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    Home » Their DNA Hides a Warning, but They Don’t Want to Know What It Says

    Their DNA Hides a Warning, but They Don’t Want to Know What It Says

    January 21, 20223 Mins Read Health
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    What should happen when researchers, while sequencing a participant’s DNA as part of a large study, discover gene variants that increase the risk for conditions that might be prevented with medical treatment or surveillance? Some researchers believe they have an obligation to find the participants — often years after they provided a DNA sample — contact them, and tell them what they have found. But, some research subjects, like Ms. Konstadt, feel they have a right not to know. Is it ethical for doctors to let them insist they can opt out of learning more without first knowing the particular risk they are facing?

    For Dr. Robert Green, an investigator for the biobank with Ms. Konstadt’s DNA, the Mass General Brigham Biobank, and author of a recent paper about its policies, the answers are clear. The consent form for the biobank tells participants that if the researchers find a worrisome variant, and if there is an intervention that can reduce risk, the participants will be contacted. There will be seven attempts to reach participants — calls and letters — before the team gives up.

    “We are offering the information, not forcing participants to accept it,” said Dr. Green, who is also a geneticist and professor of medicine at Harvard. “If you don’t answer the phone or decide when offered that you don’t want to hear anything more, or even hang up on us when we call, then that’s your choice.”

    Two days after Ms. Konstadt made that choice when she replied to the first caller, she got another call. Was she sure she didn’t want to know? Once again, she declined, and did the same after a third call.

    Dr. Green and his colleagues point out that the possibility of being contacted was in the consent form:

    While you should not expect to receive any results from your participation in this research, if experts from the Biobank decide that research results from your sample are of high medical importance, we will attempt to contact you. In some situations, follow up testing might be needed in a certified clinical lab. You and your medical insurer may be responsible for the costs of these tests and any follow up care, including deductibles and co-payments.

    But some, like Ms. Konstadt, did not notice that clause when signing the form.

    Out of more than 36,000 participants, whose DNA its researchers analyzed, the Mass General Brigham Biobank found 425 with worrisome gene variants whose effects could be ameliorated by — depending on the genes — enhanced cancer surveillance or aggressive medical treatments to lower cholesterol levels, for example.

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