Survey on the attitude of residents of the Republic of Sakha (Yakutia) to genetic screening for common hereditary diseases

The carriage of pathogenic genetic variants by healthy people leads to an increased risk of having children with autosomal recessive diseases. Genetic screening determines the carrier status of known hereditary diseases. Medical technologies make it possible to have healthy children, even if both parents are carriers of a hereditary disease. In this regard, the introduction of genetic screening is relevant for healthcare. The purpose of the work: to increase the efficiency of genetic screening of the population of Yakutia. Material and methods. The questionnaire survey involved 271 respondents over the age of 18, of which 222 were women (81.9%) and 49 were men (18.1%). Thesample of the pilot study consisted of rural and urban residents. The questionnaire included 21 questions concerning the social status of the respondents and their attitude towards genetic screening. Results. More than 70% of respondents expressed a positive attitude towards genetic screening, and 89.3% agree to undergo DNA testing. The main factors that determine the attitude of respondents to genetic screening are the place of residence (urban, rural) and the level of education. Results. More than 70% of respondents expressed a positive attitude towards genetic screening, and 89.3% agree to undergo DNA testing. The main factors that determine the attitude of respondents to genetic screening are the place of residence (urban, rural) and the level of education. A low level of awareness (37.6%) about the carriage of pathogenic variants in the genes of hereditary diseases by healthy people was established. Conclusion. Raising awareness of the carriers of hereditary diseases, especially urban residents and young families with children, can increase the number of participants in the genetic screening program.

1. Kraft S.A., Duenas D., Wilfond B.S., et.al. The evolving landscape of expanded carrier screening: challenges and opportunities. Genetic in Medicine. 2019;21(4):790-797.

2. Antonarakis S.E. Carrier screening for recessive disorders. Nature Reviews Genetics. 2019;20(9):549-561.

3. Gregg A.R., Edwards J.D. Prenatal genetic carrier screening in the genomic age. Seminars in Perinatology. 2018;42(5):303-306

4. Cunnings J.P. The lifetime economic burden of monogenic diseases and the social motivations for their treatment with Genetic therapy. Rochester Institute of Technology. 2018.

5. Aiello L.B., Chiatti B.D. Primer in Genetics and Genomics, Article 4 – Inheritance patterns. Biol Res Nurs. 2017;19(4):465-472

6. Ficarazzi F., Vecchi M., Ferrari M., Pierotti M.A. Towards population based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives. Breast. 2021; 58:121 9. doi: 10.1016/j.breast.2021.04.011

7. Baranova E.E., Fedulova K.D., Glotov A.S., Izhevskaya V.L. Rekomendatsii po geneticheskomu testirovaniyu vzroslykh zdorovykh lits, deponiruyushchikh svoi obraztsy i informatsiyu v bioresursnyye kollektsii i biobanki [Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks]. Kardiovaskulyarnaya terapiya i profilaktika [Cardiovascular Therapy and Prevention]. 2021;20(8):3120. (In Russ.) https://doi.org/10.15829/1728-8800-2021-3120

8. Gregg A.R., Aarabi M., Klugman S., et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) [published correction appears in Genet Med. 2021 Aug 27]. Genet Med. 2021;23(10):1793806. doi:10.1038/s4143602101203z

9. Revazyan K.Z., Meshkov A.N., Ershova A.I., et al. Geneticheskiy skrining na geterozigotnoye nositel’stvo mutatsiy, vyzyvayushchikh razvitiye monogennykh retsessivnykh zabolevaniy [Genetic screening for heterozygous carriage of mutations that cause the development of monogenic recessive diseases]. Profilakticheskaya Meditsina [Preventive medicine]. 2020;23(6):111-117. (In Russ.)https://doi.org/10.17116/profmed202023062111