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The assessment of ethical aspects of the genetic counseling efficacy in Russian Federation

https://doi.org/10.25557/2073-7998.2020.11.39-46

Abstract

The study aim was to identify ethical problems arising in the process of genetic counseling while using modern methods of genetic testing (WGS, extended carrier screening). A special questionnaire was developed to assess the ethical dilemmas and attitudes of doctors working in the field of medical genetics. The questionnaire consists of 28 complex questions and contains a general part that allows you to evaluate the socio-demographic and professional characteristics of the doctor. The survey was attended by 30 specialists. For doctors it was important to help married couples have healthy children while prescribing genetic tests. The majority of the respondents believed that before marriage, responsible people should know if they or their partners are carriers of mutations that lead to inherited diseases that can be passed on to children. Also, most of the respondents agreed with the need for mandatory screening for the carriage of mutations in the most common monogenic diseases and neonatal screening for Duchenne muscular dystrophy and spinal muscular atrophy. In addition, experts support the creation of an ethical codex for geneticists. In this pilot study, the main vectors of ethical problems of medical and genetic specialists were identified, which require in-depth study in subsequent larger studies.

About the Authors

E. E. Baranova
Russian Medical Academy of Continuous Professional Education
Russian Federation


G. Yu. Zobkova
Vorohobov’s City Clinical Hospital № 67
Russian Federation


V. L. Izhevskaya
Research Centre for Medical Genetics
Russian Federation


References

1. Green R.C., Berg J.S., Grody W.W. et al. American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013; 15: 565-574.

2. ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med. 2015; 17: 68-69.

3. Kalia S.S., Adelman K., Bale S.J. et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017; 19: 249-255.

4. The recommendations of the European Society of Human Genetics on Whole Genome Sequencing in the European Journal of Human Genetics 2013; 21: 580-584. doi:10.1038/ejhg.2013.46

5. Abul-Husn N.S., Manickam K., Jones L.K., Wright E.A., Hartzel D.N., Gonzaga-Jauregui C., et al. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016 Dec 23;354(6319):aaf7000. doi: 10.1126/science.aaf7000

6. Perkins B.A., Caskey C.T, Brar P., et al. Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults. Proc Natl Acad Sci U S A. 2018;115(14):3686-3691. doi:10.1073/pnas.1706096114

7. Committee on Bioethics, Committee on Genetics, and the American College on Medical Genetics and Genomics Social, Ethical, and Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Pediatrics. 2013;131(3):620-622

8. Bredenoord A.L., de Vries M.C., van Delden H. The right to an open future concerning genetic information. Am J Bioeth. 2014;14(3):21-23.

9. Frankel L.A., Pereira S., McGuire A.L. Potential psychosocial risks of sequencing newborns. Pediatrics. 2016;137(suppl 1):S24-S29.

10. ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med. 2012; 14: 759-761

11. Best S., Wou K., Vora N., et al. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2017 Jan;38(1):10-19

12. Hillman S.C., Willams D., Carss K.J, et al. Prenatal exome sequencing for fetuses with structural abnormalities: the next step. Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2015;45(1):4-9.

13. Ижевская В.Л., Иванов В.И. Медико-генетическое консультирование в России: предпочтение директивного подхода. Медицинская генетика. 2004;.3(11): 521-528

14. Ижевская В.Л. Динамика этических установок российских медицинских генетиков Человек. 2006; 4: 78-83

15. Wertz D.C. Ethical views of European and Non-European Geneticists: Results of an International Survey. Report to European Society of Human Genetics, Berlin, May 24, 1995.

16. Cousens N. E., Gaff C. L., Metcalfe S. A., Delatycki M. B. (2010). Carrier screening for beta-thalassemia: a review of international practice. European journal of human genetics: EJHG, 18(10), 1077-1083. doi:10.1038/ejhg.2010.90

17. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011;117(4):1028-1031. doi:10.1097/AOG.0b013e31821922c2

18. Castellani C., Macek M. Jr, Cassiman J.J. et al. Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros. 2010;9(3):165-178. doi:10.1016/j.jcf.2010.02.005

19. Мифология века НТР: утопии, мифы, надежды и реальность новейших направлений науки. От Франкенштейна и эликсира бессмертия до «биокиборгов» и «постчеловека». Отв.ред. Г.Л.Белкина. Ред.-сост. М.И. Фролова.-М.:ЛЕНАНД, 2020.-448 с.

20. Borry P., Goffin T., Nys H., Dierickx K.: Attitudes regarding carrier testing in incompetent children. A survey of European clinical geneticists. Eur J Hum Genet. 2007; 15: 1211 - 1217

21. Ross L., Saal H., David K. et al. Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med. 2013; 15: 234-245 doi:10.1038/gim.2012.176

22. Borry P., Evers-Kiebooms G., Cornel M.C., Clarke A., Dierickx K., et al. Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur J Hum Genet. 2009; 17 (6):711-719. doi: 10.1038/ejhg.2009.25.

23. Cao A., Rosatelli M.C., Monni G., Galanello R. Screening for thalassemia: a model of success. Obstet Gynecol Clin North Am 2002; 29: 305-vii.

24. ACOG Committee on Obstetrics ACOG Practice Bulletin No. 78: Hemoglobinopathies in pregnancy. Obstet. Gynecol. 2007;109:229-237. doi: 10.1097/00006250-200701000-00055.

25. Henneman L., Borry P., Chokoshvili D., et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet 2016;24:e1-e12.

26. Genetic Testing Protocol for Huntington’s Disease. Huntington’s Disease Society of America. 2016 http://hdsa.org/wp-content/uploads/2015/02/HDSA-Gen-Testing-Protocol-for-HD.pdf

27. Anderson К.E, Elberly S., Marder K S. The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study. Clinical Genetics. 2019; 96: 28-34

28. Borry P., Stultiens L., Nys H., Cassiman J.J., Dierickx K. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 2006; 70:374 - 381.

29. Borry P., Schotsmans P., Fryns J.P., Dierickx K. Carrier testing in minors: a systematic review of guidelines and positions statements. Eur J Hum Genet 2006; 14: 133 - 138

30. Danish Council of Ethics: Genetic Investigation of Healthy Subjects. Report on Presymptomatic Gene Diagnosis. http://www.etiskraad.dk/sw293.asp, 2001


Review

For citations:


Baranova E.E., Zobkova G.Yu., Izhevskaya V.L. The assessment of ethical aspects of the genetic counseling efficacy in Russian Federation. Medical Genetics. 2020;19(11):39-46. (In Russ.) https://doi.org/10.25557/2073-7998.2020.11.39-46

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