The Centre for Genetics and Rare Diseases of the East Hospital investigates rare diseases in around 500 patients a year, expands the range of genetic tests

Rare Disease Day is celebrated all over the world every year in February, and this year on 29 February, doctors from the Centre for Genetics and Rare Diseases at Riga East University Hospital (East Hospital), together with other professionals from the field, will share their experience and draw the attention of the general public to the possibilities of rare disease patients to diagnose and treat rare diseases. So far, the number of patients consulted with rare diseases is approximately 500 a year. This number will increase in the future as the centre has been expanding the range of its genetic tests, oncogenetic counselling and detection of hereditary cancer patients.

There are many patients with rare diseases, even though the name implies that the disease is rare. One of the largest groups that make up these rare diseases are genetic diseases – diseases that have already formed before birth, when significant genetic changes take place in mother and father’s germ cells and the baby can unfortunately be born with a genetic modification.

Assoc. prof. Baiba Lāce, head of the Centre for Genetics and Rare Diseases: “Genetic diseases are the embodiment of a force of nature, they will always manifest themselves, they will always run their course, so it is of huge importance to detect them early so that we can offer treatment, monitoring or reduced suffering whenever possible.”

Patients are referred to the Centre for Genetics and Rare Diseases mostly by physicians of the East Hospital, as they treat a large number of patients with complex diseases and health issues in their daily work. The experience of the physicians, their continuing medical education and the scientific studies conducted at the university hospital suggest that the patient might have this rare condition. For instance, physician may notice a patient with an unusually severe course of a disease, or a family member’s medical history may contain some strange coinciding information, or there may be a combination of symptoms from different diseases – all of which suggest a rare disease. In such cases, the patient is referred to the Centre for Genetics and Rare Diseases for genetic examinations, analyses, and tests.

Assoc. prof. B. Lāce: “So far, the number of patients consulted with rare diseases is approximately 500 a year. This number will increase in the future as we have been expanding the range of its genetic tests, oncogenetic counselling and detection of hereditary cancer patients. This is especially true for colorectal cancer. At the moment, there are only two patients with hereditary colorectal cancer in the database that registers patients with inherited genetic diseases. According to the studies and their conclusions, there should be one patient per 300 people in the population. We are aware that people at substantial risk of endometrial and colorectal cancer have not yet been identified or brought to the attention of our physicians. We are currently developing programmes at the Centre for Genetics and Rare Diseases of the East Hospital, which will definitely enable us to identify patients with rare diseases more quickly.”

The results of the tests that patients receive after these genetic counselling sessions fall into three broad groups:

• No genetic changes are found, or they are not detected. It is a joyful day for the patient and a good day for the doctors. No genetic abnormalities;
• A genetic test report is received that indicates a genetic change, but the significance of the change is not clear to researchers in Latvia or abroad. Genetic changes are identified that have not been recorded in any database. Unfortunately, in this case we inform the patient that for the moment the doctors have no information, and we cannot help effectively. Although it is non-informative consultation, it is always documented and will be used for scientific purposes in international circulation;
• Finally, the patient is confirmed to have a genetic condition and a diagnosis is established. Doctors and patients are at a crossroads again. What to do with this information? If there are treatment options, this is good news for the patient. Unfortunately, there are few treatment options for genetic diseases, and only for rare diagnoses. Gene therapy, when a damaged gene is replaced by a new gene. Genetic manipulations when different therapies are sought to change the way genes work. They are also available to patients in Latvia, but at the same time they are extremely expensive, which is why there are pleas for help in the public sphere to donate so that patients can pay for genetic treatment. The other option: no treatment to cure it completely, but monitoring and surgical manipulations. And the so-called symptomatic treatment, which is also not sad news. And there is a third situation where it is impossible to do anything. “We have no resources and no possibilities to change the course of a genetic disease. But even in these cases we can offer the patient a psychologist, we can do genetic tests for family members – to check if any of the family members also suffer from this rare disease. For families – for young couples, we can offer to check whether the baby will have the respective genetic condition during the next pregnancy. Sometimes it can be checked even before pregnancy to avoid passing on this serious disease to the next generation – this is called pre-implantation diagnosis,” explains prof. B. Lāce.

To summarise and share information on rare diseases, the European Rare Diseases Networks have been set up across the European Union, bringing together leading medical experts from different specialities in Latvia and elsewhere in Europe to share research data, experience, and knowledge. This builds up experience of rare disease patients in each country, which can then be used to identify and treat future patients.

Latvia is one of their active members. For example, in 2019, due to a suggestion of Latvian experts, the Baltic School of Neuromuscular Diseases was established in the Baltic States, which promotes improvement of care, diagnosis and treatment of rare neuromuscular diseases in patients in the Baltic States in close cooperation with ERN EURO-NMD (European Reference Network for NeuroMuscular Diseases). The participation and cooperation of Latvian experts in the European Rare Diseases Networks is one of the important achievements that improve the diagnosis, treatment, and further research in this group of diseases for patients with rare diseases.

About the East Hospital

Riga East University Hospital is the largest and most strategically important multi-profile hospital in the country. The hospital consists of five hospitals: Gaiļezers, Oncology Centre of Latvia, Biķernieki, Centre for Tuberculosis and Lung Diseases and Infectology Centre of Latvia with centres and clinics of different profiles. The hospital provides highly specialised inpatient and secondary outpatient healthcare, providing multidisciplinary tertiary-level treatment and care in line with modern technologies and medical knowledge. The hospital provides treatment for about 80% of all cancer patients in Latvia. The hospital provides a practical training base for both Latvian and foreign students and provides continued professional development and knowledge transfer for health professionals in our country and abroad. The hospital conducts scientific research and develops innovative methods for treating patients. The hospital is the third largest employer in the country, with around 5,000 employees.