Family physicians' self-perceived importance of providing genetic test information to patients: a cross-sectional study from Slovenia.

BACKGROUND: Management of patients with genetic problems, including provision of genetic testing, is increasingly becoming a part of primary health care. The aim of this study was to determine the family physicians' (FPs) self-perceived importance of providing genetic test information to their patients.
MATERIAL AND METHODS: This was an observational cross-sectional postal study in the whole population of Slovenian family physicians (N=950). Its main outcome measure was the perceived importance of providing genetic test information on each of 10 items on a 5-point Likert scale.
RESULTS: There were 271 (27.1% response rate) FPs that completed the questionnaire, out of which 205 (75.6%) were women. Mean age of the sample was 45.5 ± 10.6 years. More than 90% of Slovene FPs felt that it was their professional duty to discuss genetic testing issues with their patients. They were particularly prone to discuss clinical implications of positive and negative test results, as well as giving the patients information about the risk of passing a mutation onto children.
CONCLUSIONS: Most Slovene family physicians feel responsible and willing to offer and discuss genetic testing and implications with their patients. Additional education should be provided to empower them for this task.

Background

Family physicians (FPs) are usually the first physicians that make contact with people at risk for developing various diseases [1]. They also perform preventive activities that are already based on genetics (i.e., taking family history) [2,3]. Also, people in need of a professional advice commonly turn to FPs because their level of trust to their FPs is very high [4].

Patient management from a genetic point of view is increasingly becoming a part of various parts of health care, especially of primary health care [5-7]. This highlights the great need for FPs to gain appropriate knowledge about genetic tests, their indications, and interpretation of results and about ethical issues associated with genetics in medicine. It also highlights the need for FPs to gain specific skills such as communication about early genetic tests in healthy individuals at risk and genetic test interpretation adjusted to patient needs and level of understanding [8-11]. FPs should also be able to provide objective information about pros and cons of early genetic testing to parents of children at risk.

So far, few studies have dealt with the importance of providing genetic information and information on genetic tests by FPs [12-14]. However, previous studies showed that the interest of family doctors in including genetics in everyday management of their patients and the readiness to provide the information on genetic testing to their patients are the main factors influencing the success of integration of genetics into primary health care level [13,15,16]. Therefore, the aim of this study was to determine the FPs’ self-perceived importance of providing genetic test information to their patients.

Material and Methods

This was an observational, cross-sectional, postal study conducted in Slovenian FPs. The study was approved by the Slovenian Ethics Committee (No. 40/09/12).

The study population consisted of all Slovenian FPs. According to the internal data of the Slovenian Medical Chamber, there were 950 working FPs in Slovenia at the time of the study. As the membership in this chamber is obligatory, this number represents the whole population of Slovenian FPs.

Data was collected by a postal survey sent by the Slovenian Medical Chamber in March 2013. The mailing consisted of the questionnaire (described below), the invitation letter, and a pre-stamped return envelope.

We used an internationally validated questionnaire [5,6,8,12] consisting of demographic questions and questions on the self-perceived importance of providing genetic test information. There were 10 questions on the self-perceived importance of providing genetic test information. Each question could be answered on a 5-point Likert scale (1 = not important, 5 = extremely important).

We analyzed the data by SPSS version 13.0 (SPSS for Windows, Chicago: SPSS Inc.) and performed univariate analysis.

Results

There were 271 (27.1%) FPs who completed the questionnaire, out of which 205 (75.6%) were women (Table 1). Mean age of the sample was 45.5±10.6 years, mean working period was 17.3±11.6 years, and mean time from graduation was 19.6±10.9 years.

Table 1

Demographic and professional characteristics of family physicians in a sample.

Characteristic	Number of family physicians	Percentage of family physicians
Sex
Male	66	24.4
Female	205	75.6
Education
Family medicine specialist	216	79.7
Family medicine resident	50	18.5
Specialist of other specialties	4	1.5
Without any specialization	1	0.4
Education in genetics
None	39	14.4
Genetic content during undergraduate studies	220	81.5
Genetic content in specialist training	6	2.2
Genetic content in courses	1	0.4
Genetic content in postgraduate studies	4	1.5
No. of inhabitants living in practice catchment area
Less than 5,000	49	18.1
5,000–20,000	88	32.5
20,000–100,000	63	23.2
More than 100,000	70	25.8
Frequency of contacts with patients with genetic diseases in everyday practice
Daily	79	29.9
Weekly	116	43.9
Monthly	46	17.4
Several times per year	12	4.5
Less often	11	4.2

More than 90% of Slovene FPs felt that it was their professional duty to discuss genetic testing issues with their patients. They were particularly likely to discuss clinical implications of positive and negative test results: 98.6% of FPs felt that this was important or very/extremely important). The majority of them (97.0%) also felt that it was important or very/extremely important to give the patients information about the risk of passing a mutation onto children. They were slightly less likely to discuss risk estimates for a genetic disorder without genetic testing: 92.9% felt that this was important or very/extremely important. Similarly, 90.3% felt that confidentiality issues were important or very/extremely important and 86.8% felt that it was important or very/extremely important that the patient has a right to remain in ignorance (Table 2).

Table 2

Scores of the questionnaire on self-perceived importance of providing genetic tests’ information.

Item	Mean score ± standard deviation	Not important (%)	Rather important (%)	Important (%)	Very important (%)	Extremely important (%)
Information on what sample needed and what genetic test will be performed	3.5±0.8	1.5	8.6	39.6	41.4	9.0
Clinical implications of a positive and negative result	4.1±0.8	1.1	0.4	18.7	51.9	28.0
The sensitivity and specificity of the test	3.7±0.9	1.9	6.7	29.5	48.1	13.8
Options for giving risk estimates without having genetic testing	3.5±0.8	1.5	5.6	43.1	38.2	11.6
Information on the risk of passing a mutation onto children	3.8±0.8	1.1	1.9	27.6	53.4	16.0
Psychosocial impact of test results on self and relatives	3.8±1.0	1.5	8.2	25.5	41.6	23.2
Confidentiality issues	3.8±1.0	1.1	8.6	29.1	36.2	25.0
Options and limitations of medical surveillance following tests	3.9±0.9	1.1	3.4	28.8	42.4	24.2
The patient has a right to remain in ignorance	3.5±1.0	3.0	10.3	35.4	33.5	17.9
Information about if the test is covered by the insurance or of patients will have to pay for it themselves	3.5±1.0	4.5	10.8	33.6	33.6	17.5

Discussion

In general, Slovenian FPs perceived that providing genetic test information to patients is important or very/extremely important. This highly perceived importance came as a surprise, as previous studies showed that FPs were interested in genetic medicine topics [10,15,17] but perceived genetics as a low practice priority [16]. Also, FPs identified a clear distinction between the routine use and function of family history in their clinical decision-making versus the conceptualization of genetics and genetic conditions [18]. In our study, FPs actually expressed their clear role in genetics, especially in terms of a comprehensive approach. Specifically, our study showed that FPs’ perceived importance of providing genetic test information was the highest for the items associated with practical management of their patients, such as providing information about clinical implications of positive and negative genetic test results to patients and giving information on the risk of passing a mutation onto children. Another study showed that FPs had a high level of uncertainty about genetic test results [9]. This confirms the findings of our study that FPs seemed to think a lot about the practical management of patients. FPs are known to be practically oriented and recognize the implications and the benefits of using some knowledge and tests in their everyday management of patients [13,15,19]. The high perceived importance of giving information about the risk of passing a mutation onto children points to the basic feature of family medicine – the inclusion of family features in the management of patients [20].

Lower interest was found in items concerning ethical issues (confidentiality and patient right to remain in ignorance). As ethical issues are an inevitable part of genetic testing, it seems clear that FPs need additional education on this theme.

The majority of FPs in our study received education on genetics at the undergraduate level. On the other hand, more than 74% reported having contacts with patients with genetic diseases at least weekly. Since the mean age of FPs was almost 50 years, it is obvious that they are in need of additional education in genetics.

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. Another strength of this study is the use of a previously validated questionnaire, which gives us confidence in the reliability of data. This was a cross-sectional study, thus it is impossible to detect any causal relationship between variables. The response rate in this study was as expected because a 20% response rate is usual for postal surveys [21]. Nevertheless, it can be a source of selection bias.

Conclusions

Most Slovene family physicians feel responsible for and willing to offer and discuss genetic testing and its implications with their patients. Additional education should be provided to empower them for this task.