What is holding Genomic Medicine hostage?

October 01, 18
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CERYX - Read time: 2 minutes, 45 seconds

What’s happening?

Exactly two years ago a policy statement was published, which reviewed the basic principles governing the adoption of genomic testing services[i].

The paper concluded that although the cost and time required to perform NGS was decreasing, there still existed significant economic and implementation barriers. Some of these barriers are the increasing healthcare costs as well as a “local approach to coverage and reimbursement assessment”, that hamper coverage of genomic testing.

The authors lay out the essential factors for a successful implementation of genomic testing: (1) universal access to genomic testing for all, (2) regulation to ensure safety and quality, (3) clinical utility and clinician and patient education, and (4) political will.


What do we make of it?

In our opinion the paper lays out a thorough action plan that would effectively integrate genomic testing and substantially change the healthcare model.  While the paper had a particular focus on the EU, many of the key points demonstrated clinical utility, patient and physician engagement and education, affordability apply to all developed countries. However, we are not holding our breath waiting for the political will to expediently push forward the necessary reforms.

Given the rapid knowledge advances and the desire to quickly provide services to patients led by industry, in the short term most of the initiatives in this field will be led by industry. Companies will need to fully comply and collaborate with regulators and payers to move towards universal access to genomic medicine.   


Why do we find it interesting?

For the industry

We think that industry should take note of some of the recommendations that the paper lays out. In particular, we take note of the fact that closer collaboration between lab professionals and clinicians is essential for the adoption of genomic testing. For example, the authors state that “A survey of US clinicians revealed that one reason for not using pharmacogenomics is a lack of knowledge as to what tests are available, how to procure them, when to use them, how to interpret the results and how to apply them in the context of an individual patient. Similar results have also been forthcoming from European countries.”. They continue to say that “Increased collaboration [between clinicians and lab professionals] leads to an exchange of knowledge, lowers the threshold to ask for advice and generates awareness about the available testing options.”

Another key point is that patients want to be empowered: “75% of European patients, particularly those of younger age, wished to play a more active role in health-care decision-making. For these patients, it is crucial to have easy access to reliable information about their own disease/condition, and treatment options in clear and nontechnical language”.


The bigger picture

The bigger point is that today much of genomic testing is prescribed on the basis of the patient’s ability to pay and location of treatment. If we really want to expand access to genomic medicine, we need to ensure that these tests are “(a) made available in a timely manner, (b) distributed according to therapeutic need, and (c) accessible irrespective of locality, age, gender or income.”



[i] Vozikis A, Cooper D, N, Mitropoulou C, Kambouris M, E, Brand A, Dolzan V, Fortina P, Innocenti F, Lee M, T, M, Leyens L, Macek Jr M, Al-Mulla F, Prainsack B, Squassina A, Taruscio D, van Schaik R, H, Vayena E, Williams M, S, Patrinos G, P: Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy. Public Health Genomics 2016;19:352-363. doi: 10.1159/000449152