medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.04.16-24medgen-2050Research ArticleНАУЧНЫЙ ОБЗОРREVIEWИнформированное согласие при генетическом тестировании и скринингеInformed consent for genetic testing and screeningИжевскаяВ. Л.IzhevskayaV. L.izhevskaya@med-gen.ruБарановаЕ. Е.BaranovaE. E.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian FederationФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Министерства здравоохранения Российской ФедерацииРоссияRussian Medical Academy of Continuous Professional Education of the Ministry of Health of the Russian FederationRussian Federation2022050720222141624Copyright © Ижевская В.Л., Баранова Е.Е., 20222022Ижевская В.Л., Баранова Е.Е.Izhevskaya V.L., Baranova E.E.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2050

Информация, полученная при генетическом тестировании, рассматривается как часть информации о здоровье, но она имеет особый статус, обусловленный ее прогностическим характером, возможностями обнаружения вариантов последовательности ДНК, имеющих отношение к здоровью человека в будущем, но не связанных с первоначальной целью тестирования, потенциальными изменениями интерпретации результатов теста по мере накопления научных знаний, а также с семейным характером. Из-за сложности интерпретации генетической информации и возможных медицинских, психологических и социальных последствий, связанных с генетическим тестированием, требуется получение информированного согласия пациентов или их законных представителей, а также медико-генетическое консультирование до и после тестирования. В обзоре обсуждаются особенности генетической информации и соответствующие особенности информированного согласия при генетическом и геномном тестировании, хранении генетической информации и биообразцов, скрининге новорожденных.

Information obtained from genetic testing is considered as a part of health information, but it has a special status due to its predictive nature, the ability to detect DNA sequence variants that are relevant to human health in the future, but not related to the original purpose of testing, potential changes in interpretation test results as scientific knowledge accumulates, as well as with a family character. Due to the complexity of interpreting genetic information and the potential medical, psychological, and social implications associated with genetic testing, informed consent is required from patients or their legal representatives, as well as genetic counseling before and after testing. The review discusses the features of genetic information and the corresponding features of informed consent in genetic and genomic testing, storage of genetic information and biosamples, and newborn screening.

генетическое тестированиеэтические проблемынесовершеннолетниедобровольное информированное согласиеgenetic testingethical issueschance findsminorsvoluntary informed consentReferencesEuropean Commission, Directorate-General for Research and Innovation, 25 recommendations on the ethical, legal and social implications of genetic testing, Publications Office, 2005,European Commission, Directorate-General for Research and Innovation, 25 recommendations on the ethical, legal and social implications of genetic testing, Publications Office, 2005,European Commission. The Independent expert group. Ethical, legal and social aspects of genetic testing: research, development and clinical application. Luxemburg: Office for Official Publications of European Communities, 2004. 100 p.European Commission. The Independent expert group. Ethical, legal and social aspects of genetic testing: research, development and clinical application. Luxemburg: Office for Official Publications of European Communities, 2004. 100 p.Miller D.T., Lee K., Chung W.K., Gordon A.S., Herman G.E., Klein T.E., et al. ACMG Secondary Findings Working Group. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021; 23(8): 1381-1390.Miller D.T., Lee K., Chung W.K., Gordon A.S., Herman G.E., Klein T.E., et al. ACMG Secondary Findings Working Group. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021; 23(8): 1381-1390.de Wert G., Dondorp W., Clarke A. et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2021; 29(3): 365-377.de Wert G., Dondorp W., Clarke A. et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2021; 29(3): 365-377.Баранова Е.Е., Зобкова Г.Ю., Воронцова М.В., и др. Этические проблемы геномного скрининга: обзор литературы. Медицинская генетика 2021; 20(5): 3-14. doi:10.25557/2073-7998.2021.05.3-14.Баранова Е.Е., Зобкова Г.Ю., Воронцова М.В., и др. Этические проблемы геномного скрининга: обзор литературы. Медицинская генетика 2021; 20(5): 3-14. doi:10.25557/2073-7998.2021.05.3-14.Andorno R. The right not to know: an autonomy based approach. J Med Ethics. 2004; 30(5): 435-439.Andorno R. The right not to know: an autonomy based approach. J Med Ethics. 2004; 30(5): 435-439.Royal College of Physicians, Royal College of Pathologists and British Society for Genetic Medicine. Consent and confidentiality in genomic medicine: Guidance on the use of genetic and genomic information in the clinic. 3rd edition. Report of the Joint Committee on Genomics in Medicine. London: RCP, RCPath and BSGM, 2019.Royal College of Physicians, Royal College of Pathologists and British Society for Genetic Medicine. Consent and confidentiality in genomic medicine: Guidance on the use of genetic and genomic information in the clinic. 3rd edition. Report of the Joint Committee on Genomics in Medicine. London: RCP, RCPath and BSGM, 2019.Mikkelsen R.B., Gjerris M., Waldemar G., Sandøe P. Broad consent for biobanks is best - provided it is also deep. BMC Med Ethics 2019 Oct 15;20(1):71. doi: 10.1186/s12910-019-0414-6.Mikkelsen R.B., Gjerris M., Waldemar G., Sandøe P. Broad consent for biobanks is best - provided it is also deep. BMC Med Ethics 2019 Oct 15;20(1):71. doi: 10.1186/s12910-019-0414-6.UNESCO International Bioethics Committee.International Declarationon Human Genetic Data, Paris, 2003. 12 p.UNESCO International Bioethics Committee.International Declarationon Human Genetic Data, Paris, 2003. 12 p.Dheensa S., Fenwick A., Lucassen A. ‘Is this knowledge mine and nobody else’s? I don’t feel that.’ Patient views about consent, confidentiality and information-sharing in genetic medicine. J Med Ethics. 2016;42:174-179.Dheensa S., Fenwick A., Lucassen A. ‘Is this knowledge mine and nobody else’s? I don’t feel that.’ Patient views about consent, confidentiality and information-sharing in genetic medicine. J Med Ethics. 2016;42:174-179.Bernhardt B.A., Biesecker B.B., Mastromarino C.L. Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. Am J Med Genet. 2000;94(3):189-97Bernhardt B.A., Biesecker B.B., Mastromarino C.L. Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. Am J Med Genet. 2000;94(3):189-97George R., Kovak K., Cox S.L. Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases. J Genet Couns. 2015; 24(3): 388-399.George R., Kovak K., Cox S.L. Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases. J Genet Couns. 2015; 24(3): 388-399.Mills R.A., et.al. Genetic Testing: Clinical and Personal Utility. American Medical Association Journal of Ethics. 2012;14(8): 604-609.Mills R.A., et.al. Genetic Testing: Clinical and Personal Utility. American Medical Association Journal of Ethics. 2012;14(8): 604-609.Botkin J.R. Ethical issues in pediatric genetic testing and screening. Curr Opin Pediatr. 2016;28(6):700-704. doi: 10.1097/MOP.0000000000000418.Botkin J.R. Ethical issues in pediatric genetic testing and screening. Curr Opin Pediatr. 2016;28(6):700-704. doi: 10.1097/MOP.0000000000000418.Dondorp W., Bolt I., Tibben A., De Wert G., Van Summeren M. ‘We Should View Him as an Individual’: The Role of the Child’s Future Autonomy in Shared Decision-Making About Unsolicited Findings in Pediatric Exome Sequencing. Health Care Anal. 2021;29(3):249-261. doi: 10.1007/s10728-020-00425-7.Dondorp W., Bolt I., Tibben A., De Wert G., Van Summeren M. ‘We Should View Him as an Individual’: The Role of the Child’s Future Autonomy in Shared Decision-Making About Unsolicited Findings in Pediatric Exome Sequencing. Health Care Anal. 2021;29(3):249-261. doi: 10.1007/s10728-020-00425-7.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. Cardiology in the Young. 2018;28(5): 621-631.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. Cardiology in the Young. 2018;28(5): 621-631.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.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.Kaphingst K.A., McBride C.M. Patient responses to genetic information: studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice. Semin Nephrol. 2010;30(2):203-14.Kaphingst K.A., McBride C.M. Patient responses to genetic information: studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice. Semin Nephrol. 2010;30(2):203-14.Grady C. Enduring and emerging challenges of informed consent. N Engl J Med. 2015;372(22):2172.Grady C. Enduring and emerging challenges of informed consent. N Engl J Med. 2015;372(22):2172.Brody B.A. Making informed consent meaningful. IRB. 2001;23(5):1-5.Brody B.A. Making informed consent meaningful. IRB. 2001;23(5):1-5.Bunnik E.M., Janssens A.C., Schermer M.H. A tiered-layered-staged model for informed consent in personal genome testing. Eur J Hum Genet. 2013;21(6):596-601.Bunnik E.M., Janssens A.C., Schermer M.H. A tiered-layered-staged model for informed consent in personal genome testing. Eur J Hum Genet. 2013;21(6):596-601.Bradbury A.R., Patrick-Miller L.J., Egleston B., DiGiovanni L., Brower J., Harris D. et al. Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing. Genet. Med. 2016; 18: 25-33.Bradbury A.R., Patrick-Miller L.J., Egleston B., DiGiovanni L., Brower J., Harris D. et al. Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing. Genet. Med. 2016; 18: 25-33.Samuel G.N., Dheensa S., Farsides B., Fenwick A., Lucassen A. Healthcare professionals’ and patients’ perspectives on consent to clinical genetic testing: moving towards a more relational approach. BMC Med Ethics. 2017;18(1):47. doi: 10.1186/s12910-017-0207-8.Samuel G.N., Dheensa S., Farsides B., Fenwick A., Lucassen A. Healthcare professionals’ and patients’ perspectives on consent to clinical genetic testing: moving towards a more relational approach. BMC Med Ethics. 2017;18(1):47. doi: 10.1186/s12910-017-0207-8.Ormond K.E., Borensztein M.J., Hallquist M.L.G., Buchanan A.H., Faucett W.A, Peay H.L., et al. Defining the Critical Components of Informed Consent for Genetic Testing. J Pers Med. 2021;11(12):1304. doi: 10.3390/jpm11121304.Ormond K.E., Borensztein M.J., Hallquist M.L.G., Buchanan A.H., Faucett W.A, Peay H.L., et al. Defining the Critical Components of Informed Consent for Genetic Testing. J Pers Med. 2021;11(12):1304. doi: 10.3390/jpm11121304.Ormond K.E., Hallquist M.L.G., Buchanan A.H., Dondanville D., Cho M.K., Smith M., et al. Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background. Genet. Med. 2018, 21, 727-735.Ormond K.E., Hallquist M.L.G., Buchanan A.H., Dondanville D., Cho M.K., Smith M., et al. Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background. Genet. Med. 2018, 21, 727-735.Council for Responsible Genetics. Newborn screening in America: Problems and policies. 2012; 8.Council for Responsible Genetics. Newborn screening in America: Problems and policies. 2012; 8.Hasegawa L.E., Fergus K.A., Ojeda N., Au S.M. Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies. Public Health Genomics. 2011;14:298-306.Hasegawa L.E., Fergus K.A., Ojeda N., Au S.M. Parental attitudes toward ethical and social issues surrounding the expansion of newborn screening using new technologies. Public Health Genomics. 2011;14:298-306.Am. Coll. Obstet. Gynecol.Comm. Genet.Committee opinion no. 481: newborn screening. Obstet Gynecol. 2011; 117:762-65.Am. Coll. Obstet. Gynecol.Comm. Genet.Committee opinion no. 481: newborn screening. Obstet Gynecol. 2011; 117:762-65.Tolusso L.K., Collins K., Zhang X., Holle J.R., Valencia C.A., Myers M.F. Pediatric whole exome sequencing: an assessment of parents’ perceived and actual understanding. J Genet Couns. 2017;26(4):792-8Tolusso L.K., Collins K., Zhang X., Holle J.R., Valencia C.A., Myers M.F. Pediatric whole exome sequencing: an assessment of parents’ perceived and actual understanding. J Genet Couns. 2017;26(4):792-8Alexander D., van Dyck P.C. A vision of the future of newborn screening. Pediatrics. 2006;117:S350-54.Alexander D., van Dyck P.C. A vision of the future of newborn screening. Pediatrics. 2006;117:S350-54.Ross L.F. Mandatory versus voluntary consent for newborn screening? Kennedy Inst Ethics J. 2010;20:299-328.Ross L.F. Mandatory versus voluntary consent for newborn screening? Kennedy Inst Ethics J. 2010;20:299-328.Tarini B.A., Goldenberg A.J. Ethical issues with newborn screening in the genomics era. Annu Rev Genomics Hum Genet. 2012;13:381-93. doi: 10.1146/annurev-genom-090711-163741.Tarini B.A., Goldenberg A.J. Ethical issues with newborn screening in the genomics era. Annu Rev Genomics Hum Genet. 2012;13:381-93. doi: 10.1146/annurev-genom-090711-163741.Lewis M.H., Botkin, J.R. Newborn Screening in the United States: Ethical Issues. The Oxford Handbook of Public Health Ethics. Edited by A.C. Mastroianni, J.P. Kahn, N. Kass. 2019. DOI: 10.1093/oxfordhb/9780190245191.013.59Lewis M.H., Botkin, J.R. Newborn Screening in the United States: Ethical Issues. The Oxford Handbook of Public Health Ethics. Edited by A.C. Mastroianni, J.P. Kahn, N. Kass. 2019. DOI: 10.1093/oxfordhb/9780190245191.013.59Gene Watch. Keeping Blood Spots from Newborn Babies, UK. Gene Watch UK. 2006.Gene Watch. Keeping Blood Spots from Newborn Babies, UK. Gene Watch UK. 2006.Esquerda M., Palau F., Lorenzo D., et al. Ethical questions concerning newborn genetic screening. Clinical Genetics. 2021;99:93-98. https://doi.org/10.1111/cge.1382Esquerda M., Palau F., Lorenzo D., et al. Ethical questions concerning newborn genetic screening. Clinical Genetics. 2021;99:93-98. https://doi.org/10.1111/cge.1382

The authors declare that there are no conflicts of interest present.