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

NCT ID: NCT06455384

Last Updated: 2025-12-24

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 170 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-10-28
• Study Completion Date: 2027-07-31

Brief 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.

Detailed Description

BACKGROUND: Genetic testing is a catalyst for personalized health. Technologies such as targeted panels and genomic sequencing (GS) are exerting a profound influence on clinical care by ushering personalized medicine into mainstream practice. With substantial improvements in diagnostic performance has come unprecedented demand for genetic testing for a broad range of clinical indications.The volume of testing and complexity of genetic testing analysis places unsustainable pressure on the standard model of care for delivering genetics services, which is heavily dependent on multiple interconnected clinical specialists including medical geneticists, genetic counsellors, clinical laboratory directors, bioinformaticians, and genome analysts based in tertiary care centres. With this increased demand, innovative strategies for increasing capacity and efficiency of genetic service delivery are needed. Our research team has built on our previous preliminary work to develop the Genetics Navigator (GN) to fill this gap. The GN is meant to provide end-to-end support to genomic services and patients who are offered genetic testing. The GN is meant to provide patients with information about genetic testing, help patients make decisions about genetic testing, collect patient history and family history collection before their appointment, and provide genetic test results. The study is interested in comparing the effectiveness of the Genetics Navigator with traditional medical appointments with genetic counsellors and medical geneticists.

RATIONALE: There are limited e-health tools for the delivery of GS. Few e-health tools exist to support the comprehensive delivery of GS and very few have been rigorously evaluated.61 Existing tools target cancer settings,42 education36 or return of results46 but are not integrated to enable a seamless end-to-end patient journey. Consequently, existing tools are limited in scope and scale. Finally, due to the lack of comprehensive e-health tools for GS, little is known about end users' needs for an e-health platform. Understanding end users' needs and requirements are critical to the development of an effective e-health solution for GS health service delivery. Finally, the development of our Genetics Navigator tool represents an innovative strategy to address significant health service delivery barriers and advance the implementation of personalized health by increasing efficiency of genetic service delivery and improving patient experience.

OBJECTIVES AND HYPOTHESIS: Evaluate the effectiveness, cost-effectiveness, and user experience of the Genetics Navigator compared to usual care (standard genetic counselling) with patients and parents of patients receiving genetic testing. Hypothesis: Use of the Genetics Navigator will improve emotional functioning (decrease distress [primary outcome], anxiety, and decisional conflict), knowledge, quality of life, patient empowerment, personal utility, and intention to and actual follow through with management recommendations compared to usual care.

METHOD: This is a non-blinded prospective repeated measures randomized controlled superiority trial where we will evaluate the effectiveness and cost-effectiveness of the Genetics Navigator in reducing patient distress compared to usual care. As a part of this trial, patients will receive genetic test results related to a range of clinical indications. A qualitative sub-study will examine user experience.

STUDY POPULATION:

Trial: Adult genetics patients (aged ≥18 years) at Sinai Health System (Sinai) and parents/legal guardians of pediatric patients at the Hospital for Sick Children (SickKids) who are currently eligible to receive clinical genetic testing, as determined by a medical geneticist.

Qualitative Interviews: We will interview a purposive sample of up to 20 adult patients and 20 parents/ legal guardians in each arm within 6 months of completing their participation.

INTERVENTION: Participants in the intervention arm will use the Genetics Navigator to support the delivery of genetic services, including intake, education, pre- and post-test counselling, and physician-generated management recommendations. The Navigator will be supported by consults with genetics professionals via in-person/phone/video-conferencing.

CONTROL:Participants in the control arm will receive their genetic counselling and test results through usual care, which consists of in-person/phone/video-conference consults with genetic counsellors and medical geneticists.

Conditions

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

Keywords

Genomic Sequencing; Randomized Controlled Trial; Clinical Utility; Personal Utility; Decision Aid; Incidental Findings

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: HEALTH_SERVICES_RESEARCH
• Blinding Strategy: NONE

Study Groups

Genetics Navigator

Participants in the intervention arm will use the Genetics Navigator to support the delivery of genetic services, including intake, education, pre- and post-test counselling, return of results, and physician-generated management recommendations. Participants in the experimental arm will also receive standard of care genetics care.

Group Type: EXPERIMENTAL

Genetics Navigator

Intervention Type: BEHAVIORAL

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

Standard Care with Genetics Professionals

Participants in the control arm will receive their genetic counselling and test results through usual care, which consists of in-person/phone/video-conference consults with genetic counsellors and medical geneticists.

Group Type: ACTIVE_COMPARATOR

Standard Care with Genetics Professionals

Intervention Type: BEHAVIORAL

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

Interventions

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

Intervention Type: BEHAVIORAL

Standard Care with Genetics Professionals

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

Intervention Type: BEHAVIORAL

Eligibility Criteria

Inclusion Criteria

• Adult patients (18 years of age or older) who are referred to participating clinicians at Mount Sinai Hospital for clinical genetic testing.
• Parents/legal guardians (18 years of age or older) of pediatric patients who are referred to participating clinicians at SickKids for clinical genetic testing.

Exclusion:

• Known not to be eligible for clinical genetic testing in Ontario
• Requires urgent clinical genetic testing or prenatal genetic testing
• Not fluent in English (speaking and reading)

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Unity Health Toronto

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Yvonne Bombard, PhD

Role: PRINCIPAL_INVESTIGATOR

St. Michael's Hospital and University of Toronto

Robin Hayeems, PhD

Role: PRINCIPAL_INVESTIGATOR

The Hospital for Sick Children and University of Toronto

Locations

Mount Sinai Hospital

Toronto, Ontario, Canada

Site Status: NOT_YET_RECRUITING

The Hospital for Sick Children

Toronto, Ontario, Canada

Site Status: RECRUITING

Sunnybrook Hospital

Toronto, , Canada

Site Status: NOT_YET_RECRUITING

Countries

Canada

Central Contacts

Marc Clausen, MA

Role: CONTACT

Phone: 416-864-6060

Email: Marc.Clausen@unityhealth.to

Facility Contacts

Marc Clausen, MA

Role: primary

Stephanie Luca, MA

Role: primary

Marc Clausen, MA

Role: primary

References

D'Amours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D, Bernier F, Chad L, Costain G, Dhalla I, Faghfoury H, Friedman JM, Hewson S, Jamieson T, Silver J, Shuman C, Osmond M, Carroll JC, Jobling R, Laberge AM, Aronson M, Liston E, Lerner-Ellis J, Marshall C, Brudno M, Pham Q, Rudzicz F, Cohn R, Mamdani M, Smith M, Shastri-Estrada S, Seto E, Thorpe K, Ungar W, Hayeems RZ, Bombard Y. Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations. BMJ Open. 2024 Sep 3;14(9):e090084. doi: 10.1136/bmjopen-2024-090084.

Reference Type: DERIVED

PMID: 39231549 (View on PubMed)

Other Identifiers

4033

Identifier Type: -

Identifier Source: org_study_id