Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks
Currently, a significant part of research in the fields of human and medical genetics is carried out using tissue samples, genealogical, population, medical and personal data. Their use is of particular relevance in the “genome era”, since only joint analysis of genomic data and health status of the...
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| Format: | Article |
| Language: | Russian |
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«SILICEA-POLIGRAF» LLC
2022-01-01
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| Series: | Кардиоваскулярная терапия и профилактика |
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| Online Access: | https://cardiovascular.elpub.ru/jour/article/view/3120 |
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| author | E. E. Baranova Ksenia Dmitrievna Fedulova A. S. Glotov V. L. Izhevskaya |
| author_facet | E. E. Baranova Ksenia Dmitrievna Fedulova A. S. Glotov V. L. Izhevskaya |
| author_sort | E. E. Baranova |
| collection | DOAJ |
| description | Currently, a significant part of research in the fields of human and medical genetics is carried out using tissue samples, genealogical, population, medical and personal data. Their use is of particular relevance in the “genome era”, since only joint analysis of genomic data and health status of the population is crucial for understanding how genes are associated with health and disease. Genetic studies of adults without symptoms of diseases are carried out to obtain data on a possible predisposition to multifactorial diseases, to establish the carrier status of autosomal recessive mutations as part of preconception care and to assess individual sensitivity to drugs. In addition, healthy individuals can be tested to detect an inherited disease at presymptomatic stage. This situation increasingly emphasizes the importance of storing data on genome sequencing or any other patient tests for subsequent data reanalysis, as well as their safety, including biosamples from an individual and one’s family. The review article, based on international experience, summarizes guidelines for genetic testing of healthy individuals. The options for storing biological samples and related data are considered. |
| format | Article |
| id | doaj-art-1b48977b28dd4c9db430a58cbd80b7cd |
| institution | DOAJ |
| issn | 1728-8800 2619-0125 |
| language | Russian |
| publishDate | 2022-01-01 |
| publisher | «SILICEA-POLIGRAF» LLC |
| record_format | Article |
| series | Кардиоваскулярная терапия и профилактика |
| spelling | doaj-art-1b48977b28dd4c9db430a58cbd80b7cd2025-08-20T02:59:14Zrus«SILICEA-POLIGRAF» LLCКардиоваскулярная терапия и профилактика1728-88002619-01252022-01-0120810.15829/1728-8800-2021-31202414Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanksE. E. Baranova0Ksenia Dmitrievna Fedulova1A. S. Glotov2V. L. Izhevskaya3Russian Medical Academy of Continuous Professional Education; LLC EvogenRussian Medical Academy of Continuous Professional Education; LLC EvogenD.O. Ott Research Institute of Obstetrics, Gynecology, and ReproductologyResearch Centre for Medical GeneticsCurrently, a significant part of research in the fields of human and medical genetics is carried out using tissue samples, genealogical, population, medical and personal data. Their use is of particular relevance in the “genome era”, since only joint analysis of genomic data and health status of the population is crucial for understanding how genes are associated with health and disease. Genetic studies of adults without symptoms of diseases are carried out to obtain data on a possible predisposition to multifactorial diseases, to establish the carrier status of autosomal recessive mutations as part of preconception care and to assess individual sensitivity to drugs. In addition, healthy individuals can be tested to detect an inherited disease at presymptomatic stage. This situation increasingly emphasizes the importance of storing data on genome sequencing or any other patient tests for subsequent data reanalysis, as well as their safety, including biosamples from an individual and one’s family. The review article, based on international experience, summarizes guidelines for genetic testing of healthy individuals. The options for storing biological samples and related data are considered.https://cardiovascular.elpub.ru/jour/article/view/3120genetic testinghealthy individualsguidelines |
| spellingShingle | E. E. Baranova Ksenia Dmitrievna Fedulova A. S. Glotov V. L. Izhevskaya Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks Кардиоваскулярная терапия и профилактика genetic testing healthy individuals guidelines |
| title | Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks |
| title_full | Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks |
| title_fullStr | Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks |
| title_full_unstemmed | Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks |
| title_short | Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks |
| title_sort | guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks |
| topic | genetic testing healthy individuals guidelines |
| url | https://cardiovascular.elpub.ru/jour/article/view/3120 |
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