A new era of diagnosis: molecular diagnosis

The molecular diagnosis is giving answers to questions that humanity never thought they could have any. Rare genetic diseases are widely known, as a result of an ADN anomaly, but we know little about their mechanism, or all the genes involved in their pathology. Defined as monogenetic diseases due to altered functions of single genes; they can affect at least one in fifty individuals in the European-derived general population.  Despite their chronic and progressive nature, long-term complications could be delayed if patients can be diagnosed in early stages. Giving a molecularly confirmed diagnosis in a short time manner for children and adults with rare genetic diseases, improves their disease management. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, the rate is lower. Many benefits of having a definitive molecular diagnosis could help to avoid further diagnostic investigations and facilitate appropriate access to health-care resources, reduce prognostic uncertainty and importantly, once it has been understood the genetic etiology and linking a RGD (Rare Genetic Disease) to a biological pathology, it would lead to a highly affective targeted therapies for some treatable RGD’s. However, the diagnostic success for those affected individuals depends largely on progress in the discovery of genes associated with, and mechanisms underlying rare diseases.

That’s why is needed continuing research to find and complete catalog of disease-related genes and variants. Working on that, was the International Rare diseases Research Consortium, established in 2011. Who brought together researches and organizations invested in rare disease research, to develop a means of achieving molecular diagnosis for all rare diseases. In addition, there are databases that classified many Mendelian diseases; such as the OMIM database that has been online and searchable since 1987. OMIM looks for biomedical literature and according to expert review, curates and classified new information on genes and genetic phenotypes into two categories: separate gene and phenotype entries.

All these tools are facilitating the diagnosis and differentiation more specifically of different diseases. Therefore, the pharmaceuticals are focusing on treatments for a specific pathway. However, there is the risk that some of those treatments, lead to some negative effects on patients, mainly known as Adverse Events. As a physician or any other person related to health services, you need to know what to do, what steps need to be followed, and who you need to contact to, in case your center has an Adverse Event.

Here in ALTHIAN we run several protocols, which the treatments consist on the most recent immunotherapies. Despite the number of benefits associated with them, we aware that there are risks, and you need to be completely ready in case there is any. We know what to do because we have plenty experience on that. Contact us and we will be more than happy to run your next clinical trial.