Abstract

In FY2018 we have substantially advanced the goals and objectives for the ClinSeq clinical and behavioral project by performing the following ongoing substudies. Randomized controlled trial of return of results As sequencing technology is new, it is important to understand how the medical system can take up this technology. We developed a cost effective web-based return of results platform and tested it in a randomized controlled trial. This study has been completed, analyzed, and three publications have emanated from this. We have also explored participant reactions to variants of uncertain clinical significance. This is a major challenge in genomics and we have completed a trial where we will return variants of unknown significance either above or below the 50% threshold of likelihood of pathogenicity to gauge participant reactions to such variants, and measure their intentions to implement medical care based on these results. Finally, with respect to our new African-American cohort, we have performed a baseline survey of attitudes and intentions, which has been accepted for publication. We are now performing focus groups to explore preferences and intents in a more nuanced way.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAHG200387-06
Application #
9795984
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
6
Fiscal Year
2018
Total Cost
Indirect Cost

  Institution

Name
Human Genome Research
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

Biesecker, Leslie G (2018) Secondary findings in exome slices, virtual panels, and anticipatory sequencing. Genet Med :
Biesecker, B B; Woolford, S W; Klein, W M P et al. (2018) Correction to: PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing. Clin Genet 93:1119
Porter, Kathryn M; Kauffman, Tia L; Koenig, Barbara A et al. (2018) Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Mol Genet Genomic Med 6:898-909
Reid, Allecia E; Taber, Jennifer M; Ferrer, Rebecca A et al. (2018) Associations of perceived norms with intentions to learn genomic sequencing results: Roles for attitudes and ambivalence. Health Psychol 37:553-561
Hellwig, Lydia D; Biesecker, Barbara B; Lewis, Katie L et al. (2018) Ability of Patients to Distinguish Among Cardiac Genomic Variant Subclassifications. Circ Genom Precis Med 11:e001975
Biesecker, Leslie G (2018) Response to Mendelsohn and Sabbadini. Genet Med :
Bush, Lynn W; Beck, Anita E; Biesecker, Leslie G et al. (2018) Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (AC Genet Med 20:169-171
Amendola, Laura M; Berg, Jonathan S; Horowitz, Carol R et al. (2018) The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet 103:319-327
Miller, Ilana M; Lewis, Katie L; Lawal, Tokunbor A et al. (2018) Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes. Genet Med :
Tavtigian, Sean V; Greenblatt, Marc S; Harrison, Steven M et al. (2018) Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med 20:1054-1060

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