ClinGen and ClinVar Initiatives
The Clinical Genome Resource (ClinGen) initiative and its partnership with the genomic variant database, ClinVar, support precision medicine and research by developing a standardized genomic knowledge base of the clinical relevance of genes and variants. As one of the top clinical lab submitters to ClinVar, GeneDx openly shares our clinical variant database as well as our variant classification evidence and methodology. These submissions help facilitate external efforts to rapidly improve our understanding of key disease areas, including hereditary cancer and cardiology. Our involvement in ClinGen across a breadth of groups further exemplifies our commitment to prioritizing patients’ health, working with clinicians and the genetics community at large, and promoting better understanding of genomic variants. A few of our involvements include:
In addition, GeneDx representatives directly participate in or consult for other ClinGen Working Groups including the Gene Curation, Genomic Variant, Education, Engagement & Counseling, IT Standards and Data Submission, and other Clinical Domain WGs and their sub-groups.
ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles)
GeneDx is a member of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) international consortium. ENIGMA is a consortium primarily focused on determining the clinical significance of sequence variants within the BRCA1 and BRCA2 genes. As an ENIGMA member, GeneDx provides clinical information for IRB approved research studies with the aim of better understanding variants of uncertain significance in genes shown to predispose to breast cancer.
GeneDx participates in the Matchmaker Exchange via GeneMatcher to enable novel disease-gene discovery. As a participant, GeneDx submits all candidate disease genes identified and reported through our XomeDx (Whole Exome Sequencing) testing. These submissions include no patient data and are anonymized. When a promising match is found, we contact the ordering provider to determine if they would like to participate in the exchange of further information. In approximately a year and a half, through GeneMatcher and contact with other external clinicians/researchers, we have had >75 successful collaborations resulting in the publication of >25 novel disease-gene relationships so far. Ultimately, these matches help our patients by increasing the rate of molecular diagnosis at GeneDx and expanding our knowledge of human genetic disease.
GeneReviews is an internationally recognized resource for clinicians and health care providers that summarizes the clinical features, management, genetic counseling recommendations and underlying genetic causes of >680 inherited conditions. Each chapter in GeneReviews is written by one or more experts on the condition, peer reviewed by subject experts, and updated on a regular basis by the author(s). GeneDx has authored GeneReviews chapters on several disorders including congenital ichthyosis and epidermolysis bullosa.
MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium
MSeqDR is the Mitochondrial Disease Sequence Data Resource, a centralized and comprehensive genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations of individual patient phenotypes, genomes, genes, and variants. GeneDx is one of the major collaborators on mitochondrial genome testing, large mito nuclear gene panel testing as well as whole exome testing. GeneDx has contributed GeneDx mtDNA variants to the database; Dr. Renkui Bai, MD, PhD, FACMG, Director of mitochondrial disease testing at GeneDx, is a member of Mitochondrial DNA Expert Review Committee and POLG Expert Review Committee and is involved in curating variants in mitochondrial genome and mito nuclear genes.
National Organization for Rare Disorders (NORD)
For more than 30 years, NORD has provided information and support for patients and families affected with rare diseases. GeneDx has been supporting NORD in raising awareness of rare diseases with activities at the annual Rare Disease Day. In addition, our clinical experts work with NORD’s team of medical writers to provide accurate and detailed disease information for inherited skin disorders.
PLUGS® Pediatric Laboratory Utilization Guidance Service
GeneDx is a member of the PLUGS® (Pediatric Laboratory Utilization Guidance Service) Network, a collaboration of over 60 hospitals and labs leading the movement in lab test stewardship. The PLUGS® mission is to improve test ordering, retrieval, interpretation, and reimbursement, by partnering with adult and pediatric laboratories, reference laboratories, lab IT and healthcare companies, as well as the insurance industry. Sharing similar core values, GeneDx has aligned with PLUGS® to prioritize patients and quality testing services, by advocating for responsible utilization management.
PROMPT (Prospective Registry of Multiplex Testing)
GeneDx encourages patients with genetic variants of clinical or uncertain significance identified through multi-gene panel testing to enroll in the PROMPT registry. PROMPT is a joint effort involving academic medical centers and commercial laboratories, working together to learn more about the genes on multi-gene cancer panels. The main goal of PROMPT is to increase understanding of the cancer risks associated with variants in these genes, which will lead to better medical care for individuals with these types of genetic variants. Participation involves completing an online questionnaire.
Putting Rare Diseases Patients First (PRDPF)
GeneDx partnered with Putting Rare Disease Patients First as part of their webinar series for patients with rare diseases. GeneDx presented information on whole exome sequencing and the role it can play in the diagnosis of patients with rare diseases.
Face2Gene is a proprietary facial analysis technology created by FDNA. We participated in Face2Gene’s 60-Day challenge by donating Whole Exome Sequencing (WES) test vouchers to undiagnosed patients to help improve facial analysis in the rare disease setting; to learn more visit: www.face2gene.com/challenge/
Syndromes Without A Name (SWAN)
GeneDx donated five Whole Exome Sequencing (WES) Trio tests to Syndromes Without a Name (SWAN) on Rare Disease Day (February 29, 2016) as a way to honor our founding principles. Rare Disease Day, which takes place on the last day of February each year, aims to raise awareness about rare and ultra-rare diseases and the impact that they have on patients’ lives.