What should happen when researchers, while sequencing a participant’s DNA in a large study, discover genetic variants that increase the risk of diseases that could be prevented with medical treatment or to monitoring? Some researchers believe they have an obligation to track down participants — often years after providing a DNA sample — to contact them and tell them what they found. But some research subjects, like Ms. Konstadt, feel they have the right not to know. Is it ethical for doctors to let them insist that they can refuse to learn more without first knowing the particular risk they face?
For Dr. Robert Green, investigator of the biobank containing Ms. Konstadt’s DNA, Mass General Brigham Biobank, and author of a recent article on its policies, the answers are clear. The consent form for the biobank tells participants that if researchers find a variant of concern and if there is an intervention that can reduce the risk, participants will be contacted. There will be seven attempts to reach participants – calls and letters – before the team gives up.
“We offer the information, we don’t force 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 you don’t want to hear any more, or even hang up when we call you, that’s your choice.”
Two days after Ms. Konstadt made this choice when she answered the first caller, she received another call. Was she sure she didn’t want to know? Once again she refused and did the same after a third call.
Dr. Green and his colleagues point out that the option to be contacted was included in the consent form:
Although you should not expect to receive any results from your participation in this research, if the Biobank experts decide that the research results from your sample are of great medical importance, we will attempt to contact you. In some situations, follow-up testing may be required at a certified clinical laboratory. 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 this clause when signing the form.
Of more than 36,000 participants, whose DNA was analyzed by its researchers, the Mass General Brigham Biobank found 425 with worrying genetic variants whose effects could be improved by – depending on the genes – increased monitoring for cancer or aggressive medical treatments to lower cholesterol levels, for example. .