ID
46005
Description
Principal Investigator: Katrina Goddard, PhD, Kaiser Permanente Northwest - Center for Health Research Portland, OR, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000927 We will investigate the clinical implementation of genome sequencing (GS) for carrier screening to aid reproductive decision-making in adults. The study is organized into three inter-related Projects. The study population will include women and their partners who receive pre-conception testing. In *Project 1*, we will conduct a Randomized Clinical Trial to test clinical implementation of WGS compared with usual care. We will integrate WGS results with the electronic medical record (EMR), and measure outcomes from patient and physician perspectives. In *Project 2*, we will perform whole genome sequencing, including validation and interpretation of the identified variants to identify "actionable variants", meaning variants deemed worthy of reporting. This will include a robust approach using a Return of Results Committee (RORC) for determination of reportable results. In *Project 3*, we will evaluate the ethical and psychosocial implications of expanded carrier screening using WGS for the return of carrier status and secondary findings, and measure the impact on downstream healthcare utilization and cost. Two groups of women are identified through the electronic medical record. The first group has a clinical carrier screening test, usually Cystic Fibrosis (CF), ordered and completed as part of a preconception planning visit. The second group has a carrier screening test, usually CF, performed during pregnancy, they have delivered their baby and are planning a future pregnancy. Eligible women are randomized to either usual care or genome sequencing (GS). Women randomized into the usual care arm have already received their clinical genetic test. These women will not receive genome sequencing. Women in the GS arm will receive their carrier status results for about 700 gene/condition pairs approximately three months after randomization. If there are results to return, women come in for a genetic counseling session. If there are no results, a letter is sent in the mail. Incidental findings (IF) are returned about one month later. As with the carrier status results, all IF are returned in person, and if there are no results a letter is sent in the mail. If a participant is found to be a carrier of an autosomal recessive condition, her male partner is then eligible and invited to participate in the study and receive GS.
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Versions (1)
- 28/04/2024 28/04/2024 - Madita Rudolph
Détendeur de droits
Katrina Goddard, PhD, Kaiser Permanente Northwest - Center for Health Research Portland, OR, USA
Téléchargé le
28 avril 2024
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000927 CSER: Clinical Implementation of Carrier Testing Using NGS (NextGen)
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains 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.
- This subject phenotype table contains subject ID, age, gender, race and phenotype of participant.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, and name of the center which conducted sequencing.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains 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.
- This subject phenotype table contains subject ID, age, gender, race and phenotype of participant.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, and name of the center which conducted sequencing.
C0680251 (UMLS CUI [1,2])
C0086287 (UMLS CUI [1,2])
C1513380 (UMLS CUI [1,3])
C0679933 (UMLS CUI [1,4])
C0232973 (UMLS CUI [1,5])
C0564215 (UMLS CUI [1,6])
C0376245 (UMLS CUI [1,7])
C0001779 (UMLS CUI [1,8])
C0032992 (UMLS CUI [1,9])
C0680251 (UMLS CUI [2,1])
C0086287 (UMLS CUI [2,2])
C1320549 (UMLS CUI [2,3])
C0430022 (UMLS CUI [2,4])
C0549206 (UMLS CUI [2,5])
C0032992 (UMLS CUI [2,6])
C1298908 (UMLS CUI [2,7])
C1512693 (UMLS CUI [3,1])
C0086582 (UMLS CUI [3,2])
C0682323 (UMLS CUI [3,3])
C2347180 (UMLS CUI [3,4])
C0007294 (UMLS CUI [3,5])