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
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INTRODUCTION
Preventive activities are an important part of
patient management at primary health level. Taking
into account the effect of family and society when
dealing with individual patients is also one of the
core competencies of family medicine [1]. In the
era of rapid evolvement of genetic medicine, family
physicians (FPs) increasingly face the activities
and dilemmas associated with the management of
genetic aspects of disease and prevention [2].
Genetics is rarely taught at the undergraduate
and postgraduate level of medical education of non
genetic specialities [3]. It has already been shown
that FPs had low confidence in their ability to carry
out basic medical genetic tasks [4] but were aware
of their need for additional education and even expressed
their educational needs [5].
Even though family history is a crucial part of patient
management in family medicine, its association
with possible genetic background of disease development and higher disease risk is not yet fully used in
practice [6,7]. Traditionally, family history taking is
focused on the patients with symptoms or problems,
which might imply that the patient is having a higher
risk for the development of some chronic diseases, such
as diabetes, coronary disease or asthma [8]. Healthy
patients or patients’ relatives are rarely being asked
about their family history [9] Also, FPs very rarely decide
to refer patients at risk to clinical genetics [10].
Family physicians regularly face ethical dilemmas
in their everyday practice [11] and find the
management of some of them quite difficult [12].
Genetic medicine is undoubtedly associated with
many ethical dilemmas [13]. Similarly, many dilemmas
can also be encountered when performing
preventive activities such as screening for some diseases
[14]. Therefore, the field of genetics in preventive
activities performed in patients and their
healthy relatives is a very sensitive area. Combined
with the lack of knowledge of genetics [15], the FPs
may face serious difficulties and doubts, and may
feel reluctant to perform such activities even though
genetic concepts are clearly part of current FPs
practice in form of clinical decision making based
on family history [16,17]. This was also shown in
a clinical case scenario-based study with more than
60.0% of FPs who were willing to take family history
but only 16.0% willing to order a genetic test
[18]. Similarly, primary care providers seem to assess
breast cancer risk mainly by family history but
rarely discuss genetic testing with the patients [10].
In Slovenia, as in many other European countries
[3], genetic medicine is taught at the undergraduate
level. However, it is not taught as a part
of family medicine specialization curriculum [19].
The aim of this study was to find out how Slovenian
FPs would manage a hypothetical clinical case and
to explore their views about possible ethical dilemmas
associated with this clinical case.
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