Whole-exome sequencing in pediatrics: parents’ considerations toward return of unsolicited findings for their child

Abstract

Parents' preferences for unsolicited findings (UFs) from diagnostic whole-exome sequencing (WES) for their children remain largely unexplored. Our aim was to gain insight into parental considerations favoring acceptance/decline of UFs pertaining to their child. We conducted 20 qualitative, semistructured interviews with parents (n = 34) of children with a developmental delay, aged o1 to 17 years, after consenting to WES, but before feedback of results. Key findings from our study were that all parents favored acceptance of UFs for medically actionable conditions in childhood, but that preferences and considerations diverged for UFs with no medical actionability, or only in adulthood, and regarding carrier-status. Sometimes non-medical utility considerations (considerations of usefulness of knowing UFs, not rooted in (preventive) medical treatment or controls) were given in favor of disclosure of UFs. Sometimes the child's future autonomy formed a reason to withhold UFs at present, despite an unfavorable prognosis concerning the child's cognitive capabilities. Some parents only preferred receiving UFs if these findings were directly related to their reasons for seeking a diagnosis. These findings are essential for developing morally responsible policy and for counseling. Further research should focus on whether considerations of non-medical utility alone can justify disclosure of UFs and whether reasons for seeking a diagnosis place further constraints on what UFs may be returned/withheld. How parents can be aided in contemplating different scenarios regarding their child's future development also deserves further inquiry.

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

“…As such, inpatient pretest counseling was historically not provided by GCs. However, rES trio testing requires complex coordination and thorough pretest counseling, complicated by psychosocial considerations for parents of critically-ill infants (Bergner et al, 2014;Clift et al, 2015;Cornelis et al, 2016;Frankel, Pereira, & McGuire, 2016;Roche & Berg, 2015;Sapp et al, 2014).…”

Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy

“…While some of these concerns are currently being addressed within studies exploring consent processes for additional findings in genomic sequencing studies (e.g. Cornelis et al 2016), whether and how information needs alter and fluctuate over the course of reproductive decision-making has yet to be thoroughly explored.…”

Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder

“…Genetic diagnostic tests could cause stress in children/parents and can result in unintended outcomes, such as a new diagnosis, not explaining the specific deficit. Since the, introduction of the WES, research has shown that parents were more likely to accept UF's for medically actionable conditions in childhood ( 46 ). For UF's of non-actionable conditions, the preference of the parents was found to not perform genetic analyses or wait until adulthood to preserve the autonomy of the child ( 46 ).…”

“…Since the, introduction of the WES, research has shown that parents were more likely to accept UF's for medically actionable conditions in childhood ( 46 ). For UF's of non-actionable conditions, the preference of the parents was found to not perform genetic analyses or wait until adulthood to preserve the autonomy of the child ( 46 ). This indicates the importance of genetic counseling before genetic testing so that such unsolicited findings are addressed in advance.…”