2.5 | Follow-up to Matches
Matches are sent to a designated inbox (genematcher@ambrygen.com) which is monitored by research staff who oversee both our rare disease research efforts and recruitment for external research studies. Upon receiving a match notification, all cases with rare variants and consistent genotype in a matched gene of interest are reviewed for clinical overlap. High-level phenotypic data and variant information are shared in a HIPAA-compliant manner with GeneMatcher collaborators to assess the integrity of the match. Ordering providers for cases with consistent matches are contacted by email with a general description of the collaboration, investigator’s contact information, and gene of interest. A second follow-up message to the ordering provider is sent by encrypted email and contains the proband’s identifiable information, variant of interest, and other relevant information, for example, why the alteration did not meet our reporting criteria at the time of the initial report, and therefore there is no documentation of the alteration or if it was not Sanger confirmed. We do not share the clinician or patient’s contact information with the collaborating investigator without consent. Once the connection is established, the clinician works with the family to obtain appropriate consent for inclusion in any resulting work. We continue as a partner to share additional data as requested (Sanger or IGV imaging, testing methodology details), DNA (if available), and additional family testing for variant co-segregation. In certain cases, our laboratory issues research-grade single site analysis reports to document alterations that were not previously reported to aid in the clinician’s discussion with the family.