CANCER GENETIC COUNSELING IN EUROPE. PART II: CENTRAL AND EASTERN EUROPEAN COUNTRIES
2018
Hereditary Breast and /or Ovarian Cancer (HBOC) is the leading cancer among women worldwide. Since the discovery of the BRCA mutation in the ´90s, several healthcare programs have been established in Western European countries. These programs provide nationwide access to individualized care for families at high risk for HBOC. The genetic counseling starts with mutations screening programs with a guideline for further management of the high-risk group for breast cancer. Unlike Western European in the case of Central and East European countries, genetic testing for mutations in BRCA1 and BRCA2 genes is limited due to the high costs not covered by the insurance funds. As an exception between Eastern European countries in the Czech Republic genetic counseling and testing for hereditary breast and/or ovarian cancer is available to all women who are at risk of developing an early onset disease. Because of limited resources the rest of Eastern European countries try to identify some specific solutions for overcome this problem. One solution implemented with success in Poland is to identify founder recurrent mutations in order to offer testing for these recurring mutations to a large population. The high frequency of 3 founder mutations in Polish women supports the implementation of a national program that provides genetic counseling and testing with significantly reduced costs. The same panel of BRCA1 founder mutations like for Poland, seems to be found in countries from Baltic sea region so the recommendation for national screening for these mutations in HBOC women exist since 2003. The other solution is to offer sequencing of the entire coding region of the gene, which is more precise and covers all mutations, to a highly selected and less numerous populations. For instance, in Romania, free genetic BRCA1 and BRCA2 genes testing and counseling is available only in some particular programs conducted in few Medical Centers, but Slovenia implemented a national program for genetic testing and counseling but restricted to EOC patients that were diagnosed with early onset high grade-serous EOC.
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