FAMILY PHYSICIANS’ MANAGEMENT OF GENETIC ASPECTS OF A CARDIAC DISEASE: A SCENARIO-BASED STUDY FROM SLOVENIA
Klemenc-Ketiš Z, Peterlin B
*Corresponding Author: Assistant Professor Zalika Klemenc-Ketiš, M.D., Ph.D., Medical Faculty Maribor, Taborska 8, 2000 Maribor, Slovenia. Tel.: +386-41-516-067. Fax: +386-590-30-250. E-mail: zalika.klemenc.ketis@gmail.com
page: 15

MATERIALS AND METHODS

Study Design. This observational cross-sectional postal study was conducted in Slovenia. It was approved by the Slovenian Ethics Committee (No. 40/09/12). Participants. All Slovenian FPs were invited to participate in the study. According to the internal data of the Slovenian Medical Chamber (membership is obligatory for all Slovenian physicians), there were 950 working FPs in Slovenia at the time of the study. Data Collection. We collected data by a postal survey sent in March 2013. The mail consisted of the questionnaire (described below), the invitation letter, and a pre stamped return envelope. We used the internationally validated [4,5,18,20] questionnaire that was developed as a part of the European Union (EU) project “Genetic Education, Improving Non-Health Professionals Understanding of Genetic Testing (EU 5th framework research – GenED).” First, the questionnaire was translated into the Slovenian language by two independent experts who agreed on its Slovenian version. Two independent experts then translated it back into the English language. Finally, both experts agreed on the final version of the Slovenian questionnaire. The questionnaire consisted of the demographic questions (see Table 1) and questions about previous attendance to genetic education (see Table 1), of the scenario of clinical case and the questions on how to manage it, of the questions about the use of genetic knowledge in everyday management of patients, of the questions on the educational needs of FPs and of the questions on the self-perceived importance of providing genetic tests’ information (see Tables 2 and 3). In Table 2, items 1-9 could be answered with the following options: family physician, cardiologists, genetic specialist. We dichotomized the answers into two categories: family physician/ other for the purpose of statistical analysis. In Table 3, items 10-18 could be answered with most likely, likely, unlikely and no. Again, we dichotomized the answers into two categories: yes/no, including most likely and likely to “yes” and unlikely and no to “no”. Only the data on the management of patients described in the scenario and its associations with demographic and other characteristics of FPs are reported in this article. The Scenario of a Clinical Case. Mr. Smith (aged 35) came to your surgery because his 27-yearold brother, a competitive swimmer, has just died suddenly. He collapsed in the pool and despite defibrillation was found to be dead. Although sudden death might not immediately suggest a genetic condition, Mr Smith is worried because his mother’s sister died suddenly aged 30 and he asks whether the same may happen to him, his children Melanie (12 years), and Tom (6 months) or his brother (32 years). He has been told that his brother’s postmortem demonstrated hypertrophic obstructive cardiomyopathy, which can be inherited as an autosomal dominant condition. Eighty percent of non traumatic sudden deaths in young athletes are due to inherited or congenital cardiovascular abnor-malities and hypertrophic cardiomyopathy (HCM) accounts for 40.0-50.0% of these. Genetic testing may lead to identification of patients at high risk for sudden death as early as 10 years of age. Treatment can be considered with implantable defibrillators or medication. Mr Smith has agreed to be tested and the inherited mutation has been found but he does not want to inform his brother. Data Analysis. We analyzed the data by the Statistical Package for the Social Sciences (SPSS) version 13.0 (SPSS for Windows; SPSS Inc., Chicago, IL, USA). We performed the descriptive analysis. In the bivariate analysis, we used the independent t-test and c2 test. We set the limit for statistical significance at a p value of <0.05.



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