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.
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.
Known not to be eligible for clinical genetic testing in Ontario
Requires urgent clinical genetic testing or prenatal genetic testing
None
Parallel
Genetics Navigator
BehavioralThe 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
BehavioralStandard care for the delivery of genetic services, including receiving genetic counselling and test results
Multi-Dimensional Impact of Cancer Risk Assessment (MICRA)
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)
University of North Carolina Genomic Knowledge Scale (UNC-GKS)
Knowledge is measured using the Genomic Knowledge Scale developed by The University of North Carolina. The scale is an established scale measuring genomics knowledge. Patients mark 25 statements about genes, genetic effects on health, familial inheritance, and diagnostic exome sequencing. Respondents mark each as true, false, or not sure/don't know (scored as incorrect). Correct responses are scored as 1 and summed. Possible scores range from 0-25. Higher scores indicates a higher level of knowledge (PMID: 29928697).
SURE
The SURE screening test is a 4-item tool to assess decisional conflict in patients, developed by Légaré et al. Each item is scored as a yes (1) or no (0), and a total score is calculated by summing all items. A score less than 4 indicates the probability that a patient experiences clinically significant decisional conflict.
Hospital Anxiety and Depression Scale (HADS)
Measured using the 14 item scale, each item is answered on a four point (0-3) response category. Possible scores ranged from 0 to 21 for anxiety and 0 to 21 for depression. Items can be summed and scored for both depression and anxiety, with a score above 11 indicates a case (depression or anxiety).
The Genomics Outcome Scale (GOS)
Patient empowerment is measured using the a shorter version of the Genetic Counselling Outcome Scale (GCOS-24), called Genomics Outcome Scale (GOS). The scale uses 6 patient reported outcome measure items to evaluate genetic counselling and testing services. Each item is scored on a 5-point scale and the final score is calculated by summing all items. Each of the 6 items in the measure is rated on a 7-point Likert scale ranging from 1 (strongly disagree) to 7 (strongly agree) with possible total scores ranging from 6 to 42. A higher score indicates greater empowerment. (PMID: 30496830)
Click on the lead sponsor to view all of their trials.
