Systematic review of the uptake and outcomes from returning secondary findings to adult participants in research genomic testing

• Published in: Journal of genetic counseling 2024-12, Vol.33 (6), p.1145-1158
• Main Authors: Mitchell, Lucas A., Jivani, Karishma, Young, Mary‐Anne, Jacobs, Chris, Willis, Amanda M.
• Format: Article
• Language: English
• Subjects: Adult; Genetic Testing - methods; genome sequencing; Genomics; Health care; health promotion; Humans; Incidental Findings; Medical personnel; outcome; research participant; Reviews; secondary findings; Systematic review; Uptake
• ISSN: 1059-7700; 1573-3599; 1573-3599
• DOI: 10.1002/jgc4.1865

The increasing use of genomic sequencing in research means secondary findings (SF) is more frequently detected and becoming a more pressing issue for researchers. This is reflected by the recent publication of multiple guidelines on this issue, calling for researchers to have a plan for managing SF prior to commencing their research. A deeper understanding of participants' experiences and outcomes from receiving SF is needed to ensure that the return of SF is conducted ethically and with adequate support. This review focuses on the uptake and outcomes of receiving actionable SF for research participants. This review included studies from January 2010 to January 2023. Databases searched included Medline, Embase, PsycINFO, and Scopus. Of the 3903 studies identified, 29 were included in the analysis. The uptake of SF ranged between 20% and 97%, and outcomes were categorized into psychological, clinical, lifestyle and behavioral, and family outcomes. The results indicate there is minimal psychological impact from receiving SF. Almost all participants greatly valued receiving SF. These findings highlight considerations for researchers when returning results, including the importance of involving genetic health professionals in consenting, results return process, and ensuring continuity of care by engaging healthcare providers.