Genetics Interview #21: Dr. Patrick Willems of GENDIA

For all the talk about genetic testing, it’s easy to forget that most people in the majority of countries around the world don’t have access to even the most basic tests. GENDIA hopes to change this by improving the “accessibility, cost-effectiveness and quality of genetic diagnostics on a global scale.” Today, I have the pleasure of sharing an interview with GENDIA’s director, Dr. Patrick Willems formerly of Synergene Belgium.

1. The GENDIA network is comprised of referral labs, the GENDIA central lab, and test labs in the USA, Europe, and Australia. Given the many points at which DNA samples must change hands across long distances, why would referral labs prefer to go through GENDIA rather than find a partner lab closer to them?

The main aim of the GENDIA network is to facilitate genetic testing.

One of the main problems is the large number of genetic diseases that can be tested for by DNA technology (now more than 2.000). Since most laboratories offer less than 50 molecular tests, usually for the same diseases, the majority of genetic disorders cannot be diagnosed locally or even nationally. For these rare diseases it can be quite difficult to find a laboratory willing to do the test. Even when a laboratory is found, the turn around time and financial requirements usually are uncertain.

By offering the largest portfolio of genetic tests worldwide with more than 1.300 different genetic tests, the GENDIA network succeeded in making the majority of genetic tests available worldwide

Apart from the, GENDIA tries also to facilitate the logistics of genetic testing: the GENDIA lab in Belgium functions as central laboratory, and all samples, results, invoices and other correspondence can be sent to this lab. This makes the work of geneticists and genetic labs easier as they can forward samples for more than 1000 genetic tests to a single central lab, and receive results and invoices from the same single lab.

2. Despite having labs on three continents, Africa and Asia are conspicuously missing. Developing countries must have as great a need for genetic testing. Genetics and Health featured a Malaysian woman, Rica Lode (pseudonym), whose husband had neurofibromatosis 2. Their search for preimplantation genetic testing has proved to be extremely frustrating. How can GENDIA help people like Rica Lode who live in places experiencing a lag in modern medical technology?

It is true that we do not have test labs in Africa, but this is not relevant as anybody anywhere can send us samples for testing.

It is not necessary to have a lab there as samples can be sent directly to the GENDIA central lab in Belgium. The real problem is the cost of genetic testing

3. GENDIA offers more than 1000 genetic tests. How are these tests selected? Some of the disease genes to be tested, such as the gene for neurofibromatosis 2, have multiple rare mutations. Are GENDIA labs capable of testing for all mutations on a person-by-person basis?

One of the difficulties in genetic testing is indeed the fact that each patient might have his/her specific defect (called mutation) for many of the genetic diseases.

Such mutations are referred to as “private mutations”. These indeed are a problem in many genetic labs where only portions of genes are analysed. As GENDIA analyses the complete coding region of most genes, we detect all these private mutations.

4. What do you think of direct-to-consumer DNA Tests offered by companies like DNA Direct? Are they a legitimate alternative solution to the backlog and high cost of genetic testing for medical conditions? Are there plans for GENDIA to expand beyond servicing labs to directly servicing individuals?

Direct-to-consumer genetic testing has a few advantages, but many disadvantages.

A. One of the advantages of Direct-to-consumer genetic testing offered on websites is that such websites can facilitate access to information, in this case on genetic diseases, without any thresholds. So such websites can inform people. The disadvantage is that these people do not get to speak to a genetic counseler to the extent that precious information from the patient can be lost, or inappropriate information could be provided by the internet site

B. Providing tests on the internet without interference of a geneticist is inappropriate:

• genetic tests for monogenic diseases should always be performed under the control of a genetic counseler
• genetic tests for multifactorial disease (such as life style) are in most cases irrelevant and should not be performed at all

In conclusion, appropriate genetic counseling is always indicated in case of genetic testing

5. Genetic testing inspires both hope and fear. The autism community is especially wary of genetic testing for autism spectrum disorders. What attitudes have you encountered?

There is always hope and fear towards new technologies such as genetics and genetic testing:

A. For specific monogenic disorders such as cystic fibrosis the situation is rather clearcut and the possibility to diagnose this disease pre-and postnatally with molecular technology has been a major breakthrough.

Nevertheless, when it becomes possible to test a disease prenatally, it has to be evaluated how the society as a whole, the different cultural and religious groups, and the individual families and patients react to widespread screening: this is the cases for diseases such as CF or Down syndrome.

Some patients with Down syndrome or/and their families for instance protest against the widespread prenatal Down syndrome screening programs.

B. For multifactorial dieases such as psychiatric disease, autism and others there is fear by some that genetic testing would predict traits such as character, sexual preference, tendency to violence, etc.

However, the discovery of such genetic factors has been very slow. Furthermore, it is anticipated that the predictive power of such genetic factors will be very low as these are multifactorial traits or diseases. This means that many genetic and environmental factors contribute, so that the contribution of each of the factors is small.

Thank you, Dr. Willems! GENDIA is helping to make the genome revolution a reality for more people. International health is a consideration none of us can afford to ignore.