Genomics and Personalized Medicine

Hubert E. Blum

Abstract


Personalized medicine (also termed individualized medicine, precision medicine, genomic medicine or personalized genomics) increasingly contributes to recent advances in the understanding of the pathogenesis as well as the prevention and the management of different diseases. In this context, genome-wide association studies and next-generation sequencing, including exome and whole genome sequencing as well as pharmacogenomics and novel cancer therapy strategies are expected to improve medical decision-making with respect to the diagnosis, prevention and treatment of patients. Many obstacles remain to be overcome, however, before personalized medicine can be widely implemented in clinical practice.

Keywords


array analyses, next generation sequencing, exome sequencing, whole genome sequencing, pharmacogenomics, immune checkpoint blockade, cancer genomics, personalized cancer medicine

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References


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Landrigan CP, Parry GJ, Bones CB, Hackbarth AD, Goldmann DA, Sharek PJ. Temporal trends in rates of patient harm resulting from medical care. N Engl J Med 2010;363:2124-2134.

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Brufsky AM. Long-term management of patients with hormone receptor-positive metastatic breast cancer: Concepts for sequential and combination endocrine-based therapies. Cancer Treat Rev 2017;59:22-32.

Loibl S, Gianni L. HER2-positive breast cancer. Lancet 2017;389:2415-2429.

Hayes DF. HER2 and breast cancer - a phenomenal success story. N Engl J Med 2019;381:1284-1286.

Dietel M. Molecular Pathology: A requirement for precision medicine in cancer. Oncol Res Treat 2016;39:804-810.

Hutter C, Zenklusen JC. The cancer genome atlas: creating lasting value beyond its data. Cell 2018;173:283-285.

Doherty GJ, Petruzzelli M, Beddowes E, Ahmad SS, Caldas C, Gilbertson RJ. Cancer treatment in the genomic era. Annu Rev Biochem 2019;88:247-280.

Wei SC, Duffy CR, Allison JP. Fundamental mechanisms of immune checkpoint blockade therapy. Cancer Discov 2018;8:1069-1086.

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Uncategorized References

Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.

Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, et al. The sequence of the human genome. Science 2001;291:1304-1351.

Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 2008;118:1590-1605.

Manolio TA, Collins FS. The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med 2009;60:443-456.

Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med 2015;372:793-795.

Manolio TA, Rowley R, Williams MS, Roden D, Ginsburg GS, Bult C, Chisholm RL, et al. Opportunities, resources, and techniques for implementing genomics in clinical care. Lancet 2019;394:511-520.

Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, et al. Points to Consider: Ethical, Legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 2015;97:6-21.

Corcoran RB, Chabner BA. Application of cell-free dna analysis to cancer treatment. N Engl J Med 2018;379:1754-1765.

Roden DM, McLeod HL, Relling MV, Williams MS, Mensah GA, Peterson JF, Van Driest SL. Pharmacogenomics. Lancet 2019;394:521-532.

Landrigan CP, Parry GJ, Bones CB, Hackbarth AD, Goldmann DA, Sharek PJ. Temporal trends in rates of patient harm resulting from medical care. N Engl J Med 2010;363:2124-2134.

van der Wouden CH, Cambon-Thomsen A, Cecchin E, Cheung KC, Davila-Fajardo CL, Deneer VH, Dolzan V, et al. Implementing Pharmacogenomics in Europe: Design and Implementation Strategy of the Ubiquitous Pharmacogenomics Consortium. Clin Pharmacol Ther 2017;101:341-358.

Brufsky AM. Long-term management of patients with hormone receptor-positive metastatic breast cancer: Concepts for sequential and combination endocrine-based therapies. Cancer Treat Rev 2017;59:22-32.

Loibl S, Gianni L. HER2-positive breast cancer. Lancet 2017;389:2415-2429.

Hayes DF. HER2 and Breast Cancer - A phenomenal success story. N Engl J Med 2019;381:1284-1286.

Dietel M. Molecular Pathology: A Requirement for precision medicine in cancer. Oncol Res Treat 2016;39:804-810.

Hutter C, Zenklusen JC. The Cancer genome atlas: creating lasting value beyond its data. Cell 2018;173:283-285.

Doherty GJ, Petruzzelli M, Beddowes E, Ahmad SS, Caldas C, Gilbertson RJ. Cancer treatment in the genomic era. Annu Rev Biochem 2019;88:247-280.

Wei SC, Duffy CR, Allison JP. Fundamental Mechanisms of Immune checkpoint blockade therapy. Cancer Discov 2018;8:1069-1086.

Sharma P, Allison JP. The future of immune checkpoint therapy. Science 2015;348:56-61.




DOI: http://dx.doi.org/10.18103/imr.v6i2.845

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