ID

45919

Beskrivning

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

Länk

dbGaP study = phs000958

Nyckelord

  1. 2024-02-05 2024-02-05 - Simon Heim
Rättsinnehavare

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

Uppladdad den

5 februari 2024

DOI

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Licens

Creative Commons BY 4.0

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dbGaP phs000958 CSER-MedSeq

This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

pht004958
Beskrivning

pht004958

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

SUBJECT_ID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beskrivning

SAMPLE_ID

Datatyp

string

Alias
UMLS CUI [1,1]
C1299222
Sample Use
Beskrivning

SAMPLE_USE

Datatyp

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht004958
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
Item
Sample Use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
SNP genotypes obtained using standard or custom microarrays (Array_SNP)
C2347026 (UMLS CUI [1,1])
C0042153 (UMLS CUI [1,2])
C0752046 (UMLS CUI [1,3])
C1449575 (UMLS CUI [1,4])
CL Item
Whole genome sequencing (Seq_DNA_WholeGenome)
C3640076 (UMLS CUI [1,1])

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