Connect with us

EU

#Health: Genetic testing not yet perfect - but its benefits are real

SHARE:

Published

on

We use your sign-up to provide content in ways you've consented to and to improve our understanding of you. You can unsubscribe at any time.

T lymphocyte and cancer cell, SEMIn the fast-moving world of science, especially in medicine, genetic testing is seen by many to have a high potential value, writes European Alliance for Personalised Medicine (EAPM) Executive Director Denis Horgan.

Over in the United States, President Obama began a $215 million precision medicine initiative early in 2015, defined it as an approach that accounts for “individual differences in people’s genes, environments and lifestyles”.

Genetic testing can, for example, determine whether patients have inherited mutations that pre-dispose them to cancer (it can even be undertaken in children), alongside testing that looks for mutations that act as drivers.

Understanding and interpreting these tests can at the moment, however, lead to ambiguities. Two different clinicians may interpret the information differently when, for example, determining the likelihood of breast cancer to a given patient.

However, oncologists insist that taking these tests is definitely the right thing to do - as they can identify mutations in up to 100 genes. The discovery of any mutations that increase the risk of cancer is clearly hugely valuable information.

Yet it is true that the idea of genetic testing and the possible future benefits has not received a 100% ‘thumbs up’ from everyone, with some experts bemoaning the fact that there is a lack of immediate results on a wide scale.

Some have even suggested that this means there is no hope of real progress.

Advertisement

The Brussels-based European Alliance for Personalised Medicine (EAPM) certainly does not hold to that pessimistic view.

Genetic testing holds much promise. But what we call ‘personalised medicine’ over here in Europe does not only deal with genetics/genomics - it takes into account a number of factors in an individual patient, including biological markers, social factors and environmental exposure.

And the science of genomics and genetic testing will not solve other equity problems among Europe’s 500 million potential patients in 28 Member States. The barriers to access are many.

As Luxembourg’s Health Minister Lydia Mutsch put it in the run-up to her country’s EU Presidency Council Conclusions on personalised medicine: “The exciting field of personalised medicine is, and should be, all about the patients. It offers the opportunity for them to be seen not merely as passive recipients of care but as participants, partners and even guides in their own health care.

“Involving patients in treatment-related decision making is in line with the increasing acknowledgement of their right to autonomy and self-determination. For personalised medicine to reach its full potential, among many things it needs engaged and informed patients who are encouraged to discuss various treatment options, the possible consequences of those options, and then to arrive at an informed determination about the best action.”

The minister also pointed out that success for personalised medicine as a whole will require higher levels of health literacy among patients and the wider population.

There is also a clear need for readiness and updated skills among healthcare professionals, she said. “This will allow front-line professionals to engage more closely with patients over treatment issues and options”.

Generally speaking, there is no denying that science has led to major advances in the understanding of the role of genomics in diseases, in the discovery of biomarkers, in the development of new statistical methods and in the invention of dynamic tools for collecting real-world effectiveness and safety data.

Meanwhile, more-and-more rare diseases are being discovered and the patients who have them should have as much entitlement for new drugs and high-quality treatment as anyone else.

Development of personalised medicine therefore requires complex international clinical trials involving highly selected patient populations, the collection of human biological material and the use of large databases for bioinformatics.

Europe’s researchers would benefit from research infrastructures able to support large screening platforms to identify the target population, as well as relevant IT tools such as simulation or computer assisted decisions.

And let us not forget the difficulties many patients have in taking part in clinical trials of any size. A great deal suffer issues with transport and cost – not just cross-border but often within a member state – that’s if they even actually learn that they are eligible in the first place.

Elsewhere, the future of personalised medicines will require developments in health technology assessment that will support timely patient access.

When it comes specifically to genetic testing, the leading maker of DNA sequencing equipment Illumina has recently gone into partnership with Sanofi, AstraZeneca and Johnson & Johnson in order to build a test for more mutations in dozens of genes that will be used in clinical trials, before helping clinicians to determine which patient should get which marketed drug.

This is because some new cancer drugs only work against cells that became cancerous because of particular genetic mutations.

If these mutations are detected, clinicians will be able to choose the right drugs, often in combination, to target a particular tumour.

In a statement issued by the genetics giant, Ellen V. Sigal, chair and founder of Friends of Cancer Research, said: “The transition to patient-centered companion therapeutics marks a new era for oncology, and we are pleased to see pharmaceutical companies working with Illumina on a universal platform to bring life-saving treatments through their development pipelines.”

“This is the type of collaboration that will make real progress for patients,” she added.

EAPM and its stakeholders agree.

Share this article:

EU Reporter publishes articles from a variety of outside sources which express a wide range of viewpoints. The positions taken in these articles are not necessarily those of EU Reporter.

Trending