[Genetic counseling in Germany: development of demand]. / 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.

Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists.

OBJECTIVE: To develop a generic scale for assessing attitudes towards genetic testing and to psychometrically assess these attitudes in the context of BRCA1/2 among a sample of French general practitioners, breast specialists and gyneco-obstetricians. STUDY DESIGN AND SETTING: Nested within the questionnaire developed for the European InCRisC (International Cancer Risk Communication Study) project were 14 items assessing expected benefits (8 items) and drawbacks (6 items) of the process of breast/ovarian genetic cancer testing (BRCA1/2). Another item assessed agreement with the statement that, overall, the expected health benefits of BRCA1/2 testing exceeded its drawbacks, thereby justifying its prescription. The questionnaire was mailed to a sample of 1,852 French doctors. Of these, 182 breast specialists, 275 general practitioners and 294 gyneco-obstetricians completed and returned the questionnaire to the research team. Principal Component Analysis, Cronbach's α coefficient, and Pearson's correlation coefficients were used in the statistical analyses of collected data. RESULTS: Three dimensions emerged from the respondents' responses, and were classified under the headings: "Anxiety, Conflict and Discrimination", "Risk Information", and "Prevention and Surveillance". Cronbach's α coefficient for the 3 dimensions was 0.79, 0.76 and 0.62, respectively, and each dimension exhibited strong correlation with the overall indicator of agreement (criterion validity). CONCLUSIONS: The validation process of the 15 items regarding BRCA1/2 testing revealed satisfactory psychometric properties for the creation of a new scale entitled the Attitudes Towards Genetic Testing for BRCA1/2 (ATGT-BRCA1/2) Scale. Further testing is required to confirm the validity of this tool which could be used generically in other genetic contexts.

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

BACKGROUND: 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.

Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities.

Genetic testing has its greatest public health value when it identifies individuals who will benefit from specific interventions based upon their risk. This paradigm is the basis for the use of predictive tests, such as BRCA1/BRCA2 testing which has become part of clinical practice for more than a decade. Currently predictive BRCA1/BRCA2 testing is offered to women using low, moderate and high risk based upon family history as cut-off levels. Non-genetic health professionals such as general practitioners (GPs) and breast surgeons (BS) are seen as gatekeepers to manage demand and/or facilitate access to appropriate services for high-risk patients. Data about current practices are lacking. The paper presents data on the current practice of GPs' and BS' cancer risk assessment, referral practices and preferred practice responsibilities for women at risk for familial breast cancer in France, Germany, the Netherlands and the UK derived by a self-administered questionnaire send to a representative sample of GPs and BS in the four countries. One thousand one hundred ninety-seven GPs and 1,223 BS completed the questionnaire. Both GPs and BS reported that they are consulted by a considerable number of patients presenting with concerns about a family history of cancer. Both commonalities and striking differences could be observed between GPs and BS from the four participating countries. GPs from France and Germany reported significantly higher proportions taking a family history of cancer including the extended family than GPs from the Netherlands and the UK. Most GPs from France, Germany and the Netherlands stated their willingness for providing risk assessment for an unaffected (high-risk) woman with a family history of breast cancer and the vast majority of BS from all four countries reported that they themselves would provide risk assessment for an unaffected (high-risk) woman with a family history of breast cancer. However, a substantial number of both GPs and BS would not have taken an appropriate family history for their patient failing to take into account the paternal side of the family. GPs from Germany reported a significantly lower readiness to refer a patient with a family history of a BRCA1 mutation for specialist genetic counselling when compared to the GPs from the other countries. GPs and BS from France, Germany and the Netherlands significantly less often assigned practice responsibilities to a genetic specialist as compared to the participating GPs and BS from the UK. The outcome of the study confirms the need for capability building in genetics for non-genetic health professionals. Using genetic risk assessment tools without a full understanding could result in missed opportunities for cancer prevention and harm patients. In order to provide best possible services for high-risk patients presenting with cancer concerns, close collaboration with clinical geneticists should become routine part of mainstream medical practice.

Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany.

In this review, the national guidelines and recommendations for genetic testing for familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were evaluated as to the inclusion criteria for genetic testing. In all four countries, access to genetic testing relies basically on the family history of breast and ovarian cancer. Similarities are obvious for most selection criteria. All four guidelines recommend embedding genetic testing within a framework of genetic counselling, and all agree to perform genetic testing first in an affected person. However, there are differences regarding the thresholds based on certain familial constellations, detailed description of selection criteria, the degree of relatedness between affected individuals and the counsellee, the age of diagnosis, the individual history of early onset breast cancer, bilateral breast cancer, the tumour morphology or the access to intensified surveillance. These differences and open questions not covered by the guidelines, e.g. on how to deal with phenocopies, unclassified variants, genetic variants in newly identified breast cancer susceptibility genes or with family constellations not fitting the criteria, are discussed. New evidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelines will ensure high quality health care across Europe.

DNA-based genetic testing is rising steeply in a national health care system with open access to services: a survey of genetic test use in Germany, 1996-2002.

The extent to which the fast-growing body of genetic knowledge is transferred into everyday clinical practice has nowhere been assessed in a systematic way. Available quantitative analyses of DNA-based genetic test provision and uptake rates are all concerned with specific test programs. The German health-care system is ideally suited for a more general approach, because it is highly flexible regarding access to services, thus permitting quick adjustments to sudden changes in particular subfields of medicine such as genetic testing. We have measured the amount of genetic service provision in Germany between 1996 and 2002 by making use of the central database of the German national health-care system and by inquiring with private health insurance. We can document a three-fold increase of DNA-based testing in the time period 1996-2002, whereas cytogenetic analyses and genetic counseling have remained constant. The growing body of genetic knowledge does indeed seem to be transferred into medical practice at an increasing rate, and the uptake rates are largely in proportion to test offers. DNA-based testing appears to be focussed on disease-associated germ-line alterations.

Women's experiences of undergoing BRCA1 and BRCA2 testing: organisation of the German Hereditary Breast and Ovarian Cancer Consortium Survey and Preliminary Data from Münster.

BACKGROUND: In order to promote safe and effective testing for BRCA1 and BRCA2 mutations in clinical practice, a network of expert centres in hereditary breast and ovarian cancer ('Verbundprojekt familiärer Brust- und Eierstockkrebs'; German Consortium on Hereditary Breast and Ovarian Cancer) has been established by the Deutsche Krebshilfe (German Cancer Aid). To improve practice, evaluations based upon the views of patients who have undergone testing concerning the impact of the genetic diagnosis and the quality of the services they receive and require are undertaken. METHODS: Herein, we first describe the protocols for interdisciplinary pre- and post-test counselling and for molecular diagnostics, then the feedback from the patients undergoing testing. Women and men who had obtained their test results at least 6 months earlier were interviewed using a questionnaire including open and standardised questions at 11 participating centres in 2002-2003. Reported here are the survey protocol and preliminary data from interviews with women conducted by the centre based at the University of Münster's Medical School in 2002 (n = 46). RESULTS: Compared to international guidelines, the Consortium's protocols provide more specifically outlined indications based on the mutation frequencies observed in the German population for families that should be offered interdisciplinary counselling and genetic testing. The data from the Münster survey suggest that there is little regret regarding the decision to undergo testing and that the vast majority of women would undergo the test again. However, women with positive findings experienced more problems than women with negative results. They were less prone to recommend the test and to communicate the tests results in their family compared to women with negative test results. Communication of test results within the family was characterised by preferential information of female family members. CONCLUSION: BRCA1/2 testing should be provided within a framework that ensures harmonisation and standardisation of services and that protects users. Women and men with positive test results may need special support from counsellors on how to handle test results in their families. Strategies need to be developed and evaluated on how to help stimulate and facilitate the dissemination of information within families without potentially 'overstraining' the 'messenger patient', at least when a mutation has been identified.

The pros and cons of human therapeutic cloning in the public debate.

Few issues linked to genetic research have raised as much controversial debate as the use of somatic cell nuclear transfer technology to create embryos specifically for stem cell research. Whereas European countries unanimously agree that reproductive cloning should be prohibited there is no agreement to be found on whether or not research into therapeutic cloning should be permitted. Since the UK took the lead and voted in favour of regulations allowing therapeutic cloning the public debate has intensified on the Continent. This debate reflects the wide spectrum of diverse religious and secular moralities that are prevalent in modern multicultural European democratic societies. Arguments range from putting forward strictly utilitarian views that weight the moral issues involved against the potential benefits that embryonic stem cell research may harbour to considering the embryo as a human being, endowed with human dignity and human rights from the moment of its creation, concluding that its use for research is unethical and should be strictly prohibited. Given the current state of dissension among the various European states, it is difficult to predict whether 'non-harmonisation' will prevail or whether in the long run 'harmonisation' of legislation that will allow stem cell research will evolve in the EU.