How to improve the quality of genetic counselling?

Abstract

Background: Genetic tests are used increasingly to improve the diagnostics and risk assessment. Th is has led to a growing need for genetic counselling, which helps patients understand genetics and genetic testing in their life situations. As genetic testing is oft en performed abroad, the need for harmonisation and quality issues of genetic testing process, including genetic counselling, on European level has been emphasized. Genetic counselling by appropriately trained professionals is indicated in many situations involving rare diseases: new diagnosis in the family, predictive or carrier testing and when considering prenatal or preimplantation diagnostics. On the other hand, comprehensive genetic counselling is usually not needed in situations related to risk profi ling of common multifactorial diseases, pharmacogenetic testing or screening programs. Discussion on how to divide the work should continue. Developing tools for evaluating the quality of genetic services is underway as part of Eurogentest activities. Conclusions: Th e need for genetic information including comprehensive genetic counselling is growing. Ample resources for genetic centres should be safeguarded and tools for evaluating the quality of genetic services should be developed. Simultaneously, all health care professionals should be appropriately trained to inform their patients about genetics and genetic testing and to refer them to comprehensive genetic counselling when indicated.