NIH PAR-23-171: 2023 Diagnostic Centers of Excellence (X01 Clinical Trial Not Allowed)

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The purpose of this NOFO is to solicit proposals from highly qualified clinical sites in the US to join the Network through an X01 Resource Access Program award. Accepted sites will be designated as a “Diagnostic Center of Excellence (DCoE)” and will be responsible for generating participant clinical, phenotypic and sequencing data to be submitted to the DMCC through a Data Use Agreement with the Center.  X01 recipients will have access to DMCC resources and infrastructure including access to high-quality phenotypic and genotypic data and collaboration with highly skilled physicians, researchers, and bioinformaticians. Using team science, DCoEs will be able to collaborate with Network members to implement strategies that will expand equity and accessto health disparity populations and increase the discovery of new disease-associated genes and genomic variants, immunologic and metabolic abnormalities, as well as environmental insults that are causative in previously undiagnosed patients. DCoEs will be invited to submit their most challenging, unsolved cases for acceptance into the Network, and partner in their evaluation with the Network’s virtual case review committee(s), which will be coordinated by the DMCC.

Successful applicants will demonstrate that they have the appropriate expertise and a track record of diagnosing rare and difficult-to-diagnose disorders, along with the infrastructure and resources needed to conduct the clinical evaluation and DNA sequencing of participants enrolled at their sites. Specifically, applicants will be expected to demonstrate the expertise, independent resources (e.g., institutional support, plans for billing insurance, obtaining support from outside partnerships, etc.), and capacity to:

• Enroll a minimum of 5 participants per year who are accepted into the Network, although some sites may have the capacity to enroll more participants. Typically, only the most difficult, unsolved cases will be accepted into the Network (e.g., those cases requiring specialized, non-routine diagnostic testing procedures or collaboration among a team of clinicians and researchers).
• Perform comprehensive clinical evaluations of undiagnosed participants enrolled at their site including medical record review, routine and specialized diagnostic testing procedures, consultations, and referral to other sites with necessary expertise if appropriate.
• Have the resources (in-house or outsourced) to perform DNA and/or RNA sequencing and re-analysis of existing genome-sequencing data.
• Capability to work with Network data stored in a cloud architecture, such as AnVIL.
• Have the genomics capability including medical genetics and associated informatics expertise needed to identify pathogenic variants from human genomics sequence data. This includes the infrastructure to return genetic results to study participants and provide post-test genetic counseling.
• Demonstrate sufficient clinical metabolomics and other omics expertise to interpret or re-interpret lab and research-grade findings.
• Have sufficient clinical staff to review medical records from applicants (so as to enroll a minimum of five cases per year into the Network) and to rigorously discuss the results to arrive at a diagnosis or to interrogate candidate genes.
• Collect and store DNA, fibroblasts from skin biopsies, and other biological specimens produced by clinical evaluations as needed for the diagnosis.
• Organize incoming records and return results to participants, family members, and referring physicians.
• Support a site coordinator or equivalent position to serve as the DCoE’s point of contact for data sharing, case coordination, collaboration, data retrieval for research projects and patient follow-up.