• NIH Sep 24, 2018 | R01

    Development of recommendations and policies for genetic variant reclassification

    Principal Investigator(s): APPELBAUM, PAUL STUART, CHUNG, WENDY K (contact);

    Institution: COLUMBIA UNIVERSITY HEALTH SCIENCES

    FOA Number: PA-17-444

    Abstract

    Project Narrative Currently, there are marked differences in variant classification among clinical laboratories, and genetic variant classification is currently in flux with improvements in the access to ethnically diverse reference data and new algorithms to predict the pathogenicity of variants. As variants are re-classified over time, there is currently no definitive guidance from professional organizations about how to handle this variant reclassification and who has the duty to re-classify variants and what those obligations are. To provide an empirical foundation for this critical discussion and develop guidance for the field, we will obtain data from 3 key stakeholder groups: patients, providers, and the laboratories and work with an advisory panel of experts including legal, ethics, and economic experts to develop recommendations for policies on variant reclassification.

    FUNDING AGENCY:

    Funder:
    NIH

    Institute:
    NATIONAL HUMAN GENOME RESEARCH INSTITUTE

    Funding Type:
    R01

    Project Number:
    R01HG010365

    Start Date:
    Sep 24, 2018

    End Date:
    Jun 30, 2023

    PROJECT TERMS:

    Address, Adoption, adverse outcome, Advocate, Affect, Agreement, Algorithms, American, Area, Automobile Driving, base, Benign, Caring, Classification, Client, Clinical, clinical decision-making, Clinical Laboratory Improvement Amendments, clinically significant, ClinVar, Communities, Computing Methodologies, Consensus, Consultations, cost, Data, data to knowledge, Databases, design, Development, Diagnosis, Disadvantaged, economic evaluation, economic impact, Economics, Ethical Analysis, Ethical Issues, Ethics, ethnic diversity, ethnic minority population, exome, Family Cancer History, Focus Groups, Foundations, Future, Genes, Genetic, genetic counselor, genetic testing, genetic variant, Genome, genomic data, Genomics, Goals, Guidelines, Health, health economics, Health Personnel, Heart Diseases, Individual, insurance, Laboratories, Legal, Medical, Medical Genetics, medical schools, medical specialties, meetings, Minor, Modeling, Neurologic, Neurologist, Oncologist, operation, Paper, Parents, Pathogenicity, Patients, Physicians, Policies, Positioning Attribute, prevent, Professional Organizations, Provider, racial minority, Recommendation, Recontacts, Reporting, Resolution, risk prediction, Series, Specific qualifier value, Surveys, Test Result, Testing, Time, Update, Variant, whole genome, Work, working group

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