DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES

Area of Science:

• Genetics
• Bioinformatics
• Clinical Diagnostics

Background:

• Open sharing of clinical genetic data is crucial for monitoring and enhancing the reproducibility of variant interpretation.
• The National Institutes of Health (NIH) ClinVar initiative is a major public data resource with global laboratory and clinic submissions.

Purpose of the Study:

• To analyze the reproducibility of variant interpretation using a subset of ClinVar data.
• To identify challenges and successes in clinical genetic data sharing and interpretation.

Main Methods:

• Analysis of a subset of ClinVar data focusing on specific clinical areas.
• Review of concordance data for commonly tested genes, including BRCA1 and BRCA2.

Main Results:

• High reproducibility (>90% concordance) was observed among clinical testing laboratories for variant interpretation.
• BRCA1 and BRCA2 gene testing demonstrated even higher concordance rates.
• Data fragmentation across different silos was identified as an ongoing challenge.

Conclusions:

• The ClinVar database demonstrates high reproducibility in clinical genetic variant interpretation.
• Addressing data fragmentation is essential for further progress in the field.
• Encouraging contributions from all laboratories and clinics to public data resources is vital.