Appl Clin Inform 2016; 07(02): 461-476
DOI: 10.4338/ACI-2015-11-RA-0162
Research Article - H3IT Special Topic
Schattauer GmbH

Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates

Stephanie Klinkenberg-Ramirez
1  Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA
,
Pamela M. Neri
1  Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA
,
Lynn A. Volk
1  Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA
,
Sara J. Samaha
1  Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA
,
Lisa P. Newmark
1  Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA
,
Stephanie Pollard
1  Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA
,
Matthew Varugheese
2  Information Systems, Partners HealthCare Personalized Medicine, Cambridge, MA
,
Samantha Baxter
3  Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA
,
Samuel J. Aronson
2  Information Systems, Partners HealthCare Personalized Medicine, Cambridge, MA
,
Heidi L. Rehm
3  Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA
4  Harvard Medical School, Boston, MA
5  Brigham and Women’s Hospital, Boston, MA
,
David W. Bates
1  Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA
4  Harvard Medical School, Boston, MA
5  Brigham and Women’s Hospital, Boston, MA
› Author Affiliations
The authors would like to thank the participants across the multiple clinic and laboratory sites who gave freely of their time to assist in this evaluation. This work was supported by the National Institutes of Health Challenge Grants and Partnerships as part of the American Recovery and Reinvestment Act of 2009. The project described was supported by Award Number RC1LMO10526 from the National Library of Medicine. The content is solely the responsibility of the authors and do not necessarily represent the official views of the National Library of Medicine or the National Institutes of Health.
Further Information

Correspondence to:

Pamela Neri
Clinical Quality Analysis
Partners HealthCare System
93 Worcester Street
Wellesley
MA 02481
Phone: 781-416-8542   
Fax: 781-416-8771   

Publication History

received: 24 November 2015

accepted: 21 March 2016

Publication Date:
16 December 2017 (online)

 

Summary

Background

Partners HealthCare Personalized Medicine developed GeneInsight Clinic (GIC), a tool designed to communicate updated variant information from laboratory geneticists to treating clinicians through automated alerts, categorized by level of variant interpretation change.

Objectives

The study aimed to evaluate feedback from the initial users of the GIC, including the advantages and challenges to receiving this variant information and using this technology at the point of care.

Methods

Healthcare professionals from two clinics that ordered genetic testing for cardiomyopathy and related disorders were invited to participate in one-hour semi-structured interviews and/ or a one-hour focus group. Using a Grounded Theory approach, transcript concepts were coded and organized into themes.

Results

Two genetic counselors and two physicians from two treatment clinics participated in individual interviews. Focus group participants included one genetic counselor and four physicians.

Analysis resulted in 8 major themes related to structuring and communicating variant knowledge, GIC’s impact on the clinic, and suggestions for improvements. The interview analysis identified longitudinal patient care, family data, and growth in genetic testing content as potential challenges to optimization of the GIC infrastructure.

Discussion

Participants agreed that GIC implementation increased efficiency and effectiveness of the clinic through increased access to genetic variant information at the point of care.

Conclusion

Development of information technology (IT) infrastructure to aid in the organization and management of genetic variant knowledge will be critical as the genetic field moves towards whole exome and whole genome sequencing. Findings from this study could be applied to future development of IT support for genetic variant knowledge management that would serve to improve clinicians’ ability to manage and care for patients.

Citation: Klinkenberg-Ramirez S, Neri PM, Volk LA, Samaha SJ, Newmark LP, Pollard S, Varugheese M, Baxter S, Aronson SJ, Rehm HL, Bates DW. Evaluation: A qualitative pilot study of novel information technology infrastructure to communicate genetic variant updates.


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Conflicts of Interest

This research was conducted at Brigham and Women’s Hospital, which is an affiliated entity of Partners HealthCare. Partners HealthCare licensed the GeneInsight technology involved in this study in November 2012, to a company in which both Partners Healthcare and Sunquest currently have ownership interests. The Committee on Conflicts of Interest reviewed this research in light of Partners acquisition of this financial interest, and the committee, consistent with Partners policy, required that notice of Partners financial interest in the technology be provided to journals and in publications and presentations resulting from the research. No authors had personal financial interest in the GeneInsight technology beyond that associated with being employed by Partners Healthcare.


Correspondence to:

Pamela Neri
Clinical Quality Analysis
Partners HealthCare System
93 Worcester Street
Wellesley
MA 02481
Phone: 781-416-8542   
Fax: 781-416-8771