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Clinical genetic care in diseases predisposing to sudden cardiac death
van Langen, I.M.
Publication date
2005
Link to publication
Citation for published version (APA):
van Langen, I. M. (2005). Clinical genetic care in diseases predisposing to sudden cardiac
death.
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Chapter • •
Genetic knowledge and
counselling skills of Dutch
cardiologists: sufficient for the
genomics era?
IM van Langen, E Birnie, NJ Leschot, GJ Bonsel, AAM Wilde
C H A P T E R 2
Abstract
Aims: Genetic scientific knowledge is growing rapidly but how this affects clinical practice is
unclear. We investigated the levels of knowledge, practical skills and clinical genetic practices of Dutch cardiologists.
Methods and results: A survey was designed to assess cardiologists'experience with genetic
aspects of hypertrophic cardiomyopathy, self-reported genetic knowledge, and genetic skills in general and aimed at this disease. In addition, cardiologists'opinions on five possible measures for improvement were obtained. Study population: all Dutch cardiologists (n=643). Median number of patients suffering from hypertrophic cardiomyopathy per cardiologist is five. Forty-one percent of respondents do not give information about genetics to all their patients. Cardiologists rarely initiate DNA tests for hypertrophic cardiomyopathy. Only 38% refer patients to clinical geneticists. Self-reported knowledge levels are low (average score 3.3-5.1,0-10 scale). Cardiologists with an established working relationship with a clinical geneticist report significantly higher levels of knowledge. Clinical guidelines, education and improved collaboration with clinical geneticists are preferred.
Conclusion: Dutch cardiologists' genetic knowledge and clinical genetic practice levels are
insufficient. As a result, clinical genetic care for patients with hypertrophic cardiomyopathy is poor. Improvements proposed include advancement of knowledge (education, professional guidelines) and structural measures (working relationships, multidisciplinary outpatient clinics). Collaboration of cardiologists and clinical geneticists is urgently needed to optimise cardiogenetic patient care.
Introduction
The Human Genome Project (HUGO) has increased the impact of genetics in medical science and practice [1]. In cardiology, the genetic background of autosomal dominant diseases, such as cardiomyopathies and hereditary arrhythmias (for example, the long QT and Brugada syndromes) are being unravelled [2]. Discoveries like these invariably induce new demands for genetic counselling, DNA testing and application of this knowledge for information and treatment of patients and their families.
So far, in the Netherlands, for health insurance only clinical geneticists are allowed to order genetic tests on adult genetic cardiologie disease. Hence, patients with the diseases mentioned above have to be referred to a clinical geneticist both for testing and for genetic counselling. Clinical geneticists are all employed in one of eight academic clinical genetic centres. Currently, a mutation is found in about 50% of referred hypertrophic cardiomyopathy (HCM) patients in the Netherlands.
Genetic counselling and DNA testing in HCM are important for several reasons: as in all genetic diseases, knowledge on the heritability of their disease enables patients to make informed choices regarding offspring and to alert their children and other relatives to the possibility of having the same disease. Because HCM is one of the few genetic diseases in which prophylactic and therapeutic measures are possible and effective, especially in families with a 'malignant'type of HCM (with ventricular arrhythmias and/or severe hypertrophy and/or sudden death in the index patient and relatives) cardiologie screening of relatives is important. Finding a mutation in an index patient enables, by DNA testing of family members, exact identification of risk carriers and reassurance to those not carrying the mutation. In addition, the gene in which a mutation is detected and, sometimes, the position of this mutation may give further clues about the malignancy, penetrance and age of onset of the HCM in a certain family, thereby guiding cardiologie screening and treatment.
Recently, several surveys have shown that the knowledge and clinical genetic skills of medical specialists, general practitioners and paramedical professionals are limited. Consequently DNA test results are misinterpreted and alertness to referral to clinical geneticists is lacking, at the risk of harming patients with (possible) genetic diseases [3—14], Yet it is unclear, how to meet these patients' needs if proper referral were to take place, assuming that the current containment within the clinical genetic centres is no longer a feasible option [15,16], This makes the need to educate other professionals even greater, thereby enabling them to provide some of these services themselves.
In view of the increased practical relevance of these issues in cardiology and the fact that cardiologists as a professional group have not been subject to earlier studies, we investigated:
1. The current knowledge and practical skills of Dutch cardiologists regarding genetics, genetic counselling and DNA testing in general.
2. The knowledge and skills in the treatment of HCM in particular, a prevalent genetic cardiologie disease.
C H A P T E R 2
3. Cardiologists' preferred measures to improve knowledge and skills and their application in genetic patient care.
Methods
Questionnaire
We developed a written questionnaire to assess cardiologists'experience with HCM, including its genetic aspects; their knowledge of, and skills in, genetics and genetic counselling in general and aimed at HCM in particular; and their opinions regarding a set of defined options to improve their knowledge and 'genetic care'for their (HCM) patients. Added were questions on respondents' characteristics. Additional comments on preformatted answers were encouraged.
Cardiologists'experience with HCM was expressed as the number of HCM patients under surveillance, experience with the various aspects of genetic counselling and DNA testing, existing professional relationships with, and number of, referrals to clinical geneticists, availability of guidelines regarding HCM and genetics at the practice and possible subspecialisation of members of the staff into HCM.
The level of knowledge of each individual cardiologist was evaluated by the respondent's answers to nine statements: four regarding genetics, genetic counselling and DNA tests in general (part G) and five concerning these subjects in HCM (part H). One statement was added to ascertain their knowledge on where and how to find relevant sources of information. Responses were recorded on a 0 to 10 scale (0=fully disagree, 10=fully agree).
Finally, cardiologists were asked to give their view on the desirability of five non-exclusive options to increase their role as a genetic caregiver to HCM patients: refresher courses on genetics, increased access to existing knowledge (e.g. by a website), development of clinical guidelines, improved working relationships with clinical geneticists, improved access to DNA laboratories.
The feasibility of the questionnaire was tested among 20 cardiologists attending a genetics course. Remarks were noted and adaptations were made accordingly. The questionnaire is available upon request.
Questionnaire management
In January 2000, questionnaires were mailed to all 800 members of the Netherlands Society of Cardiology (NVvC). Approximately 70% of the members are cardiologists, covering approximately 90% of all 643 Dutch cardiologists (1999). The NVvC supplied reference data on the age and gender distribution of the Dutch cardiologists. Cardiologists were informed by a cover letter on the aim of the study, invited to participate and to respond to the questionnaire anonymously. Reminders were sent twice: once as a letter to each individual cardiologist and once as a short communication published in the NVvC newsletter.
Analysis
To check for selective participation, the age distributions - a proxy for education and experience - of the responding and non-responding cardiologists were compared.
The level of genetic knowledge was described as the mean (SD) scores on all nine separate statements.The scores of the four statements on general knowledge (=G) and the scores for the five statements on HCM (=H) were averaged and dichotomised (<4 vs >4) in order to describe the association between cardiologists' characteristics and knowledge and the association between experience with HCM and genetic counselling and knowledge.
Continuous variables were tested with Student's t-test, categorical variables were tested with a chi-square test, with a P value <0.05 considered statistically significant.
Results
One hundred and ninety-seven cardiologists, including six cardiologists-in-training and eight resting cardiologists, responded to the questionnaire (response rate 33%).
Table 1 shows the characteristics of the participating cardiologists (mean age 47.2 years (SD8.9), 12% female, mean number of years of experience 12.6 years (SD 7.8)). The sample was representativein terms of age and gender. The majority of cardiologists treated HCM patients, on average less than 10 (median five, SD 8.6). Local clinical guidelines regarding HCM and genetics were not available to the majority of cardiologists.
Fig. 1 displays the current practice of genetic caregiving. Forty-one percent of cardiologists did not inform all HCM patients about the genetic aspects of their disease. The consequences of HCM for offspring were not discussed in any patient by 46%. Some respondents commented that they refer their patients to a clinical geneticist to discuss these topics. Cardiologists rarely initiated DNA tests for HCM. Only 38% of respondents occasionally referred patients to a clinical geneticist. An equal minority had a formal working relationship with a clinical geneticist.
Table 2 shows the self-reported level of knowledge and skills of cardiologists regarding genetics and genetic counselling in general (G)and in HCM (H). Only the question on'knowing where to find sources of information about the above mentioned subjects' was rated on average above 6 (0-10 scale). Statements on knowledge, score on average as low as 3.3-5.1, but variability was large. Knowledge on the use of (results of) DNA tests for HCM was scored lowest.
Table 3 shows the effect of background characteristics on G and H knowledge levels. The more experienced cardiologists (more HCM patients, longer clinical experience) reported significantly higher levels of knowledge on HCM and genetics. Cardiologists specialised into a field that is expected to give them more experience with HCM and/or genetics (paediatric cardiology, electro physiology) assigned significantly higher scores than their colleagues specialised into different fields. Affiliation as such (academic setting or not) had no significant effect on scores (years of experience being comparable).
Table 3 also shows the association between working experience with genetic counselling and DNA tests in HCM and reported knowledge. Cardiologists who informed all their patients
CHAPTER 2 T a b l e 1 Characteristics o f p a r t i c i p a t i n g cardiologists3 a n d e x p e r i e n c e w i t h H C M ( n = 1 9 7 ) Characteristic" n (%) Age (years)c 30-39 28(15%) 40-49 100(52%) 50-59 50 (26%) >60 14(7%) Gender Female 23(12%) Affiliation Academic hospital 45 (23%) General hospital 139(71%) Other* 13(7%) Subspecialty* No subspecialty 109(57%) Paediatric cardiology 7 (4%) Electrophysiology 15(8%) Vascular cardiology 18 (10%) Imaging 13(7%) Heart failure 5 (3%) Other 4 (2%)
More than one 18(10%) f HCM patients under surveillance per cardiologist5
No. of r 0 46 (24%) 1 -5 84 (44%) 6-10 42(23%) 11-20 14(7%) 30 1 d%) 100 1 (1%) Severity of HCM: % of patients (very) mildly affected per cardiologist6'
0-25% 16(11%) 26-50% 27(19%) 51-75% 29(21%) 76-100% 69(49%) Guidelines on HCM and genetics are unavailable 179 (96%)
HCM patients are treated by specialised cardiologists in the staff 28 (15%) a Including six residents.
b Missing values per question range from 0 to 5. c Numbers include five residents.
d Working outside hospitals (n=3), working but no patient care (n=2), retired (n=8). e Based on 189 working cardiologists.
f Very mildly affected: no or few restrictions in daily activities and not at large risk of sudden death without treatment.
Fig. 1 Experience with genetic counselling and testing of cardiologists who treat HCM patients (n=143). Missing values per question range from 0to5.
Which % of your patients did you inform about the hereditary nature of HCM?
51-99% 100%
In how many of your patients did " you initiate DNA-diagnostics? (n) - ^ Q
In which % of your patients did
you discuss the consequences 1-50% of HCM for children?
51-99%
In which % of your HCM patients did you advise family screening?
In how many asymptomatic family members of patients with known HCM mutations did you request DNA-diagnostics? (n)
Which % of your HCM patients did you refer to a clinical geneticist?
Do you have an established working relationship with a clinical geneticist?
100
• of cardiologists
about the genetic aspects of HCM in general did not report higher levels of knowledge, but those who usually discuss the consequences for children did, in terms of G and H scores. Cardiologists who advised family screening had higher H scores. Having a working relationship with a clinical geneticist was highly associated with increased G and H scores.
Most cardiologists report a need for refresher courses and improvement of access to existing knowledge (seeTable 4). Guidelines on HCM and genetics are generally desired. Sixty-eight percent would like to change or improve working relationships with clinical geneticists. About half would appreciate improved access to DNA laboratories. Cardiologists with HCM patients have higher scores on each question compared to those not treating HCM patients. Unlisted, but often mentioned, was the wish for expansion of the already existing regional multidisciplinary cardiogenetic outpatient clinics. Here evaluation, counselling and testing takes place, after which the patient and his family return to the referring cardiologists.
C H A P T E R 2
Table 2. Knowledge of participants on aspects of genetic counselling in general and aiming
atHCM(n=197)
Questions3 Mean"'
General knowledge (G)
My knowledge of the principles of genetics is sufficient 5.1 My knowledge on the principles of genetic diagnostics, its interpretation and the
Dutch regulations regarding this, is sufficient 3.7 I am acquainted with the methods of genetic counselling (investigating family history,
drawing of pedigree, requesting medical reports of relatives, explaining about heredity
and prenatal diagnosis) and know how to use them in practice 4.2 I am aware of the ethical principles in genetic counselling and know how to use them 4.1
Genetic knowledge regarding HCM (H)
I know enough about hereditary aspects of HCM 4.2 I am informed about the current practices and restrictions in DNA tests for HCM 3.5
I know how to use the results of these DNA tests for the benefit of prognosis, treatment
and counselling of my patients 3.3 I am able to properly inform my patients about the consequences of HCM regarding
their children 4.1 I know in which cases it is useful to initiate family investigations in HCM 4.3
Knowledge about sources of information
I know where I can find the sources (literature, people, departments) to inform me about
these subjects 7.0
a Missing values per question range from 2 to 5. B Scores on a 0-10 scale: 0=fully disagree, 10=fully agree.
' Standard deviations range from 2.1 to 2.6.
Discussion
Dutch cardiologists on average regard their knowledge and practical genetic skills as insufficient. As a result, only some of their patients receive information on the hereditary nature of HCM, the majority of cardiologists never refer patients to a clinical geneticist, and DNA tests in patients or family members are seldom initiated.
This clearly shows that attentiveness towards the clinical genetic consequences of a hereditary disease like HCM is currently lacking. The younger generation of cardiologists, despite an expected higher exposure to genetic knowledge and test information during their training, do not differ from their colleagues in this respect; the same applies to cardiologists working in a teaching setting. Even the more experienced cardiologists, who report better levels of knowledge and skills, are not very confident, with a few exceptions. Cardiologists who have a formal working relationship with clinical geneticists (only 38% in our survey) report higher levels of genetic and HCM specific knowledge [5].
Some respondents acknowledged that their genetic knowledge is limited, but still regarded that level as sufficient for the care they provide.
Table 3 Cardiologists' self-reported levels of knowledge regarding genetic counselling in
general (G) and in HCM (H) in particular, by background characteristics (n=197)
Background characteristics'1 Years of experience < 14 years 14 years Number of HCM patients <6 6 Sex Female Male Affiliation Academic hospital General hospital Subspecialty With HCMd Without HCM
Percentage of patients informed < 100%
<100%
Requested DNA tests Ever
Never
Discussed consequences for chile 0
1-99 100
Advised family screening Yes
No
ibout heredity of HCM
ren in %
Has working relationship with a clinical geneticist Yes No G-score <4b 49 (52%) 38 (44%) 65 (52%) 23 (39%) 8 (36%) 82 (49%) 19(42%) 67 (49%) 9 (26%) 83 (52%) 35 (43%) 31 (53%) 9 (38%) 57 (49%) 37 (59%) 17 (50%) 11 (27%) 40 (43%) 25 (53%) 26 (36%) 62 (56%) P value 0.32 0.11 0.28 0.46 0.006 0.23 0.32 0.006 0.28 0.007 H-score <4C 61 (64%) 38 (44%) 75 (59%) 24(41%) 10(45%) 93 (55%) 25 (56%) 73 (53%) 14(44%) 91 (57%) 39 (48%) 33 (58%) 9 (38%) 64 (55%) 43 (67%) 16(47%) 12(30%) 39 (42%) 33 (70%) 29 (40%) 70 (63%) P value 0.007 0.025 0.38 0.79 0.17 0.23 0.12 0.001 0.002 0.003
a Missing values range from 4 to 59 cases.
bMean score of four questions about general knowledge. c Mean score of five questions about HCM and genetics.
d Paediatric cardiology and electrophysiology subspecialties.
in ordering DNA tests, difficult access to clinical geneticists, patient characteristics (old patients, no need for reproductive decisions) and the unclear therapeutic consequences of positive DNA test results, were also put forward as partial justification for their restraint. Some cardiologists mentioned a lack of time, in combination with a particular view on their own professional responsibilities, not to include clinical genetic care. This is in agreement with a UK study (Confidential Enquiry into Counselling for Genetic Disorders by non-geneticists, CEGEN) showing that medical specialists predominantly focus on disease management rather than the need for genetic counselling and provision of information to make reproductive and preventive decisions [10].
CHAPTER 2
Table 4. Cardiologists' opinions on proposed measures for improvement of genetic care
for HCM patients and their families (n=197)
Proposed measure3
Regular refresher education courses about HCM and genetics Improving access to existing knowledge (e.g. website) Developing clinical guidelines regarding the use of genetic knowledge in HCM patients and their families
Changing/improving current working relationships with clinical geneticists
Changing/improving cardiologists'access to DNA laboratories
3 Missing values per question range from 3 to 5.
Proposed measure is Desirable 183(94%) 164(85%) 182(94%) 132(68%) 102(53%) Indecisive 2(1.0%) 12(6.2%) 5 (2.6%) 27(14%) 35(18%) Undesirable 9 (4.6%) 17 (8.8%) 7 (3.6%) 35(18%) 55 (29%)
Although the age and gender distribution of the participants did not differ from the Dutch cardiologists'population, it is possible that cardiologists with higher levels of knowledge or with more experience, or the most experienced cardiologist per department, are over-represented. Supportive for this is the fact that our group, one third of all cardiologists, treats about 50% of all HCM patients (assuming a prevalence of 17.9 HCM patients under surveillance per 100 000 adults) [17]. It is unlikely that the self-report survey invoked socially desirable answers on HCM treatment experience, opinions and attitudes. The reported crude HCM prevalence rates and disease severity seem realistic.
Many cardiologists stress the need for education and genetic guidelines, both being scarce at this moment. Students and residents receive almost no formal education on genetics. The professional Society (NVvC) only occasionally offers genetic education as refresher courses. Neither (inter)national guidelines on the genetic aspects of HCM, DNA testing and genetic counselling, nor professional guidelines in cardiology departments are currently available [18,19].The development of genetic guidelines and educational activities (in which the Internet could play a role), similar to US initiatives (National Coalition for Health Professional Education in Genetics, NCHPEG), are therefore urgently needed [20,21]. Many cardiologists would also welcome regional knowledge centres for genetics and HCM to which patients can be referred for a 'genetic work-up'. A few years ago, five Dutch 'cardiogenetic outpatient clinics'were set up in teaching and non-teaching hospitals. Here, collaborative groups of specialised cardiologists, clinical geneticists and genetic counsellors guide the evaluation and counselling of patients with (possible) genetic heart disease. By creating expertise centres, existing knowledge and rapidly changing insights into cardiogenetics can be disseminated continuously to cardiologists, and to the patients and families being referred.
We observe huge discrepancies between levels of genetic knowledge of Dutch cardiologists, their current practice and structural support on the one side, and clinical genetic counselling standards on the other. Ongoing educational activities, development of guidelines and increased collaborative effort between (genetically knowledgeable) cardiologists and
patients with genetic heart disease and their families in the genomics era that has already started.
Acknowledgements
We would like to thank all Dutch cardiologists who responded to our survey. Also we acknowledge the Cardiovasculair Onderwijs Instituut (CVOI) of the NVvC for their financial and practical assistance in the mailing of the questionnaires and reminders, Phia Kuijten-Smid for practical help in preparing and handling this survey and Prof. Dr. P. Doevendans for his assistance in performing the pilot.
Financial support: The mailing of questionnaires and reminders was funded by the Netherlands Society of Cardiology/CVOI.
CHAPTER 2
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