Precision medicine, technologies, and molecular diagnostics

authors:

avatar Maryam Eslami , * , avatar Helia Mojahed Yazdi , avatar Kimia Hariri , avatar Fatameh Rohoullah , avatar Karim Nayernia

Koomesh: Vol.24, issue 2; 221-229
published online: July 01, 2022
article type: Research Article
received: May 01, 2021
accepted: January 01, 2022

how to cite: Eslami M, Mojahed Yazdi H, Hariri K, Rohoullah F, Nayernia K. Precision medicine, technologies, and molecular diagnostics. koomesh. 2022;24(2):e152664. 

Abstract

Introduction: Genetics, cellular and molecular medicines are cutting-edge sciences and technologies that play an important role in improving human health and quality of life. In addition, medical and biological sciences have clearly shown that the onset of diseases differs from person to person due to their different genetic profiles and variations in molecular basis. Therefore, it is feasible that patients respond differently to a single treatment. Personalized medicine is a new field of medicine aims to tailor medical treatments to the individual characteristics of patients. In this review, in addition to genomics and personalized medicine, we touch upon common techniques in this field and the future of personalized medicine. With this development, people can get more information about the possibility of contracting diseases like cancer and early-stage treatments as well as personalized therapies based on their genetic characteristics. Technologies, such as mutation detection in the genome, microarrays or microchips, and next-generation sequencing of the human genome, have not only made molecular detection better and easier but also facilitated the integration of molecular detection with targeted drug delivery for the development of novel personalized treatment.

References

  • 1.

    Collins FS, Fink L. The human genome project. Alcohol Health Res World 1995; 19: 190-195.

  • 2.

    Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters L. New goals for the U.S. Human Genome Project: 1998-2003. Science 1998; 282: 682-669.

  • 3.

    Jain KK, Jain K. Textbook of personalized medicine. Springer 2009.

  • 4.

    Esplin ED, Oei L, Snyder MP. Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease. Pharmacogenomics 2014; 15: 1771-1790.

  • 5.

    Gonzalez-Garay ML. The road from next-generation sequencing to personalized medicine. Personal Med 2014; 11: 523-544.

  • 6.

    Suwinski P, Ong C, Ling MH, Poh YM, Khan AM, Ong HS. Advancing personalized medicine through the application of whole exome sequencing and big data analytics. Front Genet 2019; 10: 49.

  • 7.

    Mardis ER. Genome sequencing and cancer. Curr Opin Genet Dev 2012; 22: 245-250.

  • 8.

    Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, et al. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGNrelated epilepsy. Am J Med Genet A 2016; 170: 77-86.

  • 9.

    Ginsburg GS, Willard HF. Essentials of genomic and personalized medicine 2009: Academic Press.

  • 10.

    Nayernia K, Eslami M, Mojahedyazdi H, Hariri K Introduction to Personalized Medicine. Teimourzadehnovin 2019; 35-65.

  • 11.

    Regierer, B., et al. Future of Medicine: Models in##Predictive Diagnostics and Personalized Medicine, in Molecular Diagnostics, Springer 2013. p. 15-33.

  • 12.

    Weinshilboum RM, Wang L. Pharmacogenomics: precision medicine and drug response. in Mayo clinic proceedings. Elsevier 2017; 92: 1711-1722.

  • 13.

    Kantae V, Krekels EH, Esdonk MJ, Lindenburg P, Harms AC, Knibbe CA, et al. Integration of pharmacometabolomics with pharmacokinetics and pharmacodynamics: towards personalized drug therapy. Metabolomics 2016; 13: 9.

  • 14.

    Tyers M, Mann M. From genomics to proteomics. Nature 2003; 422: 193-197.

  • 15.

    Andreu-Perez J, Poon CC, Merrifield RD, Wong ST, Yang GZ. Big data for health. IEEE J Biomed Health Inform 2015; 19: 1193-1208.

  • 16.

    Nice EC. From proteomics to personalized medicine: the road ahead. Exp Rev Proteomics 2016; 13: 341-343.

  • 17.

    Duarte TT, Spencer CT. Personalized proteomics: the future of precision medicine. Proteomes 2016; 4: 29.

  • 18.

    Jain KK. Role of proteomics in the development of personalized medicine. Adv Protein Chem Struct Biol 2016; 102: 41-52.

  • 19.

    Weston AD, Hood L. Systems biology, proteomics, and the future of health care: toward predictive, preventative, and personalized medicine. J Proteome Res 2004; 3: 179-196.

  • 20.

    Yu X, Schneiderhan-Marra N, Joos TO. Protein microarrays for personalized medicine. Clin Chemistry 2010; 56: 376-387.

  • 21.

    Brown PO, Botstein D. Exploring the new world of the genome with DNA microarrays. Nat Genet 1999; 21: 33-37.

  • 22.

    Taylor RF, Microarrays. KirkOthmer Encyclopedia of Chemical Technology, John Wiley Sons, Inc.2000.

  • 23.

    Hoheisel JD. Microarray technology: beyond transcript profiling and genotype analysis. Nat Rev Genet 2006; 7: 200-210.

  • 24.

    Frese KS, Katus HA, Meder B. Next-generation sequencing: from understanding biology to personalized medicine. Biology 2013; 2: 378-398.

  • 25.

    Rabbani B, Nakaoka H, Akhondzadeh S, Tekin M, Mahdieh N. Next generation sequencing: implications in personalized medicine and pharmacogenomics. Mol BioSyst 2016; 12: 1818-1830.

  • 26.

    Chen G, Shi T. Next-generation sequencing technologies for personalized medicine: promising but challenging. Sci China Life Sci 2013; 56: 101.

  • 27.

    Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol 2008; 26: 1135-1145.

  • 28.

    Bodian DL, Klein E, Iyer RK, Wong WS, Kothiyal P, Stauffer D, et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. Genet Med 2016; 18: 221-230.

  • 29.

    Ji Y, Si Y, McMillin GA, Lyon E. Clinical pharmacogenomics testing in the era of next generation sequencing: challenges and opportunities for precision medicine. Expert Rev Mol Diagn 2018; 18: 411-421.

  • 30.

    Li H, Yang Y, Hong W, Huang M, Wu M, Zhao X. Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects. Signal Transduct Target Ther 2020; 5: 1.

  • 31.

    Dwivedi S, Purohit P, Misra R, Pareek P, Goel A, Khattri S, et al. Diseases and molecular diagnostics: a step closer to precision medicine. Indian J Clin Biochem 2017; 32: 374-398.

  • 32.

    Katsanis SH, Katsanis N. Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 2013; 14: 415-426.

  • 33.

    Debnath M, Prasad GB, Bisen PS. Molecular diagnostics: promises and possibilities. Spring Sci Business Media 2010.

  • 34.

    Jain KK. Role of nanobiotechnology in the development of personalized medicine. Nanomedicine (Lond) 2009.

  • 35.

    Little S. Amplification-refractory mutation system (ARMS) analysis of point mutations. Curr Protoc Hum Genet 2001; 9: 8-9.

  • 36.

    Casadei S, Cortesi L, Pensotti V, Radice P, Pierotti M, Amadori D, Calistri D. Detection of germline BRCA1 mutations by multiple-dye cleavase fragment length polymorphism (MD-CFLP) method. Br J Cancer 2001; 85: 845-849.

  • 37.

    Robinson MD, McCarthy DJ, Smyth GK. A Bioconductor package for differential expression analysis of digital gene expression data. Bioinformatics 2010; 26: 139-140.

  • 38.

    Graham A, Steven J, McKechnie D. Direct dideoxy DNA sequencing. Methods Mol Biol 1988; 4: 89-101.

  • 39.

    Chen JZ, Smith L, Pfeifer GP, Holmquist GP. Fluorescence-based directed termination PCR: direct mutation characterization without sequencing. Nucleic Acids Res 2001; 29: E17.

  • 40.

    Shuber AP, Michalowsky LA, Scott Nass G, Skoletsky J, Hire LM, Kotsopoulos SK, et al. High throughput parallel analysis of hundreds of patient samples for more than 100 mutations in multiple disease genes. Hum Mol Genet 1997; 6: 337-347.

  • 41.

    Zanoli LM, Spoto G. Isothermal amplification methods for the detection of nucleic acids in microfluidic devices. Biosensors (Basel) 2012; 3: 18-43.

  • 42.

    Dong Y, Zhu H. Single-strand conformational polymorphism analysis: basic principles and routine practice. Methods Mol Med 2005; 108: 149-157.

  • 43.

    Ponchel F, Toomes C, Bransfield K, Leong FT, Douglas SH, Field SL, et al. Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions. BMC Biotechnol 2003; 3: 18.

  • 44.

    Kurg A, Tnisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A. Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology. Genet Test 2000; 4: 1-7.

  • 45.

    Chen WW, Balaj L, Liau LM, Samuels ML, Kotsopoulos SK, Maguire CA, et al. BEAMing and droplet digital PCR analysis of mutant IDH1 mRNA in glioma patient serum and cerebrospinal fluid extracellular vesicles. Mol Ther Nucleic Acids 2013; 2: e109.

  • 46.

    Casey G, Lindor NM, Papadopoulos N, Thibodeau SN, Moskow J, Steelman S, et al. Colon Cancer Family Registry. Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. JAMA 2005; 293: 799-809.

  • 47.

    Pellestor F, Paulasova P. The peptide nucleic acids (PNAs), powerful tools for molecular genetics and cytogenetics. Eur J Hum Genet 2004; 12: 694-700.

  • 48.

    Chen Y, Podlevsky JD, Logeswaran D, Chen JJ. A single nucleotide incorporation step limits human telomerase repeat addition activity. EMBO J 2018; 37: e97953.

  • 49.

    Nagy M, Entz P, Otremba P, Schoenemann C, Murphy N, Dapprich J. Haplotype-specific extraction: a universal method to resolve ambiguous genotypes and detect new alleles - demonstrated on HLA-B. Tissue Antigens 2007; 69: 176-180.

  • 50.

    Shalek AK, Benson M. Single-cell analyses to tailor treatments. Sci translat Med 2017; 9.

  • 51.

    Dolsten M, Sgaard M. Precision medicine: an approach to RD for delivering superior medicines to patients. Springer 2012.

  • 52.

    Seymour CW, Gomez H, Chang CC, Clermont G, Kellum JA, Kennedy J, et al. Precision medicine for all? Challenges and opportunities for a precision medicine approach to critical illness. Critical Care 2017; 21: 257.

  • 53.

    Duffy DJ. Problems, challenges and promises: perspectives on precision medicine. Brief Bioinform 2015; 17: 494-504.

  • 54.

    Jain KK. Ethical aspects of personalized medicine, in textbook of personalized medicine. Springer 2015; 655-664.

  • 55.

    Feng Y, Xie Z, Jiang X, Li Z, Shen Y, Wang B, Liu J. The applications of promoter-gene-engineered biosensors. Sensors 2018; 18: 2823.

  • 56.

    Pourmoshir N, Mohamadi Farsani F, Vallian Borujeni S. Next generation sequencing and its application in diagnosis of genetic diseases. J Res Med Sci 1395; 34: 56. (Persian).

  • 57.

    Kavoosi F, Ghafouri F. Microarray Technology application, advantages and disadvantages. Quart J DOMESTIC 1398; 19: 28-33. (Persian).

  • 58.

    Fakhr E, Motamed N, Habibi Rezaei M. Genetics in the third mellenium 1390; 9: 2481-2488. (Persian).

  • 59.

    Buermans HP, Dunnen JT. Next generation sequencing technol ogy: advances and applications. Biochim Biophys Acta 2014; 1842: 1932-1941.

  • 60.

    Narrandes S, Xu W. Gene expression detection assay for cancer clinical use. J Cancer 2018; 9: 2249-2265.

  • 61.

    Youns M, Efferth T. Microarray analysis of gene expression in medicinal plant research. Drug Discov Ther 2009; 3: 193-199.

  • 62.

    Amiri S, Alireza TN, Sharif Sirchii G. Cloning and DNA sequence analysis of the glucose transporter gene2 from Iranian Saccharomyces cerevisiae. Koomesh 2013; 14: 138-144. (Persian).

  • 63.

    Vajdi Hokm Abad S, Alijani S, Daghigh kia H, et al. Bioinformatics analysis of E. coli causing mastitis in Holstein dairy cattle by using microarray data. Koomesh 2015; 17: 214-223. (Persian).

  • 64.

    Eslami M, Asgarian R, Chegini F, Ay J, Nayernia K. Introduction to Tissue engineering, application and challenges. Eslami 2018; 134-132,177-180,277-279. (Persian).

  • 65.

    Eslami M, Gholampour Mogehi N, Bahadori M, Nayernia K. Introduction to proteomics, principles and applications. Eslami 2018; 146-147. (Persian).##.