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Around five years ago, I asked our institutional ethics office @UMich if I could return potentially life-saving genetic information to research participants. @UMich asked me: but are you sure they want it? (thread)
So we asked research participants in the @umichCVC biobank - would you want to know if we found a (genetic) change in your DNA that put you at high risk for a disease you could prevent? 2/n
A talented genetic counseling master's student designed a survey (together with genetic counseling faculty Wendy Uhlmann, CGC, and health behavior faculty Scott Roberts, PhD) and asked 225 of our biobank participants - would you want to know? 3/n
Then carefully explained the caveats with research genetic data (small error rate of sample swap, mistake in genetic detection) and some uncertainty in whether the genetic change CAUSES a disease or not. 4/n
94% of biobank participants surveyed said YES (somewhat, very or extremely likely), please tell me if I have a genetic change that will change my clinical care 5/n
So now we ask right on the consent forms if participants would want to know if we find a genetic change -- perhaps one that gives them high risk of aortic dissection -- and a doctor would treat them differently because of it. As we saw, 6% say 'no thanks' and 94% say 'yes' 6/n
An example might be a patient with a genetic change causing Marfan syndrome. Their cardiologist might consider surgical intervention to repair their aorta sooner. 7/n
We also asked research volunteers HOW they'd like to be told. The winners were in-person (88% acceptable) or by letter (88% acceptable), then patient portal (82%), phone call (75%) or email (63% said acceptable). 8/n
Thanks Jamie Love-Nichols, CGC, for helping our biobank follow patient-set priorities, and helping us understand that we should return potentially life-saving genetic research information to patients. 9/n
Research now published in the Journal of Genetic Counseling: Love-Nichols, Uhlmann, Arscott, Willer, Hornsby, and Roberts https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1341
