Identifying Heteronormative Presumptions and "Breeder Bias" in Disclosure of Pediatric Genomic Testing Results to Adolescents and Their Parents

BACKGROUND: Genomic sequencing may end the diagnostic odyssey for families of children who receive a definitive diagnosis. Frequently, however, such testing fails to identify the cause of the child’s condition. Further, sequencing may yield unanticipated, “secondary” findings for additional disorders with a range of outcomes, and recessive carrier status results. Secondary and carrier status findings may be considered to have reproductive value. Though fully informed reproductive decision-making is of potential benefit, limited research explores the potential negative impact of receiving such findings for self-esteem or reproductive planning, particularly before adolescents are actively pursuing conception. This study evaluated provider messages, and adolescent and parent reactions, to the relevance of pediatric genomic testing information for future family planning.

METHODS: Providers at specialty clinics at a mid-Atlantic research and teaching hospital recruited adolescents with hearing loss, cardiac conditions, and platelet disorders who had completed genomic sequencing through an NIH-funded research protocol. Participants included six girls and four boys aged 12-19 at recruitment and 14-20 at follow-up, and nine mothers and one father. Immediately before results were discussed, the clinician asked for consent from parents and assent from adolescents to audio record the session. Beyond diagnostic results, families could opt to receive secondary findings for medically actionable disorders and/or carrier status. Adolescents and a parent completed individual follow-up interviews three-month later. Interviews were recorded, transcribed verbatim, and triangulated with disclosure session transcripts for modified grounded theory analysis.

FINDINGS: In nine of ten sessions, providers discussed the implications of sequencing results for the adolescent’s reproductive planning. This included providers from each disease cohort, returning findings to all six girls and three of the four boys. In all eight sessions where carrier status results were discussed, providers introduced reproductive options without prompting by the adolescent or parent. Three adolescents received diagnostic findings; providers introduced and encouraged utilization of reproductive options to prevent the birth of a child with the adolescent’s condition with the two girls, but not the boy.

No provider queried adolescent sexual orientation or intent to partner or reproduce. Rather, in all sessions provider language revealed assumptions that adolescents planned on marriage to opposite-sex partners and biological parenthood. Regardless of patient age, providers implicitly and explicitly communicated that carrier status findings necessitated intervention to prevent the birth of an affected child by avoiding unplanned pregnancy, testing future partners, and utilizing prenatal testing and/or reproductive technologies. During follow up interviews all parents, six adolescent females, and one male, discussed relief at learning about reproductive options. Parents retained provider counsel to adolescents regarding reproductive planning, and expressed intent to encourage their adolescent’s future uptake of these reproductive options to prevent the birth of an affected child in the next generation.

CONCLUSIONS/IMPLICATIONS: Provider messages about reproductive options introduced moral imperatives during a critical period of identity and sexual development. Such notions of responsible genomic citizenship may challenge adolescents’ self-worth. Consideration of how providers relay reproductively relevant genomic test results in the pediatric context, and patient and family reactions, is critical to inform best practices in pediatric medicine.