Genomics and predictive medicine
https://doi.org/10.29001/2073-8552-2021-36-4-14-28
Abstract
Progress in understanding of structural and functional human genome organization and deciphering primary DNA sequence in human cells allowed for hitherto unreachable new capabilities of medical genetics in identifying the causes and mechanisms of inherited and inborn pathology. Implementation of genetics into medicine is progressively advancing along with improvement of molecular analysis of genome. Knowledge of genome and its functions allows to provide more accurate diagnosis, predict, to a considerable extent, the presence of genetic predisposition of a person to pathology, and to assess the chances for developing one or another disease. This approach became the basis for a new area of medical genetics named predictive medicine. The progress of predictive medicine refl ects success in tremendous upgrowth of molecular genetic methods and new capabilities of studying structure and functions of genome. Within less than 15 years after deciphering genome, medical genetics has travelled a long way from a single gene analysis to whole genome studies, from screening of genetic associations to systems genetics of multifactorial diseases, from translational to high-precision genetics, and from genetic passport idea to electronic genetic health records. The development of a genetic passport, prognostic genetic testing, and genomic chart of reproductive health is especially relevant for current practical medicine.
Keywords
About the Author
V. S. BaranovRussian Federation
Dr. Sci. (Med.), Professor, Corresponding Member of the Russian Academy of Sciences, Honored Scientist of the Russian Federation, Chief Research Scientist, Department of Genomic Medicine
3, Mendeleevskaya liniya, Saint Petersburg, 199034, Russian Federation
References
1. Hereditary diseases. National guidelines; ed. by N.P. Bochkov, E.K. Ginter, V.P. Puzyrev. Moscow: GEOTAR-Media; 2012:757 (In Russ.).
2. Baranov V.S. The program “Human Genome” as a scientifi c basis for preventive medicine. Bulletin of the Russian Academy of Medical Sciences. 2000;(10):27–37 (In Russ.).
3. Baranov V.S. Genome paths: A way to personalized and predictive medicine. Acta Naturae. 2009;1(3):77–88.
4. Puzyrev V.P. Genetics of multifactorial diseases: between the past and the future. Medical Genetics. 2003;2(12):498–508 (In Russ.).
5. Puzyrev V.P. Medical pathogenetics. Vavilov Journal of Genetics and Breeding. 2014;18(1):7–21 (In Russ.).
6. Baranov V.S., Kuznetsova T.V., Kashcheeva T.K., Ivashchenko T.E. Prenatal diagnosis of hereditary diseases. State and prospects. St. Petersburg: Publishing house of ECO «Vector»; 2020:569 (In Russ.)
7. Baranov V.S., Baranova E.V., Ivashchenko T.E., Aseev M.V. Human genome and predisposition genes. Introduction to predictive medicine. St.Petersburg: Publishing house «Intermedika»; 2000:263 (In Russ.).
8. Genetic passport-the basis of individual and predictive medicine; ed. by V.S. Baranov. St. Petersburg: Publishing house «N-L»; 2009:527 (In Russ.).
9. Puzyrev V.P. Genomic medicine: the present and the future. In: Molecular biological technologies in medical practice; ed. by V.P. Puzyrev. Vol. 3. Novosibirsk: Alfa Vista; 2003:3–26 (In Russ.).
10. Puzyrev V.P., Stepanov V.A. Pathological anatomy of the human genome. Novosibirsk: Nauka; 1997:223 (In Russ.).
11. Manolio T.A., Collins Fr.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J. et al. Finding the missing heritability of complex diseases. Nature. 2009;461(7265): 747–753. DOI: 10.1038/nature08494.
12. Eicher E., Flint J., Gibson G., Kong A., Leal S.M., Moore J.H. et al. Missing heritability and strategies for finding the underlining causes of complex diseases. Nat. Rev. Genet.2010;11(6):446–450. DOI: 10.1038/nrg2809.
13. Puzyrev V.P. Phenomic-genomic relations and pathogenetics of multifactorial diseases. Bulletin of the Russian Academy of Medical Sciences. 2011;(9):17–27 (In Russ.).
14. Baranov V.S. Human genome, “missing” heredity and genetic passport. Medical Genetics. 2011;10(3):3–10 (In Russ.).
15. Wand H., Lambert S.A., Tamburro C., Iacocca M.A., O’Sullivan J.W., Sillari C. et al. Improving reporting standards for рolygenic scores in risk prediction studies. Nature. 2021;591(7849):213–219. DOI: 10.1038/s41586-021-03243-6.
16. Baranov V.S., Baranova E.V. The human genome. Epigenetics of multifactorial diseases and personalized medicine. The Biosphere. 2012;4(1):77–8517 (In Russ.).
17. Lander E.S. Cutting the Gordian helix-regulating genomic testing in the era of precision medicine. N. Engl. J. Med. 2015;372(13):1185–1186. DOI: 10.1056/NEJMp1501964.
18. Hussain S. A new conceptual framework for investigating complex genetic disease. Front. Genet. 2015;6:327. DOI: 10.3389/fgene.2015.00327.
19. Podkolodnyy N.L., Podkolodnaya O.A. Ontologies in bioinformatics and systems biology. Vavilov Journal of Genetics and Breeding. 2015;19(6):652–663 (In Russ.). DOI: 10.18699/VJ15.090.
20. Williams S. Companies are building platforms based on blockchain technology to let individuals control and directly profit from their genomic ad medical inflammation. The Scientists. 2018. URL: https://www.the-scientist.com
21. Purcell S.M., Moran J.L., Fromer M., Ruderfer D., Solovieff N., Roussos P. et al. Apolygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014;506(7487):185–190. DOI: 10.1038/nature12975.
22. Van El C.G., Cornel M.C., Borry P., Hastings R.J., Fellmann F., Hodgson S.V. et al. Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 2013;21(6):580–584. DOI: 10.1038/ejhg.2013.46.
23. Baranov V.S., Baranova E.V. Genetic passport: yesterday, today breakfast. Bulletin of Roszdravnadzor. 2018;(2):22–29 (In Russ.).
24. Кarczewski K.J., Syder M.P. Integrative omics for health and disease. Nat. Rev. Gen. 2018;19(5):299–310. DOI: 10.1038/nrg.2018.4.
25. Gibson G. Rare and common variants: Тwenty arguments. Nat. Rev. Genet. 2012;13(2):135–145. DOI: 10.1038/nrg3118.
26. Robinson M.R., Wray N.R., Visscher P.M. Explaining additional genetic variation I in complex traits. Trends Genet. 2014;30(4):124–132. DOI: 10.1016/j.tig.2014.02.003.
27. Puzyrev V.P., Kucher A.N. Evolutionary and ontogenetic aspects of the pathogenetics of chronic human diseases. Genetics. 2011;47:(12):1573–1585 (In Russ.).
28. Ritchi M.D., Andrade M., Kuivaniemi H. The foundation of precision medicine integration of electronic health records with genomics through basic, clinical and translational research. Front. Genet. 2015;6:104. DOI: 10.3389/fgene.2015.00104.
29. Von Bertalanffy L. General system theory: Foundations, development and perspective. New York: George Brazzillier; 1968:295.
30. Sieberts S.K., Schadt E.E. Moving toward a system genetics view of disease. Mamm. Genome. 2007;18(6–7):389–401. DOI: 10.1007/s00335-007-9040-6.
31. Middha S., Lindor N.M., McDonnell S.K., Olson J.E., Johnson K.J., Wieben E.D.et al. How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples. Front. Genet. 2015;6:244. DOI: 10.3389/fgene.2015.00244.
32. Zeng T., Huang T., Lu C. Editorial: Machine learning advances dynamic omics data analysis for precision medicine. Front. Genet. 2020;10:1343. DOI: 10.3389/fgene.2019.01343.
33. Baranov V.S., Ivaschenko T.E., Yarmolinskaya M.I. Comparative systems genetics view of endometriosis and uterine leyomyoma. Two sides of the same coin? Syst. Biol. Reprod. Med. 2016;62(2):93–105. DOI: 10.3109/19396368.2015.1123325.
34. Baranov V.S., Ivaschenko T.Е., Liehr T., Yarmolinskaya M.I. Systems genetics view of endometriosis: А common complex disorder. Eur. J. Obstet. Gynecol. Reprod. Biol. 2015;185:59–65. DOI: 10.1016/j.ejogrb.2014.11.036.
35. Osinovskaya N.S., Malysheva O.V., Shved N.Y., Ivashchenko T.E., Sultanov I.Y., Efi mova O.A. et al. Frequency and spectrum of MED12 exon 2 mutations in multiple versus solitary uterine leiomyomas from Russian patients. Int. J. Gynecol. Pathol. 2016;35(6):509–515.
36. European Science Foundation. Personalized Medicine for the European citizen – towards more precise medicine for the diagnosis, treatment and prevention of disease. 2012. URL: http://archives.esf.org.
37. Bank M.A. Researches develop standards for reporting polygenic risk scores. The Scientists. 2021. URL: https://www.the-scientist.com.
Review
For citations:
Baranov V.S. Genomics and predictive medicine. Siberian Journal of Clinical and Experimental Medicine. 2021;36(4):14-28. https://doi.org/10.29001/2073-8552-2021-36-4-14-28