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EuroGentest's Jean-Jacques Cassiman on Genetic Testing Harmonization and PGx

Name: Jean-Jacques Cassiman
Position: Professor of human genetics, head of the division of the Center of Human Genetics in Leuven, Belgium 1998 — present
Coordinator of EuroGentest 2005 — present
Education: MD, University of Leuven, Belgium, 1967
PhD, University of Leuven, Belgium, 1974

EuroGentest is a five-year project funded by the European Union with the goal of harmonizing several aspects of genetic testing. The effort, launched last year with €10 million ($12.8 million) in EU funding, has six primary focus areas: quality management; information databases; public health; ethics and legal aspects; new technologies; and education.
The network has the potential to affect how EU member states approach pharmacogenomics as the field becomes more accepted in the clinic. Pharmacogenomics Reporter recently spoke to Jean-Jacques Cassiman, coordinator of EuroGentest, to find out more about how the network operates and what aspects of it will impact pharmacogenomics.
What is the main goal of EuroGentest?
What we’re trying to do — the whole setup of the network — is to try to harmonize. We know that particular countries have regulations around genetic testing, but in many countries there’s nothing. So, we try to harmonize to find common grounds between different countries — those with and those without regulations — in order to provide them with a set of approaches, of methodologies, of ways to do things that can be translated into national regulations. That’s one of the problems in Europe — you have to go to the national authorities if you want regulations about this.
But there’s a general consensus in the genetics community that all these problems are not limited to a particular language or geographic border — you have the same in the [United] States, in Canada, in Europe.
Can you tell me how the network is organized?
We’re in the second year of the project, and there are a lot of things that were started in the first year.
We have six units focused on different aspects of genetics services. The most important ones are in the first unit, which looks at every aspect of quality in the laboratories — quality management, accreditation criteria, translating new technologies, writing standard operating procedures for everybody who wants to use them, making control materials, et cetera.
Unit two is creating a central database with all the laboratory services in Europe through the Orphanet, which is an existing network. We’re improving the information in there, increasing the number of services, and putting in quality labels [that denote accreditation].
Unit three focuses on the clinical aspects — they’re looking at the clinical validity and utility of the different tests available.
There is an additional network that is part of EuroGentest that looks at more common diseases, and what we can do for developing countries in order to develop those services there.
Then there is a fourth unit that looks at some of the legal aspects — they’re going through all the legislation existing in the EU 25 [countries]. They’ve created a network of people in the ministries and outside, and comparing [laws] to find out how they could be translated in the different EU countries. And on the ethical side, they’re focusing on informed consent for minors, which is a major issue [with] no overall solution.
Unit five is mainly a technology unit, where we are in contact with enterprises who are developing new technology, and we provide a platform of different centers who can help them speed up the translation of their technology into diagnostic practice. The problem in Europe is that they don’t know where to go, but now we’re giving them a structure in which they can do this, in the hope that their technology can be clinically validated as diagnostics.
In that same unit, there is a special group working on the IP issues, because there is more and more impact of patents on diagnostic technology. They’ve created an algorithm to find more easily those patents that are relevant for diagnostic labs.
Unit six is involved in education of both professionals and non-professionals. They look, for example, at the information [that] patients and families receive when they go to genetic counseling sessions. They’ve already established that the information is insufficient, not clear enough, not adapted, so they’re working with representatives of different countries on improving that information.
That, in a nutshell, is what the network is.
Which units will have an effect on how pharmacogenomic testing is conducted in the European Union?
I’d say the technology unit is very important, because it’s not clear at the present time which technology will be best fitted to do pharmacogenomics — that’s one thing. And the other unit that might be relevant is Unit 1, which is looking for positive control materials for molecular testing, and the quality of the procedures used to do the testing.
A lot of people in the network are involved with Affymetrix people — and people from all over the world — in writing a book with different chapters on how to use high-throughput chip-style methodologies for genetic testing, but also pharmacogenomics. [Especially] what kind of quality you need, what kind of controls you need — all those things.
As an effort to standardize how pharmacogenomic testing is done?
When do you think standard pharmacogenomic methods will be employed in the EU?
That’s hard to say because the technology is not stable at the present time. Of course, you have the chip technology, but it’s not clear, for example, which SNPs are relevant [and which are not]. If you look at expression chips, it’s certainly not clear what corrections have to be made to the different expressions, because it’s not clear what they mean and which are relevant.
So, I think we’re at the early stages, and I wouldn’t bet on any particular technology for pharmacogenomic testing at the present.
When do you expect the book to be finished?
That’s not decided. We’re in the stage where most of the people who will participate have been identified. For some chapters, lead people are still missing. For a number of chapters lead people have been identified. By the beginning of next year it should be ready — something like that.
Do you know how it will be distributed?
Certainly we’ll publish it. But it’s not clear whether it will be a paper or a book — there are still some possibilities.
But I guess it could definitely become a paper that can be sent to journals that will be suited to this kind of publication.
So that will be a first step toward standardizing pharmacogenomic testing.
The nice thing about this initiative is that it’s global — people from China, Japan, the States, Europe, Canada, who are involved in this.
I’m not sure whether everything that will be in it will be useable the day after [it’s published]. There are still some things that are not clear at the present time. For example, we are moving toward a more generalized technology for [sequencing] technology.
The other portion of EuroGentest that caught my eye is the education component. Is there an effort to educate people who will make use of pharmacogenomics?
Our first focus is not on pharmacogenomics, because if people don’t understand Mendelian [genetics], they certainly won’t understand the complex [relationships] in pharmacogenomics, so we’re starting to get them basic information, because that’s not good at the present time. Particularly family physicians are not well enough informed — they still think that all these Mendelian [relationships] are too rare — they never see it.
Some people even think that genetics for developing countries is not that important, although it’s clear that quite a large number of people are suffering from genetic diseases that are even preventable in these developing countries.
So, we’re making them aware that genetics has become important, even for these “rare” diseases. It should lead them to get motivated, let’s say, to understand the more complex diseases, and pharmacogenomics.

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