Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia)
Background: Prenatal diagnosis of congenital and hereditary diseases is a priority for the development of medical technologies in Russia. However, there are not many published research results on bioethical issues of prenatal DNA testing. Objective: The main goal of the article is to describe some o...
Published in: | International Journal of Circumpolar Health |
---|---|
Main Authors: | , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Taylor & Francis Group
2014
|
Subjects: | |
Online Access: | https://doi.org/10.3402/ijch.v73.25062 https://doaj.org/article/96413f07fbe647d48b514cfbb714fb80 |
id |
ftdoajarticles:oai:doaj.org/article:96413f07fbe647d48b514cfbb714fb80 |
---|---|
record_format |
openpolar |
spelling |
ftdoajarticles:oai:doaj.org/article:96413f07fbe647d48b514cfbb714fb80 2023-05-15T15:06:41+02:00 Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia) Sardana K. Kononova Oksana G. Sidorova Sardana A. Fedorova Fedor A. Platonov Vera L. Izhevskaya Elza K. Khusnutdinova 2014-07-01T00:00:00Z https://doi.org/10.3402/ijch.v73.25062 https://doaj.org/article/96413f07fbe647d48b514cfbb714fb80 EN eng Taylor & Francis Group http://www.circumpolarhealthjournal.net/index.php/ijch/article/download/25062/pdf_1 https://doaj.org/toc/2242-3982 2242-3982 doi:10.3402/ijch.v73.25062 https://doaj.org/article/96413f07fbe647d48b514cfbb714fb80 International Journal of Circumpolar Health, Vol 73, Iss 0, Pp 1-5 (2014) prenatal diagnosis bioethics hereditary diseases dynamic mutations genetic counselling DNA testing Arctic medicine. Tropical medicine RC955-962 article 2014 ftdoajarticles https://doi.org/10.3402/ijch.v73.25062 2022-12-31T16:05:00Z Background: Prenatal diagnosis of congenital and hereditary diseases is a priority for the development of medical technologies in Russia. However, there are not many published research results on bioethical issues of prenatal DNA testing. Objective: The main goal of the article is to describe some of the bioethical aspects of prenatal DNA diagnosis of hereditary diseases with late onset in genetic counselling practice in the Sakha Republic (Yakutia) – a far north-eastern region of Russia. Methods: The methods used in the research are genetic counselling, invasive chorionic villus biopsy procedures, molecular diagnosis, social and demographic characteristics of patients. Results: In 10 years, 48 (76%) pregnant women from families tainted with hereditary spinocerebellar ataxia type 1 and 15 pregnant women from families with myotonic dystrophy have applied for medical and genetic counselling in order to undergo prenatal DNA testing. The average number of applications is 7–8 per year. There are differences in prenatal genetic counselling approaches. Conclusion: It is necessary to develop differentiated ethical approaches depending on the mode of inheritance, age of manifestation, and clinical polymorphism of hereditary disease. Article in Journal/Newspaper Arctic Circumpolar Health International Journal of Circumpolar Health Sakha Republic Yakutia Directory of Open Access Journals: DOAJ Articles Arctic Sakha International Journal of Circumpolar Health 73 1 25062 |
institution |
Open Polar |
collection |
Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
prenatal diagnosis bioethics hereditary diseases dynamic mutations genetic counselling DNA testing Arctic medicine. Tropical medicine RC955-962 |
spellingShingle |
prenatal diagnosis bioethics hereditary diseases dynamic mutations genetic counselling DNA testing Arctic medicine. Tropical medicine RC955-962 Sardana K. Kononova Oksana G. Sidorova Sardana A. Fedorova Fedor A. Platonov Vera L. Izhevskaya Elza K. Khusnutdinova Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia) |
topic_facet |
prenatal diagnosis bioethics hereditary diseases dynamic mutations genetic counselling DNA testing Arctic medicine. Tropical medicine RC955-962 |
description |
Background: Prenatal diagnosis of congenital and hereditary diseases is a priority for the development of medical technologies in Russia. However, there are not many published research results on bioethical issues of prenatal DNA testing. Objective: The main goal of the article is to describe some of the bioethical aspects of prenatal DNA diagnosis of hereditary diseases with late onset in genetic counselling practice in the Sakha Republic (Yakutia) – a far north-eastern region of Russia. Methods: The methods used in the research are genetic counselling, invasive chorionic villus biopsy procedures, molecular diagnosis, social and demographic characteristics of patients. Results: In 10 years, 48 (76%) pregnant women from families tainted with hereditary spinocerebellar ataxia type 1 and 15 pregnant women from families with myotonic dystrophy have applied for medical and genetic counselling in order to undergo prenatal DNA testing. The average number of applications is 7–8 per year. There are differences in prenatal genetic counselling approaches. Conclusion: It is necessary to develop differentiated ethical approaches depending on the mode of inheritance, age of manifestation, and clinical polymorphism of hereditary disease. |
format |
Article in Journal/Newspaper |
author |
Sardana K. Kononova Oksana G. Sidorova Sardana A. Fedorova Fedor A. Platonov Vera L. Izhevskaya Elza K. Khusnutdinova |
author_facet |
Sardana K. Kononova Oksana G. Sidorova Sardana A. Fedorova Fedor A. Platonov Vera L. Izhevskaya Elza K. Khusnutdinova |
author_sort |
Sardana K. Kononova |
title |
Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia) |
title_short |
Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia) |
title_full |
Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia) |
title_fullStr |
Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia) |
title_full_unstemmed |
Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia) |
title_sort |
bioethical issues of preventing hereditary diseases with late onset in the sakha republic (yakutia) |
publisher |
Taylor & Francis Group |
publishDate |
2014 |
url |
https://doi.org/10.3402/ijch.v73.25062 https://doaj.org/article/96413f07fbe647d48b514cfbb714fb80 |
geographic |
Arctic Sakha |
geographic_facet |
Arctic Sakha |
genre |
Arctic Circumpolar Health International Journal of Circumpolar Health Sakha Republic Yakutia |
genre_facet |
Arctic Circumpolar Health International Journal of Circumpolar Health Sakha Republic Yakutia |
op_source |
International Journal of Circumpolar Health, Vol 73, Iss 0, Pp 1-5 (2014) |
op_relation |
http://www.circumpolarhealthjournal.net/index.php/ijch/article/download/25062/pdf_1 https://doaj.org/toc/2242-3982 2242-3982 doi:10.3402/ijch.v73.25062 https://doaj.org/article/96413f07fbe647d48b514cfbb714fb80 |
op_doi |
https://doi.org/10.3402/ijch.v73.25062 |
container_title |
International Journal of Circumpolar Health |
container_volume |
73 |
container_issue |
1 |
container_start_page |
25062 |
_version_ |
1766338236794273792 |