ID

45919

Descrição

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

Palavras-chave

  1. 05/02/2024 05/02/2024 - Simon Heim
Titular dos direitos

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

Transferido a

5 de fevereiro de 2024

DOI

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Licença

Creative Commons BY 4.0

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dbGaP phs000958 CSER-MedSeq

This subject consent data table contains subject IDs, consent group information, and enrollment into the caridology or primary care arm.

pht004957
Descrição

pht004957

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Descrição

SUBJECT_ID

Tipo de dados

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Descrição

CONSENT

Tipo de dados

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Indicates which arm of the study patient was recruited into
Descrição

ENROLLMENT_ARM

Tipo de dados

text

Alias
UMLS CUI [1,1]
C5400986
UMLS CUI [1,2]
C1522602

Similar models

This subject consent data table contains subject IDs, consent group information, and enrollment into the caridology or primary care arm.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
pht004957
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
General Research Use (GRU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
Item
Indicates which arm of the study patient was recruited into
text
C5400986 (UMLS CUI [1,1])
C1522602 (UMLS CUI [1,2])
Code List
Indicates which arm of the study patient was recruited into
CL Item
Cardiology (C)
C0007189 (UMLS CUI [1,1])
CL Item
Primary Care (P)
C0033137 (UMLS CUI [1,1])

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