Unique ID issued by UMIN | UMIN000024288 |
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Receipt number | R000027931 |
Scientific Title | Pilot study of return of genetic results to individual participants of the large cohort study |
Date of disclosure of the study information | 2016/10/06 |
Last modified on | 2023/04/10 15:12:38 |
Pilot study of return of genetic results to individual participants of the large cohort study
Pilot study of return of genetic results to individual participants of the large cohort study
Pilot study of return of genetic results to individual participants of the large cohort study
Pilot study of return of genetic results to individual participants of the large cohort study
Japan |
familial hypercholesterolemia
Endocrinology and Metabolism | Not applicable | Adult |
Others
YES
The aim of this exploratory study is to establish the framework and system of return of individual genetic results for research participants in the large biobank-based population cohort. We measure the psychosocial impact of return of the genetic results of familial hypercholesterolemia.
Others
Attitudes, psychosocial impacts, distress and experiences of return of the genetic results of familial hypercholesterolemia
Exploratory
Explanatory
Primary outcome: Psychosocial impacts, distress and experiences of return of genetic results
Measures: K6, POMS2, IES-R, Questionnaire for genetic literacy, Questionnaires and interviews for experiences of return of genetic results
Timeline: Pre, post, after 6 months, 12 months
Secondary outcome:
1) Validation of genetic analysis
2) Attitudes, satisfactions, and effects of Genetic Lecture
Interventional
Single arm
Non-randomized
Open -no one is blinded
Self control
NO
NO
Institution is not considered as adjustment factor.
NO
No need to know
1
Educational,Counseling,Training
Other |
Participants of Tohoku Medical Megabank Cohort, with age over 20 years-old, and TC>250 mg/dl, and/or LDL-C>180 mg/dl, and/or a history of treatments of hyperlipidemia are returned the genetic results of familial hypercholesterolemia (LDLR, PCSK9, APOB), after the informed consent of this pilot study.
20 | years-old | <= |
Not applicable |
Male and Female
1) Participants of Tohoku Medical Megabank Cohort
2) Age over 20 years-old
3) Participants whose genome was analyzed
4) TC>250 mg/dl, and/or LDL-C>180 mg/dl, and/or a history of treatments of hyperlipidemia
Participants who checked : No return of results
135
1st name | HIROSHI |
Middle name | |
Last name | KAWAME |
Tohoku University Tohoku Medical Megabank Organization
Group of return of genomic results
9808573
980-8573 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan
022-274-6017
hkawame@megabank.tohoku.ac.jp
1st name | HIROSHI |
Middle name | |
Last name | KAWAME |
Tohoku University Tohoku Medical Megabank Organization
Group of return of genomic results
9808573
980-8573 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan
022-274-5998
hkawame@megabank.tohoku.ac.jp
Tohoku University Tohoku Medical Megabank Organization
AMED (Japan Agency of Medical Research and Development)
Government offices of other countries
Japan
Iwate Tohoku Medical Megabank Organization
Tohoku University Tohoku Medical Megabank Organization
980-8573 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8573, Japan
022-728-3965
tommo-ken@grp.tohoku.ac.jp
NO
東北メディカル・メガバンク機構(宮城県)
地域支援気仙沼センター(宮城県)
地域支援大崎センター(宮城県)
地域支援石巻センター(宮城県)
地域支援多賀城センター(宮城県)
地域支援仙台センター(宮城県)
地域支援岩沼センター(宮城県)
地域支援白石センター(宮城県)
2016 | Year | 10 | Month | 06 | Day |
none
Partially published
none
196
Hiroshi Kawame 1, Akimune Fukushima 2, Nobuo Fuse 3, et al. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. J Hum Genet. 2022 Jan;67(1):9-17. doi: 10.1038/s10038-021-00952-8. Epub 2021 Jul 8
2023 | Year | 04 | Month | 10 | Day |
ostensibly healthy individuals in Miyagi and Iwate prefectures
The invitation letter about participation in the research was sent to the primary subjects via mail. After receiving a reply from those who wish to participate, they were selected as secondary subjects. Those subjects attended a genetic workshop about heredity and familial hypercholesterolemia, and obtained informed consent would be the final subjects. Blood sampling was performed to confirm genetic variants on genes of FH analyzed at Tohoku University Tohoku Medical Megabank Organization. Face-to-face explanation of the results of genome analysis . The final subjects have a questionnaire survey for 12 months after the results are disclosed.
None
Primary outcome
Psychosocial distress, experiences, opinion and attitudes to return of individual genomic results regarding familial hypercholesterolemia (FH)
Secondary outcome
1) Concordance of genomic analysis data by retesting
2) Satisfaction, usefulness, and awareness of genetic workshop
Preinitiation
2016 | Year | 09 | Month | 15 | Day |
2016 | Year | 11 | Month | 01 | Day |
2018 | Year | 03 | Month | 31 | Day |
2016 | Year | 10 | Month | 04 | Day |
2023 | Year | 04 | Month | 10 | Day |
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000027931
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