Hypertrophic CardiomyopathyRISGIMNCT01225978
Refining Information Technology Support for Genetics in Medicine
An observational study of Hypertrophic Cardiomyopathy and Hearing Loss, run by Brigham and Women's Hospital at 9 sites in 2 countries.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Hypertrophic Cardiomyopathy, Hearing Loss, Cancer
- What is being tested?
- GeneInsight Clinic (GIC)
- Type of treatment
- Medical device
- How many people
- 40 participants
- Where
- 9 sitesin 2 countries
- Study dates
- Sep 2009to Dec 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- Study subjects selected from Partners HealthCare and non-Partners study sites include:
- treating clinicians
- geneticists
- genetic counselors
- pathologists
Who cannot join
- N/A
Trial locations and contacts
9 sites in 2 countries.
9 sites in 2 countries
United States8 sites
University of Michigan Cardiovascular Center
Ann Arbor, Michigan, 48109
Brigham and Women's Hospital Cardiovascular Genetics Center
Boston, Massachusetts, 02115
Children's Hospital Boston's Cardiovascular Genetics Clinic
Boston, Massachusetts, 02115
Children's Hospital Boston's Ear, Nose, and Throat Clinic
Boston, Massachusetts, 02115
Massachusetts General Hospital Division of Pulmonary Oncology
Boston, Massachusetts, 02115
Massachusetts General Hospital's Diagnostic Molecular Pathology Laboratory
Boston, Massachusetts, 02115
Massachusetts General Hospital's Hypertrophic Cardiomyopathy Clinic
Boston, Massachusetts, 02115
Massachusetts General Hospital's Medical Genetics Clinic
Boston, Massachusetts, 02115
Canada1 site
Fred A. Litwin Centre for Clinical Genetics and Genomic Medicine
Toronto, Ontario, M5G 2C4
About this study
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.
Read the detailed description
- 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.
- Conditions
- Hypertrophic Cardiomyopathy, Hearing Loss, Cancer
- Being tested
- GeneInsight Clinic (GIC)
- Keywords
- Genetic Information, Variant Updates, Information Technology, Hypertrophic Cardiomyopathy, Hearing Loss, Oncology
- Medical subject headings
- Cardiomyopathy, Hypertrophic, Hearing Loss, Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GeneInsight Clinic (GIC)Device
Also called GeneInsight Suite, Previously known as Patient Genome Explorer (PGE)
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Device: GeneInsight Clinic (GIC) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Continuous across 21 months
Secondary outcomes (3)
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.
Measured: Continuous Across 21 months
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.
Measured: Continuous Across 21 months
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.
Measured: Continuous Across 21 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Oct 2010 (estimated)
- Study startSep 2009
- Primary completionDec 2012
- Study completionDec 2014 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Hypertrophic CardiomyopathyStudies of the same condition, open and under way.
- More trials run by Brigham and Women's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Brigham and Women's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), National Library of Medicine (NLM)
- Responsible party
- Principal investigator, David W. Bates, MD, MSc, Brigham and Women's Hospital
- Investigators
- David W Bates, MD, MSc, Principal investigator, Brigham and Women's Hospital, Harvard Medical School, Partners HealthCare, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01225978
- Sponsor's protocol ID
- 2009P002147
- Other IDs
- 1RC1LM010526
- Acronym
- RISGIM
- Status last verified
- Jan 2014
- First submitted
- 20 Oct 2010
- Last updated
- 24 Jan 2014
- Results posted
- No
- Data monitoring committee
- No
Publications
Klinkenberg-Ramirez S, Neri PM, Volk LA, Samaha SJ, Newmark LP, Pollard S, Varugheese M, Baxter S, Aronson SJ, Rehm HL, Bates DW. Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates. Appl Clin Inform. 2016 Jun 1;7(2):461-76. doi: 10.4338/ACI-2015-11-RA-0162. eCollection 2016.
PubMed 27437054
Study at a glance
From the registry record, last updated by the sponsor on 24 Jan 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Refining Information Technology Support for Genetics in Medicine
- ClinicalTrials.gov ID
- NCT01225978
- Acronym / sponsor ID
- RISGIM / 2009P002147
- Conditions
- Hypertrophic Cardiomyopathy, Hearing Loss, Cancer
- Keywords
- Genetic Information, Variant Updates, Information Technology, Hypertrophic Cardiomyopathy, Hearing Loss, Oncology
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Brigham and Women's HospitalUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH), National Library of Medicine (NLM)
- Study start
- Sep 2009
- Primary completion
- Dec 2012 (actual)
- Study completion
- Dec 2014 (estimated)
- First posted
- 21 Oct 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
- 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| GeneInsight Clinic (GIC) | – | Device: 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- treating clinicians
- geneticists
- genetic counselors
- pathologists
Key exclusion criteria (1 listed)
- N/A
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| GeneInsight Clinic (GIC)Also: GeneInsight Suite, Previously known as Patient Genome Explorer (PGE)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. | Device | GeneInsight Clinic (GIC) |
Primary outcome
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.
3 secondary outcomes
Perception of Impact of Variant Update Significance Level Alerting on Clinician Workload
Time frame: Continuous Across 21 months
Perception of Impact of Variant Update Significance Level Alerting on Clinician Satisfaction
Time frame: Continuous Across 21 months
Perception of Impact of Variant Update Significance Level Alerting on Clinical Care
Time frame: Continuous Across 21 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jan 2014.
- Derived from this study: PubMed 27437054Klinkenberg-Ramirez S, Neri PM, Volk LA, Samaha SJ, Newmark LP, Pollard S, Varugheese M, Baxter S, Aronson SJ, Rehm HL, Bates DW. Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates. Appl Clin Inform. 2016 Jun 1;7(2):461-76. doi: 10.4338/ACI-2015-11-RA-0162. eCollection 2016.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
David W Bates, MD, MSc principal investigator
Brigham and Women's Hospital, Harvard Medical School, Partners HealthCare, Inc.
9 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypertrophic Cardiomyopathy and Hearing Loss, run by Brigham and Women's Hospital at 9 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 24 Jan 2014. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Efficiency of Obtaining Updated Genetic Variant Information (time frame: Continuous across 21 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01225978, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jan 2014.