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Marja Hietala, Elina Rantanen and Helena Kääriäinen
Dept of Medical Biochemistry and Genetics, University of Turku, Finland and National Institute of Health and Welfare, Finland
The EuroGentest Network of excellence aims at improving thhte quality of genetic testing including the quality of genetic counselling services associated with it. For this purpose, information on the practices of genetic counselling in Europe has been collected to help develop guidelines or recommendations for genetic counselling as well as tools for quality assessment in connection with different testing situations.
The aim of the survey presented here was to collect and analyse information on how genetic counselling is performed in reality in different parts of Europe. In particular, we wished to obtain an insight into the extent and quality of pre-test genetic counselling and informing of patients. This will help us in creating tools for the quality assessment of genetic counselling.
In the survey, we approached health care professionals at the moment when they received a DNA test result. We asked questions about the information/counselling related to that specific case. In addition, more general questions related to genetic counselling were asked.
A random selection of laboratories performing genetic testing in different European countries (Table 1) were asked, when sending out genetic test reports, to add to it an envelope containing a cover letter, the questionnaire and a pre-paid return envelope. Our aim was to receive replies covering all testing categories: diagnostic, predictive, prenatal and carrier testing. As we expected the response rate not to be very high, we sent more questionnaires relating to diagnostic tests. To most laboratories, a total of 50 questionnaires were sent: 20 related to diagnostic tests and 10 to the other types of tests. To the smaller laboratories (in Estonia and Serbia), a total of 30 questionnaires were sent. Forty questionnaires were sent to Italy, where the laboratory did not offer predictive genetic testing. The laboratories were also asked to check that not more than one questionnaire would be sent to each professional. The questionnaires themselves were the same for each type of test but the envelopes were marked with the test type to make it easier for the laboratories. The questionnaires were marked with the code of the laboratory to facilitate following of the response rates.
As we were not in the possession of the names of any of the recipients or their patients we could not send any reminders.
| Denmark | Department of Clinical Genetics, Rigshospitalet, Copenhagen |
| Estonia | Molecular Diagnostic Centre, Tartu University Clinics, Tartu |
| Finland | HUSLAB Laboratory of Molecular Genetics, Helsinki DNA Diagnostic Laboratory, University of Turku, Turku |
| Italy | Laboratory of Medical Genetics, Fondazione IRCCS, Milano |
| Netherlands | Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden |
| Portugal | CGPP - Center for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, University of Porto |
| Serbia | Laboratory of Molecular Biology, IMGGE, Belgrade |
| United Kingdom | Molecular Genetics Laboratory, St Mary's Hospital, Manchester |
We received a total of 100 responses: 19 from Finland, 18 from the Netherlands, 17 from Denmark, 16 from Serbia, 11 from the UK, 10 from Portugal, six from Estonia, and three from Italy. Genetic testing was ordered for several different disorders, the main group being neurological or neuromuscular disorders (39%). The most common (13%) single disorder was cystic fibrosis (diagnostic or carrier testing). The genetic test was reported to have been diagnostic in 49%, a carrier test in 17%, predictive or presymptomatic in16%, and prenatal in 15% of the cases. The age of the patients ranged from a newborn to 87 years, with a mean of 36.0 years. The test result was reported as positive in 40%, negative in 53%, and ambiguous/other in 4% (i.e. uninformative, and in prenatal tests also carrier). In three of the responses the result was not given.
Of the responses, six could be included only in the analysis of general questions. Three of these respondents had not focused on one patient, and three others concerned a pharmacogenetic test or a test for somatic mutations.
We were particularly interested in the information and counselling given in the diagnostic test group. In this group, the health care professionals ordering tests are often from the different fields of medicine, not directly involved with genetics. Demands concerning the information, especially in pre-test situations, are also different compared to for example predictive testing. Thus, in the further analysis we mainly concentrate on the responses from the diagnostic test group from which we received 47 completed questionnaires. In this group 21 (45%) of the respondents were male and 26 (55%) female. Forty-four (94 %) of the respondents were physicians, and three were genetic counsellors. Of the physicians, 15 were neurologists (adult and paediatric neurology combined), eight paediatricians, nine clinical geneticists (two of whom also had other specialities: paediatrics and neurology), four specialists in different fields of internal medicine, and one each of the following: ophthalmology, geriatrics and gynaecology. Five of the physicians did not give any information on their speciality or training for it (Table 2).
| Speciality (or training for it) | Diagnostic tests (n=47) | Other tests(n=53) 1 |
| Clinical genetics | 9 | 24 |
| Genetic counsellor | 3 | 6 |
| Internal medicine | 4 | 10 |
| Paediatrics | 8 | 2 |
| Neurology | 15 | 1 |
| Other 2 | 3 | 5 |
| Not available 3 | 5 | 2 |
1 In addition to the carrier, prenatal and predictive tests, pharmacogenetic tests or tests for somatic mutations are also included. In three responses, the test type was not given.
2 Gynaecology/obstetrics, psychology, nurse/midwife, general practitioner, ophthalmology, geriatrics
3 The respondents did not give any information about their speciality or training for it.
Diseases tested for varied considerably according to the specialities of the respondents, but also according to the tests offered by the laboratories. Only a few diseases or disease groups were presented more than once or twice: cystic fibrosis (five tests), polyneuropathies (four), ataxias (four), and hereditary cancer (four). The ages of the tested patients ranged from a newborn to 87 years, with a mean of 36.8 and median of 40 years. The test result had been positive in 24 cases, negative in 22 cases, and in one response the result was not given.
Forty-one of the respondents (87%) reported that they had given at least some pre-test counselling / information to the patient themselves. In 10 cases, some other professional was also involved in giving the information (nurses, counsellors or senior doctors). In those cases, where the respondents had given information to the patient themselves, the estimated time spent varied from five minutes to two hours (mean 39.8 and median 30 minutes). Of the three longest counselling sessions (about two hours), two were related to hereditary cancer and one to Usher syndrome. Most of the respondents (93%) considered that they had managed to give information to the patient in a satisfactory way. Reasons for dissatisfaction reported were the lack of time, lack of training, language problems, and an inadequate knowledge of the patient's family history.
Items that were felt to be the most important in the pre-test counselling were medical facts, the mode of inheritance of the disease, the reliability of the test, and its implications for family members. Most respondents had included these in the pre-test counselling session. The possibility of treatment or prevention, if available, the probability of a positive test result, the meaning of a negative result, the psychosocial implications and the reproductive options, if appropriate, were the next important factors. Possible consequences related to insurance matters or employment and costs of testing were considered to be less important and had only rarely been included in the present counselling session.
In addition to verbal conversation, 53% of the respondents had used written material (leaflets or brochures), 17% a visual presentation or drawing, and 10% websites. Assistance of an interpreter was used by 7%. Written consent was requested by 26% and verbal consent by 64% of the respondents.
According to the respondents' assessment, 62% of the patients had understood most of the information that was given, and 31% had a good understanding in advance. Only 5% found that the patient appeared not to understand the information. A low level of education or dysphasia of the patient were mentioned as reasons for poor understanding.
Most of the respondents (74%) were intending to report the test result to the patient in person. 15% intended to report the result by mail or email, and 13% by telephone. 4% planned to refer the patient to someone else who would report the result.
54% were intending to give further information on genetics issues after the patient had received the test result, and 13% reported that someone else (a clinical geneticist or a genetic counsellor) was going to give this information to the patient. In 80% of cases, the respondents considered the information (test result) relevant for the patient's relatives. Their planned approach was mostly (80%) to ask the patient to inform the relatives. Some planned to inform the relatives themselves at the patient's request (10%) or refer the patient to another health care professional who could organise the informing (10%).
If the test result had been positive, 26% of the respondents were going to give information on support groups or lay organizations to the patient. In many cases (35%) the respondents considered this inappropriate in the given case or there were no support groups for the disease (e.g. thrombophilia, haemochromatosis). Similarly, only 17% of the respondents were going to offer psychological support after a positive test result.
About half of the respondents (46%, all test types) found that they would benefit from more information on genetic testing. The percentage was 26% among the clinical geneticists and genetic counsellors and 59% among the non-geneticists. General and basic information on genetics (and updates of this information), guidelines, the availability and accuracy of tests, and ethical issues were mentioned as types of information desired.
Ethical problems or problems of malpractice related to genetic testing were considered risks concerning testing by 53% of the respondents. When different problems with genetic testing were discussed, issues related to insurance, paternity, confidentiality, prenatal and predictive tests, testing of children, misinterpretation of the test results, psychological issues, and patient autonomy were mentioned.
As far as the differences between genetic testing and other types of medical tests were concerned, 53% of the respondents saw fundamental differences, and 33% saw some difference between these test types, whereas 8% saw no differences at all. 5% of the respondents felt unable to comment on the similarity of the tests. There was no significant difference in the opinions between the respondents from the diagnostic and other test groups. However, the clinical geneticists and genetic counsellors, when compared to the other respondents, were more often of the opinion that the differences between genetic and other medical testing were fundamental (64% vs. 45%). There was also a slight difference in these figures between female and male respondents (55% vs. 48%). The most important differences between the test types were considered to be the relevance of the test for family issues and the predictive nature of gene tests.
Laws concerning genetic counselling in the respondents' countries were known to exist by 41% of the respondents, guidelines by 41%, and other recommendations by 10%. The existence of laws, guidelines or recommendations was not known by 16% of the respondents, and 13% believed they did not exist. A majority of the respondents thought that laws or guidelines helped or could help them in their work (52%: a lot of help, 31%: some help), while 10% thought that they would not provide any help. Those who did not see guidelines or laws as helpful explained, for example, that testing situations are all different and excessively strict guidelines can lead to confusion.
The respondents were asked to estimate the importance of different factors generally considered important in counselling (Table 3). Most of these factors were also considered very important by the respondents. Though there were some differences between genetic and other professionals, significant difference was observed only in attitude on giving own opinion if requested.
Factor Mean1,
genetic professionals
n=43 Mean,
other professionals
n=57
Accuracy of the information 4.86 4.71
Confidentiality 4.79 4.66
Patient autonomy 4.67 4.63
Supportive attitude 4.58 4.53
Non-directiveness 4.21 3.94
Access to support services 4.14 4.22
Respect for cultural differences 4.12 4.18
Giving own opinion if requested 2.05 3.31 ***
1 Likert type scale, 1=not at all important, 5=very important
*** p<0.0001, t-test
Finally, we asked whether there were difficulties in filling in the questionnaire due to problems with the language or the fact that the respondent did not remember the counselling situation well enough. Only 5% considered that there were difficulties because they did not remember the situation well enough, and 13% had difficulties with the language.
The response rate in this survey was quite low: the exact response rate, however, is impossible to establish. We sent a total of 350 questionnaires to the laboratories but the exact number transmitted further to the clinicians was not reported. For some of the laboratories, we know that not all of the questionnaires were distributed since prenatal and predictive tests were so rare. Since the questionnaires were sent directly from the laboratories, we had no opportunity to send reminders to the respondents.
In the questionnaire, some of the questions were focused on a specific patient while others were asked as general questions, concerning the opinions of the respondents. This division was apparently frequently misunderstood. This interfered with interpreting some of the results. Similarly, genetic tests can take a considerable amount of time and it might have been difficult for the respondents to remember the pre-test counselling situations. However, only a minority of the respondents stated that this caused a problem in filling in the questionnaire.
Time consumed by the counselling varied considerably, even in the case of diagnostic testing. For some disorders, a positive result in a gene test may confirm a diagnosis already known to the patient, or the disorder itself is not very severe. In addition, in some cases the test is performed just for exclusion. In such cases, relatively little information may be sufficient. However, in other situations, even the diagnostic gene test may have wide consequences for the whole family, favouring extensive counselling even before the test.
Particularly those respondents who were not geneticists considered that they would benefit from more information on genetic testing. This is in line with previous studies on the knowledge of non-geneticists (e.g. Watson et al. 1999, van Langen et al. 2003). One of the objectives of the EuroGentest network is to improve access to reliable information concerning genetic testing.
Many respondents had used written or visual material in the counselling situation. This was more common among geneticists, who probably have easier access to this material. Developing of such material in different languages in the form of patient leaflets, for example, has been one task of EuroGentest Unit 6 (http://www.eurogentest.org/web/info/public/unit6/patients.xhtml). It may be helpful to the clinicians if the laboratories added to their reports suggestions on the use of these leaflets when relevant.
Knowledge of legislation or recommendations and guidelines concerning genetic testing also varied considerably within countries. According to a recent report (Rantanen et al. 2008), from the countries participating in this survey, legislation on genetic counselling exists only in Italy and Portugal. Professional guidelines exist in Denmark, Italy, Netherlands and the United Kingdom. However, general laws and guidelines on patient's rights can also be interpreted as regulations on genetic counselling. In general, there seems to be a need for more information on legislation and guidelines related to genetic testing and that it be made easily available for the clinicians.
Most of the respondents reported themselves to be rather satisfied with the situation in which they had informed the patient about the test. However, nothing is known about the opinions of the patients concerned. There are several reports on patients' experiences of genetic counselling, but not many where experiences of counsellors and counsellees have been compared. In addition, most of the reports have focused on genetic counselling by experts, not on information given by other specialists in health care.
van Langen IM, Birnie E, Leschot NJ, Bonsel GJ, Wilde AA. Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era? Eur Heart J 2003;24:560-6.
Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Srqueiros J, Kääriäinen H. Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur J Hum Genet 2008;16:1208-16.
Watson EK, Shickle D, Qureshi N, Emery J, Austoker J. The 'new genetics' and primary care: GPs' views on their role and their educational needs. Fam Pract 1999;16:420-5.
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