Stephanie Klinkenberg-Ramirez1, Pamela M Neri1, Lynn A Volk1, Sara J Samaha1, Lisa P Newmark1, Stephanie Pollard1, Matthew Varugheese2, Samantha Baxter3, Samuel J Aronson2, Heidi L Rehm4, David W Bates5. 1. Clinical and Quality Analysis, Partners HealthCare System , Wellesley, MA. 2. Information Systems, Partners HealthCare Personalized Medicine , Cambridge, MA. 3. Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine , Cambridge, MA. 4. Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA; Harvard Medical School, Boston, MA; Brigham and Women's Hospital, Boston, MA. 5. Clinical and Quality Analysis, Partners HealthCare System, Wellesley, MA; Harvard Medical School, Boston, MA; Brigham and Women's Hospital, Boston, MA.
Abstract
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.
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.
Authors: Allison R Wilcox; Pamela M Neri; Lynn A Volk; Lisa P Newmark; Eugene H Clark; Lawrence J Babb; Matthew Varugheese; Samuel J Aronson; Heidi L Rehm; David W Bates Journal: J Am Med Inform Assoc Date: 2013-09-07 Impact factor: 4.497
Authors: Pamela M Neri; Stephanie E Pollard; Lynn A Volk; Lisa P Newmark; Matthew Varugheese; Samantha Baxter; Samuel J Aronson; Heidi L Rehm; David W Bates Journal: J Biomed Inform Date: 2012-04-12 Impact factor: 6.317
Authors: Samuel J Aronson; Eugene H Clark; Lawrence J Babb; Samantha Baxter; Lisa M Farwell; Birgit H Funke; Amy Lovelette Hernandez; Victoria A Joshi; Elaine Lyon; Andrew R Parthum; Franklin J Russell; Matthew Varugheese; Thomas C Venman; Heidi L Rehm Journal: Hum Mutat Date: 2011-03-22 Impact factor: 4.878
Authors: C Sue Richards; Sherri Bale; Daniel B Bellissimo; Soma Das; Wayne W Grody; Madhuri R Hegde; Elaine Lyon; Brian E Ward Journal: Genet Med Date: 2008-04 Impact factor: 8.822
Authors: Heidi L Rehm; Sherri J Bale; Pinar Bayrak-Toydemir; Jonathan S Berg; Kerry K Brown; Joshua L Deignan; Michael J Friez; Birgit H Funke; Madhuri R Hegde; Elaine Lyon Journal: Genet Med Date: 2013-07-25 Impact factor: 8.822
Authors: Gillian C Bell; Kristine R Crews; Mark R Wilkinson; Cyrine E Haidar; J Kevin Hicks; Donald K Baker; Nancy M Kornegay; Wenjian Yang; Shane J Cross; Scott C Howard; Robert R Freimuth; William E Evans; Ulrich Broeckel; Mary V Relling; James M Hoffman Journal: J Am Med Inform Assoc Date: 2013-08-26 Impact factor: 4.497
Authors: Teri A Manolio; Rex L Chisholm; Brad Ozenberger; Dan M Roden; Marc S Williams; Richard Wilson; David Bick; Erwin P Bottinger; Murray H Brilliant; Charis Eng; Kelly A Frazer; Bruce Korf; David H Ledbetter; James R Lupski; Clay Marsh; David Mrazek; Michael F Murray; Peter H O'Donnell; Daniel J Rader; Mary V Relling; Alan R Shuldiner; David Valle; Richard Weinshilboum; Eric D Green; Geoffrey S Ginsburg Journal: Genet Med Date: 2013-01-10 Impact factor: 8.822
Authors: Samuel J Aronson; Eugene H Clark; Matthew Varugheese; Samantha Baxter; Lawrence J Babb; Heidi L Rehm Journal: Genet Med Date: 2012-04-05 Impact factor: 8.822
Authors: Kalotina Machini; Ozge Ceyhan-Birsoy; Danielle R Azzariti; Himanshu Sharma; Peter Rossetti; Lisa Mahanta; Laura Hutchinson; Heather McLaughlin; Robert C Green; Matthew Lebo; Heidi L Rehm Journal: Am J Hum Genet Date: 2019-06-27 Impact factor: 11.025
Authors: Nick Dragojlovic; Kennedy Borle; Nicola Kopac; Ursula Ellis; Patricia Birch; Shelin Adam; Jan M Friedman; Amy Nisselle; Alison M Elliott; Larry D Lynd Journal: Genet Med Date: 2020-06-24 Impact factor: 8.822
Authors: Agnes Sebastian; June C Carroll; Leslie E Oldfield; Chloe Mighton; Salma Shickh; Elizabeth Uleryk; Yvonne Bombard Journal: Genet Med Date: 2021-01-08 Impact factor: 8.822
Authors: Ingrid A Holm; Pankaj B Agrawal; Ozge Ceyhan-Birsoy; Kurt D Christensen; Shawn Fayer; Leslie A Frankel; Casie A Genetti; Joel B Krier; Rebecca C LaMay; Harvey L Levy; Amy L McGuire; Richard B Parad; Peter J Park; Stacey Pereira; Heidi L Rehm; Talia S Schwartz; Susan E Waisbren; Timothy W Yu; Robert C Green; Alan H Beggs Journal: BMC Pediatr Date: 2018-07-09 Impact factor: 2.125