ID

45919

Beschrijving

Principal Investigator: Robert C. Green, MD, MPH, Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA MeSH: Cardiomyopathies,Cardiomyopathy, Dilated,Cardiomyopathy, Hypertrophic https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000958 Whole genome sequencing (WGS) and whole exome sequencing (WES) services are currently available to and being utilized by physicians and their patients in both research and clinical settings, and recently to anyone in the general public via direct-to-consumer companies. But the widespread availability and use of WGS and WES in the practice of clinical medicine is imminent. In the very near future, sequencing of individual genomes will be inexpensive and ubiquitous, and patients will be looking to the medical establishment for interpretations, insight and advice to improve their health. Developing standards and procedures for the use of WGS information in clinical medicine is an urgent need, but there are numerous obstacles related to integrity and storage of WGS data, interpretation and responsible clinical integration. The MedSeq Project is an exploratory trial of WGS in clinical medicine. At the conclusion of this study, we will have helped create innovative protocols and novel outcome measures that can be applied safely in future large-scale multi-site randomized clinical trials with larger numbers of physicians from broad specialties and with more economically and ethnically diverse patients. Together with our colleagues from across the nation through the U01 consortium formed as a result of this funding from the NIH, we will have invented a process of implementation and evaluation whereby the fruits of the Human Genome Project can be applied for the first time to the daily practice of medicine for the betterment of human health. The objectives of the MedSeq Project are to:- Recruit, consent and enroll 2 study groups: ol type="a"- 10 primary care physicians and 100 of their healthy middle-aged patients - 10 cardiologists and 100 of their patients with cardiomyopathy. - Randomize each study group to receive standard of care versus standard of care plus WGS. - Monitor the entire protocol for subject safety. - Only half the enrolled patients were selected for sequencing. Fifty subjects were selected from the primary care cohort and fifty were selected from the cardiomyopathy cohort. Whole genome sequencing was performed at 30x coverage in Illumina's CLIA-certified laboratory on these 100 individuals. - Generate and optimize an algorithm for interpreting WGS data covering the spectrum of human genetic variation, in terms of both previously reported and novel variants likely to influence the health of patients. - Create patient reports and provide an interface for communicating clinically relevant genomic information to practicing physicians. liDescribe physicians' and patients' attitudes toward, and preferences for, the disclosure of WGS results at the start of the study./li liEvaluate physicians' experiences with receiving and interpreting patients' genetic test results and how they communicate these results to their patients./li liExplore how patients respond to and use WGS results by administering validated scales of psychological impact, personal utility, and behavioral responses, as well as economic and health outcomes./li Although we do not have a large enough sample size for statistical comparisons of outcomes, we will conduct exploratory comparisons: Exploratory Hypotheses: liPatients who receive WGS results will show equivalent levels of distress compared to patients who receive family history only./li liPatients with higher genetic literacy and better understanding will report greater satisfaction and less decisional regret./li liPatients who receive WGS will (a) be more likely to change health behaviors and (b) utilize more health care resources than those who do not receive WGS./li

Link

dbGaP study = phs000958

Trefwoorden

  1. 05-02-24 05-02-24 - Simon Heim
Houder van rechten

Robert C. Green, MD, MPH, Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA

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5 februari 2024

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000958 CSER-MedSeq

Eligibility Criteria

Inclusion and exclusion criteria
Beschrijving

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Patients:*
Beschrijving

*Patients:*

Datatype

boolean

Alias
UMLS CUI [1,1]
C0030705
Primary Care Patients:
Beschrijving

Primary Care Patients:

Datatype

boolean

Alias
UMLS CUI [1,1]
C0033137
UMLS CUI [1,2]
C0030705
*Inclusion criteria:*
Beschrijving

*Inclusion criteria:*

Datatype

boolean

Alias
UMLS CUI [1,1]
C1512693
Generally healthy (as defined by the primary care provider and exclusion criteria) adult patients at Brigham and Women's Hospital (BWH)
Beschrijving

Generally healthy (as defined by the primary care provider and exclusion criteria) adult patients at Brigham and Women's Hospital (BWH)

Datatype

boolean

Alias
UMLS CUI [1,1]
C0424575
UMLS CUI [1,2]
C0205170
UMLS CUI [1,3]
C1704788
UMLS CUI [1,4]
C2735026
UMLS CUI [1,5]
C0680251
UMLS CUI [1,6]
C0001675
UMLS CUI [1,7]
C0019994
UMLS CUI [1,8]
C3846158
Ages 40-65
Beschrijving

Ages 40-65

Datatype

boolean

Alias
UMLS CUI [1,1]
C0001779
All patients must be fluent in English
Beschrijving

All patients must be fluent in English

Datatype

boolean

Alias
UMLS CUI [1,1]
C0376245
UMLS CUI [1,2]
C0564241
*Exclusion criteria:*
Beschrijving

*Exclusion criteria:*

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
Patients who do not meet the above criteria
Beschrijving

Patients who do not meet the above criteria

Datatype

boolean

Alias
UMLS CUI [1,1]
C3828770
Patients with a progressive debilitating illness
Beschrijving

Patients with a progressive debilitating illness

Datatype

boolean

Alias
UMLS CUI [1,1]
C4061418
UMLS CUI [1,2]
C0742985
Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score ≥ 14 on the anxiety subscale or ≥ 16 on the depression subscale)
Beschrijving

Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score ≥ 14 on the anxiety subscale or ≥ 16 on the depression subscale)

Datatype

boolean

Alias
UMLS CUI [1,1]
C0332155
UMLS CUI [1,2]
C0596344
UMLS CUI [1,3]
C2362914
UMLS CUI [1,4]
C3897018
UMLS CUI [1,5]
C3899004
Patients with cardiovascular disease (including Long QT syndrome, arrhythmia, atrial fibrillation, abdominal aortic aneurysm, etc.)
Beschrijving

Patients with cardiovascular disease (including Long QT syndrome, arrhythmia, atrial fibrillation, abdominal aortic aneurysm, etc.)

Datatype

boolean

Alias
UMLS CUI [1,1]
C0007222
UMLS CUI [1,2]
C0023976
UMLS CUI [1,3]
C0004238
UMLS CUI [1,4]
C0162871
UMLS CUI [1,5]
C0003811
Patients with type 2 diabetes
Beschrijving

Patients with type 2 diabetes

Datatype

boolean

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0441730
Patients with clotting disorders
Beschrijving

Patients with clotting disorders

Datatype

boolean

Alias
UMLS CUI [1,1]
C0005779
Patients who are pregnant or patients whose spouses/significant others are pregnant
Beschrijving

Patients who are pregnant or patients whose spouses/significant others are pregnant

Datatype

boolean

Alias
UMLS CUI [1,1]
C0032961
UMLS CUI [2,1]
C0032961
UMLS CUI [2,2]
C0682323
Cardiology Patients:
Beschrijving

Cardiology Patients:

Datatype

boolean

Alias
UMLS CUI [1,1]
C0007189
*Inclusion criteria:* Patients in the Partners Healthcare System or patients seen at Boston Children's Hospital (BCH) who are 18 years or older with a diagnosis of hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) who previously had or who are candidates for targeted genetic testing through routine clinical practices within Partners or at BCH. All patients must be fluent in English.
Beschrijving

*Inclusion criteria:* Patients in the Partners Healthcare System or patients seen at Boston Children's Hospital (BCH) who are 18 years or older with a diagnosis of hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) who previously had or who are candidates for targeted genetic testing through routine clinical practices within Partners or at BCH. All patients must be fluent in English.

Datatype

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C3887537
UMLS CUI [1,3]
C0018696
UMLS CUI [1,4]
C0020017
UMLS CUI [1,5]
C0006037
UMLS CUI [1,6]
C0001779
UMLS CUI [1,7]
C0011900
UMLS CUI [1,8]
C0007194
UMLS CUI [1,9]
C0007193
UMLS CUI [1,10]
C0205156
UMLS CUI [1,11]
C0600224
UMLS CUI [1,12]
C4527371
UMLS CUI [1,13]
C0205547
UMLS CUI [1,14]
C2986419
UMLS CUI [1,15]
C0564241
UMLS CUI [1,16]
C0376245
*Exclusion criteria:* 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 score of ≥ 14 on the anxiety subscale of the HADS or a score of ≥ 16 on the depression subscale of the HADS.
Beschrijving

*Exclusion criteria:* 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 score of ≥ 14 on the anxiety subscale of the HADS or a score of ≥ 16 on the depression subscale of the HADS.

Datatype

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [2,1]
C5236167
UMLS CUI [3,1]
C0742985
UMLS CUI [3,2]
C4061418
UMLS CUI [4,1]
C0032961
UMLS CUI [5,1]
C3845541
UMLS CUI [5,2]
C0032961
UMLS CUI [6,1]
C0332155
UMLS CUI [6,2]
C0596344
UMLS CUI [6,3]
C2362914
UMLS CUI [6,4]
C5188377
UMLS CUI [6,5]
C5188910

Similar models

Eligibility Criteria

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
*Patients:*
Item
*Patients:*
boolean
C0030705 (UMLS CUI [1,1])
Primary Care Patients:
Item
Primary Care Patients:
boolean
C0033137 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
*Inclusion criteria:*
Item
*Inclusion criteria:*
boolean
C1512693 (UMLS CUI [1,1])
Generally healthy (as defined by the primary care provider and exclusion criteria) adult patients at Brigham and Women's Hospital (BWH)
Item
Generally healthy (as defined by the primary care provider and exclusion criteria) adult patients at Brigham and Women's Hospital (BWH)
boolean
C0424575 (UMLS CUI [1,1])
C0205170 (UMLS CUI [1,2])
C1704788 (UMLS CUI [1,3])
C2735026 (UMLS CUI [1,4])
C0680251 (UMLS CUI [1,5])
C0001675 (UMLS CUI [1,6])
C0019994 (UMLS CUI [1,7])
C3846158 (UMLS CUI [1,8])
Ages 40-65
Item
Ages 40-65
boolean
C0001779 (UMLS CUI [1,1])
All patients must be fluent in English
Item
All patients must be fluent in English
boolean
C0376245 (UMLS CUI [1,1])
C0564241 (UMLS CUI [1,2])
*Exclusion criteria:*
Item
*Exclusion criteria:*
boolean
C0680251 (UMLS CUI [1,1])
Patients who do not meet the above criteria
Item
Patients who do not meet the above criteria
boolean
C3828770 (UMLS CUI [1,1])
Patients with a progressive debilitating illness
Item
Patients with a progressive debilitating illness
boolean
C4061418 (UMLS CUI [1,1])
C0742985 (UMLS CUI [1,2])
Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score ≥ 14 on the anxiety subscale or ≥ 16 on the depression subscale)
Item
Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score ≥ 14 on the anxiety subscale or ≥ 16 on the depression subscale)
boolean
C0332155 (UMLS CUI [1,1])
C0596344 (UMLS CUI [1,2])
C2362914 (UMLS CUI [1,3])
C3897018 (UMLS CUI [1,4])
C3899004 (UMLS CUI [1,5])
Patients with cardiovascular disease (including Long QT syndrome, arrhythmia, atrial fibrillation, abdominal aortic aneurysm, etc.)
Item
Patients with cardiovascular disease (including Long QT syndrome, arrhythmia, atrial fibrillation, abdominal aortic aneurysm, etc.)
boolean
C0007222 (UMLS CUI [1,1])
C0023976 (UMLS CUI [1,2])
C0004238 (UMLS CUI [1,3])
C0162871 (UMLS CUI [1,4])
C0003811 (UMLS CUI [1,5])
Patients with type 2 diabetes
Item
Patients with type 2 diabetes
boolean
C0011849 (UMLS CUI [1,1])
C0441730 (UMLS CUI [1,2])
Patients with clotting disorders
Item
Patients with clotting disorders
boolean
C0005779 (UMLS CUI [1,1])
Patients who are pregnant or patients whose spouses/significant others are pregnant
Item
Patients who are pregnant or patients whose spouses/significant others are pregnant
boolean
C0032961 (UMLS CUI [1,1])
C0032961 (UMLS CUI [2,1])
C0682323 (UMLS CUI [2,2])
Cardiology Patients:
Item
Cardiology Patients:
boolean
C0007189 (UMLS CUI [1,1])
*Inclusion criteria:* Patients in the Partners Healthcare System or patients seen at Boston Children's Hospital (BCH) who are 18 years or older with a diagnosis of hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) who previously had or who are candidates for targeted genetic testing through routine clinical practices within Partners or at BCH. All patients must be fluent in English.
Item
*Inclusion criteria:* Patients in the Partners Healthcare System or patients seen at Boston Children's Hospital (BCH) who are 18 years or older with a diagnosis of hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) who previously had or who are candidates for targeted genetic testing through routine clinical practices within Partners or at BCH. All patients must be fluent in English.
boolean
C1512693 (UMLS CUI [1,1])
C3887537 (UMLS CUI [1,2])
C0018696 (UMLS CUI [1,3])
C0020017 (UMLS CUI [1,4])
C0006037 (UMLS CUI [1,5])
C0001779 (UMLS CUI [1,6])
C0011900 (UMLS CUI [1,7])
C0007194 (UMLS CUI [1,8])
C0007193 (UMLS CUI [1,9])
C0205156 (UMLS CUI [1,10])
C0600224 (UMLS CUI [1,11])
C4527371 (UMLS CUI [1,12])
C0205547 (UMLS CUI [1,13])
C2986419 (UMLS CUI [1,14])
C0564241 (UMLS CUI [1,15])
C0376245 (UMLS CUI [1,16])
*Exclusion criteria:* 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 score of ≥ 14 on the anxiety subscale of the HADS or a score of ≥ 16 on the depression subscale of the HADS.
Item
*Exclusion criteria:* 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 score of ≥ 14 on the anxiety subscale of the HADS or a score of ≥ 16 on the depression subscale of the HADS.
boolean
C0680251 (UMLS CUI [1,1])
C5236167 (UMLS CUI [2,1])
C0742985 (UMLS CUI [3,1])
C4061418 (UMLS CUI [3,2])
C0032961 (UMLS CUI [4,1])
C3845541 (UMLS CUI [5,1])
C0032961 (UMLS CUI [5,2])
C0332155 (UMLS CUI [6,1])
C0596344 (UMLS CUI [6,2])
C2362914 (UMLS CUI [6,3])
C5188377 (UMLS CUI [6,4])
C5188910 (UMLS CUI [6,5])

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