Parental Expectations and Attitudes Towards Receiving Genomic Information About Children Participating in a Population-Based Biorepository
whole exome sequencing, biorepository
Background/Aims: Guidelines published by the American College of Genetics and Genomics recommend, when clinical sequencing studies are performed, returning genetic results in 56 genes, regardless of patient age. The American Academy of Pediatrics and standard clinical genetic testing practice recommend neither testing nor providing results to children for adult-onset conditions with no childhood manifestations or screening guidelines, such as hereditary breast and ovarian cancer (HBOC) and Lynch syndrome. Geisinger’s MyCode® biorepository aims to collect samples and whole exome sequence data on 250,000 adult and pediatric participants. Consent to participate in MyCode includes consent to receive genomic results. Some genomic results have medical implications and management guidelines for children; however, the six genes related to HBOC and Lynch syndrome have no immediate health implications or recommended medical management for children. Prior studies have indicated that our adult participants are interested in genomic results regardless of medical actionability; however, few studies have reported on parental attitudes towards receiving results for their children that are medically actionable in childhood versus those that do not have implications until adulthood.
Methods: Multiple focus groups are being conducted with adult MyCode participants who have at least one child enrolled in the biorepository. Participants are selected on the basis of child age (0–8 or 9–17) and geographic location. A semi-structured guide was developed to elicit expectations regarding their children’s participation in the biorepository and opinions and reactions to different return of results scenarios. Parents are first introduced to the issues through a scenario in which they learn that a child has a genetic condition that can be medically managed in childhood (Marfan syndrome), and then they are challenged to think about receiving genetic information about adult-onset conditions in their children, specifically HBOC and Lynch syndrome.
Results: Results from in-depth thematic analysis of focus group transcripts will be presented.
Conclusion: In developing pediatric biorepository consent processes and return of results protocols, it is crucial to elicit and understand both parental and, to the extent possible, pediatric participant attitudes and responses to different types of genomic information — specifically information that has childhood implications versus information that is medically actionable only during adulthood.
Rahm AK, Fan A, Bailey L, Fultz K, Williams JL, Davis FD. Parental expectations and attitudes towards receiving genomic information about children participating in a population-based biorepository. J Patient Cent Res Rev. 2016;3:191-2.