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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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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