The Genetics Update: Protocol for a Mixed Methods Randomized Controlled Trial Evaluating a Digital Platform to Deliver Updated Genomic Results
Health Services and Implementation
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Primary Categories:
- Health services and Implementation
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Secondary Categories:
- Health services and Implementation
Introduction:
The rise in genomic sequencing (GS) has led to the generation of thousands of variants for each patient undergoing testing. Variants are reclassified over time and can have clinical implications, presenting practical challenges to recontacting patients with updates. Patients expect to be recontacted with updated results and favour platforms especially for uncertain results, which are reclassified most frequently. Yet, recontact is burdensome for providers and patients, causing practice variation between clinics and potentially delaying appropriate management. The need for effective and practical methods to support patients receiving updated GS results will continue to rise, as the use of GS increases. Digital platforms offer feasible and scalable solutions to deliver updates, yet their effectiveness is unknown. The Genetics Update platform is a patient-centered digital platform designed to provide updates to patients about previous genomic test results. This study will measure the effectiveness of the Genetics Update platform compared to communication from a genetic counsellor (GC) in an adult cancer population receiving updated cancer and incidental findings (IFs) from reanalysis of previous GS.
Methods:
The effectiveness of the Genetics Update platform in reducing patient distress will be evaluated in a randomised controlled trial (RCT). One hundred and seventy adult cancer patients who have had germline GS as part of our team’s previous Incidental Genomics (NCT03597165) or Genetics Adviser (NCT04725565) trials will be recruited and will be offered reanalysis of their cancer findings as well as reanalysis of their choice of IFs. Participants will be randomly assigned to the intervention (platform) or control (GC communications) arm. Intervention participants will use the Genetics Update platform to support the delivery of their updated cancer and IF results, including when deciding to have their results reanalyzed, when waiting to receive their updated results, and when viewing their updated GS results and recommendations. Intervention participants will also have the option to request a meeting with a study GC at any time. Participants randomized to the control arm will meet with a study GC to learn about reanalysis and decide which results to have reanalyzed. Control participants will receive a letter from the study GC outlining their updated results and recommendations, and will have the option to request a meeting with a study GC to discuss their updated results.
Results:
The primary outcome is test-specific distress 2 weeks after receiving their updated results. Secondary outcomes include knowledge, activation, decisional conflict, anxiety/depression, quality of life, risk perception, satisfaction, acceptability, and health and digital literacy. Quantitative outcomes will be measured with validated surveys; GC consult times, and platform frequency and consistency of use will also be measured. The analysis of RCT outcomes will follow the intention-to-treat approach. Mean scores for test-specific distress will be compared by a t-test. Secondary endpoints will also be analyzed using a t-test for hypothesis-generating purposes. A sub-set of participants will be interviewed to explore user experience, using interpretive description to analyze the data.
Conclusion:
Recontacting patients to provide updated genomic results is a highly debated issue that poses a growing challenge to clinicians and the healthcare system. There is a critical need to develop efficient, scalable methods to deliver updated results. To our knowledge, this will be the first study to develop and test a patient-centred platform to return updated results within a rigorous trial.
The rise in genomic sequencing (GS) has led to the generation of thousands of variants for each patient undergoing testing. Variants are reclassified over time and can have clinical implications, presenting practical challenges to recontacting patients with updates. Patients expect to be recontacted with updated results and favour platforms especially for uncertain results, which are reclassified most frequently. Yet, recontact is burdensome for providers and patients, causing practice variation between clinics and potentially delaying appropriate management. The need for effective and practical methods to support patients receiving updated GS results will continue to rise, as the use of GS increases. Digital platforms offer feasible and scalable solutions to deliver updates, yet their effectiveness is unknown. The Genetics Update platform is a patient-centered digital platform designed to provide updates to patients about previous genomic test results. This study will measure the effectiveness of the Genetics Update platform compared to communication from a genetic counsellor (GC) in an adult cancer population receiving updated cancer and incidental findings (IFs) from reanalysis of previous GS.
Methods:
The effectiveness of the Genetics Update platform in reducing patient distress will be evaluated in a randomised controlled trial (RCT). One hundred and seventy adult cancer patients who have had germline GS as part of our team’s previous Incidental Genomics (NCT03597165) or Genetics Adviser (NCT04725565) trials will be recruited and will be offered reanalysis of their cancer findings as well as reanalysis of their choice of IFs. Participants will be randomly assigned to the intervention (platform) or control (GC communications) arm. Intervention participants will use the Genetics Update platform to support the delivery of their updated cancer and IF results, including when deciding to have their results reanalyzed, when waiting to receive their updated results, and when viewing their updated GS results and recommendations. Intervention participants will also have the option to request a meeting with a study GC at any time. Participants randomized to the control arm will meet with a study GC to learn about reanalysis and decide which results to have reanalyzed. Control participants will receive a letter from the study GC outlining their updated results and recommendations, and will have the option to request a meeting with a study GC to discuss their updated results.
Results:
The primary outcome is test-specific distress 2 weeks after receiving their updated results. Secondary outcomes include knowledge, activation, decisional conflict, anxiety/depression, quality of life, risk perception, satisfaction, acceptability, and health and digital literacy. Quantitative outcomes will be measured with validated surveys; GC consult times, and platform frequency and consistency of use will also be measured. The analysis of RCT outcomes will follow the intention-to-treat approach. Mean scores for test-specific distress will be compared by a t-test. Secondary endpoints will also be analyzed using a t-test for hypothesis-generating purposes. A sub-set of participants will be interviewed to explore user experience, using interpretive description to analyze the data.
Conclusion:
Recontacting patients to provide updated genomic results is a highly debated issue that poses a growing challenge to clinicians and the healthcare system. There is a critical need to develop efficient, scalable methods to deliver updated results. To our knowledge, this will be the first study to develop and test a patient-centred platform to return updated results within a rigorous trial.