Presenters: Ellie Pebbles
Authors: Deborah Himes, Ellen Pebbles, Sarah Welty, Sarah Davis, Elizabeth Hopkins, Heather Hampel, Amanda Gammon, Kimberly Kaphingst, Whitney Cope
Faculty Advisor: Deborah Himes
Institution: Brigham Young University
Purpose:Hereditary disorders have health implications for patients’ family members. Family members need risk information to enhance screening and prevention. Typically, genetic healthcare providers ask their patients to share information with family members. Ineffective communication by patients may result in at-risk family members and their primary care providers (PCPs) remaining uninformed about risk. Some have proposed direct disclosure fromgenetic practitioners to at-risk family members and their PCPs.The purpose of this systematic review is to synthesize current literature related to three research questions: (1)What are current practices related to genetic healthcare providers directly contacting their patients’ family members to disclose genetic risk information?(2)What are the attitudes and/or perceptions of directly contacting family members about genetic information? (3)What are current attitudes and practices related to genetic healthcare providers directly contacting PCPs of their patients’ family members to disclose genetic risk information? Methods:Relevant search terms were used to search the CINAHL, Embase, MedLine, PsychInfo, Web of Science, Scopus and Academic Search Ultimate databases for articles published in English between January 2006 and June 2021. Results:We identified 18,955 records through database searches and 19 through hand-searching. After removing duplicates and applying inclusion criteria, 63 papers were assessed in our final review. This review shows that some genetic healthcare providers are reaching out directly to at-risk relatives, resulting in improved outcomes for family members. Views on directly contacting family members vary due to the ethical dilemma of patient confidentiality versus duty to warn. There is limited evidence of genetic healthcare professionals informing PCPs of family members about their risk for developing a genetic disorder. Conclusions:We recommend future research focused on the efficacy of direct provider-to-provider contact with outcomes focused on testing and the uptake of preventative/screening measures by family members.