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

Кононова, С.К.; Sidorova, Oksana G.; Fedorova, Sardana A.; Платонов, Федор Алексеевич; Ижевская, В. Л.; Хуснутдинова, Э. К.

doi:10.3402/ijch.v73.25062

Cited by 9 publications

(4 citation statements)

References 25 publications

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“…Annual SCA1 prevalence rate almost doubled during the study period, reaching current levels of 46–48 cases per 100,000. Analysis of the multi-year trend showed a significant increase in the SCA1 prevalence between 1994 and 2003 (Mann-Kendall test, Sen’s slope + 2.37 [CI 2.15–1.71], p value <0.0001), with stabilization after 2004 likely resulting from intensive genetic counseling efforts [14]. …”

Section: Resultsmentioning

confidence: 99%

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

et al. 2016

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Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100,000 rural population. The age at death correlates closely with the number of CAG triplet repeats in the mutant ATXN1 gene (r = −0.81); most patients with low-medium (39–55) repeat numbers survived until the end of reproductive age. The number of CAG repeats expands in meiosis, particularly in paternal transmissions; the average total increase in intergenerational transmissions in our cohort was estimated at 1.6 CAG repeats. The fertility rates of heterozygous carriers of 39–55 CAG repeats in women were no different from those of the general Sakha population. Overall, the survival of mutation carriers through reproductive age, unaltered fertility rates, low childhood mortality in SCA1-affected families, and intergenerational transmission of increasing numbers of CAG repeats in the ATXN1 gene indicate that SCA1 in the Sakha population will be maintained at high prevalence levels. The low (0.19) Crow’s index of total selection intensity in our SCA1 cohort implies that this mutation is unlikely to be eliminated through natural selection alone.

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Section: Resultsmentioning

confidence: 99%

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

et al. 2016

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“…At present, around 30 monogenic hereditary diseases are available for molecular-genetic diagnostics and that number will probably increase in the future. Concurrently, bioethics research was conducted in the field of using DNA testing in the republic [21] that included ethical issues of prenatal diagnostics for late-onset disorders [22].…”

Section: Introductionmentioning

confidence: 99%

“…We follow the principle of the "right to not know" when testing for late onset diseases. The ethical issues of prenatal diagnosis for SCA1 are described in more detail [22].…”

Section: Introductionmentioning

confidence: 99%

The attitude of young people in the city of Yakutsk to DNA-testing

Кононова¹,

Винокурова

Barashkov³

et al. 2021

International Journal of Circumpolar Health

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This pilot research was one of the first sociological studies with general questions on genetic testing with 300 participants, 75% of which were representatives of one people -the Sakha. A quantitative method was used: a sociological survey with quota sampling (Δ ± 5%), held in February -March 2018 in the City of Yakutsk (n = 350).Analysis of the survey results have shown that the respondents have low levels of awareness about the DNA-testing method: 72.3% "do not know about the method". Only 18.7% of respondents knew that since 2000 the Medical-Genetic Centre of the Sakha Republic (Yakutia) conducts DNA diagnostics for hereditary diseases, with 81.0% replying that they didn't know that. The questionnaire has shown that 90.3% of participants would like to undergo DNA-testing to identify their susceptibility to genetic diseases. Our questionnaire has shown high levels of self-identity among the young Sakha and their desire to learn about their belonging to a specific ethnicity (49.3%) with the assistance of DNA-testing. Furthermore, based on the answers relating to motivations for undergoing DNA-testing, we can say that the respondents have confirmed the peculiarities of their national mindset, specifically, high value of children for a family: "concern for the health of my future children" was a great motivator for taking the test (50.3%).

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“…pregnancies. 17 The UK Huntington s Disease Predictive Testing Consortium (HDPTC) was created in 1989 and collates anonymous data on predictive and prenatal testing for HD across the UK. The HDPTC identified that 21 of 202 high-risk pregnancies were continued 18 .…”

Section: Introductionmentioning

confidence: 99%

A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

et al. 2019

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Huntington s disease (HD) is a severe neurodegenerative condition that impacts the whole family. Prenatal diagnosis by direct or exclusion testing is available for couples at risk of transmitting HD to their children. An ethical problem can arise after prenatal diagnosis for HD if a known high risk pregnancy is continued to term: international guidelines emphasise that this situation should be avoided where possible, as it removes the resulting child s future right to make an informed, autonomous decision about predictive testing. The UK Huntington s Disease Predictive Testing Consortium recorded 21 pregnancies that were tested, identified as high-risk and then continued. In this qualitative study, health professionals reviewed the case notes of 15 of these pregnancies. This analysis generated guidelines for clinical practice. It is recommended that practitioners: i) remind couples of the long-term consequences of continuing a high risk pregnancy, ii) ensure couples understand the information provided, iii) collaborate closely with other professionals involved in the couple's prenatal care, iv) prepare couples for the procedural aspects of prenatal diagnosis and a possible termination of pregnancy, v) allow time for in-depth pre-test counselling, vi) explain the rationale for only making prenatal diagnosis available subject to conditions, whilst allowing for human ambivalence and acknowledging that these "conditions" cannot be enforced, vii) monitor the whole clinical process to ensure that it works "smoothly", viii) recommend couples do not disclose the result of the prenatal test to protect the confidentiality and autonomy of the future "high-risk" child, and ix) offer on-going contact and support.

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

Cited by 9 publications

References 25 publications

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

The attitude of young people in the city of Yakutsk to DNA-testing

A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

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