The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing

Faith Cheung; Patricia Birch; J M Friedman; CAUSES Study; GenCOUNSEL Study; Alison M Elliott; Shelin Adam

doi:10.1002/jgc4.1558

The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing

J Genet Couns. 2022 Aug;31(4):887-900. doi: 10.1002/jgc4.1558. Epub 2022 Feb 6.

Authors

Faith Cheung¹, Patricia Birch^{1

2}, J M Friedman^{1

2}; CAUSES Study^{1

2}; GenCOUNSEL Study; Alison M Elliott^{1

2

3}, Shelin Adam^{1

2}

Affiliations

¹ Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
² BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
³ BC Women's Health Research Institute, Vancouver, British Columbia, Canada.

PMID: 35128755
DOI: 10.1002/jgc4.1558

Abstract

Genome-wide (exome or genome) sequencing (GWS) has the potential to detect incidental findings (IFs): variants unrelated to the primary indication for testing that may be of medical or personal utility. As GWS becomes increasingly common in clinical practice, it is important to understand the impact of IFs on the individuals and their families. Our goal was to explore the immediate and long-term lived experience of individuals who received IFs as part of diagnostic GWS. We interviewed parents who received an IF as part of the CAUSES translational research study at Children's and Women's Health Centre of British Columbia. Five hundred families were offered trio-based GWS for their child with a suspected, undiagnosed genetic condition. Nine hundred and one of the 1000 parents chose to find out about IFs and 21 parents received an IF for themselves. Twelve of these parents participated in this study. They were interviewed an average of 2.3 years after the IFs were returned. Thematic analysis of transcribed interviews revealed that the participants' decisions and motivations to receive IFs were influenced by personal values and beliefs and by having a child with a suspected genetic condition. Participants' experiences were also influenced by the type of IF received, having a personal or family history of a related condition, their personal interpretation and perceived utility of the information, and the impact of the IF on other family members. Participants expressed either no regret or mild decisional regret on the Decisional Regret Scale. Two years post results, most participants reported little negative impact from receiving the IF. The utility of the information varied: some reported lifestyle changes and proactive screening, while others felt the information may be more relevant in the future. Understanding the immediate and longer term impact of receiving IFs from GWS can inform both pre- and post-test genetic counseling.

Keywords: Genetic counseling; exome sequencing; genetic counselors; genome sequencing; lived experience; secondary findings.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Child
Exome
Female
Genetic Counseling / methods
Genetic Testing*
Humans
Incidental Findings*
Parents / psychology