#EAPM: Genetics, empowerment, and doner kebabs…

Giant leaps in genetics have advanced certain key areas in medicine, (drugs and treatments, both) and have also shed light on what we might think of as anomalies, writes European Alliance for Personalised Medicine (EAPM) Executive Director Denis Horgan.

For example, the majority of us know somebody who has, or has had, cancer but the reasons are not always clear.

Take the case of a healthy eater, who exercises daily, drinks moderately and has never smoked a cigarette – why would they expect to get cancer at, say, 45-years-old, when one of their contemporaries clangs off 30 cigarettes per day, has five pints of lager each night, eats Irish breakfasts and take-away doner kebabs almost daily, treats getting in-and-out of the shower as amounting to ‘exercise’, and yet has never had a major illness in their life?

OK, we know enough to guess that the clock is definitely ticking in the second example but, in the first-case scenario it could be, and probably is, simply down to genes.

DNA tests can throw up various likelihoods in advance of them happening, these days, although not everybody wants to know that they may have more chance of getting breast or colon cancer than their neighbour and it hardly seems fair when they do.

They may also not want to share the knowledge of a future likelihood of contracting a particular chronic disease with close family, as the latter could also be affected genetically and may not wish to know about that, thanks very much.

Some of the above may sound negative, yet genetics has, as mentioned, opened new doors for patients in the form of personalised medicine. It has often changed the ‘patient journey’, with new treatments available and better communication between doctors and patients.

These days, there is more co-decision as lifestyle, work and personal preferences come into play – especially with front-line healthcare professionals who are up-to-speed with the latest developments, or know where suitable clinical trials are taking place (many do not or, if they do, it is not flagged up as an option).

Of course, the quality of treatment varies from country-to-country, depending upon resources and incidence of a particular disease, and the awareness (or not) of potential over-treatment.

For example, not too long ago, men with prostate problems may well have had surgery “to get the cancer out”. In many cases it wasn’t actually necessary, at least not at that exact time, and could have been safely monitored instead. That would have made a significant difference to the victim’s lifestyle for some time.

And some may wonder at Angelina Jolie’s decision, knowing that her genes would probably have given her breast cancer. Should she have waited? Or was her empowerment for the best? The answer is, it was the actress’s decision and, without the knowledge that we now have, she possibly would not have made it and may have died early and unnecessarily.

So, over-treatment versus higher risk? It is a difficult choice and, in the past, doctors have basically been accustomed to making the decision, which often left the patient feeling powerless, scared and resentful, on top of being ill.

Patients are, for sure, not experts on medical matters. But they are absolute experts on their own lifestyles. Some doctors still don’t get that, and it needs too change.

Then again, we have a situation where empowerment differs depending on the disease. Is someone with a rare cancer, with no clinical trial group within a thousand miles, able to be as empowered as someone with a breast tumour caught early and treatable?

What if the EU member state is not the best at treating the condition, but suitable reimbursement is not available due to different costs in different countries with better resources in the particular case?

(We have, of course, cross-border treatment rights, but anyone working in this area would have to tell you, honestly, that it is far from living up to its potential, however well intended.)

Another issue is that drugs for rare diseases are, obviously, more expensive given the smaller market and the cost of development, trials, safety checks and the time taken to get approval to go on the market.

The EU population is living longer, and is suffering much more from co-morbidities (many diseases at the same time). Resources are stretched. Yet patients are also better-informed than they have even been (although too many ‘facts’ on the internet can send self-diagnosis in entirely the wrong direction).

So, unsurprisingly, there is a debate about how much ‘power’ a non-expert patient should actually have, and there is clearly a communication gap between the healthcare professional and the patient in many cases. Patients don’t always ask the right questions, and many doctors are unforthcoming unless asked specifically.

There is also a question of how much support a patient should have at the time of diagnosis, as well as afterwards. As ever, in all health-care systems, it always seems to be about cash.

Personalised medicine aims to put the patient right at the centre of his or her own healthcare, and that means taking decisions in concert with doctors, nurses and surgeons.

This fast-moving area of medicine also advocates better training for healthcare professionals and smarter use of resources, as well as cross-border sharing of health data, better coordination and collaboration in research, and the continuous exchange of knowledge and best practices.

Personalised medicine applies to the actual diagnosis, the treatment and ongoing, often lifestyle-based post-care, which has the aim of (usually) prolonging life and (almost certainly) maximizing the quality of life.

We are not in a position (yet) to change a person’s genetic make-up to remove the possibility of a specific disease (although certain immunotherapy methods are coming to the fore which better target treatment), and there are huge disagreements about the value of population-based screening (largely because of cost and the aforementioned risks of over-treatment, as well as the dangers of radiation in some instances).

Certainly, the Brussels-based EAPM, with its broad base of stakeholders, is in favour of screening for, for example, high-risk lung cancer groups, and has argued for it at various conferences and congresses down the years

In the end, EAPM believes it is all about giving the right treatment to the right patient at the right time, as well as about empowering the patient. And, given that there are a potential 500 million of them spread across the EU’s current 28 member states, that has to be a worthy goal in itself – whether or not that patient smokes, or doesn’t smoke, or has a weekly doner kebab (or three).

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Category: A Frontpage, EU, European Alliance for Personalised Medicine, Health, Personalised medicine

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