New paradigms in clinical geneticist practice in the era of emerging therapies: examples of two pediatric syndromes.

A rare disease is a disease that occurs in less than one patient in 2000. As a real public health issue, development of new dedicated therapeutic drugs has improved over the last 20 years. Thankfully for the patients, the number of treatments progressively available under reimbursement is increasing. But this new era highlights the need to think about new clinical care programs involving the clinical geneticist to establish rigorous follow-up of syndromic patients starting emerging therapies.

This poster aims to summarize the natural history of two different Syndromes: Achondroplasia and Bardet-Biedl Syndrome and to illustrate the challenge in the management of emerging therapies. Both syndromes are strictly different in a genetic point of view but, for both, a new treatment approved by the EMA is already available in several European countries. Until now, the impact of these treatments has been mainly documented through pharmaceutical trials. However, real clinical data are critical to further appreciate the long-term history of these patients under treatment considering a more comprehensive view of their syndromes.

Few data sets and recommendations for the clinical setting are currently available on the topic of emerging therapies in syndromic conditions. We postulate the need for a close collaboration between all the caregivers, physicians, the clinical geneticists and the expert centers in the field to optimize patient care. A clinical setting dedicated to emerging therapies seems to be highly important to collect data for long term follow-up. In this way, the role of the clinical geneticists is of major importance regarding their experience in the field of the natural history of syndromes to appreciate the broad impact of these new emerging therapies.