title: Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.
abstract: Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1-2year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health.
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 North Interstate Avenue, Portland, OR 97227, USA. Electronic address: tia.l.kauffman@kpchr.org.
authors.forename: Tia L
authors.initials: TL
authors.lastname: Kauffman
authors.affiliation: Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Department of Pediatrics, University of Washington School of Medicine, 1900 Ninth Ave, Rm 683, Seattle, WA, 98105, USA.
authors.forename: Benjamin S
authors.initials: BS
authors.lastname: Wilfond
authors.affiliation: Department of Medicine, Division of Medical Genetics, University of Washington, Box 357720, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Box 357720, Seattle, WA 98195, USA.
authors.forename: Gail P
authors.initials: GP
authors.lastname: Jarvik
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 North Interstate Avenue, Portland, OR 97227, USA.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Leo
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 North Interstate Avenue, Portland, OR 97227, USA.
authors.forename: Frances L
authors.initials: FL
authors.lastname: Lynch
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 North Interstate Avenue, Portland, OR 97227, USA.
authors.forename: Jacob A
authors.initials: JA
authors.lastname: Reiss
authors.affiliation: Knight Diagnostic Laboratories, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Mail Code MP350, Portland, OR, 97239, USA.
authors.forename: C Sue
authors.initials: CS
authors.lastname: Richards
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 North Interstate Avenue, Portland, OR 97227, USA.
authors.forename: Carmit
authors.initials: C
authors.lastname: McMullen
authors.affiliation: Department of Genome Sciences, University of Washington, Box 357720, Seattle, WA 98195, USA.
authors.forename: Deborah
authors.initials: D
authors.lastname: Nickerson
authors.affiliation: Department of Pathology, University of Washington, Box 357655, 1959 NE Pacific St., Seattle, WA, 98195, USA.
authors.forename: Michael O
authors.initials: MO
authors.lastname: Dorschner
authors.affiliation: Center for Health Research, Kaiser Permanente Northwest, 3800 North Interstate Avenue, Portland, OR 97227, USA.
authors.forename: Katrina A B
authors.initials: KA
authors.lastname: Goddard
mesh_terms: D003657:Decision Making; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling / Q000379:methods; D005820:Genetic Testing; D006801:Humans; D000071066:Patient Reported Outcome Measures; D017060:Patient Satisfaction; D016742:Preconception Care / Q000379:methods*; D036301:Qualitative Research; D011788:Quality of Life; D017422:Sequence Analysis, DNA / Q000379:methods*
keywords: Clinical trial; Genetic testing; Genetics; Genome sequencing; Preconception