New technique enables faster genetic diagnosis for hereditary diseases

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New technique enables faster genetic diagnosis for hereditary diseases

http://www.eurekalert.org/pub_releases/2008-12/vfi-nte120808.php

VIB researchers connected to the University of Antwerp have developed

a new method that enables them to track down the cause of hereditary

diseases more quickly and efficiently. By means of this technique,

genetic tests that take a long time today & #8722; such as screening for

hereditary forms of breast cancer & #8722; can be carried out much more

rapidly. This finding creates new perspectives for tests that are

currently expensive and difficult to perform.

Genetic screening today

Genetic screening is currently performed when, for example, several

persons in a family contract the same disease. A member of the family

may wonder whether it is in fact an hereditary disease, and, if so,

whether he or she is a carrier and runs the risk of getting the

disease or of transmitting it to his or her children. Following

genetic advice, screening can be performed: whereby scientists

investigate whether there is indeed a defect in the DNA of the

patients in the family (provided they cooperate in the testing) or of

the family member who is inquiring. On the basis of this screening,

medical practitioners can provide advice regarding prevention or

regarding prenatal diagnosis when the person desires to have children.

If the gene that can cause the disease is very large, or if there are

several genes that can possibly lead to the disease, diagnostic

centers must conduct a lot of labor-intensive studies. This results

in long waiting times, with the consequences that the person

inquiring remains in a state of uncertainty for a longer time, that

any preventive treatment is delayed, that a desire to have children

is postponed, or that children are born with a defective gene.

A new technology

Now, VIB researchers Dirk Goossens and his colleagues in Jurgen Del-

Favero's research group have developed a new method, with which

several pieces of DNA can be examined simultaneously, instead of one

after the other. They have succeeded in joining together two powerful

existing techniques & #8722; multiplex PCR and massive parallel sequencing

& #8722;

making it possible to screen all of a person's relevant hereditary

matter at one time. Use of this parallel technology offers an

affordable solution for molecular diagnostics of a large number of

(sometimes commonly occurring) disorders.

A much quicker diagnosis

With this new technology, the molecular diagnosis of genetic diseases

& #8722; such as breast cancer, cystic fibrosis, and hereditary deafness & #8722;

will be carried out much faster and more cost-effectively. It takes 3

to 6 months to receive a result with the techniques that are

currently in use. By comparison, the new method produces a result

within only a few weeks. Moreover, not only are these tests run much

more quickly, they are also very sensitive and provide a more

detailed result.