Ongoing Collaborations

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.

Deciphering Developmental Disorders (DDD) study

We are working with the DDD study to pool our neurodevelopmental exome cases and expertise to (i) identify novel genes and pathways for human genetic diseases and characterizing the associated phenotypes, and (ii) improve informatics and statistical methods to robustly diagnose patients with genetic conditions.

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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.

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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® (Exome Sequencing) testing. Our contributions make up about 25% of all GeneMatcher submissions. GeneDx submissions include no patient data and are anonymized. When a promising match is found, submitters can contact one another to determine if they would like to participate in the exchange of further information for the purposes of research, publication, or patient management. Since 2015, through GeneMatcher and contact with other external clinicians/researchers, GeneDx has had thousands of gene matches, hundreds of successful collaborations, and more than 50 publications of new disease-causing genes. 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.

Georgia Center for Cancer Statistics and Cancer Registry of Greater California – Genetic Testing Determination

GeneDx partnered with the Georgia/California SEER (Surveillance, Epidemiology, and End Results) Program of the National Cancer Institute to link results of genetic testing to SEER data for patients diagnosed with breast cancer through an industry-SEER partnership. SEER collects and publishes cancer incidence and survival data from national population-based cancer registries.

IHope Network

GeneDx is a member of Illumina’s iHope Network, a philanthropic effort which provides clinical whole genome sequencing (WGS) services at no cost to patients whose clinical features are believed to be genetic in origin and who do not have the financial means to pay for this testing.

Inherited Cancer Registry (ICARE)

The Inherited Cancer Registry (ICARE) is a research registry based at Vanderbilt University Medical Center for individuals at high risk for inherited cancer predisposition. GeneDx partnered with Vanderbilt University Medical Center to invite PALB2 positive patients to enroll into ICARE to contribute to PALB2-focused research efforts: 1) to determine the best treatment for women with a PALB2 mutation and breast cancer; and 2) to refine cancer risks among individuals and families with a PALB2 mutation. For more information, please visit or contact the study team directly by phone (615-875-2444) or email (

InSiGHT (International Society for Gastrointestinal Hereditary Tumors)

GeneDx participates in the InSiGHT variant interpretation committee focused on the curation of variants in genes predisposing to gastrointestinal cancers. InSiGHT is an international multidisciplinary scientific organization primarily focused on improving the quality of care of patients and families with any hereditary condition resulting in gastrointestinal tumors.

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.

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MyCode Community Health Initiative

The MyCode Community Health Initiative is a precision medicine project at the Geisinger Health System. As part of this initiative, all participants undergo exome sequencing in a research laboratory. A clinical infrastructure has been developed to return results to MyCode research participants in those cases where this information could prevent or identify disease at an earlier stage or alter treatments (i.e., medically actionable results). GeneDx provides confirmatory testing in our CLIA/CAP certified molecular laboratory, variant interpretations and cascade genetic testing (testing of at-risk relatives) for the MyCode Community Health Initiative.


MyGene2 is a portal through which families with rare genetic conditions who are interested in sharing their health and genetic information can connect with other families, clinicians, and researchers. GeneDx is able to aid consenting patients in setting up an account and transmitting molecular and clinical information to the patient account.

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My Gene Team

GeneDx collaborates with MyGeneTeam to better serve patients by improving access to genetic counseling services where they are otherwise unavailable. MyGeneTeam includes over thirty board-certified/eligible genetic counselors with broad expertise and experience in clinical genetics. Upon request by healthcare providers, MyGeneTeam can provide pre- and post-test patient counseling for a variety of specialties including reproductive genetics, hereditary cancer, cardiogenetics, ophthalmology genetics, neurogenetics and clinical genomics, including clinical exome sequencing and rare disorders. In addition, MyGeneTeam is able to provide support and expertise in areas such as provider consultation, test utilization management and variant interpretation. Please visit to learn more. Information about local genetic counseling services is also available at

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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.

Radboud University Medical Center, Nijmegen, The Netherlands

GeneDx and Radboud University Medical Center aim to identify novel genes and pathways to help understand the causes, clinical characteristics, and eventual management of human genetic diseases. Additionally, the project will improve informatics and statistical methods to robustly and rapidly diagnose patients with genetic conditions.

The Georgia- California SEER Genetic Testing Linkage Initiative

The Georgia- California SEER Genetic Testing Linkage Initiative has combined results from germline genetic testing to standardized clinical data from SEER regional cancer registries for all women diagnosed with breast cancer or ovarian cancer in the states of Georgia and California from 2013 through 2017 (N=205,000). This dataset will serve as a foundation for research addressing patterns of germline testing and results, the relationship of test results with treatments and health outcomes, and communication and decision-making about hereditary cancer risk in patients and their families. The collaboration and data infrastructure serve as an important demonstration for the potential expansion of the linkage to the nation-wide SEER program. The Initiative is a collaboration between commercial genetic testing laboratories including GeneDx Inc., clinical investigators, the directors of the SEER registry programs of Georgia and California and the NCI Surveillance Research Program.

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The Personal Genome Sequencing Outcomes (PeopleSeq) Consortium

GeneDx is participating in the Personal Genome Sequencing Outcomes Study (PeopleSeq), which is one of the first large-scale studies to examine the experiences, attitudes, and outcomes of healthy adults who have pursued personal genomic sequencing. Knowledge gained through this study may play an integral role in shaping the future of genomic sequencing practice and policy.

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