Online Program

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

Tuesday, November 5, 2013

Marian Reiff, PhD MSc, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
Rebecca Mueller, MS, CGC, Department of cancer genetics, Penn Medicine, Philadelphia, RI
Surabhi Mulchandani, MS, CGC, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA
Nancy Spinner, PhD, FACMG, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA
Barbara Bernhardt, MS, CGC, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA
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.

Learning Areas:

Clinical medicine applied in public health
Other professions or practice related to public health
Planning of health education strategies, interventions, and programs
Social and behavioral sciences
Systems thinking models (conceptual and theoretical models), applications related to public health

Learning Objectives:
Describe perspectives of healthcare providers regarding the use of genome-wide testing in their clinical practice. Evaluate opinions of healthcare providers regarding informed consent and disclosure of results of genome-wide testing. Identify challenges for healthcare providers in providing adequate pre-test informed consent and post-test follow-up for incidental findings and uncertain test results. Discuss potential policies to address challenges in providing adequate informed consent and follow-up. Formulate interventions to improve the communication of genomic information in the context of clinical practice.

Keyword(s): Genetics, Communication

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: Dr Reiff is Senior Researcher Investigator at UPenn Center for the Integration of Genetic Healthcare Technologies. She has a PhD. in Sociomedical Sciences (Columbia University), a Master’s in social work and social policy (London School of Economics), and training in anthropology and public health. She specializes in mixed-method research, investigating the cultural contexts of health and medicine, and currently is PI on a study exploring experiences of families having genome-wide testing for Autism Spectrum Disorders.
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.