Why we need safeguards against genetic discrimination [MIT Tech Review]

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A couple of years ago, I spat into a little plastic tube, stuck it in the post, and waited for a company to analyze markers on my DNA to estimate how biologically old I am. It’s not the first time I’ve shared my genetic data for a story. Over a decade ago, I shared a DNA sample with a company that promised to tell me about my ancestry.

Of course, I’m not the only one. Tens of millions of people have shipped their DNA off to companies offering to reveal clues about their customers’ health or ancestry, or even to generate tailored diet or exercise advice. And then there are all the people who have had genetic tests as part of their clinical care, under a doctor’s supervision. Add it all together, and there’s a hell of a lot of genetic data out there.

It isn’t always clear how secure this data is, or who might end up getting their hands on it—and how that information might affect people’s lives. I don’t want my insurance provider or my employer to make decisions about my future on the basis of my genetic test results, for example. Scientists, ethicists and legal scholars aren’t clear on the matter either. They are still getting to grips with what genetic discrimination entails—and how we can defend against it.

If we’re going to protect ourselves from genetic discrimination, we first have to figure out what it is. Unfortunately, no one has a good handle on how widespread it is, says Yann Joly, director of the Centre of Genomics and Policy at McGill University in Quebec. And that’s partly because scientists keep defining it in different ways. In a paper published last month, Joly and his colleagues listed 12 different definitions that have been used in various studies since the 1990s. So what is it?

“I see genetic discrimination as a child of eugenics practices,” says Joly. Modern eugenics, which took off in the late 19th century, was all about limiting the ability of some people to pass on their genes to future generations. Those who were considered “feeble minded” or “mentally defective” could be flung into institutions, isolated from the rest of the population, and forced or coerced into having procedures that left them unable to have children. Disturbingly, some of these practices have endured. In the fiscal years 2005-2006 and 2012-2013, 144 women in California’s prisons were sterilized—many without informed consent.

These cases are thankfully rare. In recent years, ethicists and policymakers have been more worried about the potential misuse of genetic data by health-care and insurance providers. There have been instances in which people have been refused health insurance or life insurance on the basis of a genetic result, such as one that predicts the onset of Huntington’s disease. (In the UK, where I live, life insurance providers are not meant to ask for a genetic test or use the results of one—unless the person has tested positive for Huntington’s.)

Joly is collecting reports of suspected discrimination in his role at the Genetic Discrimination Observatory, a network of researchers working on the issue. He tells me that in one recent report, a woman wrote about her experience after she had been referred to a new doctor. This woman had previously taken a genetic test that revealed she would not respond well to certain medicines. Her new doctor told her he would only take her on as a patient if she first signed a waiver releasing him of any responsibility over her welfare if she didn’t follow the advice generated by her genetic test.

“It’s unacceptable,” says Joly. “Why would you sign a waiver because of a genetic predisposition? We’re not asking people with cancer to [do so]. As soon as you start treating people differently because of genetic factors … that’s genetic discrimination.”

Many countries have established laws to protect people from these kinds of discrimination. But these laws, too, can vary hugely both when it comes to defining what genetic discrimination is and to how they safeguard against it. The law in Canada focuses on DNA, RNA, and chromosome tests, for example. But you don’t always need such a test to know if you’re at risk for a genetic disease. A person might have a family history of a disease or already be showing symptoms of it.

And then there are the newer technologies. Take, for example, the kind of test that I took to measure my biological age. Many aging tests measure either chemical biomarkers in the body or epigenetic markers on the DNA—not necessarily the DNA itself. These tests are meant to indicate how close a person is to death. You might not want your life insurance provider to know or act on the results of those, either.

Joly and his colleagues have come up with a new definition. And they’ve kept it broad. “The narrower the definition, the easier it is to get around it,” he says. He wanted to avoid excluding the experiences of any people who feel they’ve experienced genetic discrimination. Here it is:

“Genetic discrimination involves an individual or a group being negatively treated, unfairly profiled or harmed, relative to the rest of the population, on the basis of actual or presumed genetic characteristics.“

It will be up to policymakers to decide how to design laws around genetic discrimination. And it won’t be simple. The laws may need to look different in different countries, depending on what technologies are available and how they are being used. Perhaps some governments will want to ensure that residents have access to technologies, while other may choose to limit access. In some cases, a health-care provider may need to make decisions about a person’s care based on their genetic results.

In the meantime, Joly has advice for anyone worried about genetic discrimination. First, don’t let such concerns keep you from having a genetic test that you might need for your own health. As things stand, the risk of being discriminated against on the basis of these tests is still quite small.

And when it comes to consumer genetic testing, it’s worth looking closely at the company’s terms and conditions to find out how your data might be shared or used. It is also useful to look up the safeguarding laws in your own country or state, which can give you a good idea of when you’re within your rights to refuse to share your data.

Shortly after I received the results from my genetic tests, I asked the companies involved to delete my data. It’s not a foolproof approach—last year, hackers stole personal data on 6.9 million 23andMe customers—but at least it’s something. Just this week I was offered yet another genetic test. I’m still thinking on it.

Now read the rest of The Checkup

Read more from MIT Technology Review’s archive:

As of 2019, more than 26 million people had undertaken a consumer genetic test, as my colleague Antonio Regalado found. The number is likely to have grown significantly since then.
 
Some companies say they can build a picture of what a person looks like on the basis of DNA alone. The science is questionable, as Tate Ryan-Mosley found when she covered one such company.
 
The results of a genetic test can have profound consequences, as Golda Arthur found when a test revealed she had a genetic mutation that put her at risk of ovarian cancer. Arthur, whose mother developed the disease, decided to undergo the prophylactic removal of her ovaries and fallopian tubes. 
 
Tests that measure biological age were selected by readers as our 11th breakthrough technology of 2022. You can read more about them here.
 
The company that gave me an estimate of my biological age later reanalyzed my data (before I had deleted it). That analysis suggested that my brain and liver were older than they should be. Great.

From around the web:

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