Browsing by Author "Vassy, Jason L."

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    Identifying End Users' Preferences about Structuring Pharmacogenetic Test Orders in an Electronic Health Record System
    (Elsevier, 2020-10) Hull, Leland E.; Vassy, Jason L.; Stone, Annjanette; Chanfreau-Coffinier, Catherine C.; Heise, Craig W.; Pratt, Victoria M.; Przygodzki, Ronald; Voils, Corrine I.; Voora, Deepak; Wang-Rodriguez, Jessica; Schichman, Steven A.; Scheuner, Maren T.; Medical and Molecular Genetics, School of Medicine
    Pharmacogenetics (PGx) testing can be used for detecting genetic variations that may affect an individual's anticipated metabolism of, or response to, medications. Although several studies have focused on developing tools for delivering results from PGx testing, there is a relative dearth of information about how to design provider-friendly electronic order-entry systems for PGx. The U.S. Department of Veterans Affairs (VA) is preparing to implement a new electronic health records system. In this study, VA PGx test end users were surveyed about their preferences for how electronic test orders for PGx should be structured, including the nomenclature that should be used to search for and identify PGx-test orders, whether to offer single- versus multigene tests, and whether information about test methodology should be included in the order name. Responses were analyzed systematically to identify areas of agreement and disagreement with the survey options, and areas where respondents' opinions diverged. End users endorsed preferences for flexible ways to identify and order PGx tests and multigene panel tests; opinions on whether test methodology should be included in the test name were divergent. The results could be used for both informing the VA's new electronic health records implementation (including how PGx tests are searched for and ordered) and for providing insights for other health systems implementing PGx-testing programs.
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    The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
    (Elsevier, 2019-04-04) Bombard, Yvonne; Brothers, Kyle B.; Fitzgerald-Butt, Sara; Garrison, Nanibaa’ A.; Jamal, Leila; James, Cynthia A.; Jarvik, Gail P.; McCormick, Jennifer B.; Nelson, Tanya N.; Ormond, Kelly E.; Rehm, Heidi L.; Richer, Julie; Souzeau, Emmanuelle; Vassy, Jason L.; Wagner, Jennifer K.; Levy, Howard P.; Medical and Molecular Genetics, School of Medicine
    The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant's clinical significance might be reinterpreted over time as new evidence emerges regarding its pathogenicity or lack thereof. This raises ethical, legal, and financial issues as to whether there is a responsibility to recontact research participants to provide updates on reinterpretations of variants after the initial analysis. There has been discussion concerning the extent of this obligation in the context of both research and clinical care. Although clinical recommendations have begun to emerge, guidance is lacking on the responsibilities of researchers to inform participants of reinterpreted results. To respond, an American Society of Human Genetics (ASHG) workgroup developed this position statement, which was approved by the ASHG Board in November 2018. The workgroup included representatives from the National Society of Genetic Counselors, the Canadian College of Medical Genetics, and the Canadian Association of Genetic Counsellors. The final statement includes twelve position statements that were endorsed or supported by the following organizations: Genetic Alliance, European Society of Human Genetics, Canadian Association of Genetic Counsellors, American Association of Anthropological Genetics, Executive Committee of the American Association of Physical Anthropologists, Canadian College of Medical Genetics, Human Genetics Society of Australasia, and National Society of Genetic Counselors