2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The ClinGen Pharmacogenomics Working Group: Developing a Framework for Gene-Drug Response Clinical Validity

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The ClinGen Pharmacogenomics Working Group is focused on developing a framework for the clinical classification of pharmacogenomics (PGx) genes and variants. The current variant classification criteria recommended by the American College of Medical Genetics and Genomics (ACMG) are not suitable for PGx variants and low penetrant variants associated with complex multigenic disorders. The group aims to create a tiered standard terminology and definitions for the clinical significance of PGx genes and variants. They also want to incorporate pharmacogenomic knowledge into the Clinical Genome Resource (ClinGen) and the ClinVar database.<br /><br />To solicit input and feedback, a user survey was launched in February 2023. Preliminary results from the survey indicate that 90% of respondents believe a centralized resource for pharmacogenomics gene and variant classification would benefit the genomic medicine community. 72% of respondents also agree that a framework of standard terminologies and definitions reflecting clinical significance for PGx variants is necessary.<br /><br />The working group plans to develop a framework for gene-drug response clinical validity and PGx variant classification. This will involve defining appropriate drug response phenotype architecture, establishing evidence requirements for clinical validity, and refining the framework using example gene-drug pairs.<br /><br />The group also aims to establish standards for pharmacogene curation and create an interface to support gene curation activities. They want to involve experts from the pharmacogenomics community and the broader clinical genetics community in the development and validation of this framework.<br /><br />Overall, the ClinGen Pharmacogenomics Working Group is dedicated to developing a comprehensive framework for the clinical classification of PGx genes and variants. This will enhance the interpretation of pharmacogenomic data in clinical settings and contribute to personalized medicine.

Asset Subtitle

Presenting Author - Li Gong, PhD; Co-Author - Clarissa J. Klein, BA; Co-Author - Michelle Whirl-Carrillo, PhD; Co-Author - Stuart A. Scott, PhD, FACMG; Co-Author - Teri E. Klein;

Meta Tag

Methodology

Pharmacogenomics

Co-Author Clarissa J. Klein, BA

Co-Author Michelle Whirl-Carrillo, PhD

Co-Author Stuart A. Scott, PhD, FACMG

Co-Author Teri E. Klein

Presenting Author Li Gong, PhD

Keywords

ClinGen Pharmacogenomics Working Group

pharmacogenomics

clinical classification

PGx genes

PGx variants

variant classification criteria

ACMG

clinical significance

gene-drug response

personalized medicine