Conclusions
PatientMatcher is curated and maintained by Clinical Genomics,
SciLifeLab in collaboration with the Genomic Medicine Center Karolinska
at the Karolinska University Hospital, Stockholm. It is an open-source
solution for clinical laboratories and research facilities who wish to
join the federated MME network as independent nodes. Among the
advantages of administering an independent node there is the control
over the data submitted to the server. National legislation, for
instance, might hinder storing sensitive data on cloud solutions or on
servers located in other geographical areas. In a time of rapidly
increasing genetic data generation, this MME implementation is meant to
provide an easy-to administer tool to collect patient information and
perform extensive comparisons between patients within the internal
database or from external nodes. In order to reach as many users as
possible we have designed a standalone application with customizable
settings to harmonize the matching algorithm and notifications with data
structures and routines present in different host centers. At the same
time, we have established a pipeline where candidate variants or genes
with linked patient phenotypes analyzed using the Scout decision support
solution can be easily shared to the MME. In order to improve the code
and better meet user expectations we look forward to collaborating with
interested third parties to further develop the tool and its underlying
matching algorithms. In conclusion, we look forward to teaming up with
other clinical laboratories to share candidate gene-to-phenotype
associations to contribute to the accelerating disease gene discovery.