Better diagnostics for our patients – translating next-generation sequencing into clinical use

For the most part, neurological diseases are still diagnosed based on the major presenting symptoms. The etiology is often unknown and treatment options are limited. We want to help catalyze change in this paradigm to drastically improve patient outcomes. Next-generation sequencing (NGS) is rapidly changing the field of clinical genetics - while traditional genetic testing with Sanger sequencing is an often tedious stepwise procedure, NGS offers an all-in-one solution. Instead of sequencing only selected candidate genes, the entire genome or exome (the coding parts of the genome) is sequenced in one go and available to the clinical geneticist for analysis and interpretation.

Patients will benefit from the availability of their personal genome sequence in several ways. Many who have spent years on an odyssey trying to get a definite diagnosis will finally put a name to their affliction. This will help both the patient and their family in dealing with the disease. For some patients, it may improve their treatment. The genetic data can be used to develop tailored therapeutic regimes for each individual, for example by considering genetic variants that influence the response to certain drugs. The ultimate goal, however, is to save people from becoming patients in the first place. By understanding a person’s genetic profile and the genetic risk factors for a disease, individually tailored prevention schemes can be developed.

While the diagnostic application of NGS is already a reality, personalized therapies and prevention measures are still at a very early stage.

At the Institute of Neurogenomics, we have made it our mission to make these benefits accessible to all our patients and to promote the development of personalized therapies and prevention measures.