title: Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group.
abstract: The routine use of genomic sequencing in clinical medicine has the potential to dramatically alter patient care and medical outcomes. To fully understand the psychosocial and behavioral impact of sequencing integration into clinical practice, it is imperative that we identify the factors that influence sequencing-related decision making and patient outcomes. In an effort to develop a collaborative and conceptually grounded approach to studying sequencing adoption, members of the National Human Genome Research Institute's Clinical Sequencing Exploratory Research Consortium formed the Outcomes and Measures Working Group. Here we highlight the priority areas of investigation and psychosocial and behavioral outcomes identified by the Working Group. We also review some of the anticipated challenges to measurement in social and behavioral research related to genomic sequencing; opportunities for instrument development; and the importance of qualitative, quantitative, and mixed-method approaches. This work represents the early, shared efforts of multiple research teams as we strive to understand individuals' experiences with genomic sequencing. The resulting body of knowledge will guide recommendations for the optimal use of sequencing in clinical practice.
authors.affiliation: 1] Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA [2] Harvard Medical School, Boston, Massachusetts, USA [3] Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Stacy W
authors.initials: SW
authors.lastname: Gray
authors.affiliation: Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Martins
authors.affiliation: Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Lindsay Z
authors.initials: LZ
authors.lastname: Feuerman
authors.affiliation: 1] Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA [2] Penn Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Bernhardt
authors.affiliation: Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Barbara B
authors.initials: BB
authors.lastname: Biesecker
authors.affiliation: 1] Harvard Medical School, Boston, Massachusetts, USA [2] Department of Medicine, Brigham & Women's Hospital, Boston, Massachusetts, USA.
authors.forename: Kurt D
authors.initials: KD
authors.lastname: Christensen
authors.affiliation: Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Steven
authors.initials: S
authors.lastname: Joffe
authors.affiliation: 1] University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] UNC Lineberger Comprehensive Cancer Center, Chapel Hill, North Carolina, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Rini
authors.affiliation: Department of Pharmacy, Pharmaceutical Outcomes Research and Policy Program, University of Washington, Seattle, Washington, USA.
authors.forename: David
authors.initials: D
authors.lastname: Veenstra
authors.affiliation: Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Amy L
authors.initials: AL
authors.lastname: McGuire
mesh_terms: D035841:Behavioral Research / Q000379:methods*; D003657:Decision Making; D023281:Genomics / Q000379:methods*; D006801:Humans; D054560:National Human Genome Research Institute (U.S.); D017063:Outcome Assessment, Health Care / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods*; D012919:Social Behavior; D014342:Truth Disclosure; D014481:United States