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

Status

Indicates the current recruitment status or the expanded access status.
Unknown

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Anticipated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
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

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
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

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Brigham and Women's Hospital

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
National Institutes of Health (NIH)
National Library of Medicine (NLM)

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • 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

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
September 1, 2009

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
December 1, 2012

Study Completion (Anticipated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 1, 2014

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
October 20, 2010

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 20, 2010

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
October 21, 2010

Study Record Updates

Last Update Posted (Estimate)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
January 24, 2014

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 23, 2014

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
January 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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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