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By Inga Stevens, Informa Life Sciences Editorial Contributor
According to the NHS England, personalised medicine (otherwise known as precision medicine) is a move away from a ‘one size fits all’ approach to the treatment and care of patients with a particular condition, to “one which uses new approaches to better manage patients’ health and targets therapies to achieve the best outcomes in the management of a patient’s disease or predisposition to disease.” Other definitions, such as that from the US National Cancer Institue (NCI), define it as a form of medicine that uses information about a person’s genes, proteins, and environment to prevent, diagnose, and treat disease. Whatever the definition, one thing is clear; scientific developments are critical for the advancement of personalised therapeutics and diagnostics.
While personalised medicine has been around for centuries (George Church collaborated with Harvard professor and Nobelist Walter Gilbert to develop the first direct genome sequencing method in 1984), it is the many recent advances happening in our medical laboratories – from molecular diagnostics to DNA sequencing and companion diagnostics – that has made it possible for the medical world to deliver truly individualised patient care at a lower cost.
The real breakthrough in personalised medicine came in 2003 with the completion of the The Human Genome Project (HGP), an international research effort to sequence and map all of the genes, which, according to the National Human Genome Research Institute (NHGRI), gave us the ability, for the first time, to read nature's complete genetic blueprint for building a human being. Accordingly, the NHGRI’s definition of personalised medicine maintains that a personalised approach to medicine includes an “individual’s genetic profile to guide decisions made in regard to the prevention, diagnosis and treatment of disease.”
Since the completion of HGP, the role of genetics has played an enormous role in personalised medicine, allowing for the creation of a more unified treatment approach specific to the individual and their genome.
While the US and Europe are ahead of the game in the development, implementation and use of molecular diagnostics in personalised medicine, the medical laboratory community in the Middle East also now has access to the latest research and insights into the evolving sector. Delegates at the MEDLAB Exhibition and Congress, the world’s leading event for laboratory management and diagnostics, which took place earlier this year at the Dubai International Convention and Exhibition Centre, heard from Dr PK Menon who is the director of laboratory services at GMC Diagnostics in Ajman, UAE, about the immense potential of 4th generation DNA sequencing to cure genetically inherited diseases, among others.
The ability to take genomics, an area within genetics that concerns the sequencing and analysis of an organism's genome, from the laboratory bench in hi-tech labs literally to the patient’s bedside will play a very important role in the future of the health of patients across the region.
According to Dr Menon, this new disruptive technology will, in the next couple of years, change how we understand genes and enable us to actually take genomics from the laboratory to the patient’s bedside for a more personalised approach.
“Our genes decide what a person is going to be like, what metabolic diseases they could suffer from and the possible cancers which may develop if the individual does not lead a healthy life,” he explained during the Congress. “DNA-based testing is gaining importance in the region and, in the times to come, more and more individuals will use DNA sequencing as a tool in precision medicine to guide themselves into predictive positive health.”
While the UAE has many labs that carry out 1st and 2nd generation sequencing, generating massive amounts of data over a longer period of time, the Centre for Biomedical Research and Innovation at the Gulf Medical University in Ajman has acquired the first 4th generation sequencer in the region where they are hoping to innovate and bring in newer diagnostic capabilities allowing patients to get their results much faster.
In keeping with the idea personalising our approach to medicine in the region, the overall theme of the recent MEDLAB Congress centred around bridging the gap between clinicians and laboratory workers in all areas of healthcare.
According to Simon Page, the Managing Director of Informa Life Sciences Exhibitions, the organisers of the global series of MEDLAB events, “The relationship between the laboratory and the clinician has become increasingly important as countries in the region continue to adopt a patient-centric approach to healthcare. Each step in the process is critically important and, for the implementation of personalised medicine, all parties included should work together to deliver a more holistic approach.”
Another critical area of personalised medicine is pharmacogenetics. According to the US National Library of Medicine (NLM), this relatively new field combines pharmacology (the science of drugs) and genomics to develop effective, safe medications and doses that will be tailored to a person’s genetic makeup.
While the field of pharmacogenomics is still in its infancy and its use is currently quite limited, the NLM believes that in the future, pharmacogenomics will allow the development of tailored drugs to treat a wide range of health problems, including cardiovascular disease, Alzheimer’s disease, cancer, HIV/AIDS, and asthma.
Recent advances in companion diagnostics - tests that help determine whether a patient should receive a particular drug therapy or how much of the drug to give - are proving to be a useful tool to improve pharmacotherapy.
According to the US Food & Drug Administration (FDA), a companion diagnostic device can be an in-vitro diagnostic device or an imaging tool that provides information that is essential for the safe and effective use of a corresponding therapeutic product. While in the US, the development of both products requires close collaboration between experts in both FDA’s device centre and FDA’s drug centre for approvals, in Europe, diagnostic tests are not regulated or approved; rather, marketing of test requires that the sponsor obtain a “CE” Marking (Conformité Européene) indicating that the product had been assessed and meets European Union (EU) safety, health, and environmental protection requirements.
The best-known examples of FDA-defined companion diagnostics come from the field of oncology, however, other therapeutic areas are beginning to emerge, including cystic fibrosis, human immunodeficiency virus (HIV), and severe growth failure.
According to a recent report by Market Data Forecast, the Middle East and Africa companion diagnostics market was worth $0.37 billion in 2016 and estimated to be growing at a CAGR of 21.19%, to reach $0.96 billion by 2021. The report sites next-generation sequencing-based companion diagnostics as one of the major factors that will drive the market while regulatory uncertainty and cost allied with developing drugs are expected to impede market growth in the region.
While the promise of personalised medicine offers tangible, exciting possibilities and is practised more widely, a number of ethical, economic and practical challenges arise, particularly with it’s implementation and moral and cultural acceptance. There is the issue of what to do with all the masses of genetic data generated by the next-generation sequencing, as well as the question of cost and who should pay for the testing and the issue of patient privacy and confidentiality.
Regulatory bodies will be required to implement significant changes in order to accommodate the changing landscape as molecularly-targeted personalised medicine goes into the next phase and labs become critical in adding value to the sector. However, the responsibility for promoting this also firmly lies with the pharmaceutical industry, the laboratories, the clinicians and the patients themselves.
Without interdisciplinary cooperation of experts from across the healthcare continuum – from the lab, to the doctor’s consultation room, the surgeon’s table, to the management of information systems in hospitals and to those who pay – there remain a number of obstacles that need to be overcome to make personalised medicine mainstream in the practice of patient care.
Early Examples of Personalised Medicine
1907: Reuben Ottenberg reports the first known blood compatibility test for transfusion using blood typing techniques and cross-matching between donors and patients to prevent hemolytic transfusion reactions.
1956: The genetic basis for the selective toxicity of fava beans (“favism”) and the antimalarial drug primaquine is discovered to be a deficiency in the metabolic enzyme, glucose-6-phosphate dehydrogenase (G6PD).
1977: Cytochrome P450 2D6, a polymorphic metabolising enzyme, is identified as the culprit for causing some patients to experience an “overdose” or exaggeration of the duration and intensity of the effects of debrisoquine, a drug used for treating hypertension.
Source: Paving the Way for Personalized Medicine: FDA’s Role in a New Era of Medical Product Development, October 2013