RESUMEN
Population-based genomic screening has the potential to improve health outcomes by identifying genetic causes of disease before they occur. While much attention has been paid to supporting the needs of the small percentage of patients who will receive a life-altering positive genomic screening result that requires medical attention, little attention has been given to the communication of negative screening results. As there are currently no best practices for returning negative genomic screening results, we drew on experiences across the electronic medical records and genomics (eMERGE) III Network to highlight the diversity of reporting methods employed, challenges encountered in reporting negative test results, and "lessons learned" across institutions. A 60-item survey that consisted of both multiple choice and open-ended questions was created to gather data across institutions. Even though institutions independently developed procedures for reporting negative results, and had very different study populations, we identified several similarities of approach, including but not limited to: returning results by mail, placing results in the electronic health record via an automated process, reporting results to participants' primary care provider, and providing genetic counseling to interested patients at no cost. Differences in procedures for reporting negative results included: differences in terminology used to describe negative results, definitions of negative results, guidance regarding the meaning of negative results for participants and their family members, and recommendations for clinical follow up. Our findings highlight emerging practices for reporting negative genomic screening results and highlight the need to create patient education and clinical support tools for reporting negative screening results.
RESUMEN
While prior studies have largely focused on family communication of diagnostic single-gene test results or specific types of cancer testing results, far less work has investigated family communication of cancer-related genetic results that include multi-gene panels, a broad array of cancer types/stages, and participants without family history of cancer. The study we report here examined individuals' anticipated barriers and benefits to sharing genetic information with family members. An 80+ gene panel was performed on participants recruited from Mayo Clinic, diagnosed with different cancer types, who did not have a family history suggestive of an inherited risk. Participants completed a 49-item survey before receiving genetic test results. Family variant testing was provided to family members at no cost, allowing factors influencing intent to share to be examined in the absence of financial burdens. In all, 1721 of 2984 individuals who received genetic testing completed the survey (57.7% completion rate). Participants' intent to share with parents, siblings, and children was inversely related to the number of anticipated barriers to sharing and directly related to the number of anticipated benefits to sharing. Of those participants who did not intend to share with parents, siblings, and adult children, 64.8%, 30.3%, and 67.6% reported that there were no barriers, while 17.1%, 24.5%, and 40.2.% reported there were no benefits. Findings indicate that barriers to sharing genetic information with family members vary across family member types, and an inability to identify at least one benefit of sharing with family members is a predictor of intent not to share.