AMIA Jt Summits Transl Sci Proc. 2018 May 18;2017:152-159. eCollection 2018.
Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research.
Madhavan S1, Ritter D1, Micheel C2, Rao S1, Roy A3, Sonkin D4, Mccoy M1, Griffith M5, Griffith OL5, Mcgarvey P1, Kulkarni S3.
In the last 3-5 years, there has been a rapid increase in clinical use of next generation sequencing (NGS) based cancer molecular diagnostic (MolDx) testing to develop better treatment plans with targeted therapies. To truly achieve precision oncology, it is critical to catalog cancer sequence variants from MolDx testing for their clinical relevance along with treatment information and patient outcomes, and to do so in a way that supports large-scale data aggregation and new hypothesis generation. Through the NIH-funded Clinical Genome Resource (ClinGen), in collaboration with NLM's ClinVar database and >50 academic and industry based cancer research organizations, a Minimal Variant Level Data (MVLD) framework to standardize reporting and interpretation of drug associated alterations was developed. Methodological and technology development to standardize and map MolDx data to the MVLD standard are presented here. Also described is a novel community engagement effort through disease-focused taskforces to provide usecases for technology development.