In an article published in Genetics in Medicine, Heidi L. Rehm, Director of the Laboratory for Molecular Medicine at Partners Healthcare Personalized Medicine and Associate Professor of Pathology at Harvard Medical School, calls for the sharing of variant interpretations to advance medicine and improve patient care. Reviewing the progress made over the past five years by ClinVar and other major studies, she highlights the strides than can be made when multiple laboratories collaborate on evaluating the significance of individual genes, assigning categories consistently, and allowing peer review. To that end, Rehm lays out five recommendations for regulators, agencies, providers, laboratories and others. Rehm is a frequent Consortium collaborator – she wrote a major article on improving genomic laboratory practices with Consortium Chair Susan M. Wolf and others. She also spoke about her work to define standards for the interpretation of genomic variants at a lecture hosted by the Consortium in 2015; video of that talk is available here.
This grant provides funds for the Patient-Centered Network of Learning Health Systems (LHSNet) to participate in PCORnet, a unique collaborative designed to link researchers, patient communities, clinicians, and health systems in productive research partnerships that leverage the power of large volumes of health data maintained by the partner networks. LHSNet includes partners across six states and nine academic medical centers, healthcare systems, public health departments and private health plans touching approximately 10 million individual lives, including patients in underserved and rural areas.