Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia)

References

• Holtzman NA. The UK's Policy on genetic testing services supplied direct to the public – two spheres and two tiers. Community Genet. 1998; 1: 49–52.
   Google Scholar
• Holtzman NA. Promoting safe and effective genetic tests in the United States: work of the task force on genetic testing. Clin Chem. 1999; 45: 732–8.
   Web of Science ®Google Scholar
• Thomson G, Esposito MS. The genetic of complex disease. Trends Cell Biol. 1999; 9: 17–20.
   Google Scholar
• Korf BR, Rehm HL. New approaches to molecular diagnosis. JAMA. 2013; 309: 1511–21.
   PubMed Web of Science ®Google Scholar
• Natrajan R, Reis-Filho JS. Next-generation sequencing applied to molecular diagnostics. Expert Rev Mol Diagn. 2011; 11: 425–44.
   PubMed Web of Science ®Google Scholar
• Kash KM, Ortega-Verdejo K, Dabney MK, Holland JC, Miller DG, Osborne MP. Psychological aspects of cancer genetics: women at risk for breast and ovarian cancer. Semin Surg Oncol. 2000; 18: 333–8.
   PubMed Web of Science ®Google Scholar
• van Maarle MC, Stouthard ME, Marang-van de Mheen PJ, Klazinga NS, Bonsel GJ. How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia?. Community Genet. 2001; 4: 244–52.
   Google Scholar
• Bellcross CA, Page PZ, Meaney-Delman D. Direct-to-consumer personal genome testing and cancer risk prediction. Cancer J. 2012; 18: 293–302.
   PubMed Web of Science ®Google Scholar
• Billings P, Kohn M, de Cuevas M, Beckwith J, Alper JS, Natowicz MR. Discrimination as a consequence of genetic screening. Am J Hum Genet. 1992; 50: 476–82.
   PubMed Web of Science ®Google Scholar
• Nedelcu R, Blazer K, Schwerin B, Gambol P, Mantha P, Uman G, etal. Genetic discrimination: the clinician perspective. Clin Genet. 2004; 66: 311–17.
   Web of Science ®Google Scholar
• Su B, Macer D. Privacy versus public interest in developing human genetic databases. Eubios J Asian Int Bioeth. 2004; 14: 82–4.
   Google Scholar
• Wroe AL, Salkovskis PM, Rimes KA. The prospect of predictive testing for personal risk: attitudes and decision making. Behav Res Ther. 1998; 36: 599–619.
   Web of Science ®Google Scholar
• Taylor SD. Predictive genetic test decisions for Huntington's disease: context, appraisal and new moral imperatives. Soc Sci Med. 2004; 58: 137–49.
   PubMed Web of Science ®Google Scholar
• Smith CO, Lipe HP, Bird TD. Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. Arch Neurol. 2004; 61: 875–80.
   PubMedGoogle Scholar
• Klitzman R. Views of discrimination among individuals confronting genetic disease. J Genet Couns. 2010; 19: 68–83.
   Web of Science ®Google Scholar
• Fletcher JC, Berg K, Tranoy KE. Ethical aspects of medical genetics. A proposal for guidelines in genetic counseling, prenatal diagnosis and screening. Clin Genet. 1985; 27: 199–205.
   PubMed Web of Science ®Google Scholar
• Kolker A, Burke BM, Phillips JU. Attitudes about abortion of women who undergo prenatal diagnosis. Res Sociol Health Care. 1991; 9: 49–73.
   PubMedGoogle Scholar
• Kowalcek I, Huber G, Mühlhof A, Gembruch U. Prenatal medicine related to stress and depressive reactions of pregnant women and their partners. J Perinat Med. 2003; 31: 216–24.
   PubMed Web of Science ®Google Scholar
• Cederholm M, Haglund B, Axelsson O. Infant morbidity following amniocentesis and chorionic villus sampling for prenatal karyotyping. BJOG. 2005; 112: 394–402.
   PubMed Web of Science ®Google Scholar
• Lunkes A, Goldfarb LG, Platonov FA, Alexeev VP, Duenas-Barjas E, Gajdusek DC, etal. Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locus. Exp Neurol. 1994; 126: 310–12.
   Web of Science ®Google Scholar
• Goldfarb LG, Vasconcelos O, Platonov FA, Lunkes A, Kipnis V, Kononova S, etal. Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol. 1996; 4: 500–6.
   Google Scholar
• Gorbunova VN, Saveleva-Vasileva EA, Krasilnikov VV. Diseases of neuromuscular system. Molecular neurology. 2000; St. Petersburg: Intermedica. [in Russian]..
   Google Scholar
• Suhomyasova AL, Fedorova SA, Korotov MN, Maksimova NR, Alekseeva SP, Sidorova OG, etal. Myotonic dystrophy in the Republic of Sakha (Yakutia): population features and approaches to DNA testing. Yakut Med J. 2003; 2: 12–7 [in Russian].
   Google Scholar
• Maksimova NR, Suhomjasova AL, Nogovicyna AN, Puzyrev VP. Ethnospecific hereditary pathology in the Republic of Sakha (Yakutia). Yakut Med J. 2009; 2: 15–9 [in Russian].
   Google Scholar
• WHO. Proposed international guidelines on ethical issues in medical genetics and genetic services. 1997; Geneva: Report of World Health Organization meeting on ethical issues in medical genetics.
   Google Scholar
• Material from Wikipedia – the free encyclopedia. Available from: http://ru.wikipedia.org/wiki/Yakutia..
   Google Scholar
• Platonov FA, Illarioshkin SN, Kononova SK, Gogolev MP, Ivanova-Smolenskaja IA. Spinocerebellar ataxy type I in Yakutia: prevalence and clinical-genetics comparisons. Med Genet. 2004; 5: 242–8 [in Russian].
   Google Scholar
• Mathew CC. The isolation of high molecular weight eukaryotic DNA. Methods Mol Biol. 1985; 2: 31–4.
   PubMedGoogle Scholar
• Orr HT, Chang MY, Banfi S, Kwiatkowski TJ Jr , Servadio A, Beaudet AL, etal. Expansion of an unstable trinukleotide CAG repeat in spinoserebellar ataxia type 1. Nature Genet. 1993; 4: 221–6.
   PubMed Web of Science ®Google Scholar
• Brook JD, Mc Currach ME, Harley HG, Buckler AJ, Church D, Aburatani H, etal. Molecular basis of miotonic distrophy: expansion of a trinucleotide (CTG) repeat at the 3′end of a transcript encoding a protein kinase family member. Cell. 1992; 4: 799–808.
   Google Scholar
• Rodrigues CSM, de Oliveira VZ, Camargo G, da Silva Osório CM, de Castilhos RM, Saraiva-Pereira ML, etal. Presymptomatic Testing for Neurogenetic Diseases in Brazil: Assessing Who Seeks and Who Follows through with Testing. J Genet Counsel. 2012; 21: 101–12.
   Web of Science ®Google Scholar
• Cruz MT, Velázquez PL, González ZY, Aguilera RR, Velázquez SM, Vázquez MY, etal. Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience. J Community Genet. 2013; 4: 451–60.
   Google Scholar
• Cruz MT, Velázquez PL, González ZY, Aguilera RR, Velázquez SM, Vázquez MY, etal. The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from. Clin Genet. 2013; 83: 518–24.
   Web of Science ®Google Scholar
• Stepanova SK, Zaharova VA, Tapuev EV, Suhomjasova AL, Maksimova NR. Pusirev VP, Tomski MI. Molecular and genetic methods of diagnostics of monogenic diseases in the Republic of Sakha (Yakutia). Genetic investigations of the population of Yakutia. Yakutsk: CIP NRB Sakha. 233–45.
   Google Scholar
• Mariño TC, Armiñán RR, Cedeño HJ, Mesa JM, Zaldivar YG, Rodríguez RA, etal. Ethical dilemmas in genetic testing: examples from the Cuban program for predictive diagnosis of hereditary ataxias. J Genet Couns. 2011; 20: 241–8.
   Web of Science ®Google Scholar
• Catherine MG, Stephanie SA, Shannan DD, Jessica LS. Genetic counselors’ experiences with adolescent patients in prenatal genetic counseling. J Genet Couns. 2011; 20: 178–91.
   Web of Science ®Google Scholar