The GENDIA network
Advantages of the network
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
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 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:
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.
Referral labs: the referral labs represent the Network at
the regional level. In small countries there is one laboratory
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.
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
GENDIA network described above has several advantages over the
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
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
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
The network is based upon the principle of mutual benefit to all
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.
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
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.
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.
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,
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.
Costs of transportation of samples is for the sending party.
The referral lab charges the patient or the insurance company,
and is responsible for the collection of the money.
The GENDIA lab in Antwerp, Belgium functions as central laboratory.
All samples, results, invoices and other correspondence can be
mission of the GENDIA Network is to improve the accessibility, cost-effectiveness
and quality of genetic diagnostics on a global