The principles of predictive genetic testing and screening in the concept of personalized medicine


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The review discusses the principles of predictive genetic testing and screening in the concept of personalized medicine. The criteria for screening developed by WHO in 1968, as well as modern supplemented and refined criteria for genetic testing for multifactorial diseases are presented. The methodology of the evaluation of genetic tests on analytical and clinical reliability, clinical significance, and ethical, legal, and social consequences is considered. The approaches of international organizations involved in the assessment of health technologies, including genetic tests, are demonstrated. The currently predictive genetic testing of multifactorial diseases is noted to be promising for diseases whose pathogenesis is associated with single genes that obey the Mendelian laws of inheritance. In this case, predictive genetic testing is of interest in terms of prevention of the disease, individual treatment, and disease prognosis. When considering the introduction of predictive genetic testing in the public health system, along with clinical and cost-effectiveness, public health risks should be taken into account. The benefits of genetic testing as a personalized health care service should prevail over the risks associated with it. The development of the methodology for assessing and predicting the risks associated with predictive genetic testing, as well as improving the methods of managing risks, will achieve the main goal - to improve the efficiency of the health system.

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作者简介

N. Belushkina

Lomonosov Moscow State University

Email: belushkina@rambler.ru
leading researcher Center of Immunology and Molecular Biomedicine, Faculty of Biology, Lomonosov Moscow State University, Professor, doctor of biological Sciences Leninskie Gory, 1-12, Moscow, 119991, Russian Federation

M. Paltsev

Lomonosov Moscow State University

Email: cimbm@mail.bio.msu.ru
Director Center of Immunology and Molecular Biomedicine, Faculty of Biology, Lomonosov Moscow State University, Academician of the Russian Academy of Sciences, Doctor of Medical Sciences Leninskie Gory, 1-12, Moscow, 119991, Russian Federation

参考

  1. Белушкина Н.Н., Чемезов А.С., Пальцев М.А. Персонализированная медицина: от идеи до внедрения в практическое здравоохранение. Молекулярная медицина. 2018; 16 (3): 9-15 https://doi. org/10.29296/24999490-2018-03-02
  2. Пальцев М.А., Белушкина Н.Н., Чабан Е.А. 4П-медицина как новая модель здравоохранения в Российской Федерации. Оргздрав: новости, мнения, обучение. 2015; 2: 52-8
  3. Зворыкина Е.И., Зворыкина Ю.В. Инновации в персонализированной медицине. Менеджмент и бизнесадминистрирование. 2019; 1: 129-39
  4. Новикова Е.И., Снигирева Г.П. Секвенирование «нового поколения» (NGS): применение для молекулярно-генетических исследований в онкологии. Вестник Российского научного центра рентгенорадиологии Минздрава России. 2016; 16 (1): 6-8
  5. Gonzalez-Garay M.L. The road from next-generation sequencing to personalized medicine. Personalized medicine. 2014;(5): 523-44. https://doi.org/10.2217/ PME.14.34
  6. Molster C.M., Bowman F.L., Bilkey G.A., Cho A.S., Burns B.L., Nowak K.J., Dawkins H.J.S. The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future. Front Public Health. 2018; 4 (6): 247. https://doi. org/10.3389/fpubh.2018.00247
  7. Gallagher M.D., Chen-Plotkin A.S. The Post-GWAS Era: From Association to Function. American journal of human genetics. 2018; 102 (5): 717-30. https://doi.org/10.10Wj. ajhg.2018.04.002
  8. Костюк С.А. Предиктивная медицина и методы генетического тестирования. Медицинские новости. 2016; 4: 11-4.
  9. Green R.F., Ari M., Kolor K., Dotson W.D., Bowen S., Habarta N., Rodriguez J.L., Richardson L.C., Khoury M.J. Evaluating the role of public health in implementation of genomics-related recommendations: a case study of hereditary cancers using the CDC Science Impact Framework. Genet Med. 2019; 21 (1): 28-37. https://doi. org/10.1038/s41436-018-0028-2.
  10. Wilson J.M.G., Jungner G. Principles and Practice of Screening for Disease. Geneva: World Health Organization, 1968.
  11. Goel V Appraising organised screening programmes for testing for genetic susceptibility to cancer. BMJ. 2001; 322: 1174-8.
  12. Pitini E., De Vito C., Marzuillo C., Dandrea E., Rosso A., Federici A., Di Maria E., Villari P How is genetic testing evaluated? A systematic review of the literature. Eur. J. Hum. Genet. 2018; 26 (5): 605-15. https:// doi.org/10.1038/s41431-018-0095-5
  13. Ned R.M., Sijbrands E.J.G. Cascade Screening for Familial Hypercholesterolemia (FH). PLoS. Curr. 2011; 23 (3): RRN1238. https://doi.org/10.1371/currents. RRN1238
  14. Berg A.O., Armstrong K., Botkin J., Calonge N., Haddow J., Hayes M., Kaye C., Phillips K.A., Piper M., Richards C.S., Scott J.A., Strickland O.L., Teutsch S. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009; 11 (1): 35-41. https://doi.org/10.1097/ GIM.0b013e31818fa2ff.
  15. Bellcross C.A., Bedrosian S.R., Daniels E., Duquette D., Hampel H., Jasperson K. , Joseph D.A., Kaye C., Lubin I., Meyer L. J., Reyes M., Scheuner M.T., Schully S.D., Senter L., Stewart S.L., St Pierre J., Westman J., Wise P., Yang V.W., Khoury M. J. Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genet Med. 2012; 14 (1): 152-62. https://doi.org/10.1038/ gim.0b013e31823375ea.
  16. Stewart A. Genetic Testing Strategies in Newly Diagnosed Endometrial Cancer Patients Aimed at Reducing Morbidity or Mortality from Lynch Syndrome in the Index Case or Her Relatives. PLOS Currents Evidence on Genomic Tests. 2013; Edition I. https://doi.org/10.1371/currents.eogt. b59a6e84f27c536e50db4e46aa26309c.
  17. Khoury M.J., Bowen M.S., Burke W, Coates R.J., Dowling N.F., Evans J.P., Reyes M., St Pierre J. Current priorities for public health practice in addressing the role of human genomics in improving population health. Am. J. Prev Med. 2011; 40 (4): 486-93. https://doi.org/10.10Wj. amepre.2010.12.009.
  18. Marzuillo C., De Vito C., DAndrea E., Rosso A., Villari P. Predictive genetic testing for complex diseases: a public health perspective. QJM. 2014; 107 (2): 93-7. https:// doi.org/10.1093/qjmed/hct190. Epub 2013 Sep 17.
  19. Lwoff L. Council of Europe adopts protocol on genetic testing for health purposes. European J. of Human Genetics. 2009; 17: 1374-7. https://doi.org/10.1038/ ejhg.2009.84
  20. Lango H., Weedon M.N. What will whole genome searches for susceptibility genes for common complex disease offer to clinical practice? J. Intern. Med. 2008; 263: 16-27.
  21. Bamshad M.J., Ng S.B., Bigham A.W., Tabor H.K., Emond M.J., Nickerson D.A., Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics. 2011; 12 (11): 745-5. https://doi. org/10.1038/nrg3031
  22. Wallace H.M. A Model of genegene and gene-environment interactions and its implications for targeting environmental interventions by genotype. Theor. Biol. Med. Model. 2006; 3: 35. https://doi. org/10.1186/1742-4682-3-35
  23. Баранов B.C. Экологическая генетика и предиктивная медицина. Экологическая генетика. 2003; 1 (1): 22-9.
  24. Hiroto N. Gene-Environment Interactions in Preventive Medicine: Current Status and Expectations for the Future. Int. J. Mol. Sci. 2017; 18: 302. https://doi.org/10.3390/ ijms18020302
  25. Becker F., van El C.G., Ibarreta D., Zika E., Hogarth S., Borry P., A. Cambon-Thomsen, J. J. Cassiman, G. Evers-Kiebooms, Hodgson S., A.C.J.W. Janssens, Kaariainen H., Krawczak M., Kristoffersson U., Lubinski J., Patch C., Penchaszadeh V.B., Read A., Rogowski W., Sequeiros J., Tranebjaerg L., van Langen I.M., Wallace H., Zimmern R., Schmidtke J., Cornel M.C. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. European Journal of Human Genetics. 2011; 19: 6-44. https:// doi.org/10.1038/ejhg.2010.249
  26. Кукес В.Г, Маринин В.Ф., Олефир Ю.В., Раменская Г. В., Лазарева Н.Б., Смирнов B. В., Журавлева М.В., Прокофьев А.Б., Ших Е.В., Жестовская А.С., Румянцев Н.А., Мандыч Д.В., Горошко О.А. Персонализированная медицина в клинике внутренних болезней. Клиническая медицина. 2017; 95 (3): 197-200. https://doi.org/10.18821/0023-2149-2017-95-3-197-200.
  27. Prokop, J.W., May, T., Strong, K., Bilinovich, S.M., Bupp, C., Rajasekaran, S., Worthey, E.A., Lazar, J. Genome sequencing in the clinic: the past, present, and future of genomic medicine. Physiological genomics. 2018; 50 (8): 563-79. https://doi. org/10.1152/physiolgenomics.00046.2018
  28. Mahdavi M., Nassiri M., Kooshyar M.M., Vakili-Azghandi, M., Avan A., Sandry R., Pillai S., Lam A.K.Y., Gopalan V Hereditary breast cancer. Genetic penetrance and current status with BRCA. Journal of cellular physiology 2019; 234 (5): 5741-50. https:// doi.org/10.1002/jcp.27464
  29. Lesueur F., Mebirouk N., Jiao Y, Barjhoux L., Belotti M., Laurent M., Leone M., Houdayer C. , Bressac-de Paillerets B.,Vaur D., Sobol H. , Nogues C., Longy M., Mortemousque I. , Fert-Ferrer S., Mouret-Fourme E., Pujol P., Venat-Bouvet L., Bignon Y.J., Leroux D., Coupier I., Berthet P., Mari V, Delnatte C., Gesta P., Collonge-Rame M.A., Giraud S., Bonadona V, Baurand A., Faivre L., Buecher B., Lasset C., Gauthier-Villars M., Damiola F., Mazoyer S., Caputo S.M., Andrieu N., Stoppa-Lyonnet D. GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1and BRCA2 Pathogenic Variant Carriers. Frontiers in oncology 2018; 8: 490. https://doi.org/10.3389/fonc.2018.00490.
  30. Grimmett C.,Pickett K.,Shepherd J., Welch K. , Recio-Saucedoc A., Streit E., Seers H., Armstrong A., Cutress R.I., Evans D. G., Copson E., Meiser B., Eccles D., Foster C. Systematic review of the empirical investigation of resources to support decisionmaking regarding BRCA1 and BRCA2 genetic testing in women with breast cancer. Patient Educ. Couns. 2018; 101 (5): 779-88. https://doi.org/10.10Wj.pec.2017.11.016
  31. Любченко Л.Н. Генетическое тестирование при наследственном раке молочной железы. Практическая онкология. 2014; 15 (3): 107-17.
  32. Батенева Е.И., Кадочникова В.В., Трофимов Д.Ю., Филиппова М.Г, Мещеряков А.А., Любченко Л.Н. Обоснование состава диагностической панели для генетического тестирования больных раком молочной железы и(или) раком яичников: спектр частых мутаций в генах BRCA1 и BRCA2 в российской популяции. Медицинская генетика. 2013; 12 (7): 26-31.
  33. Yokoyama T., Takehara K., Sugimoto N., Kaneko K., Fujimoto E., Okazawa-Sakai M., Okame S., Shiroyama Y, Yokoyama T., Teramoto N., Ohsumi S., Saito S., Imai K. and Sugano K. Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review. BMC Cancer. 2018; 18 (576): 576-80. https://doi.org/10.1186/ s12885-018-4489-0
  34. Мартинков В.Н., Силин А.Е., Надыров Э.А., Силина А.А., Мартыненко С.М. Генетическое тестирование мутаций BRCA1, BRCA2 и CHEK2 у пациенток с первично-множественным раком молочной железы. Молекулярная и прикладная генетика. 2015; 19: 64-8.
  35. Ingles J., Goldstein J., Thaxton C., Caleshu C., Corty E.W., Crowley S.B., Dougherty K. , Harrison S.M., McGlaughon J., Milko L, V., Morales A., Seifert B.A., Strande N., Thomson K., van Tintelen J,P., Wallace K., Walsh R., Wells Q., Whiff N., Witkowski L., Semsarian C., Ware J.S., Hershberger R.E., Funke B. Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circulation-genomic and precision medicine. 2019; 12 (2): e002460. https://doi. org/10.1161/CIRCGEN.119.002460
  36. Peters S., Kumar S., Elliott P., Kalman J.M., Fatkin D. Arrhythmic Genotypes in Familial Dilated Cardiomyopathy: Implications for Genetic Testing and Clinical Management. Heart lung and circulation. 2019; (1): 31-8. https://doi.org/10.10Wj. hlc.2018.09.010
  37. Бокерия О.Л., Кислицина О.Н., Тетвадзе И.В., Мордвинова А.С. Генетическое тестирование у пациентов с нарушениями ритма. Анналы аритмологии. 2010; 7 (4): 16-23. [Bokeriya O.L., Kislicina O.N., Tetvadze I.V, Mordvinova A.S. Genetic testing in patients with arrhythmias. Annaly aritmologii. 2010;7 (4): 16-23 (in Russian)]
  38. Заклязьминская Е.В., Чапурных А.В., Воронина Т.С., Ван Е.Ю., Шестак А.Г, Сабер Р.С., Дземешкевич С.Л. Дилатационная кардиомиопатия, вызываемая мутацией P.E446K в гене SCN5A. Кардиология. 2014; 54 (3): 92-6.
  39. Заклязьминская Е.В., Шестак А.Г, Носкова М.В., Александрова С.А., Дземешкевич С.Л. Аритмогенная кардиомиопатия правого желудочка: разработка ДНК-диагностики и клиническое применение. Клиническая и экспериментальная хирургия. Журнал имени академика Б.В Петровского. 2013; 1: 91-6.
  40. Benes L.B., Brandt D.J., Brandt E.J., Davidson M.H. How Genomics Is Personalizing the Management of Dyslipidemia and Cardiovascular Disease Prevention. Curr. Cardiol. Rep. 2018; 20: 138. https://doi. org/10.1007/s11886-018-1079-3.
  41. Rodriguez A., Pajukanta P Genomics and systems biology approaches in the study of lipid disorders. Revista de investigacion clinica-clinical and translational investigation. 2018; 70 (5) 217-23. https://doi. org/10.24875/RIC.18002576
  42. Кожанова Т.В., Неудахин Е.В., Жилина С.С., Мещерякова Т.И., Абрамов А.А., Лукаш Е.Н., Притыко А.Г Генетическая предрасположенность к развитию атеросклероза. Архив внутренней медицины. 2018; 6: 407-17. https://doi. org/10.20514/2226-67042018-8-6-407-417.
  43. Курбанисмаилова П.М., Попова А.Б., Драненко Н.Ю., Сергиенко И.В. Проблема выявления пациентов с семейной гиперхолестеринемией. Клиническая практика. 2017; 3 (31): 61-9.
  44. Колпачкова Е.В., Соколова А.А., Напалков Д.А. Персонализированная медицина в кардиологии: состояние проблемы и перспективы. Медицинский совет. 2017; 12: 162-8
  45. Golfeyz S., Lewis S., Weisberg I.S. Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. Expert review of gastroenterology & hepatology 2018; 12 (8): 767-78. https://doi.org/10.1080/174741 24.2018.1496016
  46. Greulich T., Vogelmeier C.F. Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis. Therapeutic advances in respiratory disease. 2016; 10 (1): 72-84. https://doi. org/10.1177/1753465815602162
  47. Bishay R.H., Greenfield J.R. A review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODY. Medical journal of Australia. 2016; 205 (10): 480-5. https://doi. org/10.5694/mja16.00458
  48. Amed S., Oram R. Maturity-Onset Diabetes of the Young (MODY): Making the Right Diagnosis to Optimize Treatment. Canadian journal of diabetes. 2016; 40 (5): 449-54. https://doi.org/10.1016/jjcjd.2016.03.002
  49. Adams J.D., Vella A. What Can Diabetes-Associated Genetic Variation in TCF7L2 Teach Us About the Pathogenesis of Type 2Diabetes? Metabolic syndrome and related disorders. 2018; 16 (8): 383-9. https:// doi.org/10.1089/met.2018.0024
  50. Wolfe C.M., Fitz N.F., Nam K.N., Lefterov I., Koldamova R. The Role of APOE and TREM2 in Alzheimers Disease Current Understanding and Perspectives. Int. J. Mol. Sci. 2019; 20 (1): 81-101. https://doi.org/10.3390/ ijms20010081
  51. Campello E., Spiezia L., Simioni P. Diagnosis and management of factor V Leiden. Expert review of hematology 2016; 9 (12): 1139-49. https://doi.org/10.1080/17474086. 2016.1249364
  52. Ижевская В.Л. Этические проблемы клинического применения современных методов анализа генома. Сборник статей «Молекулярно-биологические технологии в медицинской практике», Общество с ограниченной ответственностью «Академиздат» (Новосибирск). 2016; 18-31.

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