The Genetics Navigator: Evaluating a Digital Platform for Genomics Health Services

Summary

Genetic testing (GT) (including targeted panels, exome and genome sequencing) is increasingly being used for patient care as it improves diagnosis and health outcomes. In spite of these benefits, genetic testing is a complex and costly health service. This results in unequal access, increased wait times and inconsistencies in care. The use of e-health tools to support genetic testing delivery can result in a better patient experience and reduced distress associated with waiting for results and empower patients to receive and act on medical results. We have previously developed and tested an interactive, adaptable and patient-centred digital decision support tool (Genetics ADvISER) to be used for genetic testing decision making, and have now developed the Genetics Navigator (GN), a patient-centred e-health navigation platform for end-to-end genetic service delivery. The objective of this study is to evaluate the effectiveness of the GN in an RCT in reducing distress with patients and parents of patients being offered genetic testing. Results of this trial will be used to establish whether the GN is effective to use in practice. If effective, GN could fill a critical clinical care gap and improve health outcomes and service use by reducing counselling burden as well as overuse, underuse and misuse of services. These are concerns policy makers seek to address through the triple aims of health care1. This study represents a significant advance in personalized health by assessing the effectiveness of this novel, comprehensive e-health platform to ultimately improve genetic service delivery, accessibility, patient experiences, and patient outcomes.

Conditions

• Retinal Disease
• Cardiac Conditions
• Connective Tissue Diseases
• Epilepsy in Children
• Neurodevelopmental Disorders
• Cancer
• Polyposis

Interventions

BEHAVIORAL

Genetics Navigator

The Genetics Navigator will be used to support patients during the delivery of genetic services, including intake, education, pre- and post-test counselling, and physician-generated management recommendations

BEHAVIORAL

Standard Care with Genetics Professionals

Standard care for the delivery of genetic services, including receiving genetic counselling and test results

Sponsors & Collaborators

• Unity Health Toronto

  lead OTHER

Principal Investigators

• Yvonne Bombard, PhD · St. Michael's Hospital and University of Toronto

• Robin Hayeems, PhD · The Hospital for Sick Children and University of Toronto

Study Design

Allocation

RANDOMIZED

Purpose

HEALTH_SERVICES_RESEARCH

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2025-10-28

Primary Completion

2027-03-31

Completion

2027-07-31

Countries

• Canada

Study Locations