Giving "The keys to medical genetics for all". Biomedicine Agency launches www.genetique-medicale.fr

MEDICAL GENETICS STILL LITTLE KNOWN TO THE GENERAL PUBLIC

Few people know exactly what is covered by medical genetics, a recent and complex specialty dedicated to genetic diseases, the majority of which are rare. Yet this medical specialty is already contributing to the care of many people affected in France: nearly 400,000 people benefited from a test in 2013*.

Medical genetics involves both geneticists who see patients in consultation to try to put a name to symptoms, put an end, if possible, to long-winded diagnoses and establish the most appropriate medical treatment. But they are also examinations carried out by specialized laboratories, based on an analysis of all or part of the patient's genetic heritage.

--> Particularity: As genetic diseases are often hereditary, the results of the test have consequences not only for the patient, but also for his or her family (siblings, children, cousins, ....), who may be affected by the same genetic anomaly without knowing it. Everyone can be affected, at any age.

It's important that anyone concerned by a genetic medical test, for themselves or in their family, now or in the near future, can find the information they need to fully understand all its specific features.

(*. Agence de la biomédecine 2013 Activity Report)

WWW.GENETIQUE-MEDICALE.FR: CLEAR, RELIABLE INFORMATION

"I've been prescribed a test: how does it work in practice?", "A member of my family tells me he has a genetic disease: what does that mean?", "One of us in the couple has a genetic disease: what is the risk for our future baby?".

With this new website www.genetique-medicale.fr, the Agence de la biomédecine aims to provide reliable and understandable explanations to any public looking for a first level of information. The site provides an educational presentation, enriched with videos and infographics, on :

• the definition of genetic diseases and their various modes of transmission
• the patient's pathway through diagnosis, and the various healthcare professionals involved
• the implications of genetic test results for patients and their families
• the legal framework for this medical specialty, etc.

After consulting www.genetique-medicale.fr, the differences between DNA or chromosome, dominant or autosomal recessive transmission, and the role of the geneticist or genetic counselor will no longer hold any secrets for the web surfer.

Designed in collaboration with genetics specialists, the content of www.genetique-medicale.fr is deliberately simplified to make it understandable to as many people as possible. This concern for accessibility is also reflected in the ergonomics adapted to people with disabilities (RGAA label - Référentiel général d'accessibilité pour les administrations-).

--> This site is intended to complement other information sites developed by research players such as Orphanet, or by patient associations. These sites are more disease-specific, and affected families can find in-depth information on the pathology that concerns them.

www.genetique-medicale.fr urges caution when faced with commercial genetic tests freely available on the Internet. They are all the more useless and dangerous in view of the fact that the French healthcare system provides access to high-quality care, supervised by qualified doctors, throughout the country.

WWW.GENETIQUE-MEDICALE.FR: IN PRACTICE

www.genetique-medicale.fr is divided into 3 main sections: "Medical genetics and you". "In this section, you'll find information on: "I've been advised to have a genetic screening test"; "I'm a carrier of a malformation: is there a risk of passing it on to my children? Using case studies, web users can find simple answers to the questions they have, and understand the different stages in the genetic care process and the role of each player. Genetics: the essentials". The focus here is on the essential concepts, supported by infographics, for understanding the involvement of genes in the development and transmission of diseases. This section also provides an overview of how the most common genetic diseases work. Medical genetics: organized know-how". This section explains the public bodies that oversee medical genetics, their mission and organization, and the reasons for strict legislation and regulations in this field. In addition, and with a view to teaching, the site enriches the information in a practical way with :

Computer graphics to illustrate "in figures and images" :

modes of transmission of genetic diseases, key concepts such as DNA or chromosomes, the history of genetics, the patient's journey through medical genetic testing, etc.

Video testimonials from geneticists, patients and Agency specialists.

a "dictionary" of genetics terminology, with simple, clearly-stated definitions, a knowledge review in the form of a "quiz" and a chronological presentation of genetics "news".

THE ROLE OF THE AGENCE DE LA BIOMEDECINE IN MEDICAL GENETICS

Under the French Bioethics Act of 2011, the Agence de la biomédecine is responsible not only for organ, tissue and cell procurement and transplantation, medically assisted reproduction and embryology, but also for human genetics. In the field of medical genetics, the Agence de la biomédecine has a number of missions: Authorization and training of practitioners: The Agence de la biomédecine approves practitioners for postnatal genetics activities. It also gives its opinion on the authorizations issued by the Regional Health Agencies to laboratories carrying out genetic tests. Laboratories carrying out genetic tests must be authorized, and the practitioners who analyze and sign off the results must be accredited. These provisions are designed to ensure equitable access to high-quality diagnosis throughout France. Evaluation of practices and results: Every year, the Agence de la biomédecine evaluates activity in this field by collecting and analyzing data from centers and laboratories. This enables it to draw up an annual report on genetic diagnosis activities. It also works with professionals to draw up recommendations for good practice. Participation in the organization of genetic activity in France: The Agence de la biomédecine has been particularly involved in postnatal genetics, as part of the preparation of regional plans for the organization of genetic care (SROS). It has drawn up an inventory of the care on offer (genetic laboratories and tests). At their request, the Agence de la biomédecine provides training and evaluation support to the ARS. Collaboration and exchange of expertise: The Agence de la biomédecine contributes its technical expertise in genetics to external working groups such as those set up by INCa, HAS and the French Ministry of Health. The Agency is also involved in monitoring the new National Plan for Rare Diseases 2011-2014. Its expertise is used to draw up regulatory texts. Scientific watch: The Agence de la biomédecine regularly informs Parliament and the Government of advances in genetics. Downloads CP Genetique medicaleDEF-pdf Download the press kit Other subjects that may interest you Medical genetics Over-the-counter genetic tests and pharmacogenetics: Which are the individual and collective challenges in Europe? Published on 02/10/07 Medical genetics Over-the-counter genetic tests and pharmacogenetics: Which are the individual and collective challenges in Europe? Published on 02/10/07