Genetics and Personalised Medicine Clinic opened at the University of Tartu Hospital

The new Genetics and Personalised Medicine Clinic was opened at the University of Tartu Hospital, focusing on the diagnosis and treatment of hereditary diseases, the clinical application of modern genetic diagnostics and the prevention and early detection of hereditary diseases. The clinic is managed by Dr Sander Pajusalu.

The Genetics and Personalised Medicine Clinic is part of the 6th clinical area of the clinic. According to the head of the field, Professor Margus Punab, the establishment of the new structural unit was prompted by the explosive development of medical genetics, which in turn creates excellent opportunities for the growth of both the specialty of medical genetics and personalised medicine on a broader scale. “The use of genetic data in clinical medicine is a priority,” said Professor Punab. “The aim of the newly established clinic is to provide genetics and personalised medicine services throughout Estonia, while at the same time being in contact with the University of Tartu’s field of medical sciences, Genome Centre, Institute of Computer Science and other units.”

The Genetics and Personalised Medicine Clinic has been established on the basis of the Clinical Genetics Centre of the Joint Laboratory of the hospital, the largest unit specialising in hereditary diseases in Estonia. “The specific treatment unit had to be established because the need for genetic diagnostics has increased in many medical specialties and genetic testing is becoming a routine part of other specialties,” said Head of the Clinic Sander Pajusalu. “Clinical genetics is also moving from being a diagnostic specialty to a medical field providing active intervention and treatment.”

This is why separate departments have been set up for clinical genetics and laboratory genetics. “We’re also introducing a range of personalised medical services in a dedicated personalised medicine department,” explained Pajusalu. “For example, the Joint Laboratory has many years of experience in pharmacogenetic analyses of drug-gene variant interactions, but so far the approach has been based on traditional single gene testing. Now, however, there is a move towards a broader genetic test covering many gene variants affecting the effects of drugs at the same time. The clinic is also increasingly focusing on the identification of genetic mutations in tumour tissue, which will allow more precise cancer treatment.”

In order to ensure the transfer of research results into clinical medicine for the benefit of patients, Pajusalu finds that good cooperation with the research laboratories of the University of Tartu, including the Estonian Genome Centre, is important. “It’s extremely important that the Estonian people, who have supported major research projects with their participation, feel that they are helping to improve the Estonian health care system,” emphasised the head of the clinic. “Our clinic will continue to focus on patient reception and genetic diagnostics, which will also be innovative thanks to synergies with other research institutions.” The clinic offers medical genetics consultations to patients, to other departments within the clinic and outside the clinic.

As in health care in general, medical genetics is increasingly focusing on prevention and detecting disease as early as possible. “Many genetic diseases are already treatable in various ways, but early and accurate diagnosis is necessary for good treatment outcomes,” said Pajusalu. “In addition to the metabolic diseases screened in newborns so far, the Genetics and Personalised Medicine Clinic will also launch a pilot study of screening newborns for spinal muscular atrophy (SMA) this year. This is based on the decision of the Estonian Health Insurance Fund to finance SMA treatment, which ensures that patients with early diagnosis will not be left untreated and will potentially achieve better treatment outcomes.”

He also highlighted the difference between decades – while the last decade saw an explosion in medical genetics in diagnostics, it’s now therapy that’s on the fast track. “Gene therapy is definitely a new direction, and some Estonian patients have already received it,” said Pajusalu. There are already treatments for more than a couple of hundred inherited genetic diseases.” The Genetics and Personalised Medicine Clinic also works closely with the hospital’s Centre of Excellence for Rare Diseases, which, under the leadership of Katrin Õunap, Professor of Clinical Genetics at the University of Tartu, focuses on the diagnosis, monitoring and treatment of rare diseases, and aims to help patients with rare diseases and their family members find the best way to cope with their health problems.

The specialty of medical genetics has existed at the University of Tartu Hospital since 1990. The Genetics and Personalised Medicine Clinic is the only medical genetics centre in Estonia, which includes both the reception of patients and laboratories for cytogenetics, molecular diagnostics and metabolic diseases. The clinic has more than 70 employees and patents are seen by 13 specialists, including 11 medical geneticists. Appointments are held in Tartu and Tallinn, and a referral is required for making an appointment. Patients and their families can also contact the Centre of Excellence for Rare Diseases directly for further referrals. Physicians of all specialties can order genetic tests for their patients from the clinic’s Laboratory Genetics Department.