2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-The Brotman Baty Institute Clinical Variant Database (BBI-CVD)

Pdf Summary

The Brotman Baty Institute Clinical Variant Database (BBI-CVD) is a registry database that contains electronic health record (EHR)-linked clinical germline genetic variant information from patients with rare genetic disorders. It was developed to facilitate collaboration between clinicians and researchers in the field of precision medicine. The database is freely available to all researchers to improve biomedical research into rare diseases.<br /><br />The database captures demographic, clinical testing indication, and genetic variant level information for all types of germline genetic testing. The data is divided into three categories: demographic, clinical, and genetic. The database features a web-based data explorer to present tier 2 data. Researchers can access the BBI-CVD by filling out a survey or emailing the team. The project was supported by the Brotman Baty Institute for Precision Medicine.<br /><br />The accompanying figures show charts and graphs from the lite version and full version of the data explorer. The figures display the general overview of the database, the most common clinical indications for genetic testing, the most common forms of cancers for which genetic testing was sent, the most common variant classifications, and genes with the most reportable variants.<br /><br />Overall, the Brotman Baty Institute Clinical Variant Database is a valuable resource for researchers studying rare genetic disorders. It provides access to EHR-linked clinical germline genetic variant information and aims to improve collaboration between clinicians and researchers in the field of precision medicine.

Asset Subtitle

Presenting Author - Andrew Folta, BA; Co-Author - Fuki M. Hisama, MD, FACMG, FAAN; Co-Author - Andrew B. Stergachis, M.D., Ph.D; Co-Author - Marianne E. Dubard-Gault, MD, MS; Co-Author - Adriana Sedeno Cortes, MS; Co-Author - Lauren Santos, MS; Co-Author - Martha Horike-Pyne, MPH;

Meta Tag

Databases

Genetic Testing

Co-Author Fuki M. Hisama, MD, FACMG, FAAN

Co-Author Andrew B. Stergachis, M.D., Ph.D

Co-Author Marianne E. Dubard-Gault, MD, MS

Co-Author Adriana Sedeno Cortes, MS

Co-Author Lauren Santos, MS

Co-Author Martha Horike-Pyne, MPH

Presenting Author Andrew Folta, BA

Keywords

Brotman Baty Institute Clinical Variant Database

registry database

electronic health record

EHR-linked clinical germline genetic variant information

rare genetic disorders

precision medicine

collaboration

demographic data

clinical data

genetic data