title: Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.
abstract: Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the results generated may provide information about a patient's health that is unrelated to the clinical indication, commonly referred to as incidental findings. This is a paradigm shift from traditional genetic testing in which testing and reporting are tailored to a patient's specific clinical condition. Clinical laboratories and physicians are wrestling with this increased complexity in genomic testing and reporting of the incidental findings to patients. An enormous amount of discussion has taken place since the release of a set of recommendations from the American College of Medical Genetics and Genomics. This discussion has largely focused on the content of the incidental findings, but the laboratory perspective and patient autonomy have been overlooked. This report by the Association of Molecular Pathology workgroup discusses the pros and cons of next-generation sequencing technology, potential benefits, and harms for reporting of incidental findings, including the effect on both the laboratory and the patient, and compares those with other areas of medicine. The importance of genetic counseling to preserve patient autonomy is also reviewed. The discussion and recommendations presented by the workgroup underline the need for continued research and discussion among all stakeholders to improve our understanding of the effect of different policies on patients, providers, and laboratories.
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia; Emory Genetics Laboratory, Emory University, Decatur, Georgia. Electronic address: mhegde@emory.edu.
authors: Madhuri
authors: M
authors: Hegde
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; GeneDx, Gaithersburg, Maryland.
authors: Sherri
authors: S
authors: Bale
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.
authors: Pinar
authors: P
authors: Bayrak-Toydemir
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Clinical Sciences, University of Central Florida College of Medicine, Orlando, Florida.
authors: Jane
authors: J
authors: Gibson
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, Department of Pathology, and Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland.
authors: Linda Jo Bone
authors: LJ
authors: Jeng
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Chicago, Chicago, Illinois.
authors: Loren
authors: L
authors: Joseph
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Division of Cytogenetics and Molecular Pathology, North Shore Long Island Jewish Health System, New Hyde Park, New York.
authors: Jordan
authors: J
authors: Laser
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Division of Laboratory Programs, Standards, and Services, Centers for Disease Control and Prevention, Atlanta, Georgia.
authors: Ira M
authors: IM
authors: Lubin
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.
authors: Christine E
authors: CE
authors: Miller
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pediatrics, University of Chicago, Chicago, Illinois; MacLean Center for Clinical Medical Ethics, University of Chicago, Chicago, Illinois.
authors: Lainie F
authors: LF
authors: Ross
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York.
authors: Paul G
authors: PG
authors: Rothberg
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia; Emory Genetics Laboratory, Emory University, Decatur, Georgia.
authors: Alice K
authors: AK
authors: Tanner
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; GeneDx, Gaithersburg, Maryland.
authors: Patrik
authors: P
authors: Vitazka
authors: Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.
authors: Rong
authors: R
authors: Mao
mesh_terms: D005817:Genetic Counseling; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D033162:Incidental Findings; D057089:Pathology, Molecular / Q000379:methods*