Refining Information Technology Support for Genetics in Medicine (RISGIM)

January 23, 2014 updated by: David W. Bates, MD, MSc, Brigham and Women's Hospital
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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Detailed 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.

Study Type

Observational

Enrollment (Anticipated)

40

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Ontario
      • Toronto, Ontario, Canada, M5G 2C4
        • Fred A. Litwin Centre for Clinical Genetics and Genomic Medicine
  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Brigham and Women's Hospital Cardiovascular Genetics Center
      • Boston, Massachusetts, United States, 02115
        • Children's Hospital Boston's Cardiovascular Genetics Clinic
      • Boston, Massachusetts, United States, 02115
        • Children's Hospital Boston's Ear, Nose, and Throat Clinic
      • Boston, Massachusetts, United States, 02115
        • Massachusetts General Hospital Division of Pulmonary Oncology
      • Boston, Massachusetts, United States, 02115
        • Massachusetts General Hospital's Diagnostic Molecular Pathology Laboratory
      • Boston, Massachusetts, United States, 02115
        • Massachusetts General Hospital's Hypertrophic Cardiomyopathy Clinic
      • Boston, Massachusetts, United States, 02115
        • Massachusetts General Hospital's Medical Genetics Clinic
    • Michigan
      • Ann Arbor, Michigan, United States, 48109
        • University of Michigan Cardiovascular Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

The subjects in this study will be treating clinicians, geneticists, genetic counselors, and pathologists who are involved in ordering or processing genetic tests relating to cardiomyopathy, hearing loss, and cancer genotyping tests.

Description

Inclusion Criteria:

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

  • treating clinicians
  • geneticists
  • genetic counselors
  • pathologists

Exclusion Criteria:

  • N/A

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
GeneInsight Clinic (GIC)
The Group/Cohort in this study are geneticists, physicians, and genetic counselors who are using the GeneInsight Clinic (previously known as Patient Genome Explorer) to receive and store genetic test reports and variant update information.
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.

Other Names:
  • GeneInsight Suite
  • Previously known as Patient Genome Explorer (PGE)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Efficiency of Obtaining Updated Genetic Variant Information
Time Frame: Continuous across 21 months

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

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Perception of Impact of Variant Update Significance Level Alerting on Clinician Workload
Time Frame: Continuous Across 21 months
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
Perception of Impact of Variant Update Significance Level Alerting on Clinician Satisfaction
Time Frame: Continuous Across 21 months
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
Perception of Impact of Variant Update Significance Level Alerting on Clinical Care
Time Frame: Continuous Across 21 months
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Brigham and Women's Hospital

Collaborators

National Institutes of Health (NIH)
National Library of Medicine (NLM)

Investigators

  • Principal Investigator: David W Bates, MD, MSc, Brigham and Women's Hospital, Harvard Medical School, Partners HealthCare, Inc.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2009

Primary Completion (Actual)

December 1, 2012

Study Completion (Anticipated)

December 1, 2014

Study Registration Dates

First Submitted

October 20, 2010

First Submitted That Met QC Criteria

October 20, 2010

First Posted (Estimate)

October 21, 2010

Study Record Updates

Last Update Posted (Estimate)

January 24, 2014

Last Update Submitted That Met QC Criteria

January 23, 2014

Last Verified

January 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2009P002147
  • 1RC1LM010526 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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