Concept of personalised medicine is important and an essential field to be developed, where the incorporation of personal genetic information has led to robust improvements in clinical care, particularly the use of large-scale DNA sequencing for genome-wide genetic testing. The advances in genome sequencing technologies at cheaper cost, has allowed more and more patients to be profiled at the molecular level. The identification of common disease risk variants has undoubtedly revealed new biology and potential new avenues for therapeutic intervention. Ongoing genome sequencing studies likely will identify rare variants that may improve the predictability for some diseases, but further development of risk prediction algorithms is needed. In addition to genomic sequence data, these algorithms could include other forms of clinical, demographic, epigenomic and environment.
Personalised medicine in cancer is also an evolving approach to cancer care to leverage new knowledge regarding the pathogenesis of cancer to more precisely targeted therapy. Advances in tumour genomics have enabled discovery of actionable alterations leading to novel therapies. Currently, there are approved targeted therapies across various tumours that can be matched to genomic alterations. Genomic and transcriptomic technologies make the analysis of gene expression signatures and mutation status possible so that tumours may be classified more accurately with respect to diagnosis and prognosis. The -omic era has also made possible the identification of new biomarkers that will ultimately be translated into better clinical outcomes for patients.
Apart from this, pharmacogenetics and pharmacogenomics are another area of personalised medicine which aims to improve the efficacy of medication selection and dosing through genomic testing. They deal with genetically determined variants in how individuals respond to drugs and hold the promise to revolutionize drug therapy by tailoring it according to individual genotypes. The clinical need for novel approaches to improve drug therapy derives from the high rate of adverse reactions to drugs and their lack of efficacy in many individuals that may be predicted by pharmacogenetic testing.
The effective use of genomics in clinical practice cannot be realized by simply scaling up of gene-by-gene approaches. Large-scale genome sequencing raises qualitatively different issues regarding informed consent, return of results, intellectual property, and privacy than traditional medical genetics. Ethics and policy must adapt accordingly to genomic and DNA sequencing technologies.