General Practitioners and Breast Surgeons in France, Germany, Netherlands and the UK show variable breast cancer risk communication profiles

International audienceBackground: No information is available on the attitudes of General Practitioners (GPs) and Breast Surgeons (BSs) to their delivery of genetic, environmental and lifestyle risk factor information about breast cancer. The aim of this study was to describe the Breast Cancer Risk Communication Behaviours (RCBs) reported by GPs and BSs in four European countries and to determine the relationships between their RCBs and their socio-occupational characteristics. Methods: Self-administered questionnaires assessing breast cancer risk communication behaviours using vignettes were mailed to a sample of Breast Surgeons (BS) and General Practitioners (GP) working in France, Germany, the Netherlands, and the UK (N = 7292). Their responses to questions about the risk factors were first ordered and compared by specialty and country after making multivariate adjustments. Rather than defining a standard Risk Presentation Format (RPF) a priori, the various RPFs used by the respondents were analyzed using cluster analysis. Results: Family history and hormonal replacement therapy were the risk factors most frequently mentioned by the 2094 respondents included in this study. Lifestyle BC risk factors such as obesity and alcohol were rarely/occasionally mentioned, but this point differed (p < 0.001) depending on the country and the specialty of the providers involved. Five distinct RPF profiles including the numerical/verbal presentation of absolute/relative risks were identified. The most frequently encountered RPF (34.2%) was characterized by the fact that it included no negative framing of the risks, i.e., the probability of not developing cancer was not mentioned. Age, specialty and country of practice were all found to be significant determinants of the RPF clusters. Conclusions: The increasing trend for GPs and BSs to discuss lifestyle risk factors with their patients suggests that this may be a relevant means of improving breast cancer prevention. Physicians' risk communication skills should be improved during their initial and vocational training

Testing the Children: Do Non-Genetic Health-Care Providers Differ in Their Decision to Advise Genetic Presymptomatic Testing on Minors? A Cross-Sectional Study in Five Countries in the European Union

BACKGROUND: Within Europe many guidelines exist regarding the genetic testing of minors. Predictive and presymptomatic genetic testing of minors is recommended for disorders for which medical intervention/preventive measures exist, and for which early detection improves future medical health. AIM: This study, which is part of the larger 5th EU-framework "genetic education" (GenEd) study, aimed to evaluate the self-reported responses of nongenetic health-care providers in five different EU countries (Germany, France, Sweden, the United Kingdom, and the Netherlands) when confronted with a parent requesting presymptomatic testing on a minor child for a treatable disease. METHODS: A cross-sectional study design using postal, structured scenario-based questionnaires that were sent to 8129 general practitioners (GPs) and pediatricians, between July 2004 and October 2004, addressing self-reported management of a genetic case for which early medical intervention during childhood is beneficial, involving a minor. RESULTS: Most practitioners agreed on testing the oldest child, aged 12 years (81.5% for GPs and 87.2% for pediatricians), and not testing the youngest child, aged 6 months (72.6% for GPs and 61.3% for pediatricians). After multivariate adjustment there were statistical differences between countries in recommending a genetic test for the child at the age of 8 years. Pediatricians in France (50%) and Germany (58%) would recommend a test, whereas in the United Kingdom (22%), Sweden (30%), and the Netherlands (32%) they would not. CONCLUSION: Even though presymptomatic genetic testing in minors is recommended for disorders for which medical intervention exists, EU physicians are uncertain at what age starting to do so in young children

General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers’ practices

It is increasingly recognised that genetics will have to be integrated into all parts of primary health care. Previous research has demonstrated that involvement and confidence in genetics varies amongst primary care providers. We aimed to analyse perceptions of primary care providers regarding responsibility for genetic tasks and factors affecting those perceptions. Postal questionnaire including a hypothetical case management scenario of a cardiac condition with a genetic component was sent to random samples of medically qualified general practitioners in France, Germany, Netherlands, Sweden and UK (n = 1,168). Logistic regression analysis of factors affecting primary care practitioners’ willingness to carry out genetic tasks themselves was conducted; 61% would take a family history themselves but only 38% would explain an inheritance pattern and 16% would order a genetic test. In multivariate analysis, only the country of practice was consistently predictive of willingness to carry out genetic tasks, although male gender predicted willingness to carry out the majority of tasks studied. The stage of career at which education in genetics had been provided was not predictive of willingness to carry out any of the tasks analysed. Country of practice is significantly predictive of attitudes towards genetics in primary care practice and therefore genetic education structure and content in Europe will need to be significantly tailored towards country-specific approaches

Genetische Beratung und Inanspruchnahme GenBIn2

Die genetische Beratung wird durch das Gendiagnostikgesetz und die Richtlinie über die Anforderungen an die Qualifikation zur und Inhalte der genetischen Beratung der Gendiagnostik-Kommission beim Robert Koch-Institut geregelt. Ziel ist es, die betroffenen Personen in die Lage zu versetzen, eine informierte Entscheidung über die Durchführung der genetischen Untersuchung zu treffen und mit den Untersuchungsergebnissen angemessen umzugehen. Die GenBIn2-Studie liefert mit einer Laufzeit vom 01.12.2015 bis 31.03.2018 einen umfassenden aktuellen Überblick zur Inanspruchnahme der genetischen Beratung in Deutschland. Der Dokumentationszeitraum umfasste insgesamt 12 Monate bzw. 4 Kalendervierteljahre mit maximal 100 genetischen Beratungsfällen je teilnehmender Einrichtung. Mit der GenBIn-Datenbank steht jetzt ein Datensatz von mehr als 5000 humangenetischen Beratungsfällen zu Verfügung („best possible data“). Dieser ermöglicht es, einen Vergleich mit den GenBIn1-Daten zum "Status quo ante" in 2011 (vor Inkrafttreten der Richtlinie der Gendiagnostik-Kommission) zu ziehen und einen differenzierten Einblick in aktuelle Entwicklungen der genetischen Beratung zu gewinnen

Die soziale Situation Erwachsener mit congenitaler Fehlbildung: eine sekundäranalytische Untersuchung zur sozialen Benachteiligung Körperbehinderter

Nippert I. Die soziale Situation Erwachsener mit congenitaler Fehlbildung: eine sekundäranalytische Untersuchung zur sozialen Benachteiligung Körperbehinderter. Bielefeld; 1981

Humangenetische Beratung in Deutschland: Entwicklung der Inanspruchnahme

Background!#!With the Act on Genetic Testing (GenDG), the German legislator has issued far-reaching regulations for human genetic services, including genetic counseling. This paper presents data on the use of human genetic counseling in the years before and after the entry into force of GenDG in order to provide an informed assessment of the possible effects of the law.!##!Materials and methods!#!Over a period of 13 years (2005 to 2017), the human genetic counseling services provided within the framework of the statutory health insurance and billable by EBM via the Kassenärztliche associations were recorded via a database query at the Central Institute of the National Association of Statutory Health Insurance Physicians (ZI-KBV) and via individual Kassenärztliche Vereinigungen Deutschlands. For the discussion of the observable development of using genetic counseling and possible future development, additional data on the referral behavior, the waiting times, processing time, and reasons for consultations were extracted from the GenBIn database.!##!Results and discussion!#!Demand for genetic counseling has steadily increased at an average rate of approximately 6% per year since 2009. This increase started well before the enactment of the GenDG and may be attributed to a multiplicity of factors. Change in demand for genetic counseling is characterized by increasing self-referrals and by increasing referrals by specialists other than obstetricians/gynecologists. Waiting times between 2011 and 2016/2017 have increased. While demand has been growing, the number of key service providers, the contracted medical specialists in human genetics, has remained almost constant. It is foreseeable that capacity limits will be reached if both trends continue