While sequencing a participant’s DNA as part of a large study, what should happen if researchers discover gene variants that increase the risk of conditions that can be prevented with medical treatment or surveillance? Some researchers believe they are required to find the participants — often years after providing a DNA sample — to contact them and tell them what they found. But some research subjects, such as Ms. Konstadt, feel they have a right not to know. Is it ethical for doctors to let them insist that they can choose not to learn more without first knowing the specific risk they face?
for dr. Robert Green, a researcher for Ms. Konstadt’s DNA biobank, the Mass General Brigham Biobank, and author of a recent paper on her policy, the answers are clear. The biobank’s consent form states that if the researchers find a variant of concern, and if there is an intervention that could reduce the risk, participants will be contacted. There will be seven attempts to reach participants – phone calls and letters – before the team gives up.
“We provide the information without 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 you’re offered that you don’t want to hear more, or even hang up when we call, that’s your choice.”
Two days after Ms. Konstadt made that choice when she answered the first caller, she got another call. Was she sure she didn’t want to know? Again, she refused and did the same after a third phone call.
dr. Green and his colleagues point out that the option to be contacted was in the consent form:
While you should not expect results from your participation in this study, we will attempt to contact you if Biobank experts determine that the study results of your sample are of major medical importance. In some situations, follow-up testing may be required in a certified clinical laboratory. You and your health care provider 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.
Of the more than 36,000 participants whose DNA the researchers analyzed, the Mass General Brigham Biobank found 425 with gene variants of concern whose effects could be enhanced by — depending on the genes — enhanced cancer surveillance or aggressive medical treatments to lower cholesterol levels, for example.