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Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

J A Anderson1,2,3, M S Meyn4,5,6,7,8, C Shuman4,5,6,9

  • 1Department of Bioethics, The Hospital for Sick Children, Toronto, Canada.

Journal of Medical Ethics
|November 27, 2016
PubMed

Insights

Parents undergoing whole genome sequencing (WGS) for their children often feel an obligation to receive adult-onset secondary variants (SVs), even when ambivalent. This "inflicted ought" challenges guidelines for returning incidental findings in pediatric genomic medicine.

Area of Science:

  • Genomic Medicine
  • Pediatric Genetics
  • Bioethics

Background:

  • Whole genome sequencing (WGS) is increasingly used in pediatrics for diagnosis.
  • Returning secondary variants (SVs) in pediatric WGS raises complex ethical and practical questions.
  • Parental experiences and preferences regarding SV return are crucial for clinical implementation.

Purpose of the Study:

  • To explore parents' experiences and preferences concerning the return of adult-onset secondary variants (SVs) from pediatric whole genome sequencing (WGS).
  • To understand the motivations and ambivalences parents have towards receiving medically actionable genomic information unrelated to their child's current condition.

Main Methods:

  • Qualitative interviews were conducted with parents whose children were undergoing WGS at the SickKids Genome Clinic.
  • Thematic analysis was used to analyze interview data regarding parents' WGS experiences and SV preferences.
  • 23 parents from 18 families participated in the study.

Main Results:

  • Parents viewed WGS as a valuable diagnostic tool but expressed ambivalence about receiving adult-onset SVs.
  • A sense of self-imposed obligation to know their child's SVs, termed "inflicted ought," was reported by many parents.
  • Some parents opted to receive SV information for their child but not for themselves.

Conclusions:

  • Parental enthusiasm for WGS as a diagnostic test coexists with a perceived duty to learn about potential adult-onset conditions in their children.
  • "Inflicted ought" highlights a parental obligation that challenges current guidelines for reporting incidental findings in pediatric WGS.
  • The findings suggest that not all parents prioritize relational aspects of their child's best interests, impacting justifications for current secondary findings policies.
Abstract

Keywords:
ChildrenFamilyGenethicsGenetic InformationGenetic Screening/Testing

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