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

DISCUSSION

More than 70.0% of Slovenian FPs believe that taking family history is a part of their everyday job. On the other hand, up to 70.0% of them do not believe that ordering and discussing genetic tests or their implications is part of their job. Additionally, only 50.0% of them feel competent to interpret the genetic risk, 25.0% of them would give information about genetic testing and only 6.0% would interpret the results of the genetic testing. This is the first study on FPs’ attitudes to genetic management of patients in Slovenia and also in the southeastern part of Europe. A study using the same questionnaire and also the same clinical case scenario was conducted in France, Germany, The Netherlands, Sweden and the UK, and showed that 61.0% of FPs would take a family history but only 38.0% would explain an inheritance pattern and 16.0% would order a genetic test [18]. In our study, the percentages of FPs taking a family history are higher than in the previously mentioned European studies. Also, Slovenian FPs seem to be more willing to engage in other genetic activities (i.e., explaining the inheritance pattern, ordering a genetic test) than their colleagues from some European countries, even though the percentage of them willing to do so is still low. A similar study on the FPs’ views on their role in cancer genetic services showed that 60.0% of them would take a detailed family history from the patient, almost 80.0% would decide which patients should be referred to genetics clinic and a quarter of them would counsel the patient on cancer risk [21]. It seems that FPs were willing to engage in genetic activities but clearly distinguish between the routine use and function of family history in clinical decision making and contrasting conceptualizations of genetics and genetic conditions as shown by Mathers et al. [16]. Family physicians seem to be willing to embrace genetics as a part of their work from the aspect of core competencies of family medicine (comprehensive approach) and not from an isolated clinical genetics view. Nevertheless, they expressed a very strong opinion about family history taking as their task and we have to take into account that family history is a basic genetic tool [22,23]. Each time a genetic test is undertaken by physicians or by patients themselves, its results will inevitably affect not only the life of the patients but also of their relatives. Confidentiality is one of the basic principles that have to be followed by any physician [24]. However, in some cases (i.e., a duty to warn relatives about risk of some infectious diseases or to warn public about an imminent harm) physicians are legally allowed to breach confidentiality. As far as the notification of family members of the identification of a genetic mutation by physicians is concerned, no clear answer yet exists [25]. It is an example of a conflict between the physician’s ethical obligations to respect the privacy of genetic information and the potential liabilities resulting from the physician’s failure to notify at risk relatives [26]. According to our study, FPs believe that it is the patients’ responsibility to notify their relatives at risk and they would even encourage patients to do so. A majority of them would even offer to help them to inform their relatives. Similarly, UK physicians considered informing family members about genetic risk as a family responsibility [27]. Over two-thirds of medical geneticists in a the USA study [28], believed they should bear the responsibility of warning their patients’ relatives when found to be at risk for genetic disease. However, only one quarter of those who faced the dilemma of a patient refusing to notify their at risk relatives seriously considered disclosure to those at risk relatives without the patient’s consent [28]. In our study, almost 70.0% of FPs would not respect the patients’ wishes not to inform their relatives and would inform them by themselves when first seeing them in the practice. Clearly, FPs are not clear about the correct procedure of informing relatives about genetic risk but according to other studies, this is a wider problem which has not yet been solved [29]. The results of our study highlighted some differences regarding demographic and professional characteristics. The most obvious one was age. It seems that younger FPs were more willing to include genetic tasks into their everyday practice. Also, they appeared to be more sensitive to ethical issues. A study based on the same clinical case [18] showed some differences regarding gender: male FPs seemed to be more willing to perform genetic tests. In our study, male FPs were only found to be more inclined to inform Mr. Smith’s brother about the genetic risk. Taking into account that similar associations as with age were found also regarding working years and years since graduation, the differences might be the consequence of the previous finding that the younger generation was more confident in their abilities about genetic tasks and have more genetic knowledge [4,15]. The older generation, on the other hand, usually did not want to change their steady management of patients. We also observed differences regarding education as the physicians with more genetic education and those with the family medicine specialization would be more willing to refer patients to genetic and/or cardiovascular assessment. Greater sensibility of younger and more educated FPs could be the consequence of a new program of family medicine specialization, which also introduced ethical topics to the curriculum [19]. This was also shown by previous studies in Slovenia [12,30]. These findings indicate the need for the introduction of genetic topics to family medicine specialization curriculum. This study was performed in a representative sample of Slovenian FPs and its findings can therefore be generalized to the whole population of FPs in Slovenia. The strength of this study is also the use of a previously validated questionnaire which gives us confidence in the reliability of data. This was a cross-sectional study so it is not possible to detect any causal relationship between variables. The response rate in this study was expected, as a 20.0% response rate is usual for postal surveys [12,31]. Nevertheless, it can be a source of selection bias. Also, the use of a theoretical clinical case represents simulated environment, thus in reality, physicians might have decided differently.



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