Introduction

Diagnostic tests for genetic diseases can be divided into cytogenetics, molecular cytogenetics (FISH) and molecular genetics.
Whereas cytogenetic and molecular cytogenetic tests are widely available, molecular tests for many genetic diseases are not available in many countries.
Several decades of intensive research on the molecular causes of human genetic diseases have resulted in a large list of molecular tests that can be offered to diagnose genetic diseases. In many countries molecular laboratories have been established that offer these tests to patients and their families.
Unfortunately, there are huge differences with respect to accessibility, price and quality of the molecular diagnostic testing in the various countries. The spectrum of genetic diseases that can be tested varies from several hundreds in countries with a well-developed service system to only a few in most countries of the world.
One of the main problems is the relative rareness of most genetic diseases, resulting in a small number of requests per disease per laboratory. This impairs a cost-effective and reliable service.
A second problem is the large number of genetic diseases that can be tested for by DNA technology (now over 2000). 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. Furthermore, it is difficult to check whether minimal quality requirements are met as quality trials are not offered for this category of diseases and there are no platforms where referring clinicians can discuss their positive and negative experiences.

In summary, the accessibility, cost-effectiveness and quality of diagnostic tests for rare genetic disorders could be substantially improved, which is the main goal of the GENDIA Network.



The GENDIA network

The Network is called GENDIA (for GENetic DIAgnostics), and currently consists of more than 50 laboratories. GENDIA is supported by AML, a diagnostic medical lab based in Antwerp, Belgium.





The participating laboratories can be classified into three groups:

1) Test labs: more than 50 expert laboratories from the USA, Europe and Australia perform the molecular tests. These ‘test labs’ are experts on the diseases they are selected to diagnose. GENDIA assists these laboratories in obtaining larger numbers of patient samples, enabling them to improve the efficiency of the genetic testing. This will improve quality of testing, and lead to a reduction of costs and prices. All the test labs issue detailed English reports on the results of the tests to GENDIA.

2) Referral labs: the referral labs represent the Network at the regional level. In small countries there is one laboratory functioning as referral lab. In large countries there are multiple referral labs. The referral labs collect material (usually blood samples), isolate DNA and decide whether they will perform the analysis themselves or forward the DNA to the test laboratories through GENDIA. The referral labs translate the report to the local language, and issue them to the local clinicians or referring party.

3) The Central Laboratory: GENDIA in Belgium functions as coordinating Central Laboratory. One of its major tasks within the network is to fulfill a ‘clearing-function’ by distributing DNA to the test laboratories. Although the test laboratories cover a large list of genetic diseases, there will always be tests that are not offered in the network. GENDIA seeks qualified laboratories able to perform these specific tests (‘ad-hoc partners’).



Advantages of the Network

The GENDIA network described above has several advantages over the current situation.

1. The accessibility to genetic tests is increased. In countries with already developed molecular diagnostics, the network facilitates testing for rare diseases not covered by local labs.
In countries with a less developed system for genetic diagnosis GENDIA provides access to many tests through the local referral labs. These labs can offer all the tests that the network is offering in their own country. GENDIA currently offers over 2000 genetic tests.
Furthermore, it is no longer necessary for referring clinicians or local labs to look for the right laboratory to perform a particular test, as all samples can be sent to the central lab of the network in Belgium.

2. The costs of the genetic tests will be reduced by implementation of more efficient handling and automation of the testing, which is only feasible when concentrating diagnostic work on an international scale increases the number of requests per test. The reduced costs will further facilitate access to genetic tests for patients in developing countries and for less well-insured individuals. Thus, a steadily increasing number of individuals will have access to a great spectrum of genetic services.

3. A third advantage of the network is the improved quality of the testing. It is very important that the results are correct and reproducible, and turn-around-times short. Furthermore, the reports must not only contain genotype information but also relevant genetic recommendations. The GENDIA test labs all have or are in the process of getting accreditation such as CLIA or ISO 17025. Additionally, ethical guidelines must apply at all times. GENDIA will monitor the quality aspects and promote improvements where possible.



Strategic issues

1. GENDIA is supported by AML, a diagnostic medical lab based in Belgium (www.aml-lab.be). Due to the large number of participating laboratories and the difficulty to obtain a public grant for this type of network, it would not have been possible to initiate the Network without this funding.
GENDIA operates internationally, but does not intend to obtain a monopoly. By no means the GENDIA network wants to interfere with existing or future national networks. To the contrary, the GENDIA network can interconnect different national networks, and complement them.
The network is based upon the principle of mutual benefit to all the participants.

2. The GENDIA Network is based on the principle of mutual benefit. In order to maintain this principle, GENDIA will be restrictive with respect to the number of tests performed by the GENDIA laboratories. It is foreseen that the GENDIA laboratory is responsible for less than 25% of the different tests.



Ethical aspects

As clinicians from different countries, cultures and medical disciplines are sending samples to the Network, there might exist a difference of opinion on the ethics of the test in some cases. It is the duty of the referral labs to deal with the ethics, as they know the local ethics much more than the test labs or GENDIA.
However, both the test labs and GENDIA are entitled to refuse tests on ethical grounds. An independent ethical advisory board consisting of a representative of the test labs (Dr Bart Janssen), a representative of the referral labs (Dr Michael Petersen), and a representative of GENDIA (Dr Patrick Willems) will decide in exceptional cases.



Financial issues

1. GENDIA pays the test labs a fixed price for each test they perform, and receives a fixed price from the referral labs. The prices are negotiated yearly, and payments are made quarterly. Ad-hoc partners bill GENDIA per test.

2. The prices GENDIA charges to the referral labs are higher than the amounts paid to the test labs, which is necessary to cover the costs for quality control, registration, shipment, etc.

3. The price GENDIA charges its referral labs approximates the price of the test labs on their local market.

4. The referral labs are free to determine the final prices on their local market.

5. Costs of transportation of samples is for the sending party.

6. The referral lab charges the patient or the insurance company, and is responsible for the collection of the money.



Practical aspects

The GENDIA lab in Antwerp, Belgium functions as central laboratory.
All samples, results, invoices and other correspondence can be sent to:

Summary

The mission of the GENDIA Network is to improve the accessibility, cost-effectiveness and quality of genetic diagnostics on a global scale.