A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome‐Wide Testing in Pediatric Clinical Practice

Abstract

The utilization of genome-wide chromosomal microarray analysis (CMA) in pediatric clinical practice provides an opportunity to consider how genetic diagnostics is evolving, and to prepare for the clinical integration of genome-wide sequencing technologies. We conducted semi-structured interviews with 15 healthcare providers (7 genetic counselors, 4 medical geneticists, and 4 non-genetics providers) to investigate the impact of CMA on clinical practice, and implications for providers, patients and families. Interviews were analyzed qualitatively using content analysis. Most providers reported that genomic testing enhanced their professional experience and was beneficial to patients, primarily due to the improved diagnostic rate compared with earlier chromosomal studies. Other effects on practice included moving towards genotype-first diagnosis and broadening indications for chromosomal testing. Opinions varied concerning informed consent and disclosure of results. The duty to disclose incidental findings (IFs) was noted; however concerns were raised about potential psychosocial harms of disclosing pre-symptomatic findings. Tensions were revealed between the need for comprehensive informed consent for all families and the challenges of communicating time-consuming and potentially anxiety-provoking information regarding uncertain and incidental findings that may be relevant only in rare cases. Genetic counselors can play an important role in liaising with families, health professionals and testing laboratories, providing education and guidance to non-genetics providers, and enabling families to receive adequate pre- and post-test information and follow-up care.

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

“…Next‐generation sequencing offers knowledge but comes with challenges . Genome‐wide testing produces huge quantities of information, some of which may be uncertain and/or unanticipated, raising ethical concerns about disclosure and stimulating debate regarding how best to integrate such testing into prenatal clinical practice …”

Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders

“…VUS are relatively common findings, but there is little empiric data about the impact of receiving VUS results. Studies suggest that VUSs can cause concern for families if not expected or explained correctly [86–88]. Reiff et al (2012) studied how families understand CMA results using semi-structured interviews with 31 parents of 25 pediatric outpatients who received either pathogenic (n=11) or VUS (n=14) results and found that incomplete comprehension (defined as an individual’s self-reported ability to grasp the meaning of the result) of test results and a need for more information to improve understanding of results were prominent issues for parents [86].…”

“…A survey of 40 physicians found that their comfort levels of explaining CMA results to families were lowest for VUS (score of 3.46 on a 6-point Likert scale with 6 being the highest comfort level) compared to a normal or abnormal result [87]. Physicians also felt that parents did not have a good understanding of CMA results (score of 2.49 on a 6-point Likert scale), despite families reporting a good understanding of CMA results in a prior study by the same group [86–88]. …”

Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice

“…Experts including genetics researchers (Appelbaum et al, 2015; Kleiderman et al, 2015; Middleton et al, 2016; Rahimzadeh, Avard, Senecal, Knoppers, & Sinnett, 2015; Ramoni et al, 2013), genetics health professionals (Brandt et al, 2013; Grove, Wolpert, Cho, Lee, & Ormond, 2014; Lemke, Bick, Dimmock, Simpson, & Veith, 2013; Lohn et al, 2013; Middleton et al, 2016; Scheuner et al, 2015; Yu, Harrell, Jamal, Tabor, & Bamshad, 2014), healthcare providers (Reiff et al, 2014; Strong, Zusevics, Bick, & Veith, 2014), and advisory bodies (Fabsitz et al, 2010; Green et al, 2013; Weiner, 2014) have all weighed in with preferences and policy recommendations. These recommendations are varied and have generated much discussion, especially the American College of Medical Genetics and Genomics (ACMG) 2013 recommendation that a minimum list of 56 genetic results deemed medically actionable should always be returned, regardless of patient preference, age (including children), or age of onset (Green et al, 2013).…”