ID

45919

Beschreibung

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

Stichworte

  1. 05.02.24 05.02.24 - Simon Heim
Rechteinhaber

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

Hochgeladen am

5. Februar 2024

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000958 CSER-MedSeq

This subject phenotype data table includes subject sex, age, ethnicity, race (n=6 variables), and cardiomyopathy diagnosis.

pht004959
Beschreibung

pht004959

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Beschreibung

SUBJECT_ID

Datentyp

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Gender of subject
Beschreibung

sex

Datentyp

text

Alias
UMLS CUI [1,1]
C0079399
Subject age at time of testing
Beschreibung

age

Datentyp

text

Maßeinheiten
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1442880
UMLS CUI [1,3]
C0039593
years
Subject self identified as hispanic latin spanish origin
Beschreibung

Hispanic_Latino_Spanish_Origin

Datentyp

text

Alias
UMLS CUI [1,1]
C0517218
UMLS CUI [1,2]
C3481908
Subject self identified as indian alaska native race
Beschreibung

American_Indian_Alaska_Native_Race

Datentyp

text

Alias
UMLS CUI [1,1]
C0517218
UMLS CUI [1,2]
C0034510
UMLS CUI [1,3]
C1515945
Subject self identified as asian race
Beschreibung

Asian_Race

Datentyp

text

Alias
UMLS CUI [1,1]
C0517218
UMLS CUI [1,2]
C0034510
UMLS CUI [1,3]
C0078988
Subject self identified as black african american race
Beschreibung

Black_African_American_Race

Datentyp

text

Alias
UMLS CUI [1,1]
C0517218
UMLS CUI [1,2]
C0034510
UMLS CUI [1,3]
C0085756
Subject self identified as pacific islander race
Beschreibung

Pacific_Islander_Race

Datentyp

text

Alias
UMLS CUI [1,1]
C0034510
UMLS CUI [1,2]
C0517218
UMLS CUI [1,3]
C1513907
Subject self identified as white race
Beschreibung

White_Race

Datentyp

text

Alias
UMLS CUI [1,1]
C0517218
UMLS CUI [1,2]
C0034510
UMLS CUI [1,3]
C0007457
Subject self identified as other race
Beschreibung

Other_Race

Datentyp

text

Alias
UMLS CUI [1,1]
C0517218
UMLS CUI [1,2]
C0034510
UMLS CUI [1,3]
C0205394
Cardiomyopathy diagnosis in participant
Beschreibung

Cardiomyopathy_diagnosis

Datentyp

text

Alias
UMLS CUI [1,1]
C0878544
UMLS CUI [1,2]
C0011900

Ähnliche Modelle

This subject phenotype data table includes subject sex, age, ethnicity, race (n=6 variables), and cardiomyopathy diagnosis.

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
pht004959
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Gender of subject
text
C0079399 (UMLS CUI [1,1])
Code List
Gender of subject
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
age
Item
Subject age at time of testing
text
C0001779 (UMLS CUI [1,1])
C1442880 (UMLS CUI [1,2])
C0039593 (UMLS CUI [1,3])
Item
Subject self identified as hispanic latin spanish origin
text
C0517218 (UMLS CUI [1,1])
C3481908 (UMLS CUI [1,2])
Code List
Subject self identified as hispanic latin spanish origin
CL Item
unknown (-1)
C0439673 (UMLS CUI [1,1])
CL Item
no (0)
C1298908 (UMLS CUI [1,1])
CL Item
yes (1)
C1705108 (UMLS CUI [1,1])
Item
Subject self identified as indian alaska native race
text
C0517218 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C1515945 (UMLS CUI [1,3])
Code List
Subject self identified as indian alaska native race
CL Item
unknown (-1)
C0439673 (UMLS CUI [1,1])
CL Item
no (0)
C1298908 (UMLS CUI [1,1])
CL Item
yes (1)
C1705108 (UMLS CUI [1,1])
Item
Subject self identified as asian race
text
C0517218 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0078988 (UMLS CUI [1,3])
Code List
Subject self identified as asian race
CL Item
unknown (-1)
C0439673 (UMLS CUI [1,1])
CL Item
no (0)
C1298908 (UMLS CUI [1,1])
CL Item
yes (1)
C1705108 (UMLS CUI [1,1])
Item
Subject self identified as black african american race
text
C0517218 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0085756 (UMLS CUI [1,3])
Code List
Subject self identified as black african american race
CL Item
unknown (-1)
C0439673 (UMLS CUI [1,1])
CL Item
no (0)
C1298908 (UMLS CUI [1,1])
CL Item
yes (1)
C1705108 (UMLS CUI [1,1])
Item
Subject self identified as pacific islander race
text
C0034510 (UMLS CUI [1,1])
C0517218 (UMLS CUI [1,2])
C1513907 (UMLS CUI [1,3])
Code List
Subject self identified as pacific islander race
CL Item
unknown (-1)
C0439673 (UMLS CUI [1,1])
CL Item
no (0)
C1298908 (UMLS CUI [1,1])
CL Item
yes (1)
C1705108 (UMLS CUI [1,1])
Item
Subject self identified as white race
text
C0517218 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0007457 (UMLS CUI [1,3])
Code List
Subject self identified as white race
CL Item
unknown (-1)
C0439673 (UMLS CUI [1,1])
CL Item
no (0)
C1298908 (UMLS CUI [1,1])
CL Item
yes (1)
C1705108 (UMLS CUI [1,1])
Item
Subject self identified as other race
text
C0517218 (UMLS CUI [1,1])
C0034510 (UMLS CUI [1,2])
C0205394 (UMLS CUI [1,3])
Code List
Subject self identified as other race
CL Item
unknown (-1)
C0439673 (UMLS CUI [1,1])
CL Item
no (0)
C1298908 (UMLS CUI [1,1])
CL Item
yes (1)
C1705108 (UMLS CUI [1,1])
Item
Cardiomyopathy diagnosis in participant
text
C0878544 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
Code List
Cardiomyopathy diagnosis in participant
CL Item
Dilated cardiomyopathy (D)
C0007193 (UMLS CUI [1,1])
CL Item
Hypertrophic cardiomyopathy (H)
C0007194 (UMLS CUI [1,1])
CL Item
not assessed (NA)
C3846720 (UMLS CUI [1,1])

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