University degree in genetic diseases – a multidisciplinary approach – An interview with A. Herson and M. Frischmann

Ariane Herson and Martine Frischmann are the coordinators of the university degree in genetic diseases – a multidisciplinary approach, led by Professors Alexandra Durr and Marcela Gargiulo. This training course brings together participants from both the hospital sector and medico-social and associative sectors*. The aim of this course is to transmit knowledge about genetics and its recent advances in the field of research and clinical practice. It also aims to enrich practices by reflecting on the questions raised while supporting people with genetic diseases and their families – whether these are genetic, psychological, social, legal, ethical, philosophical or religious questions. Given the recent developments in genetics, putting into perspective the contributions from the different clinical and research fields requires a multidisciplinary approach.
The 3rd edition of the degree will begin next January.

 

Why does this course have an emphasis on a multidisciplinary approach?
AH – I think that this corresponds to the very specific practice of genetics. In hospitals, the practice is interdisciplinary, since many specialties are practiced there, and if ethicists, sociologists or lawyers intervene punctually during the degree course, it is because the subject raises questions that concern the society as a whole, and we need to enrich our views and those of our students. No single discipline can answer the complexity of the medical, psychological, legal and ethical issues that genetic diseases raise.

MF – Indeed, the individual and collective viewpoints are to be taken into account: genetic diseases do not only concern the person who consults but also the family. And it is important to confront the moral and social standards with the mindsets of the different members of the family involved. Especially when it comes to making decisions such as the use of preimplantation genetic diagnosis (PGD), prenatal diagnosis (PND) or voluntary termination of pregnancy (VTP).

AH – Another challenge concerns the evolution of technologies in genetics, including the increasingly widespread access to tests on the internet. Moreover, the prescription of exome analysis, which is frequently used in the search for precision diagnosis, also raises many ethical questions.

MF – Among these questions, is that concerning unsolicited secondary data: during exome analysis the probability of identifying variants that have nothing to do with the disease being studied is high. The interpretation of these variants may be uncertain. How and when does one address this question with those being tested?

Another aspect of this multidisciplinary approach is that the degree also addresses the question of the religious influence in the experience and accompaniment of diseases.
MF – Indeed, the person consulting should be considered in his/her entirety: history, the culture in which he/she grew up, values, the person’s religious views are part of this globality and will play a major role in his/her decision-making. This is the case, for example, with the risk of transmitting a genetic disease to a future child.

AH – The goal is to allow highly specialised professionals to keep a global vision of the person in mind to accompany him/her.

Two different training courses are provided within the framework of the 2019 university degree
AH – There is a novelty this year due to the obligation of continuing education that doctors and nurses now have, whether they work in hospitals or in private practice. Two days** will be dedicated to differentiated modules in which professionals can participate. We will therefore have two types of audience this year: registered participants for the entire degree (about fifteen) and doctors and nurses enrolled only in one or both modules (up to 48) .

“Intervision seminars” will be held six times during the course. What do they consist of?
MF – Intervision seminars are intended to question and enrich the practice of the participants. These are moments reserved for exchanges between trainees about clinical situations that they will present in the presence of the educational team; very fruitful moments during which people from different professional backgrounds and those concerned by a genetic disease express their views.

At the end of the course, why do you organise a round table with the people concerned?
AH – This is unique to this degree course. Three people affected by genetic diseases testify: a person suffering from a neuromuscular disease, the father of a sick child, and the wife of a man suffering from a neurodegenerative disease. They share their thoughts, their opinions, their history. The idea is to illustrate the family dimension and to emphasise that knowledge is not only in the hands of professionals. This is a highlight of the training. Participants are extremely grateful to these people who come to testify.

 

*Physicians, psychologists, CRAs, counselors in genetics, healthcare referents, medical secretaries with a coordination and follow-up role, nurses, social assistants. Also, private physicians, teachers working in the disability field.

 

** In accordance with the national guidelines, two days have been defined: The first will take place on January 30, 2019 and will cover pre-symptomatic tests in neurogenetics and ethical challenges of the evolution of technologies in genetic analysis. The second day will be held on March 13, 2019 and will focus on announcing the diagnosis of a neurological disease of genetic origin.

 

All information on the University degree in genetic diseases – a multidisciplinary approach (in french)