title: 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.
  
  
  CONCLUSIONS
  It is necessary to develop differentiated ethical approaches depending on the mode of inheritance, age of manifestation, and clinical polymorphism of hereditary disease.
authors.affiliation: Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russia ; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.
authors.forename: Sardana K
authors.initials: SK
authors.lastname: Kononova
authors.affiliation: Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russia.
authors.forename: Oksana G
authors.initials: OG
authors.lastname: Sidorova
authors.affiliation: Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russia ; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.
authors.forename: Sardana A
authors.initials: SA
authors.lastname: Fedorova
authors.affiliation: Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.
authors.forename: Fedor A
authors.initials: FA
authors.lastname: Platonov
authors.affiliation: Research Centre for Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russia.
authors.forename: Vera L
authors.initials: VL
authors.lastname: Izhevskaya
authors.affiliation: Institute for Biochemistry and Genetics, Ufa Scientific Centre of the Russian Academy of Sciences, Ufa, Russia.
authors.forename: Elza K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D000328:Adult; D026688:Bioethical Issues; D005260:Female; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000517:prevention & control*; D005820:Genetic Testing / Q000941:ethics*; D007722:Health Knowledge, Attitudes, Practice; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000941:ethics*; D012042:Registries; D018570:Risk Assessment; D012800:Siberia
keywords: DNA testing; bioethics; dynamic mutations; genetic counselling; hereditary diseases; prenatal diagnosis