Twenty years ago, the Human Genome Project unveiled the first map of humankind’s genetic instructions, an astonishing feat of technology that promised a future of medical treatments tailored to the quirks of a person’s DNA.
Since then, researchers have vastly increased our knowledge of how genes work and realized that there’s still a lot we don’t know about life’s blueprints. And though many drugs designed to target specific human genes or proteins have been approved, for most people the promise of precision medicine is still no more than that — a promise.
One reason is that the human reference genome and other genetic catalogs don’t reflect the diversity of humankind — most of the DNA is from people of European heritage. In many cases, that’s not a factor, but with some medical treatments, the differences can be crucial, as senior writer Tina Hesman Saey reports in this issue. Suggested approaches to make up for those shortcomings are fraught with ethical challenges.
As part of our project exploring the ethics of cutting-edge scientific research, Saey sought out researchers trying to find solutions to the problem of genetic databases dominated by samples from white people. One of those researchers is Constance Hilliard, an evolutionary historian at the University of North Texas in Denton, who points out that many scientists tend to assume that everyone on a continent is the same, and thus may miss how humans adapted to local conditions.
A key goal of this reporting project, which is funded by the Kavli Foundation, is to let the public be a part of the conversation, including using readers’ comments to inform the questions that our reporters ask scientists. So back in November, we posted a short video of Hilliard explaining her views and asked people what they thought about her proposal to diversify genetic databases.
Respondents overwhelmingly agreed that genetic research is important for advancing medical care, but many also expressed worry that emphasizing genetic differences could lead to more discrimination. There’s a long, tragic history of such efforts, and they continue today. As one reader commented: “The fear is that any differences that are found would be exploited by those who want to denigrate others.”
It’s crucial to bring up these ethical questions and think deeply about them before science happens, Saey told me. “What’s the best way to proceed — not just the best scientific way to proceed, but the most ethical and fair way to go forward?” she asked. “Or maybe decide it’s not ethical and fair to go forward, and then we decide what to do with that.” We’d like you to continue to be part of this conversation. Please read Saey’s story and e-mail us at firstname.lastname@example.org. We’ll report back on what we hear from readers and hope to continue these conversations. Modern science is a powerful force for good. But even unintentional harms can have seismic impacts, especially in an era when science is doubted and even demonized by some.