Case Review

Criteria Guidelines

The identification of novel variants and genes is the fundamental goal of the Broad CMG. Our case review process is designed to select cases that will give us the best chance for gene discovery given available resources. 

Various factors are considered when prioritizing cases to accept, including cases with:

• Likely Mendelian cause
• Participants are consented for General Research Use or Health/Medical/Biomedical research. No other restrictions may apply to the data use
• High quality DNA is available
• Detailed phenotype data is available and can be shared with the consortium
• Data is shared with the GREGoR consortium and through NHGRI's controlled access repository AnVIL without an embargo period. 

Cohort Prioritization: 

• Prior testing for known genetic causes
• Likely recessive or de novo dominant genetic inheritance (no small dominant families) 
• Multiple affected family members available for testing (trios preferred)
• Samples from an under-represented population 
• Samples from a disease relevant tissue for RNA-seq (typically muscle or fibroblasts) 
• Participants are available to recontact for additional information
• External resources available for CLIA confirmation and return of results 



Start Cohort Application

To initiate an application for sequencing with the CMG, we ask that you first fill out the case review form, which consists of entering information about the cohort and regulatory requirements.

Cohort Review
The form will guide you to describe your cohort, explain the existing information about the genetic architecture, and provide the number of available samples. Our case review team will review this form and notify you if the cohort is a good fit for CMG.

Regulatory Review
This form will also initially require the following documents. Previews of regulatory documents are available below.

Collaborator Agreement

Template Informed Consent Form

Material Transfer Agreement - The Broad does not require an MTA in order to receive samples. If your institution requires that an MTA to be put in place, please provide us with a template for your institutution.

Research Attestation (International)
We need to establish that your institution authorizes sending samples to the Broad Institute in the US.  Someone from your institution with signature authority must sign the Research Attestation.  Alternatively, if your institution prefers or requires model clauses, please let us know.