The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing.
Children with unexplained developmental disabilities or congenital anomalies are increasingly being referred for genetic diagnostic testing using array-comparative genomic hybridisation (array-CGH) and next-generation sequencing (NGS) technologies. Their parents will have to deal with the secondary variants that will inevitably arise. We conducted 16 prospective semi-structured interviews with native Dutch-speaking parents whose children had undergone clinical array-CGH testing. The interviews explored the parents' experiences, expectations and opinions, specifically regarding the communication of results. Concrete examples of 'unexpected results' were provided to help guide the discussion, differing in severity, treatability, time of onset, level of risk, and carrier status. Data was analysed using content and narrative analysis methodologies. Parental motivations for and against the disclosure of unexpected results cluster around four main themes: actionability; knowledge; context; and characteristics of the result. Most parents wished to know all types of results. Disclosure was framed within a holistic, contextual, family-wide view. Genetic counselling should aim to integrate explorations of the motivations of parents surrounding the disclosure of results with good clinical care.
Centre for Biomedical Ethics and Law, Catholic University of Leuven, Leuven, Belgium.
G M
GM
Christenhusz
K
K
Devriendt
H
H
Peeters
H
H
Van Esch
K
K
Dierickx
D000328:Adult; D002648:Child; D055028:Comparative Genomic Hybridization / Q000379:methods*; D030881:Disclosure; D005817:Genetic Counseling / Q000379:methods* / Q000523:psychology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D033162:Incidental Findings; D007407:Interviews as Topic; D009426:Netherlands; D010290:Parents / Q000523:psychology*; D011446:Prospective Studies
disclosure; ethics; genetics; incidental findings; patient preferences