-home genetic-testing kits have become more widely used over the last decade, researchers have found they often have more data for people of European descent than for people of color. Amid that growth, genetic testing companies are also weathering criticisms and scrutiny about how they collect data and how it may be used by pharmaceutical companies and law enforcement. While the companies have tried to stress that consumers should read the fine print and FAQ pages, those taking the tests are not always aware of what they’ve signed up for. The legalese surrounding the data can also be confusing for testees to understand. Helping communities of color better understand genetic testing is particularly tough. A common suspicion among communities of color is that “we want to somehow be able to expose vulnerabilities of certain communities,” says Carla Easter, PhD, chief of the Education and Community Involvement branch at the NIH’s Human Genome Research Institute. She says part of that wariness stems from the fact that “people don’t want a repeat of that history,” of Lacks or the Tuskegee experiment, and are more openly demanding answers around how their information will be used, who owns their information, how they’ll be informed during the process, and who may profit from their data.

Students of color are often not exposed to genetic counseling as a career option. But seeing people of color as genetic counselors may prompt patients of color to ask more questions and feel more comfortable discussing the results of their tests.

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“Lately I’ve been hearing the word ‘eugenics’ come up more, and [the idea that] science is somehow thinking ‘how can it somehow utilize genetics as a way to impact, in not positive ways, particular groups of people,’” Easter says. “I think that [the] whole discussion has become less in the shadows…I think people are at times suspicious about the information they’re given, especially when it comes to research projects.” Altovise Ewing, PhD, a genetics counselor and medical science liaison for 23andMe, said in an email that the company is “continuously working to grow an inclusive product.” The company has pushed to create health products that are relevant to people of African descent, including testing for G6PD, a form of anemia, and TTR-related hereditary amyloidosis, a rare condition that can damage the nerves, the heart, and other parts of the body. The company points out in its general email statement that hereditary amyloidosis is estimated to affect one in 28 African Americans.

“Whether you identify with an underrepresented population or you do not identify with a binary gender, we want our product to be relevant for people of all backgrounds,” Ewing says. “We are working to expand our current reports and surface reports of highest relevance to the individual.” Meanwhile, genetic testing can also be done through a medical provider that can more extensively test for medical issues and connect patients to a genetic counselor who can direct the next steps. When Color launched in 2015, Zhou said part of that mission included making home kits available and automatically connecting participants with local genetic counselors. The company has also partnered with Morehouse College’s School of Medicine and the University of Pennsylvania to provide genetic testing free of charge to low-income patients who need the testing but can’t afford it.

But beyond encouraging people of color to do genetic testing, Zhou says it’s important for companies to give back to them, too. That can include simple things such as offering fun facts about participants’ genetics or getting feedback on the genetic testing process.  “Sure, science is getting a lot of data that can be used to drive drug development, and in the future it’s going to be a wealth of new ideas and innovations for the United States,” Zhou says. “At the end of the day, you have to return something to the participant.” Stallings says that she often directs people to use the National Society of Genetic Counselors’s website to find a genetic counselor in their community and points out that work is underway with the Minority Genetics Professional Network to bring more people of color into genetic counseling. “I always tell people getting the test is the first part.”

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by Marissa Evans
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Marissa Evans is a journalist based in Minneapolis. Her reporting has appeared in Oprah magazine, the Atlantic, Civil Eats, NBCBLK, Kaiser Health News, the Washington Post, and other outlets. She won a 2018 ONA Online Journalism Award for her reporting on maternal mortality in Texas.