The Genetics Navigator: Evaluating a Digital Platform for Genomics Health Services
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 170
- 试验地点
- 6
- 主要终点
- Multi-Dimensional Impact of Cancer Risk Assessment (MICRA)
研究概览
简要总结
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.
详细描述
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:
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Parallel
- 主要目的
- Health Services Research
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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)
研究组 & 干预措施
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.
干预措施: Genetics Navigator (Behavioral)
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.
干预措施: Standard Care with Genetics Professionals (Behavioral)
结局指标
主要结局
Multi-Dimensional Impact of Cancer Risk Assessment (MICRA)
时间窗: At 6 months and 9 months after baseline
The Multi-Dimensional Impact of Cancer Risk Assessment (MICRA) is a 25-item standardized, validated scale that measures the impact of result disclosure from genetic tests. There are three subscales: Distress (6 items), Uncertainty (9 items) and Positive Experiences (4 items). Total scores range from 0-125, with higher scores indicating worse outcome. Scores on the Distress subscale range from 0-30, with higher scores indicating worse outcome. Scores on the Uncertainty subscale range from 0-45, with higher scores indicating worse outcome. Scores on the Positive Experiences Subscale range from 0-20, with higher scores indicating worse outcomes. (PMID: 12433008)
次要结局
- Preparation for Decision Making Scale(Assessed at 1 month)
- The Genomics Outcome Scale (GOS)(Assessed at 2 weeks, 1 month, 6 months and 9 months)
- University of North Carolina Genomic Knowledge Scale (UNC-GKS)(Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months)
- Satisfaction with Decision Making Scale(Assessed at 1 month)
- SURE(Assessed at 1 month)
- 36-item Short Form Survey (SF-36)(Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months)
- Acceptability e-Scale(Assessed at 2 weeks, 1 month, 6 months and 9 months)
- Hospital Anxiety and Depression Scale (HADS)(Assessed at baseline, 2 weeks, 1 month, 6 months and 9 months)
- Digital Health Literacy Scale (DHLS)(Control: Assessed at baseline; Intervention: Assessed at baseline)
- Frequency of platform use(Baseline)
- Qualitative outcomes of counselling sessions(2 weeks and 6 months)
- Qualitative interviews with a subset of participants and providers(9 months)
- Health Resource Use Questionnaire (RUQ)(Assessed at 1 month and 9 months)
- Duration of platform session(2 weeks, 6 months and 9 months)
- Answers to platform questions(Assessed at 2 weeks, 6 months and 9 months)
- Duration of genetic counselling session(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)
- BRIEF Health Literacy Screening Tool (BRIEF)(Assessed at baseline)