Int J Circumpolar Health. 2014 Jul 24;73. doi: 10.3402/ijch.v73.25062. eCollection 2014.
Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia).
Abstract
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.
KEYWORDS:
DNA testing; bioethics; dynamic mutations; genetic counselling; hereditary diseases; prenatal diagnosis
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