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Flype: Software for enabling personalized medicine
Author(s) -
Helseth Donald L.,
Gulukota Kamalakar,
Miller Nicholas,
Yang Mathew,
Werth Tom,
Sabatini Linda M.,
Bouma Mike,
Dunnenberger Henry M.,
Wake Dyson T.,
Hulick Peter J.,
Kaul Karen L.,
Khandekar Janaradan D.
Publication year - 2021
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31867
Subject(s) - variety (cybernetics) , personalized medicine , computer science , data science , pharmacogenomics , genomics , precision medicine , annotation , informatics , translational bioinformatics , personal genomics , health informatics , software , population , world wide web , bioinformatics , genome , medicine , biology , genetics , engineering , artificial intelligence , environmental health , programming language , nursing , gene , electrical engineering , public health
The advent of next generation DNA sequencing (NGS) has revolutionized clinical medicine by enabling wide‐spread testing for genomic anomalies and polymorphisms. With that explosion in testing, however, come several informatics challenges including managing large amounts of data, interpreting the results and providing clinical decision support. We present Flype, a web‐based bioinformatics platform built by a small group of bioinformaticians working in a community hospital setting, to address these challenges by allowing us to: (a) securely accept data from a variety of sources, (b) send orders to a variety of destinations, (c) perform secondary analysis and annotation of NGS data, (d) provide a central repository for all genomic variants, (e) assist with tertiary analysis and clinical interpretation, (f) send signed out data to our EHR as both PDF and discrete data elements, (g) allow population frequency analysis and (h) update variant annotation when literature knowledge evolves. We discuss the multiple use cases Flype supports such as (a) in‐house NGS tests, (b) in‐house pharmacogenomics (PGX) tests, (c) dramatic scale‐up of genomic testing using an external lab, (d) consumer genomics using two external partners, and (e) a variety of reporting tools. The source code for Flype is available upon request to the authors.