Healthcare couture

By | Science & Technology
personalized medicine is an emerging practice that uses individual's genetic profile to provide the right diagnosis

According to the US Food and Drug Administration (FDA), personalised medicine is an emerging practice which uses an individual’s genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of medical conditions using traditional and emerging concepts of the genetic and environmental basis of ailment.

It aims to provide the right diagnosis for prevention or treatment to the correct patient and at the right time. As a result, medical intervention may be tailored to be more effective resulting in fewer undesirable side effects. The field of personalised medicine has expanded a vast amount over the last decade. Starting out as a non-de-plume for pharmacogenomics, the division has since expanded to an extensive spectrum of genomic advances and technologies such as genome wide association studies (GWAS), exome sequencing and next generation sequencing (NGS).

A number of fields including oncology, psychiatry and cardiovascular conditions now utilise personalised genomic medicine for the principle purposes: to adverse drug events (ADE) evaluation to distinguish the contribution of polymorphisms; in the identification of potential biomarkers for specific conditions; and finally, to make an assessment of clinical response utilising targeted therapeutics. The technique integrates genetics into medical practice and, driven by the molecular understanding of conditions, new classification systems have been established.

The cost of sequencing genomic material aims on the decrease and is predicted to continue to drop which may in turn initiate a more rapid development in sequencing technology use on a routine basis (Offit, 2011). Personalised medicine has been looking upon favourably, resulting in positive legislative actions by international regulatory agencies such as the FDA and the European Medicines Agency (EMA). While some of the practice has been introduced to Europe, personalised medicine is still in its infancy and is yet to be fully implemented. Paradigm shifts in the medical research and health care may yet to occur for full uptake of the innovation to occur.

There  seems to have been several benefits to personalised medicine since the 1970s, which saw the first demonstration of human DNA variation and the sequencing of the human genome. For example, more accurate occurrence prediction may be provided due to the discovery that rare mutations in breast cancer (BRCA) genes affect occurrence. Also, studies reveal the possibility of genetic tests to more accurately predict side-effects from drugs like warfarin, statins and clopidorel (Offit, 2011).

The main basis for ethical concern include topics on the subject of who may have their genome sequenced, the type of counselling provided before and after testing and by whom, and more importantly who may have the permission to access an individual’s genetic information. Thus policy relevant advancements have been observed in this area, including the 2008 passage of the Genetic Information Non-Discrimination Act (GINA) in the USA with the intent to protect privacy and mitigate discrimination derived from the application of genetic information. A global initiative has been launched facilitating ethical, legal and social issues research addressing the challenge which personal medicine presents in global policy.

With a future focus, progressive needs of the personalised medicine sector may include full integration and incorporation of this practice into clinical settings and health systems. This may be achieved by employing an infrastructure allowing for large multimodal data sets to accurately model biological complexity, integrating it with vital clinical and patient-centred components including phenotypic features and patient’s history and health status.

Decision-support capacity might also be necessary within the infrastructure, ensuring effective decision algorithms essential for more precise personalised and predictive outcomes for patients. A vision at this capacity might therefore require considerable investment in information technology infrastructure at a national and international level across health systems.

How might personalized medicine lead to tangible health benefits?


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