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Precision Medicine… Precisely

Team TFS
Team TFS
shutterstock_81517210Change is coming. Precise change.

2015 was a very interesting year: Human gene editing with CRISPR-Cas9 (the ethics of which are very much being debated), effective immunotherapy, two promising vaccines against ebola, a drug that successfully slows the advance of Alzheimer’s disease, and in fact the best year for drug development  –  with 50 new drugs coming to market – in the last 50 years.  Many discoveries and innovations have given rise to great excitement. The Precision Medicine Initiative (PMI)  was announced by President Obama and subsequently, National Institutes of Health (NIH) Director Francis Collins explained that precision medicine research will be a top strategic priority from 2016-2020. The UK’s Precision Medicine Catapult was also launched (pun intended!).

When the time comes to review the progress we made in 2016, I believe we will have taken great steps forward in the research into and delivery of precision medicine in particular. In the UK, the 100,000 Genomes Project has already started to see results. We have seen reports in the press of children who were previously undiagnosed, at last receiving answers following the sequencing of their DNA because of this initiative.

What is precision medicine?

But what do we mean when we say precision medicine?  Can we be precise about it? From the National Cancer Institute: ‘A form of medicine that uses information about a person’s genes, proteins, and environment to prevent, diagnose, and treat disease. In cancer, precision medicine uses specific information about a person’s tumor to help diagnose, plan treatment, find out how well treatment is working, or make a prognosis. Examples of precision medicine include using targeted therapies to treat specific types of cancer cells, such as HER2-positive breast cancer cells, or using tumor marker testing to help diagnose cancer. Also called personalized medicine.’ It is probably fair to say that precision medicine is mostly being applied in the area of oncology so this is particularly apt.  Trastuzumab (Herceptin) is a great example of a drug that is used to treat only certain people – only those that are Her2+ for the Her2/neu oncogene - overexpression of which can lead to breast cancer.

The spectacular part of precision medicine that particularly rouses interest and excitement for me is that it offers a medical approach to healthcare that treats the individual as an individual. The definition of what treatment is most relevant would be determined by diagnostic tests and of particular interest the unique genome of the patient. There has also been work looking at other ‘OMEs’ beyond the genome; for example, the proteome. So ‘OMICS’ approaches, such as genomics, proteomics and metabolomics have been used, with genomics in the lead, to help identify or classify (“stratify” is a term often used) patients into groups that are predicted to respond or not respond to a particular treatment for a particular illness, such as a type of cancer.  You could sum it up as ‘the right dose of the right drug for the right patient at the right time.’ That short and pithy text comes from a presentation on the Precision Medicine Catapult website.

Dr. Collins, Director of the NIH, recently described Precision Medicine beautifully in an interview with CBS.

Let’s take a look at an example of precision medicine for cancer treatment that is underway right now: the NCI MATCH

One clinical trial being run by the the National Cancer Institute (NCI) is the Molecular Analysis for Therapy Choice (NCI-MATCH) trial which analyses patients’ tumours  –  that haven’t responded or have stopped responding to current treatment –  to determine whether they contain genetic abnormalities that would be receptive to treatment by a drug. These abnormalities are termed ‘actionable mutations.’ A treatment is selected from a panel of potential treatments (rather than treatment with a single drug) that is most likely to work for that patient based on the discovery of which mutations are present in the individual patient’s tumour. By knowing which gene or genes are mutated, your Doctor will obtain a strong clue as to how to treat that specific tumour. Rather than saying you treat the cancer with X drug, the NCI-MATCH approach treats a cancer displaying a specific genetic abnormality with the drug most likely to be effective by looking at the molecular pathology of the tumour to determine the most likely, efficacious treatment. This is a new way of looking at cancer and its treatment. The NCI-MATCH trial started in 2015 but I am excitedly waiting to see the results. My hopes are high that this will prove an effective way of treating cancer.

Are there healthcare systems already applying precision medicine?

The short answer is yes. The Journal of Precision Medicine is holding an educational webinar on the topic in which they explain: ‘Since it launched in 2013, the Center for Personalized Diagnostics at the University of Pennsylvania Health System has sequenced more than 4,000 clinical tumor samples to help provide actionable genomic data for the treatment of a variety of cancers.’

So you see, institutes are already offering precision medicine approaches to the treatment of cancer and also offering guidance on how to help others develop their own programmes.

What about in Europe?

I visited the DKFZ (the German Cancer Research Center) in Heidelberg, Germany a little more than a year ago and learned something about their precision medicine programme, which they had announced in 2014. It was deeply interesting, even exciting! I learned about individual paediatric cancer patients who had been saved because of the DKFZ’s precision medicine approach, who would have likely not survived using the older-fashioned approaches to treatment. The children had had their genomes sequenced to identify actionable mutations to enable appropriate therapeutic drug selection.

Why do I care? Why perhaps should you care?

As you may be able to tell, I am an enthusiastic supporter of precision medicine. Many of us share the sorrow of losing a loved one to cancer. The reality is, I am going to get ill. You are going to get ill. We all are. What most of us probably look for or hope for is to be healthy to a ripe old age before we pass away with minimum pain and discomfort to ourselves and minimum distress for our loved ones. At least I hope for that. But health care costs in the industrialized world, year after year, increase. I believe that precision medicine, which is more a new way of thinking about or an approach to medicine rather than a specific scientific or medical discipline, is our best hope for effective, cost efficient treatment for us and our loved ones.

In this world of over 7 billion people it is entirely possible to lose sight of the individual and forget that the numbers and statistics reflect real lives. Medicine is entirely personal. It is life and death for individuals and it needs to be precise.

May I suggest that you keep on reading and learning about precision medicine. One day (hopefully not one day soon) it might just save your life.

Click here for a number of cutting edge proteomics lectures.

To learn more about translating research to the clinic see Clinical & Translational Research Storefront. And for some additional information on protein analysis in clinical and translational research see Protein Analysis in Clinical & Translational Research.