New and Noteworthy
Since PhenomeCentral’s initial release, additional features have been
added to facilitate a more efficient matchmaking workflow. Matches for a
specific case are now displayed under a new “Matching Patients” tab,
which initially displays all matches for every candidate gene listed for
that case. These matches can then be prioritized using a number of
filters including the MME node, genotypic/phenotypic scores, case
identifiers, whether a matching case is listed as diagnosed, and whether
a match has already been contacted. The communication history is also
listed for each match, allowing users to view when each match was
contacted by email or manually flag that communication for a match
occurred outside of PhenomeCentral. Each match can be flagged with its
status (i.e. “Saved” for matches of interest and “Rejected” for
matches that were ruled out), and a notes section allows users to record
a summary of any communication that has occurred regarding the match.
Finally, the features added to filter and track matches for an
individual case have also been applied to track larger cohorts within
PhenomeCentral. Each user has access to the “My Matches” table, which
displays matches for all cases where a user has edit privileges
(Figure 1 ).
To make it easier for users to use the portal there is a video series
detailing PhenomeCentral’s functions for effective genotype and
phenotype-driven matchmaking (). The videos provide instructions on how
to register for an account on PhenomeCentral, how to add genotypic and
phenotypic data to a case, how to modify case access permissions for
collaborators, how to review matches for an individual case, and how to
utilize the My Matches table for larger cohorts.
Additional support has also been provided for facilitating matchmaking
connections. While users can still refresh their cases manually to
identify new matches across the MME, cases consented for MME matching
are now re-queried across the full MME network on a weekly basis. A
genetic counselor manually reviews new matches produced by this refresh
each week. Case owners are then sent email notifications for any matches
with their cases that have a high degree of phenotypic and genotypic
similarity.
Finally, as the MME network has expanded to include more rare disease
data repositories, PhenomeCentral has added support to match with these
newer databases. In addition to matching with similar cases in
GeneMatcher and DECIPHER, PhenomeCentral now allows for matching to
occur with cases from seqr (Arachchi et al., 2018), MyGene2
(Chong et al., 2016), and RD-Connect (Thompson et al., 2014). With these
new connections, PhenomeCentral users are now capable of querying over
103,600 cases when making matching requests through the MME
(“Matchmaker Exchange Statistic and Publications,” 2021).