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Rare diseases (orphan diseases) are health disorders that affect less than 1 in 2,000 people. Although the frequency of each individual disease seems to be quite low, the total of these diseases is 6-8%.
The Center's Team of Medical Genetics at the Santaros Clinic
The huge number of hereditary diseases and their scarcity make diagnosis, treatment and early and effective care of patients more difficult.
"To discover the diagnosis of a disease, doctors and patients often take a long and difficult path between the first encounter and the results of the study, which explains the development of disorders of the Whether the disease is managed is determined not only by the fact that collaboration between doctor and patient, the expertise of specialists and modern technologies are the most important factors in the diagnosis and treatment of patients. Diseases A rare condition of a patient when examined by a patient often invites other family members (although healthy) to know the health of their loved ones and the results their research helps to clarify the diagnosis.We know the cause of the inherited disease, we can predict the course of the patient's disease, prognosis, risk to the family and, if possible, treatment, "says the profuse a professor at the Medical Genetics Center at Santaros Clinic. Algirdas Utkus.
If a doctor suspects a specific inherited condition caused by changes in a gene, genetic testing is faster and the disease is soon confirmed or denied. More complicated if the suspected disease is caused by one or more dozen genetic variants. In this case, advanced technology is used and the largest number of genes is studied. However, it is not always possible for a doctor to accurately diagnose patient screening and database badysis. In this case, even more detailed research is needed, such as the complete sequence of exams, which allows us to study all currently known genes.
This study is particularly important in patients with suspected hereditary disease, with unclear diagnosis or failure to identify the cause of the disease in other studies, which in many cases do not belong to it. By examining all genes encoding known proteins, a previously failed diagnosis was detected in about one-third of patients. Around the world, exams began to apply from 2011, and now such studies are being conducted in our country. VUL Santaros Clinics is the first and only health facility in Lithuania to perform a clinical study of the entire human exome sequencer for the diagnosis of hereditary diseases.
The consensus of the physician's geneticists and other personal health professionals is attributed to the study of the complete sequencing of human exomes. If the patient is insured with compulsory health insurance, the costs of the investigation are borne by the State Patient Fund.
"We hope that the study of the entire human exome sequencer initiated by the Santara clinics will help more patients to know the cause of their inherited disease, to receive recommendations for surveillance, and more specifically to predict their family members.In the future, this knowledge can be adapted to the rapidly changing nature of various hereditary diseases, "says Prof. Algirdas Utkus – L & # 39; The use of advanced technologies to improve human health is the goal of the Medical Genetics Center of VUL Santaros Clinics.We can offer patients the most comprehensive diagnostic genetic tests currently available, and provide the highest level of medical services for people with hereditary diseases. "
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