Refining Information Technology Support for Genetics in Medicine

Cancer Clinical Trial

— RISGIM  

Official title:

Refining Information Technology Support for Genetics in Medicine

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT01225978
• Other study ID #: 2009P002147
• Secondary ID: 1RC1LM010526
• Status: Active, not recruiting
• Phase: N/A
• First received: October 20, 2010
• Last updated: January 23, 2014
• Start date: September 2009
• Est. completion date: December 2014

Study information

• Verified date: January 2014
• Source: Brigham and Women's Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug AdministrationUnited States: Federal Government
• Study type: Observational

Clinical Trial Summary

The clinical use of genetic testing is expanding and, as a result, the number of variants identified in patients is growing. Knowledge of the clinical impact of these variants improves over time. However, the combination of more testing and the rapid evolution of genetic knowledge make it impossible for clinicians to fully account for the latest implications of their patients' genetic profiles as patient care decisions are made. This proposed study plans to enhance and evaluate IT infrastructure developed to provide timely genetic variant updates and patient search functionality to clinicians to assist in optimizing patient care.

Description:

A. Specific Aims

Aim 1: To assess the usability of successive versions of our EHR genetic display screens and variant-based patient search functionality.

Formal usability studies will be conducted with each new release of the GeneInsight Clinic (GIC) application in order to maximize its effectiveness and efficiency, and user satisfaction. Results from these studies will be used along with functional and technical requirements in designing enhancements to each successive version of the software.

Hypothesis: The usability of GeneInsight Clinic and the application's effectiveness, efficiency, and user satisfaction will improve with each successive version.

Aim 2. To assess the decision-making process associated with issuing alerts relating to new knowledge on germline variants.

Changes to cardiomyopathy and hearing loss variant level information will be placed in a queue for evaluation. A board-certified clinical laboratory geneticist will determine which changes should be released as an "alert" resulting in an update to the GIC and a notification to the clinician. This decision-making process will be evaluated.

Hypothesis: Evaluation of decision-making regarding release of genetic variant update alerts will identify patient and physician characteristics, and levels of significance of genetic variant updates that influence alerting decisions.

Aim 3. To measure the impact on efficiency of new genetic knowledge being incorporated into clinical care as a result of improved genetic IT infrastructure support.

Currently, clinicians learn of germline genetic variant updates when they choose to call the genetic laboratories to check for any possible new information on genetic tests of interest. With the GIC alerting system, treating clinicians will proactively receive genetic variant updates relevant to their patients. For cancer genotyping tests, once an associated variant is determined to have clinical significance, treating oncologists are interested in identifying all their patients with this variant to evaluate whether the patient's care plan should be modified. With the GIC patient search functionality, treating clinicians will be able to identify all their patients with the genetic variant of interest.

Hypothesis: The availability of the GIC tool will greatly reduce the time delay associated with distributing updated variant information to treating clinicians and will reduce the number of calls the Laboratory of Molecular Medicine (LMM) receives requesting variant updates. The efficiency of identifying all patients with clinically significant variants will be improved through use of the PGE tool.

Aim 4: To evaluate the satisfaction of treating clinicians, perceived impact on clinical care, and net effect on clinician workload associated with deploying genetic infrastructure.

Hypothesis: The introduction and subsequent revisions of the PGE tool will result in improved satisfaction, a perceived reduction in clinician workload, and a perceived improvement in clinical care.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 40
• Est. completion date: December 2014
• Est. primary completion date: December 2012
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

Study subjects selected from Partners HealthCare and non-Partners study sites include:

• treating clinicians

• geneticists

• genetic counselors

• pathologists

Exclusion Criteria:

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Cancer
• Cardiomyopathies
• Cardiomyopathy, Hypertrophic
• Deafness
• Hearing Loss
• Hypertrophic Cardiomyopathy
• Hypertrophy

Intervention

Device:
• GeneInsight Clinic (GIC)
GeneInsight Clinic (GIC) is a clinical interface tool that provides genetics IT support infrastructure designed to address key genetic data and knowledge management issues. The GIC enables the delivery of patient specific alerts when new information is learned about a variant after it has been reported to a treating clinician. The prototype for this study shows multiple tests, Hypertrophic Cardiomyopathy test updates, hearing loss test updates and broad spectrum genotyping test updates. Our intention is to build this functionality in a scalable manner that will ultimately accommodate whole genome sequencing.

Locations

Country	Name	City	State
Canada	Fred A. Litwin Centre for Clinical Genetics and Genomic Medicine	Toronto	Ontario
United States	University of Michigan Cardiovascular Center	Ann Arbor	Michigan
United States	Brigham and Women's Hospital Cardiovascular Genetics Center	Boston	Massachusetts
United States	Children's Hospital Boston's Cardiovascular Genetics Clinic	Boston	Massachusetts
United States	Children's Hospital Boston's Ear, Nose, and Throat Clinic	Boston	Massachusetts
United States	Massachusetts General Hospital Division of Pulmonary Oncology	Boston	Massachusetts
United States	Massachusetts General Hospital's Diagnostic Molecular Pathology Laboratory	Boston	Massachusetts
United States	Massachusetts General Hospital's Hypertrophic Cardiomyopathy Clinic	Boston	Massachusetts
United States	Massachusetts General Hospital's Medical Genetics Clinic	Boston	Massachusetts

Sponsors (3)

Lead Sponsor	Collaborator
Brigham and Women's Hospital	National Institutes of Health (NIH), National Library of Medicine (NLM)

Countries where clinical trial is conducted

United States,  Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Efficiency of Obtaining Updated Genetic Variant Information	Phone and email logging procedures will be implemented before study onset to establish a solid baseline. Laboratory staff will log each time they receive a phone call or email requesting updated information on a genetic variant. These logs will be maintained throughout the study period even once the GIC tool becomes available.; System auditing processes will capture data on when genetic variants are updated, when alerts are sent, and clinician accesses to online screens.; Centralized system data will be evaluated to track usage of the GIC patient search functions, using a flagging approach.	Continuous across 21 months	No
Secondary	Perception of Impact of Variant Update Significance Level Alerting on Clinician Workload	Surveys will be constructed that ask treating clinicians about their experience with using the GIC and its perceived impact on workload. The surveys will be distributed both pre and post implementation of the GIC system to provide comparative data. Interviews will also be conducted, transcribed, coded for themes, and open-ended comments will be classified to reflect issues relating to clinician experience with the GIC. Call logs and centralized system audit information which can track time spent using the tool will be used to determine time and effort required to get updated information.	Continuous Across 21 months	No
Secondary	Perception of Impact of Variant Update Significance Level Alerting on Clinician Satisfaction	Surveys will be constructed that ask treating clinicians about their satisfaction with using the GIC. The surveys will be distributed both pre and post implementation of the GIC system to provide comparative data. Interviews will also be conducted, transcribed, coded for themes, and open-ended comments will be classified to reflect issues relating to clinician experience with the GIC. Call logs and centralized system audit information which can track time spent using the tool will be used to determine time and effort required to get updated information.	Continuous Across 21 months	No
Secondary	Perception of Impact of Variant Update Significance Level Alerting on Clinical Care	Surveys will be constructed that ask treating clinicians about their experiences with using the GIC and its perceived impact on clinical care. The surveys will be distributed Both pre and post implementation of the GIC system to provide comparative data. Interviews will also be conducted, and those along with open-ended comments will be classified to reflect issues relating to clinician experience with the GIC. Call logs and centralized system audit information which can track time spent using the tool will be used to determine time and effort required to get updated information.	Continuous Across 21 months	No