Thanks to advances in genetics, it is possible to detect a genetic abnormality in a large number of genes, to know the mode of transmission of a genetic disease when the mutation(s) in a gene have been identified and to evaluate the risk of occurrence of this disease among the members of a family.
This is done in a medical setting, during a genetic counselling session, with disease experts.

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The genetic care pathway

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The patient's care pathway begins and ends with a medical consultation.

The purpose of the consultation is to provide the patient with as much information as possible about the disease for which he or she is consulting, the implications of genetic testing, which will be explained by a geneticist or genetic counsellor, and the prevention or treatment measures that exist.
The genetic study allows the diagnosis to be confirmed.

Most often the genetic analysis is performed by taking blood samples. In some cases, another type of sample is required, such as saliva, skin cells or muscle cells.

 

The length of time required to perform a genetic examination depends on the technique used, the anomaly sought and the possible need to combine several of them in order to reach a diagnosis: some require only a few days, others several months.

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It is also possible that all the analyses performed do not allow a diagnosis to be made.
Nevertheless, genetic techniques and knowledge are developing very rapidly. It is therefore possible that a current diagnostic impasse may be answered in a few months or years.

 

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Genetic therapy

 

 

Innovative therapies, based on the knowledge of genes, are being studied and clinical trials are regularly underway or planned in certain diseases.

 

Genetics has provided medical research with new options and is changing the management of many diseases:

 

• Understanding the pathophysiological mechanism of a disease once the gene is known.

• Producing healthy cells to replace those that are sick, correcting a deleterious genetic mutation, offering a new source of organs for transplantation, new drug treatments that compensate for the deficiency in question...

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1 - There are also new therapeutic strategies in pharmacology:

 

Pharmacology is the science of medicine: it studies the effects and the fate of the drug in the body.

 

This field of pharmacology is currently undergoing major development because it would allow therapeutic treatments to be adapted according to new criteria, measured directly from physio pathological studies.

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The study of the consequences of a mutation in a gene makes it possible to know more precisely the origin of the differences and thus to better target drug therapy, which can be very advantageous in terms of comfort for the patient and the total cost of the therapy.

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2 - Cellular therapy consists of transplanting cells to repair or regenerate a damaged organ or tissue.

These cells, which come from the patient or a donor, are cultivated to be multiplied or purified. When they come from the patient, they are modified in order to be "corrected" by transfer of a non-diseased gene or by in situ correction of the gene.

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3 - Gene therapies are expanding to treat genetic diseases. They aim to insert, in the patient's cells, a normal version of a gene that does not work and is the cause of the disease.

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The functional gene then allows the patient to produce again the protein whose deficiency was the source of the disease.

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Medical research activities of the Groupement des Hôpitaux de l'Institut Catholique de Lille
(GHICL) and the Faculty of Medicine and Maieutics (FMM) of the Institute and the Catholic
University of Lille.