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.