Preview

Сибирский журнал клинической и экспериментальной медицины

Расширенный поиск

Этические проблемы генетического тестирования при наследственных заболеваниях сердечно-сосудистой системы

https://doi.org/10.29001/2073-8552-2021-36-4-29-36

Полный текст:

Аннотация

 В обзоре представлены отечественные и зарубежные данные, отражающие особенности медико-генетического  консультирования и прогностического тестирования  пациентов с наследственными заболеваниями сердечно-сосудистой системы. Освещены этические проблемы геномного тестирования, особенно вторичных (случайных)  находок, каскадного скрининга, обследования детей и  подростков, посмертного генетического тестирования.  Особое внимание уделено психосоциальному воздействию  генетического тестирования. 

Об авторах

Ф. М. Бостанова
Медико-генетический научный центр имени академика Н.П. Бочкова
Россия

 клинический ординатор

 115522, Российская Федерация, Москва, ул. Москворечье, 1 



В. Л. Ижевская
Медико-генетический научный центр имени академика Н.П. Бочкова
Россия

 д-р мед. наук, заместитель директора по научной работе, председатель Российского общества медицинских генетиков

 115522, Российская Федерация, Москва, ул. Москворечье, 1 



Список литературы

1. Girolamia F., Frisso G., Benellic M., Crottid L., Iasconee M., Mango R. et al. Contemporary genetic testing in inherited cardiac disease: Tools, ethical issues, and clinical applications. J. Cardiovasc. Med. (Hagerstown). 2018;19(1):1–11. DOI: 10.2459/JCM.0000000000000589.

2. Румянцева В.А., Заклязьминская Е.В. Регулярное медико-генетическое консультирование и ДНК-диагностика наследственных заболеваний сердечно-сосудистой системы в практике федерального многопрофильного хирургического центра (анализ опыта 10-летней работы лаборатории медицинской генетики РНЦХ им. акад. Б.В. Петровского). Медицинская генетика. 2020;19(5):28–30. DOI: 10.25557/2073-7998.2020.05.28-30.

3. Cowan J., Morales A., Dagua J., Hershberger R.E. Genetic testing and genetic counseling in cardiovascular genetic medicine: Overview and preliminary recommendations. CHF. 2008;14(2):97–105. DOI: 10.1111/j.1751-7133.2008.08217.x.

4. Ackerman M.J., Priori S.G., Willems S., Berul C., Brugada R., Calkins H. et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011;8(8):1308–1339. DOI: 10.1016/j.hrthm.2011.05.020.

5. Resta R., Biesecker B.B., Bennett R.L., Blum S., Hahn S.E., Strecker M.N. et al. A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force report. J. Genet. Couns. 2006;15(2):77–83. DOI:10.1007/s10897-005-9014-3.

6. Ingles J., Yeates L., Semsarian C. The emerging role of the cardiac genetic counselor. Heart Rhythm. 2011;8(12):1958–1962. DOI: 10.1016/j.hrthm.2011.07.017.

7. Pinxten W., Howard H.C. Ethical issues raised by whole genome sequencing. Best Pract. Res. Clin. Gastroenterol. 2014;28(2):269–279. DOI: 10.1016/j.bpg.2014.02.004.

8. Рыжкова О.П., Кардымон О.Л., Прохорчук Е.Б., Коновалов Ф.А., Масленников А.Б., Степанов В.А. и др. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2). Медицинская генетика. 2019;18(2):3–23. DOI: 10.25557/2073-7998.2019.02.3-23.

9. Van Driest S.L., Wells Q.S., Stallings S., Bush W.S., Gordon A., Nickerson D.A. et al. Association of arrhythmia-related genetic variants with phenotypes documented in electronic medical records. JAMA. 2016;315(1):47–57. DOI: 10.1001/jama.2015.17701.

10. Cassa C.A., Tong M.Y., Jordan D.M. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum. Mutat. 2013;34(9):1216–1220. DOI: 10.1002/humu.22375.

11. Christensen K.D., Dukhovny D., Siebert U., Green R.C. Assessing the costs and cost-effectiveness of genomic sequencing. J. Pers. Med. 2015;5(4):470–486. DOI: 10.3390/jpm5040470.

12. Butterfield R.M., Evans J.P., Rini C., Kuczynski K.J., Waltz M., Cadigan R.J. et al. Returning negative results to individuals in a genomic screening program: Lessons learned. Genet. Med. 2019;21(2):409–416. DOI: 10.1038/s41436-018-0061-1.

13. Clarke A.J., Wallgren-Pettersson C. Ethics in genetic counselling. J. Community Genet. 2019;10(1)3–33. DOI: 10.1007/s12687-018-0371-7.

14. Andorno R. The right not to know: An autonomy based approach. J. Med. Ethics. 2004;30(5):435–439. DOI: 10.1136/jme.2002.001578.

15. Norrgard K. Ethics of genetic testing: Medical insurance and genetic discrimination. Nature Education. 2008;1(1):90.

16. Mills R.A., Haga S.B., Ginsburg G.S. Genetic testing: Clinical and personal utility. Virtual Mentors. 2012;14(8):604–609. DOI: 10.1001/virtualmentor.2012.14.8.ecas1-1208.

17. Grosse S.D., Kalman L., Khoury M.J. Evaluation of the validity and utility of genetic testing for rare diseases. Adv. Exp. Med. Biol. 2010;686:115–131. DOI: 10.1007/978-90-481-9485-8_8.

18. Fabsitz R.R., McGuire A., Sharp R.R., Puggal M., Beskow L.M., Biesecker L.G. et al. Ethical and practical guidelines for reporting genetic research results to study participants: Updated guidelines from a national heart, lung, and blood institute working group. Circ. Cardiovasc. Genet. 2010;3(6):574–580. DOI: 10.1161/circgenetics.110.958827.

19. Ingles J., Semsarian C. The value of cardiac genetic testing. Trends Cardiovasc. Mеd. 2014;24(6): 217–224. DOI: 10.1016/j.tcm.2014.05.009.

20. Musunuru K., Hershberger R.E., Day S.M., Klinedinst N.J., Landstrom A.P., Parikh V.N. Genetic testing for inherited cardiovascular diseases: A scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 2020;13(4):e000067.

21. Ingles J., Macciocca I., Morales A., Thomson K. Genetic testing in inherited heart diseases. Heart Lung Circ. 2020;29(4):505–511. DOI: 10.1016/j.hlc.2019.10.014.

22. Louter L., Defesche J., Roeters van Lennep J. Cascade screening for familial hypercholesterolemia: Practical consequences. Atheroscler. Suppl. 2017;30:77–85. DOI: 10.1016/j.atherosclerosissup.2017.05.019.

23. Watts G.F., Sullivan D.R., Hare D.L., Kostner K.M., Horton A.E., Bell D.A. et al. Integrated guidance for enhancing the care of familial hypercholesterolaemia in Australia. Heart Lung Circ. 2021;30(3):324–349. DOI: 10.1016/j.hlc.2020.09.943.

24. Bell D.A., Pang J., Burrows S., Bates T.R., van Bockxmeer F.M., Hooper A.J. et al. Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally coordinated clinical service: An Australian experience. Atherosclerosis. 2015;239(1):93–100. DOI: 10.1016/j.atherosclerosis.2014.12.036.

25. Van Velzen H.G., Schinkel A.F.L., Baart S.J., Oldenburg R.A., FrohnMulder I.M.E., van Slegtenhorst M.A. et al. Outcomes of contemporary family screening in hypertrophic cardiomyopathy. Circ. Genom. Precis. Med. 2018;11(4):e001896. DOI: 10.1161/circgen.117.001896.

26. Van den Heuvel L.M., van Teijlingen M.O., van der Roest W., van Langen I.M., Smets E.M.A., van Tintelen J.P. et al. A long-term follow-up study on the uptake of genetic counseling and predictive DNA testing in inherited cardiac conditions. Circ. Genom. Precis. Med. 2020;13(5):524–530. DOI: 10.1161/circgen.119.002803.

27. Menko F.H., Aalfs C.M., Henneman L., Stol Y., Wijdenes M., Otten E. et al. Dutch Society for Clinical Genetics. Informing family members of individuals with Lynch syndrome: A guideline for clinical geneticists. Fam. Cancer. 2013;12(2):319–324. DOI: 10.1007/s10689-013-9636-9.

28. Leenen C.H., Heijer M.D., van der Meer C., Kuipers E.J., van Leerdam M.E., Wagner A. Genetic testing for Lynch syndrome: family communication and motivation. Fam. Cancer. 2016;15(1):63–73. DOI: 10.1007/s10689-015-9842-8.

29. Ormondroyd E., Oates S., Parker M., Blair E., Watkins H. Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications. Eur. J. Hum. Genet. 2014;22(1):88–93. DOI: 10.1038/ejhg.2013.81.

30. Schuurman A.G., van der Kolk D.M., Verkerk M.A., Birnie E., Ranchor A.V., Plantinga M. et al. Maximising the efficiency of clinical screening programmes: Balancing predictive genetic testing with a right not to know. Eur. J. Hum. Genet. 2015;23(9):1124–1128. DOI: 10.1038/ejhg.2014.269.

31. Offit K., Groeger E., Turner J.D., Wadsworth E.A., Weiser M.A. The “Duty to Warn” a patient’s family about hereditary disease risks. JAMA. 2004;292(12):1469–1473. DOI: 10.1001/jama.292.12.1469.

32. Brett T., Qureshi N., Gidding S., Watts G.F. Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part. Atherosclerosis. 2018;277:399–406. DOI: 10.1016/j.atherosclerosis.2018.08.019.

33. Green R.C., Berg J.S., Grody W.W., Kalia S.S., Korf B.R., Martin C.L. et al. ACMG recommendations for reporting of incidental fi ndings in clinical exome and genome sequencing. Genet. Med. 2013;15(7):565–574. DOI: 10.1038/gim.2013.73.

34. Kalia S.S., Adelman K., Bale S.J, Chung W.K., Eng C., Evans J.P. et al. Recommendations for reporting of secondary fi ndings 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(2):249–255. DOI: 10.1038/gim.2016.190.

35. De Wert G., Dondorp W., Clarke A., Dequeker E.M.C., Cordier C., Deans Z. et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 2021;29(3):365–377. DOI: 10.1038/s41431-020-00758-w.

36. Botkin J.R., Belmont J.W., Berg J.S., Berkman B.E., Bombard Y., Holm I.A. et al. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet. 2015;97(1):6–21. DOI: 10.1016/j.ajhg.2015.05.022.

37. Van Noy G.E., Genetti C.A., McGuire A.L., Green R.C., Beggs A.H., Holm I.A. et al. Challenging the current recommendations for carrier testing in children. Pediatrics. 2019;143(1):S27–S32. DOI: 10.1542/peds.2018-1099F.

38. Boone P.M. Adolescents, family history, and inherited disease risk: An opportunity. Pediatrics. 2016;138(2):e20160579. DOI: 10.1542/peds.2016-0579.

39. Ross L.F., Clayton E.W. Ethical issues in newborn sequencing research: The Case study of BabySeq. Pediatrics. 2019;144(6):e20191031. DOI: 10.1542/peds.2019-1031.

40. Gollob M.H., Blier L., Brugada R., Champagne J., Chauhan V., Connors S. et al. Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper. Can. J. Cardiol. 2011;27(2): 232–245. DOI: 10.1016/j.cjca.2010.12.078.

41. Mullen М.А., Gow R.M. Emerging ethical issues in genetic testing for sudden cardiac death. Cardiac Rhythm News. 2016. URL: https://cardiacrhythmnews.com/ 43.

42. Longmuir P., Sampson M., Ham J., Weekes M., Patel B., Gow R. The mental health of adolescents and pre-adolescents living with inherited arrhythmia syndromes: A systematic review of the literature. Cardiol. Young. 2018;28(5):621–631. DOI: 10.1017/S104795111700289X.

43. Czosek R.J., Kaltman J.R., Cassedy A.E., Shah M.J., Vetter V.L., Tanel R.E. et al. Quality of life of pediatric patients with long QT syndrome. Am. J. Cardiol. 2016;117(4):605–610. DOI: 10.1016/j.amjcard.2015.11.051.

44. Grubic N., Puskas J., Phelan D., Fournier A., Martin L.J., Johri A.M. Shock to the heart: Psychosocial implications and applications of sudden cardiac death in the young. Curr. Cardiol. Rep. 2020;22(12):168. DOI: 10.1007/s11886-020-01419-6.

45. Senior V., Marteau T.M., Peters T.J. Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia. Soc. Sci. Med. 1999;48(12):1857–1860. DOI: 10.1016/s0277-9536(99)00099-4.

46. Hall A.E., Burton H. Legal and ethical implications of inherited cardiac disease in clinical practice within the UK. J. Med. Ethics. 2010;36(12):762–766. DOI: 10.1136/jme.2009.034108.

47. Semsarian C., Ingles J., Wilde A.A. Sudden cardiac death in the young: The molecular autopsy and a practical approach to surviving relatives. Eur. Heart J. 2015;36(21):1290–1296. DOI: 10.1093/eurheartj/ehv063.

48. Ahmad F., McNally E.M., Ackerman M.J., Baty L.C., Day S.M., Kullo I.J. et al. Establishment of specialized clinical cardiovascular genetics programs: Recognizing the need and meeting standards: A scientifi c statement from the American Heart Association. Circ. Genom. Precis. Med. 2019;12(6):e000054. DOI: 10.1161/hcg.0000000000000054.

49. McNally E., Cambon-Thomsen A., Brazell A., Cassiman J.J., Kent A., Lindpaintner K. et al. 25 recommendations on the ethical, legal and social implications of genetic testing. Brussels: RTD info; 2004:25–26.

50. URL: https://docs.cntd.ru/document/607142391?marker

51. Lerman C., Peshkin B.N., Hughes C., Isaacs C. Family disclosure in genetic testing for cancer susceptibility: Determinants and consequences. Health Care L. Poly. 1998;1(2):353–372.

52. Parker M., Lucassen A.М. Genetic information: А joint account? BMJ. 2004;329(7458):165–167. DOI: 10.1136/bmj.329.7458.165.

53. Gaff C.L., Clarke A.J., Atkinson P., Sivell S., Elwyn G., Iredale R. et al Process and outcome in communication of genetic information within families: A systematic review. Eur. J. Hum. Genet. 2010;15(10):999–1011. DOI: 10.1038/sj.ejhg.5201883.

54. Sándor J. Genetic testing between private and public interests: Some legal and ethical refl ections. Front. Public Health. 2018;31(1):6–8. DOI: 3389/fpubh.2018.00008.


Рецензия

Для цитирования:


Бостанова Ф.М., Ижевская В.Л. Этические проблемы генетического тестирования при наследственных заболеваниях сердечно-сосудистой системы. Сибирский журнал клинической и экспериментальной медицины. 2021;36(4):29-36. https://doi.org/10.29001/2073-8552-2021-36-4-29-36

For citation:


Bostanova F.M., Izhevskaya V.L. Ethical problems of genetic testing for hereditary cardiovascular diseases. The Siberian Journal of Clinical and Experimental Medicine. 2021;36(4):29-36. (In Russ.) https://doi.org/10.29001/2073-8552-2021-36-4-29-36

Просмотров: 57


Creative Commons License
Контент доступен под лицензией Creative Commons Attribution 4.0 License.


ISSN 2713-2927 (Print)
ISSN 2713-265X (Online)