Clinical trial NCT06455384: The Genetics Navigator: Evaluating a Digital Platform for Genomics Health Services
Official title: The Genetics Navigator: Evaluating a Digital Platform for Genomics Health Services
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
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
Lead sponsor: Unity Health Toronto
Sponsor class: OTHER
First posted: 2024-06-12
Enrollment: 170
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: HEALTH_SERVICES_RESEARCH

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.

Eligibility criteria: Inclusion:

* 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)

Primary outcomes:
measure: Multi-Dimensional Impact of Cancer Risk Assessment (MICRA)
timeFrame: At 6 months and 9 months after baseline
Secondary outcomes:
measure: University of North Carolina Genomic Knowledge Scale (UNC-GKS)
timeFrame: Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months
measure: SURE
timeFrame: Assessed at 1 month
measure: Hospital Anxiety and Depression Scale (HADS)
timeFrame: Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months
measure: The Genomics Outcome Scale (GOS)
timeFrame: Assessed at 2 weeks, 1 month, 6 months and 9 months
measure: 36-item Short Form Survey (SF-36)
timeFrame: Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months
measure: Satisfaction with Decision Making Scale
timeFrame: Assessed at 1 month
measure: Preparation for Decision Making Scale
timeFrame: Assessed at 1 month
measure: Acceptability e-Scale
timeFrame: Assessed at 2 weeks, 1 month, 6 months and 9 months
measure: Digital Health Literacy Scale (DHLS)
timeFrame: Control: Assessed at baseline; Intervention: Assessed at baseline
measure: Frequency of platform use
timeFrame: Baseline
measure: Duration of platform session
timeFrame: 2 weeks, 6 months and 9 months
measure: Answers to platform questions
timeFrame: Assessed at 2 weeks, 6 months and 9 months
measure: Duration of genetic counselling session
timeFrame: Control: immediately after pre-test meeting with clinician, immediately after post-test meeting with clinician; Intervention: immediately after pre-test meeting with clinician, immediately after post-test meeting with clinician
measure: Qualitative outcomes of counselling sessions
timeFrame: 2 weeks and 6 months
measure: Qualitative interviews with a subset of participants and providers
timeFrame: 9 months
measure: BRIEF Health Literacy Screening Tool (BRIEF)
timeFrame: Assessed at baseline
measure: Health Resource Use Questionnaire (RUQ)
timeFrame: Assessed at 1 month and 9 months
Other outcomes:
Locations:
city: Toronto
country: Canada
facility: Mount Sinai Hospital
state: Ontario
city: Toronto
country: Canada
facility: The Hospital for Sick Children
state: Ontario
Study officials:
affiliation: St. Michael's Hospital and University of Toronto
name: Yvonne Bombard, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: The Hospital for Sick Children and University of Toronto
name: Robin Hayeems, PhD
role: PRINCIPAL_INVESTIGATOR
References: