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The 5th ELSI Congress - ELSIcon2022

ELSIcon2022 Late-Breaking: Genetics Adviser: The development, usability and acceptability testing of a patient-centered digital health application to support clinical genomic testing


ELSIcon2022 • Networking Session • Late-breaking Abstracts • May 31, 2022

Yvonne Bombard

Background: Increasing demand for genomic testing coupled with workforce shortages has placed unsustainable pressure on standard models of care. Digital health can empower patients and provide scalable solutions to address this gap.

Aim: To transform our original Genomics ADvISER decision aid into a comprehensive patient-centered digital application that will deliver education, counselling, and return of results (RoR) for patients undergoing various form of genomic testing.

Methods: Driven by user-centred design, we developed and tested the application using an iterative, mixed-methods consisting of: 1) consultations with an advisory board of providers and patients; 2) analysis of qualitative interviews with patients who used the original Genomics ADvISER; 3) prototype creation; 4) usability testing ; and 5) acceptability testing.

Results: Prototype development: We created the ‘Genetics Adviser’ designed to be easily adaptable to the needs of different types of patients, tests, settings, and results. It consists of a pre-test module that provides education, pros/cons, FAQs, patient stories/vignettes and results selection. It also includes a check-in module to support users while they wait for results and a RoR function for patients before or after clinical consults. Usability testing with 25 patients, the general public and genetics practitioners showed enthusiasm about the application, found it easy to navigate and comprehend. Acceptance testing with 25 patients and the public has indicated high acceptability (98%) and knowledge (98%). 

Conclusions:  The ‘Genetics Adviser’ is an interactive, patient-centered application to optimize delivery, access and quality of care for pre- and post-test counselling and return of results adaptable to any test, result and setting.


Networking Session
Late-breaking Abstracts
Return of results and incidental findings

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