An important milestone in the history of medical science is the recent completion of the human genome sequence. The progress on identification of approximately 22,000 homo sapiens genes and their regulatory regions provides the framework for understanding the molecular basis of disease. This advance has also laid the foundation for a broad range of genomic tools that can be applied to medical science. These developments in the gene and gene product analysis across the whole genome have opened the way for targeted molecular genetic testing in a number of medical disorders. This is destined to change the practice of medicine.
The future clinical practice will be more focused, precise, and individualized often referred to as “precision and personalised medicine.” However, despite these exciting advances, many practicing clinicians perceive the role of molecular genetics, in particular, that of medical genomics, as confined to the research arena with limited clinical applications. Genomic medicine applies the knowledge and understanding of all genes and genetic variation in human disease. The basic ingredient of the contemporary practice of medicine is clinical molecular medicine that encompasses genetic, genomic, and molecular applications. This article introduces genomics-based advances in personalised disease-susceptibility screening, diagnosis, prognostication, stratified approach for genomics-led therapeutics, and prediction of treatment outcome in various areas of medicine.
Kumar D. The personalised medicine. A paradigm of evidence-based medicine. Ann Ist Super Sanita` 2011;47(1):31!40. Available from: https://doi.org/10.4415/aNN_11_01_08.
Matthews PM, et al. The emerging agenda of stratified medicine in neurology. Nat Rev Neurol 2014;10:15!26.
Hall IP. Stratified medicine: drugs meet genetics. Eur Respir Rev 2013;22:53!7. Available from: https://doi.org/10.1183/ 09059180.00008312.
Tuff-Lacey A, et al. A collaborative approach to enabling stratified cancer medicine in the UK. Drug Discovery Today 2015;20
(12):1414!18. Available from: https://doi.org/10.1016/j.drudis.2015.07.001.
Kumar D. Clinical medicine in the genome era: an introduction. GenoMed 2008;53:145.
World Health Organization, Advisory Committee on Health Research. Genomics and World Health: Report of the Advisory Committee on Health Research. World Health Organization; 2002.
Cooper DN, et al. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat 2010;31 (6):631!55.
Hamburg MA, Collins FS. The path to personalized medicine. New Engl J Med 2010;363(4):301!4.
Green ED, Guyer MS. Charting a course for genomic medicine from base pairs to bedside. Nature 2011;470(7333):204!13.
Snijders AM, et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 2001;29(3):263!4.
Berg JS, Khoury MJ, Evans JP. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet Med 2011;13(6):499!504.
Bloss CS, Schork NJ, Topol EJ. Effect of direct-to-consumer genomewide profiling to assess disease risk. New Engl J Med 2011;364 (6):524!34.
Bieber, T., Stratified medicine: a new challenge for academia, industry, regulators and patients. Stratified Med, 2013: p. 3.
Ziegler A, et al. Personalized medicine using DNA biomarkers: a review. Hum Genet 2012;131(10):1627!38.
Kang SK, et al. A road map of personalized care in radiology. Radiology 2015;277(Number 3):638!43.
Bentley DR. Genomes for medicine. Nature 2004;429(6990):440!5.
Hood LE, Galas DJ. P4 medicine: personalized, predictive, preventive, participatory a change of view that changes everything. N, Biotechnol 29, 2009, 613!624.
Xu LH, et al., The re-emerging concept of personalized healthcare. Personalized Medicine 5(5), 2008. Available from: https://doi.org/ 10.2217/174105184.108.40.2067.
Yang YT, Wiley E, Leppard J. Individualized medicine and pharmacogenomics: ethical, legal and policy challenges. J Med Person 2011;9 (2):48!57.
Richards, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405!23.
Barwell, et al. Challenges in implementing genomic medicine: the 100,000 Genomes Project. J Transl Genet Genom 2018;2:13. Available from: https://doi.org/10.20517/jtgg.2018.17.
Trusheim MR, Berndt ER, Douglas FL. Stratified medicine: strategic and economic implications of combining drugs and clinical biomarkers. Nat Rev Drug Discovery 2007;6(4):287!93.
Silver MA, et al. BNP Consensus Panel 2004: a clinical approach for the diagnostic, prognostic, screening, treatment monitoring, and therapeutic roles of natriuretic peptides in cardiovascular diseases. Congest Heart Fail 2004;10(s5):1!30.
(UK), T.A.O.M.S. Realizing the potential of Startified Medicine. 2013.
Khoury MJ, et al. Multilevel research and the challenges of implementing genomic medicine. JNCI Monogr 2012;44:112!20.
Cardarella S, Ortiz TM, Joshi VA, Butaney M, Jackman DM, Kwiatkowski DJ, et al. The introduction of systematic genomic testing for patients with non–small-cell lung cancer. J. Thorac. Oncol. 2012;7(12):1767!74.
Tsuboi M, et al. The present status of postoperative adjuvant chemotherapy for completely resected non-small cell lung cancer. Ann Thorac Cardiovasc Surg 2007;13(2):73.
Baer-Dubowska W, Majchrzak-Celinska A, Cichocki M. Pharmocoepigenetics: a new approach to predicting individual drug responses and targeting new drugs. Pharmacol Rep 2011;63(2):293!304.
Jaenisch R, Bird A. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet 2003;33:245!54.
Tambuyzer E. Towards a framework for personalized healthcare: lessons learned from the field of rare diseases. Pers Med 2010;7 (5):569!86.
Manolio, et al. Implementing genomic medicine in the clinic: the future is here. Genet Med 2013;15(4):258!67.
Khoury, et al. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?. Genet Med. 2007 Oct;9(10):665-74.
Allbutt TC. The Harveian oration on physiological darkness before Harvey: delivered before the Royal College of Physicians on October 18th. Br Med J 1900;2(2078):1271.
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