The Impact of Personal and Family Medical History on Family Sharing Practices in the Mass General Brigham Biobank

Principal Investigator: Robert C. Green

Authors: Sophia Adelson, Carrie Blout Zawatsky, MS, CGC, Nidhi Shah, MD, Emma Perez, MGC, CGC, Robert C. Green, MD, MPH, FACMG
Lay Abstract

Many biobanks across the country are returning medically actionable genetic findings to their research participants. Participants are often encouraged to share these results with their biological relatives to identify at-risk family members and to promote targeted disease management and prevention interventions. Only about 30% of first-degree relatives (parents, siblings, and children) pursue follow-up testing called cascade testing. Family communication of genetic results has been identified as an important initiator of cascade testing, but the research studying familial result disclosure practices in a biobank setting is limited.

 

We reviewed the medical records of 43 Mass General Brigham Biobank participants to identify those who had a significant personal or family history related to their genetic finding. Result disclosure practices with biological siblings and children were compared between those with and without a history of the disease; there were no significant differences in sharing results with family members. Across all participants, most (93%) shared or planned to share their results with at least one reported sibling or child, and more than half (58%) disclosed or intended to disclose to all.

Scientific Abstract

Biobanks worldwide are beginning to return genomic results. Family sharing practices of participants receiving unanticipated genomic information are still unknown. We present data from the Mass General Brigham Biobank.

 

Variants in ACMG59 genes were returnable if the variant was not previously documented in the participant’s medical record. Surveys from 1- and 6-months post disclosure were reviewed for intended and actual sharing practices with first-degree relatives, siblings and children (FDR); parents were excluded due to vital status uncertainty. Retrospective medical record review determined if participants met clinical criteria for genetic testing, based on personal and family history, using established guidelines (NCCN; DLCN; Natarjan et al 2016). G-tests determined significance.

 

Of the 43 participants, 63% met criteria for clinical testing. In those who met criteria compared to those who did not, 59% and 56% respectively, shared or planned to share with all FDR, followed by some FDR 33% and 38%, followed by no FDR 7% and 6%. There were no significant differences in sharing between those who met criteria for testing and those who did not (G=0.0848, df=2, p=0.9585).

 

Findings demonstrate that irrespective of history, most Biobank participants shared or planned to share results with FDR.

Clinical Implications
This is the first study to report how previously known personal and family history impacts family sharing in a large health system Biobank returning genomic results. These findings have implications for follow-up genetic testing and care in family members.

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