Information Technology Support for Clinical Genetic Testing within an Academic Medical Center

Samuel Aronson; Lisa Mahanta; Lei Lei Ros; Eugene Clark; Lawrence Babb; Michael Oates; Heidi Rehm; Matthew Lebo

doi:10.3390/jpm6010004

Information Technology Support for Clinical Genetic Testing within an Academic Medical Center

J Pers Med. 2016 Jan 20;6(1):4. doi: 10.3390/jpm6010004.

Authors

Samuel Aronson^{1

2}, Lisa Mahanta³, Lei Lei Ros^{4

5}, Eugene Clark^{6

7}, Lawrence Babb^{8

9}, Michael Oates^{10

11}, Heidi Rehm^{12

13

14

15}, Matthew Lebo^{16

17

18}

Affiliations

¹ Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. saronson@partners.org.
² Partners HealthCare Research Computing, 65 Landsdowne Street, Cambridge, MA 02139, USA. saronson@partners.org.
³ Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. lmahanta@partners.org.
⁴ Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. lhros@partners.org.
⁵ Partners HealthCare Research Computing, 65 Landsdowne Street, Cambridge, MA 02139, USA. lhros@partners.org.
⁶ Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. ehclark@partners.org.
⁷ Partners HealthCare Research Computing, 65 Landsdowne Street, Cambridge, MA 02139, USA. ehclark@partners.org.
⁸ Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. lbabb@geneinsight.com.
⁹ Partners HealthCare Research Computing, 65 Landsdowne Street, Cambridge, MA 02139, USA. lbabb@geneinsight.com.
¹⁰ Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. mfoates@partners.org.
¹¹ Partners HealthCare Research Computing, 65 Landsdowne Street, Cambridge, MA 02139, USA. mfoates@partners.org.
¹² Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. hrehm@partners.org.
¹³ Department of Pathology, Brigham & Women's Hospital, Boston, MA 02115, USA. hrehm@partners.org.
¹⁴ Department of Pathology, Harvard Medical School, Boston, MA 02115, USA. hrehm@partners.org.
¹⁵ The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. hrehm@partners.org.
¹⁶ Partners HealthCare Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. mlebo@partners.org.
¹⁷ Department of Pathology, Brigham & Women's Hospital, Boston, MA 02115, USA. mlebo@partners.org.
¹⁸ Department of Pathology, Harvard Medical School, Boston, MA 02115, USA. mlebo@partners.org.

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: GIGPAD; GeneInsight; LIMS; LIS; genetic testing process; information technology support.

Abstract

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