Evidence map›Paper›PMID 25147769›Full record

ArticleInternational journal of circumpolar health2014

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

Open access · goldAbstract read
In one paragraph

Article in International journal of circumpolar health, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.1field-weighted citation impact, top 54% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Assisted Reproductive Technologies and Oocyte Donation.Iranian journal of public health · 2025
    Article
  2. Article
  3. The attitude of young people in the city of Yakutsk to DNA-testing.International journal of circumpolar health · 2021
    Article
  4. Review
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Sardana K KononovaYakutsk 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.
Oksana G SidorovaYakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russia.
Sardana A FedorovaYakutsk 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.
Fedor A PlatonovInstitute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia.
Vera L IzhevskayaResearch Centre for Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russia.
Elza K KhusnutdinovaInstitute for Biochemistry and Genetics, Ufa Scientific Centre of the Russian Academy of Sciences, Ufa, Russia.
North-Eastern Federal University · RUInstitute of Biochemistry and Genetics of Ufa Scientific Centre · RUResearch Centre for Medical Genetics · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrenatal 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.

objectiveThe 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.

methodsThe methods used in the research are genetic counselling, invasive chorionic villus biopsy procedures, molecular diagnosis, social and demographic characteristics of patients.

resultsIn 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.

conclusionIt is necessary to develop differentiated ethical approaches depending on the mode of inheritance, age of manifestation, and clinical polymorphism of hereditary disease.

Indexed as

HeterozygoteAdultBioethical IssuesFemaleGenetic CounselingGenetic Diseases, InbornGenetic TestingHealth Knowledge, Attitudes, PracticeHumansMiddle AgedPregnancyPrenatal DiagnosisRegistriesRisk AssessmentSiberiabioethicsDNA testingdynamic mutationsgenetic counsellinghereditary diseasesprenatal diagnosis

Identifiers

PMID25147769
PMCPMC4111875
OpenAlexW2071162316

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.