title: Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
abstract: Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence to these recommendations is completely voluntary and does not necessarily assure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed toward obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.To promote standardized reporting of actionable information from clinical genomic sequencing, in 2013, the American College of Medical Genetics and Genomics (ACMG) published a minimum list of genes to be reported as incidental or secondary findings. The goal was to identify and manage risks for selected highly penetrant genetic disorders through established interventions aimed at preventing or significantly reducing morbidity and mortality. The ACMG subsequently established the Secondary Findings Maintenance Working Group to develop a process for curating and updating the list over time. We describe here the new process for accepting and evaluating nominations for updates to the secondary findings list. We also report outcomes from six nominations received in the initial 15 months after the process was implemented. Applying the new process while upholding the core principles of the original policy statement resulted in the addition of four genes and removal of one gene; one gene did not meet criteria for inclusion. The updated secondary findings minimum list includes 59 medically actionable genes recommended for return in clinical genomic sequencing. We discuss future areas of focus, encourage continued input from the medical community, and call for research on the impact of returning genomic secondary findings.Genet Med 19 2, 249-255.
authors.affiliation: Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Sarah S
authors.identifier: 0000-0003-1725-3445
authors.initials: SS
authors.lastname: Kalia
authors.affiliation: Patient advocate, Livermore, California, USA.
authors.forename: Kathy
authors.initials: K
authors.lastname: Adelman
authors.affiliation: GeneDx, Inc., Gaithersburg, Maryland, USA.
authors.forename: Sherri J
authors.initials: SJ
authors.lastname: Bale
authors.affiliation: Department of Pediatrics, Columbia University, New York, New York, USA.|Department of Medicine, Columbia University, New York, New York, USA.
authors.forename: Wendy K
authors.identifier: 0000-0003-3438-5685
authors.initials: WK
authors.lastname: Chung
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Eng
authors.affiliation: Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
authors.forename: James P
authors.initials: JP
authors.lastname: Evans
authors.affiliation: Institute for Genomic Medicine, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, Ohio, USA.
authors.forename: Gail E
authors.initials: GE
authors.lastname: Herman
authors.affiliation: Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.
authors.forename: Sophia B
authors.identifier: 0000-0002-1073-2534
authors.initials: SB
authors.lastname: Hufnagel
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Palo Alto, California, USA.
authors.forename: Teri E
authors.identifier: 0000-0001-5527-6475
authors.initials: TE
authors.lastname: Klein
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
authors.forename: Bruce R
authors.identifier: 0000-0001-8272-339X
authors.initials: BR
authors.lastname: Korf
authors.affiliation: Department of Genetics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.|Department of Family Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
authors.forename: Kent D
authors.identifier: 0000-0001-9612-2368
authors.initials: KD
authors.lastname: McKelvey
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Palo Alto, California, USA.
authors.forename: Kelly E
authors.identifier: 0000-0002-1033-0818
authors.initials: KE
authors.lastname: Ormond
authors.affiliation: Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.
authors.forename: C Sue
authors.initials: CS
authors.lastname: Richards
authors.affiliation: Department of Pathology, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
authors.forename: Christopher N
authors.identifier: 0000-0001-9359-9371
authors.initials: CN
authors.lastname: Vlangos
authors.affiliation: American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.
authors.forename: Michael
authors.identifier: 0000-0001-7568-0803
authors.initials: M
authors.lastname: Watson
authors.affiliation: Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.
authors.forename: Christa L
authors.initials: CL
authors.lastname: Martin
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
authors.forename: David T
authors.identifier: 0000-0003-1060-1945
authors.initials: DT
authors.lastname: Miller
mesh_terms: D059472:Exome / Q000235:genetics; D005820:Genetic Testing / Q000592:standards*; D005826:Genetics, Medical / Q000592:standards*; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics; D006801:Humans; D000073359:Exome Sequencing