Working Groups and Reports
The NHGRI Genomic Medicine Working Group is a subcommittee of the National Advisory Council for Human Genome Research. The working group arose from genomic medicine implementation efforts outlined by the 2011 NHGRI Strategic Plan and was initially led by the Disease-Oriented Genomic Medicine Group. The group has organized a series of meetings gathering genomics researchers, clinicians, and other experts from over 40 different institutions, which are involved with the implementation of genomic medicine programs, to discuss issues surrounding the adoption of genomic medicine and form multicenter collaborative pilot projects in translational genomic medicine.
The NHGRI Genomics and Society Working Group was established in 2012 as a working group of the National Advisory Council for Human Genome Research. The mission of the Genomics and Society Working Group is to provide to the NACHGR advice on short- and long-range planning and priority setting for Genomics and Society activities at the Institute, with particular emphasis on the ELSI Research Program in the Division of Genomics and Society.
The Clinical Working Group aims to enable compatible, readily accessible, and scalable approaches for sharing clinical data and linking it with genomic data. Recognizing how much work is already ongoing in this area, the Clinical Working Group seeks not to reinvent the wheel, but rather to add value to existing endeavors.
The Data Working Group concentrates on data representation, storage, and analysis of genomic data, including working with academic and industry leaders to develop approaches that facilitate interoperability.
The Regulatory and Ethics Working Group focuses on ethical, legal and social implications of the Global Alliance, including harmonizing policies and standards, and developing forward-looking consent, privacy procedures, and best-practices in data governance and transparency.
The Security Working Group leads the thinking on the technology aspects of data security, user access control, and audit functions, working to develop or adopt standards for data security, privacy protection, and user/owner access control.
The overarching goal of the Actionability WG is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.
One specific goal of ClinGen is to develop teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants. These clinical domain working groups consist of expert clinicians, clinical laboratory diagnosticians, and researchers who will enlist representatives from community-organized efforts to implement standardized protocols for gene or sequence variant specific annotations of genes related to the specific disease domain.
The Gene Curation Workgroup aims to develop evidence-based methods for evaluating gene-disease associations to support gene curation activities across the ClinGen project.
Chaired by ClinGen investigators Christa Martin, Sharon Plon, and Heidi Rehm, the Genomic Variant WG brings together representatives from the Sequence and Structural Variant communities for focused discussions on resolving discrepancies in variant interpretation and creating consistent curation guidelines. In addition to providing overarching leadership, the Genomic Variant WG promotes synergy among its various task-teams. These task teams are primarily focused on performing variant curation in high priority disease domains, such as: Congenital Muscular Dystrophy, Developmental Delay, Rett syndrome, Angelman syndrome, early infantile epileptic encephalopathy, Mowat-Wilson Syndrome, and the RASopathies.
The ClinGen Phenotype Working Group aims to support the collection and submission of phenotypic data to ClinGen-related resources.
The goal of the GSC Biodiversity Working Group is to promote information and data interoperability between and across the biodiversity and molecular biology research domains. We aim to achieve this by establishing a network of leaders that share these common goals.
The mission of the Genomics and Translational Bioinformatics Working Group (Gen-TBI, formerly the Genomics Working Group) is to facilitate communication, collaboration, training, and networking for researchers working at the interfaces between bio-molecular and clinical data in order to advance the clinical use of genomics data through TBI, thereby furthering the practice of precision medicine.