Flype: Software for enabling personalized medicine. Issue 1 (3rd December 2020)

• Record Type: Journal Article
• Authors: 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.
• Other Names: Solomon Benjamin D. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 187:Issue 1(2021)
• Page Start: 37
• Page End: 47
• Publication Date: 2020-12-03
• Subjects: bioinformatics -- clinical decision support -- EMR integration -- personalized medicine -- pharmacogenomics; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31867
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract: 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.