When to refer for neurogenetic assessment

Over the past two decades the remarkable development of molecular genetics has led to the identification of an increasing number of disease-associated genes in the field of neurology. The application of genetics is now an essential part of the diagnostic processes in paediatric and adult neurology. As diagnosis, follow-up and genetic counselling should be offered to all patients and their families, the need for a multidisciplinary approach to optimise these services has become essential. A multidisciplinary neurogenetic clinic, composed of different specialists, offers, in addition to comprehensive neurological investigations, proper management in genetic diagnosis, genetic counselling, risks' discussion, family screening, prenatal and preimplantation diagnosis and presymptomatic testing. Genetic analysis to confirm the diagnosis can be routinely available for many diseases but genetic testing should always be preceded by careful counselling, especially for prenatal and presymptomatic diagnosis. Some genetic tests for rarer disorders may, however, be available only on a research basis. The patient and his or her family may therefore benefit from participating in international research networks. Nevertheless, genetic counselling should be offered even when genetic analysis is not currently available and genetic risks can sometimes be evaluated on the basis of pedigree analysis. Genetic investigations in this multidisciplinary effort have also paved the way for a better understanding of the pathophysiology of well-known disorders, for better nosology and novel treatment opportunities. Thus, patients with a proven genetic disorder and their relatives as well as patients presenting with common neurological disorders associated with unusual features such as early onset and/or similar familial history should be referred to specialised neurogenetic teams. Such teams represent a powerful way to improve research and patient management in the field of neurology.