Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician-Friendly Laboratory Report

Ira M. Lubin^*, Margaret M. McGovern, Zoe Gibson^*, Susan J. Gross, Elaine Lyon^¶, Roberta A. Pagon^||, Victoria M. Pratt^**, Jamila Rashid, Colleen Shaw^*, Lander Stoddard, Tracy L. Trotter, Marc S. Williams^¶¶, Jean Amos Wilson^|||| and Kenneth Pass^***

From the Division of Laboratory Systems, * the Office of the Chief Science Officer, and the Coordinating Center for Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia; the Department of Human Genetics, Mount Sinai School of Medicine, New York, New York; the Association for Prevention Teaching and Research, Washington DC; the Albert Einstein College of Medicine, New York, New York; ARUP Laboratories and University of Utah, ^¶ Salt Lake City, Utah; the Department of Pediatrics, ^|| University of Washington School of Medicine, Seattle, Washington; the Quest Diagnostics/Nichols Institute, ** Chantilly, Virginia; San Ramon Valley Primary Care, San Ramon, California; the Clinical Genetics Institute, ^¶¶ Intermountain Healthcare, Salt Lake City, Utah; the Genetic Services Laboratory, ^|||| Sequenom Incorporated, San Diego, California; and the Wadsworth Center, *** New York State Department of Health, Albany, New York

The use of molecular genetic tests for heritable conditionsis expected to increase in medical settings, where genetic knowledgeis often limited. As part of a project to improve the clarityof genetic test result reports to minimize misunderstandingsthat could compromise patient care, we sought input about formatand content from practicing primary care clinicians. In facilitatedworkgroup discussions, clinicians from pediatric, obstetrics-gynecology,and family practice provided their perspectives about moleculargenetic testing with a focus on the laboratory reporting oftest results. Common principles for enhancing the readabilityand comprehension of test result reports were derived from thesediscussions. These principles address the presentation of patient-and test-specific information, the test result interpretation,and guidance for future steps. Model test result reports forDNA-based cystic fibrosis testing are presented that were developedbased on workgroup discussions, previous studies, and professionalguidelines. The format of these model test reports, which areapplicable to a variety of molecular genetic tests, should beuseful for communicating essential information from the laboratoryto health care professionals.