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Blog

Problem of the Week: Notify or Don’t Notify?

  • March 3, 2020
  • , 7:36 am

Our problem of the week is an ethical dilemma, posed by the New England Journal of Medicine to its readers 10 days ago.  Volunteers contributed DNA samples to investigators building a genetic database for study, on condition the data would be deidentified and kept confidential and that they themselves would not learn results.  Should participants at significant genetic risk for cancer now be notified?

From the New England Journal of Medicine (Feb. 20, 2020).  “Twenty years ago, as part of a major government-sponsored health initiative, DNA samples were gathered from more than 300,000 participants to create a nationwide genetic database for biomedical researchers. Participants were made aware that their DNA samples might undergo whole-genome sequencing and would be used for biomedical research. Participants were told that their data would be deidentified and their confidentiality protected and that they would not be notified of the research findings. Now, 20 years later, researchers analyzing the genetic database have identified at least 1500 participants with the pathogenic variants in BRCA1 and BRCA2.

The cumulative risk for development of breast cancer by the age of 80 years is about 72% among women with pathogenic variants of BRCA1 and about 69% among women with pathogenic variants in BRCA2.  Women who know that they carry a pathogenic variant of BRCA1 or BRCA2 can choose to reduce their cancer risk by chemoprevention, risk-reduction surgeries, or screening for early detection.”

The Journal editors decided to pose this dilemma to their readers.  By midday on the first day of the poll, over 500 responses had been received.  Roughly ⅔ were in favor of notifying the women, about ⅓ were opposed.

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