Healthcare providers' perspectives on the impact of genome-wide testing on pediatric clinical practice: Implications for informed consent and result disclosure

The introduction of genome-wide chromosomal microarray analysis (CMA) to 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 surveyed 40 physicians (pediatricians, pediatric specialists and geneticists), and interviewed 15 providers (genetic counselors, clinical geneticists, pediatricians, pediatric sub-specialists and nurses) to investigate the impact of CMA on clinical practice, and implications for informed consent. Survey results suggested differences of opinion among physicians regarding (a) pre-test informed consent of the potential for incidental findings (IF”S), and (b) full disclosure of IF's in lab reports (preferred by 59% and 60% of physicians respectively). Qualitative analysis of the interviews revealed tensions between the need for comprehensive informed consent and the time constraints in clinic. Opinions varied concerning the benefits and harms of disclosing IFs. The duty to disclose IF's was noted, however concerns were raised about potential psychosocial harms of disclosing pre-symptomatic findings. 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. Traditional models of informed consent are strained by the quantity and complexity of information that needs to be communicated to patients regarding uncertain results and IF's. We apply public health approaches and system models to formulate potential interventions (e.g., web-based approaches, peer-to-peer support, education, and surveillance) to address novel challenges presented by genomic testing.