Clinical Genetics is a transversal speciality that will offer important diagnostic support to all medical areas and will help to resolve doubts in many cases, such as knowing the risk of transmission of hereditary diseases to future parents and the possibilities of molecular diagnosis, carrying out a pre-symptomatic study of neurodegenerative diseases or personalizing the treatment of certain diseases. This new consultation will be able to indicate the specific genetic studies that will allow a definitive diagnosis to be made. To do so, it will have the collaboration of the best national laboratories in genetic studies: thanks to his extensive experience in Genetics, Dr. Jordi Rosell will indicate the reference center for each pathology and will offer the best option to study each case.
Technological advances over the last ten years have made it possible to achieve ever greater diagnostic accuracy in genetic studies. The specialities that make most use of Clinical Genetics are Pediatrics and Obstetrics, but all can benefit from this discipline
The continuous development of genetic studies is leading the advance towards personalized medicine: in fields such as oncology, neurology, psychiatry and nephrology, among others, specialists can adapt therapies when they know the specific mutation responsible for the clinical picture. In certain diseases, these options can already be offered.
At Dr. Jordi Rosell's clinic, a large number of doubts can be resolved in many cases, from couples with a history of having had a child with a certain problem, or if there is a hereditary disease in the family, to knowing the exact risk of transmission and the possibilities of molecular diagnosis.
Dr. Jordi Rosell estimates that between 15 and 20% of diagnoses in disability are made through molecular cytogenetics or arrays, which is the technique that detects small losses or gains of chromosomal material that are responsible for disability and/or congenital anomalies. In all other cases, the entire genome can be sequenced to reach a complete genetic diagnosis.
Adult patients with a metabolic problem or a history of neurodegenerative disease may also come for pre-symptomatic study. A very high percentage of progressive neurological pathology is of genetic origin and the genetic study transforms a more or less well-founded clinical suspicion into a diagnosis of certainty.
On the other hand, in the field of prenatal medicine, in addition to the classic studies, we offer the possibility of guidance in the event that preimplantation genetic diagnosis (PGD) is indicated as a measure to eliminate a hereditary disease within a family. It is absolutely gratifying to be able to guide a couple with the possibility of offspring affected by a serious illness towards the certainty of bringing healthy children into the world and to put an end to a disease that causes anguish through the generations.