A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare
NCT ID: NCT01736566
Last Updated: 2024-08-27
Study Results
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View full resultsBasic Information
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COMPLETED
NA
213 participants
INTERVENTIONAL
2011-12-31
2021-01-02
Brief Summary
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Detailed Description
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We believe that WGS will be used in many ways, including two distinct and complementary situations. In generally healthy patients, physicians will use the results of WGS to derive insight into future health risks and inform prevention and surveillance efforts, a category we refer to as General Genomic Medicine. In patients presenting with a family history or symptoms of a disease, physicians will use the results of WGS to interrogate particular sets of genes known to be associated with the disease in question, a category we refer to as Disease-Specific Genomic Medicine.
Beginning in fall 2012, we will enroll 10 primary care physicians and 100 of their healthy middle-aged patients to evaluate the use of General Genomic Medicine, and 10 cardiologists and 100 of their patients presenting with hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) to evaluate the use of Disease-Specific Genomic Medicine. We will randomize physicians and their patients within each of the above models to receive clinically meaningful information derived from WGS versus current standard of care without the use of WGS.
MedSeq™ is comprised of three distinct but highly collaborative projects. Project 1 will enroll physicians and patients into the protocol, educate the physicians on basic genomic principles and safely monitor the use of genomic information in clinical practice. Project 2 will use a WGS analysis/interpretation pipeline to generate a genome report on each patient randomized to receive WGS in this protocol. Project 3 will examine preferences and motivations of physicians and patients enrolled, evaluate the flow and utilization of genomic information within the clinical interactions, and assess understanding, behavior, medical consequences and healthcare costs associated with the use of WGS in these models of medical practice.
In an extension phase of the study, we will 1) recruit approximately 10-15 patient-participants who self-identify as African or African American, whose physicians deem to be healthy. All will be placed in the whole genome-sequencing arm of the study. They will undergo the same activities as traditional MedSeq participants except for randomization. 2) We will conduct a targeted phenotype assessment on MedSeq Project patient-participants who are identified to have a monogenic finding. We plan to perform additional analysis by reviewing their medical records and looking specifically with their variant in mind to see if features associated with the variants were known prior to the study or were identified by further testing or by their physical during the course of the study.
This initiative will significantly accelerate the use of genomics in clinical medicine by creating and safely testing novel methods for integrating information from WGS into physicians' care of patients.
Conditions
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Study Design
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RANDOMIZED
PARALLEL
HEALTH_SERVICES_RESEARCH
NONE
Study Groups
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Family History + Whole Genome Sequencing
Doctors and their patients receive a Genome Report and an Annotated Family History Report.
Family History + Whole Genome Sequencing
Doctors and their patients receive a Genome Report and a Family History report.
There are two sections of the Genome Report:
1. The General Genome Report, which include highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
2. The Cardiac Risk Supplement, which contain genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Extension Phase: Experimental: Family History + Whole Genome Sequencing
\*In the main study participants are randomized to either the Experimental or Other Arm, in the Extension phase of the study all participants are in the Experimental Arm.
Family History Only
Doctors and their patients receive an Annotated Family History Report only.
Family History Only
Doctors and their patients receive a Family History report.
Interventions
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Family History + Whole Genome Sequencing
Doctors and their patients receive a Genome Report and a Family History report.
There are two sections of the Genome Report:
1. The General Genome Report, which include highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
2. The Cardiac Risk Supplement, which contain genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Extension Phase: Experimental: Family History + Whole Genome Sequencing
\*In the main study participants are randomized to either the Experimental or Other Arm, in the Extension phase of the study all participants are in the Experimental Arm.
Family History Only
Doctors and their patients receive a Family History report.
Eligibility Criteria
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Inclusion Criteria
* Generally healthy (as defined by the primary care provider) adult patients at Brigham and Women's Hospital ages 40-65. All patients must be fluent in English.
Cardiology
* Patients in the Partners Healthcare System who are 18 years or older with a diagnosis of hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) and a family history of HCM or DCM who previously had or who are candidates for targeted HCM or DCM genetic testing through routine clinical practice within Partners. All patients must be fluent in English.
Part 1:
* MedSeq participants determined to have a monogenic finding
Exclusion Criteria
* Patients who do not meet the above criteria. Patients with cardiac disease or a progressive debilitating illness. Patients who are pregnant or patients whose spouses/significant others are pregnant. Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score \> 11 administered at the baseline study visit.)
Cardiology
* Patients who do not meet the above criteria. Patients with a progressive debilitating illness. Patients who are pregnant or patients whose spouses/significant others are pregnant. Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score \> 11 administered at the baseline study visit.)
* Inclusion: Self-identify as African or African American.
Part 2:
* Participants not previously enrolled in MedSeq Project
* Participants not identified to have a monogenic finding
18 Years
90 Years
ALL
Yes
Sponsors
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National Human Genome Research Institute (NHGRI)
NIH
Baylor College of Medicine
OTHER
Duke University
OTHER
Brigham and Women's Hospital
OTHER
Responsible Party
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Robert C. Green, MD, MPH
Principal Investigator, The MedSeq Project
Principal Investigators
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Robert C Green, MD, MPH
Role: PRINCIPAL_INVESTIGATOR
Brigham and Women's Hospital
Locations
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Brigham and Women's Hospital
Boston, Massachusetts, United States
Countries
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References
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Provided Documents
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Document Type: Study Protocol and Statistical Analysis Plan
Related Links
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NHGRI
Other Identifiers
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MedSeq™
Identifier Type: -
Identifier Source: org_study_id
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