Webinar: Supporting Genomics in the Practice of Medicine

With the plummeting cost of sequencing, genetic data is becoming increasingly available for use in the diagnosis, treatment and prediction of disease. However, integrating genetic information into the practice of medicine in a robust and effective manner is challenging at every step from sequencing to clinical care.

Disease-targeted panels, exome and genome sequencing are all clinically available services and require careful weighing of the benefits and limitations of each approach.

Most challenging is the interpretation of the variants identified in each test.

Clinical laboratories and treating clinicians have become inundated with genomic variants with little support for their interpretation. Critical to variant analysis is access to existing knowledge on previously reported variants. Hundreds of thousands of disease-causing variants have been identified in patients with disease, yet only a small fraction of that data, and the interpretation of it, has been accessible to researchers and clinicians.

The centralization of data on human genomic variation is a critical step in accelerating advances within the field of genomic medicine.

To address this need, the NIH-funded Clinical Genome Resource program (ClinGen) is developing interconnected resources for the community to improve our understanding of genomic variation and optimize its use in genomic medicine through the NCBI ClinVar database, a site for deposition and retrieval of variant data and annotations.

This talk outlined the current landscape of genomics in the practice of medicine and how resources such as ClinVar can be utilized for variant assessment and reporting through clinical interpretation systems.

Heidi L. Rehm, PhD, FACMG is the Chief Laboratory Director at Partners’ Laboratory for Molecular Medicine and Associate Professor of Pathology at Brigham & Women’s Hospital and Harvard Medical School. The lab focuses on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. The laboratory has been a leader in translational medicine, launching the first clinical tests for cardiomyopathy and lung cancer treatment. The lab offers whole genome sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects. Dr. Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics. Dr. Rehm is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource Program) to support broad sharing of genotype and phenotype data and clinical annotations of genes and variants. Dr. Rehm also directs the Clinical Molecular Genetics training program at Harvard Medical School and conducts research in hearing loss, Usher syndrome, cardiomyopathy, healthcare IT and genomic medicine. Dr. Rehm serves on Knome’s Clinical and Scientific Advisory Board.