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A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome‐Wide Testing in Pediatric Clinical Practice
Author(s) -
Reiff Marian,
Mueller Rebecca,
Mulchandani Surabhi,
Spinner Nancy B.,
Pyeritz Reed E.,
Bernhardt Barbara A.
Publication year - 2014
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-013-9653-8
Subject(s) - genetic counseling , genetic testing , informed consent , health care , medical genetics , psychosocial , medicine , qualitative research , human genetics , carrier testing , family medicine , nursing , psychology , medical education , psychiatry , genetics , alternative medicine , pathology , pregnancy , social science , fetus , sociology , prenatal diagnosis , gene , economics , biology , economic growth
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.