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.
Keywords
Clinical informatics applications - clinical decision support - genetics - personalized
medicine - laboratory software