2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Professionals' Perspectives on the Use of Digital Tools to Support Patient Recontact in Clinical Genetics

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A qualitative descriptive study was conducted to explore the perspectives of Canadian genetics professionals on the implementation of a digital platform for patient recontact in clinical genetics. The study used the Consolidated Framework for Implementation Research (CFIR) as a basis for the research. Semi-structured individual interviews were carried out via Zoom, and the data collected was analyzed using interpretive description. The preliminary results of the study revealed several important findings.<br /><br />Genetics professionals consider patient recontact as an important issue that could be improved by utilizing digital platforms. While there is willingness to integrate these tools into clinical workflows, there are anticipated challenges in their implementation. One barrier identified is the low perceived relative advantage of using a platform to return results. However, this barrier could potentially be turned into a facilitator by adapting the platform to facilitate related administrative tasks, thus improving timeliness and equity of access to genetics services.<br /><br />The study highlights that tension for change is likely to increase as the use of genomic sequencing expands. There is a shift towards shared responsibility and increased patient engagement in clinical genetics, which further underscores the need for effective methods to support the return of updated results. The findings of this study are particularly relevant considering the growing demand for clinical genetics services.<br /><br />The aim of the study was to inform the development of a patient platform that will allow for the return of updated genomic results to patients who have undergone genomic sequencing. The perspectives of genetic counselors, medical geneticists, and laboratory geneticists were explored, and their opinions and recommendations regarding variant reclassification, the use of patient platforms, and barriers to implementation were considered.<br /><br />In conclusion, this study sheds light on the perspectives of genetics professionals regarding the implementation of a digital platform for patient recontact in clinical genetics. The findings underscore the importance of utilizing digital tools to improve patient care, and highlight the need for adaptations to overcome barriers to implementation. The study will inform the development of a patient platform to facilitate the return of updated genomic results.

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Co-Author - Guylaine D'Amours, MDCM, MSc; Co-Author - Emma Reble, MSc; Co-Author - Vernie Aguda, MSc; Co-Author - Marc Clausen, MA; Co-Author - Salma Shickh, MS; Presenting Author - Chloe Mighton, MSc; Co-Author - June C. Carroll, MD; Co-Author - Jordan Lerner-Ellis, PhD; Co-Author - Tanya N. Nelson, PhD; Co-Author - Julie Richer, MD; Co-Author - Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG; Co-Author - Emily Seto, PhD; Co-Author - Serena Shastri-Estrada, M.Sc.CH; Co-Author - Kevin E. Thorpe, MMath; Co-Author - Yvonne Bombard, PhD;

Meta Tag

Public Patient and Professional Education

Ethical Legal and Social Issues

Education

Counseling

Co-Author Yvonne Bombard, PhD

Co-Author Kevin E. Thorpe, MMath

Co-Author Serena Shastri-Estrada, M.Sc.CH

Co-Author Emily Seto, PhD

Co-Author Kasmintan A. Schrader, MBBS, PhD, FRCPC, DABMGG

Co-Author Julie Richer, MD

Co-Author Tanya N. Nelson, PhD

Co-Author Jordan Lerner-Ellis, PhD

Co-Author June C. Carroll, MD

Co-Author Salma Shickh, MS

Co-Author Marc Clausen, MA

Co-Author Vernie Aguda, MSc

Co-Author Emma Reble, MSc

Co-Author Guylaine D'Amours, MDCM, MSc

Presenting Author Chloe Mighton, MSc

Keywords

qualitative descriptive study

digital platform

patient recontact

clinical genetics

genetics professionals

implementation

genomic sequencing

patient engagement

barriers to implementation

patient care