Journal:Information technology support for clinical genetic testing within an academic medical center
| Full article title | Information technology support for clinical genetic testing within an academic medical center |
|---|---|
| Journal | Journal of Personalized Medicine |
| Author(s) | Aronson, Samuel; Mahanta, Lisa; Ros, Lei L.; Clark, Eugene; Babb, Lawrence; Oates, Michael; Rehm, Heidi; Lebo, Matthew |
| Author affiliation(s) | Partners HealthCare, Brigham & Women’s Hospital, Harvard Medical School, Broad Institute of Massachusetts Institute of Technology and Harvard |
| Primary contact | Email: saronson at partners dot org |
| Editors | Liggett, Stephen B. |
| Year published | 2016 |
| Volume and issue | 6 (1) |
| Page(s) | 4 |
| DOI | 10.3390/jpm6010004 |
| ISSN | 2075-4426 |
| Distribution license | Creative Commons Attribution 4.0 International |
| Website | http://www.mdpi.com/2075-4426/6/1/4 |
| Download | http://www.mdpi.com/2075-4426/6/1/4/pdf (PDF) |
Abstract
Academic medical centers require many interconnected systems to fully support genetic testing processes. We provide an overview of the end-to-end support that has been established surrounding a genetic testing laboratory within our environment, including both laboratory and clinician facing infrastructure. We explain key functions that we have found useful in the supporting systems. We also consider ways that this infrastructure could be enhanced to enable deeper assessment of genetic test results in both the laboratory and clinic.
Keywords: genetic testing process, information technology support, LIMS, LIS, GeneInsight, GIGPAD
Introduction
The clinical genetic testing process within an academic medical center involves multiple different groups. Clinicians identify the need for tests and order them. Then, laboratory technicians receive these orders with associated samples and perform the requested assays. The results of these assays are sent to laboratory personnel responsible for interpreting the results and ultimately producing a report that is signed out by a board certified professional. This report is then returned to the clinician who is responsible for assessing how the results should affect the patient’s care. The clinician shares the assessment with the patient and also stores and manages the results over time.<ref name="AronsonBuild15">{{cite journal |title=Building the foundation for genomics in precision medicine |journal=Nature |author=Aronson, S.J.; Rehm, H.L. |volume=
Each of the groups involved in this process requires information technology (IT) support to perform its function in a high quality, efficient manner. This often involves establishing deep support for specific processes. Multiple systems may be needed to meet a group’s needs. In this context, it is important to determine how systems should be integrated across the workflow. The quality of the overall clinical process depends on data transferring in a robust, consistent manner. Figure 1 shows the infrastructure that we have found necessary to support these process flows in the germline genetic testing environment. There are multiple ways this functionality can be implemented. While a complete review of different methods is beyond the scope of this article, we will describe the infrastructure that we have established to support the clinical germline genetic testing processes implemented by our Laboratory for Molecular Medicine (LMM).
Notes
This presentation is faithful to the original, with only a few minor changes to presentation. In several cases the PubMed ID was missing and was added to make the reference more useful.
