A model system for molecular diagnostics of cystic fibrosis, which is currently a standard approach in the Polish healthcare system, has been developed at our Institute.
We were one of the first centers to introduce PCR-based genetic tests, creating, together with the Institute of Mother and Child in Warsaw, the foundations for a model system of molecular diagnostics of cystic fibrosis (CF) in the country.
An extension of this activity was the activity within the European CF Genetic Network and later European projects, including Eurogentest (www.eurogentest.org). The team led by prof. Michał Witt, MD, conducts research on the genetic basis of cystic fibrosis and has repeatedly obtained international quality certificates in the field of CF molecular diagnostics (CF EQA Scheme).
The prognosis in cystic fibrosis has changed significantly over the years: numerous scientific studies confirm the effectiveness of new treatments. Regardless of the therapeutic strategies, the basis of treatment is properly conducted molecular diagnostics based on effective genetic tests.
The highest diagnostic efficiency is ensured by the knowledge of the mutation frequency. Most of the mutations in the CFTR gene (responsible for the development of cystic fibrosis) are called private mutations, as they occur only in individual families and have no practical significance for epidemiology or screening diagnostics of cystic fibrosis.
Such strong allelic heterogeneity is of great importance in the development of a strategy for molecular diagnostics and genetic counseling: the correct assessment of the probability of carriage requires the use of tests appropriately adapted to the studied population.
Thanks to many years of cooperation with the Institute of Tuberculosis and Lung Diseases in Rabka, IHG PAS has gathered a collection of DNA samples (over 3,000) obtained from people suspected of having cystic fibrosis. Detailed analysis made it possible to precisely define the genetic profile of the Polish population in terms of the frequency and regionalization of the CFTR gene mutation. On this basis, the usefulness of the popular InnoLipa tests (17 and 19) for screening genetic examinations in the Polish population was also assessed.