The Attitudes and Intention to Participate in Hemoglobinopathy Carrier Screening in The Netherlands among Individuals from Turkish, Moroccan, and Surinamese Descent

Objective. To explore factors that influence intention to participate in hemoglobinopathy (HbP) carrier screening under Dutch subjects at risk, since HbP became more common in The Netherlands. Method. Structured interviews with 301 subjects from Turkish, Moroccan, or Surinamese ethnicity. Results. Half of the participants were familiar with HbP, 27% with carrier screening. Only 55% correctly answered basic knowledge items. After balanced information, 83% percent of subjects express intention to participate in HbP carrier screening. Intention to participate was correlated with (1) anticipated negative feelings, (2) valuing a physician's advice, and (3) beliefs on significance of carrier screening. Risk perception was a significant determinant, while respondents were unaware of HbP as endemic in their country of birth. Respondents preferred screening before pregnancy and at cost < 50€. Conclusion. These findings show the importance of informing those at risk by tailored health education. We propose easy access at no costs for those willing to participate in HbP carrier screening

Cost-effectiveness of pharmacogenomics in clinical practice: a case study of thiopurine methyltransferase genotyping in acute lymphoblastic leukemia in Europe. Pharmacogenomics

Only a few studies have addressed the cost-effectiveness of pharmacogenetics interventions in healthcare. Lack of health economics data on aspects of pharmacogenetics is perceived as one of the barriers hindering its implementation for improving drug safety. Thus, a recent Institute for Prospective Technological Studies (IPTS) study, entitled &apos;Pharmacogenetics and pharmacogenomics: State-of-the-art and potential socio-economic impact in the EU&apos; included an explorative cost-effectiveness review for a pharmacogenetic treatment strategy compared with traditional medical practice. The selected case study examined the cost-effectiveness of thiopurine methyltransferase (TMPT) genotyping prior to thiopurine treatment in children with acute lymphoblastic leukemia (ALL). Information for the cost-effectiveness model parameters was collected from literature surveys and interviews with experts from four European countries (Germany, Ireland, the Netherlands and the UK). The model has established that TPMT testing in ALL patients has a favorable cost-effectiveness ratio. This conclusion was based on parameters collected for TPMT genotyping costs, estimates for frequency of TMPT deficiency, rates of thiopurinemediated myelosuppression in TPMT-deficient individuals, and myelosuppression-related hospitalization costs in each of the four countries studied. The mean calculated cost per life-year gained by TPMT genotyping in ALL patients in the four study countries was €2100 (or €4800 after 3% discount) based on genotyping costs of €150 per patient. Cost per lifeyear gained is expected to further improve following the introduction of the wider use of TMPT genotyping and the availability of lower cost genotyping methods. Our analysis indicates that TPMT genotyping should be seriously considered as an integral part of healthcare prior to the initiation of therapy with thiopurine drugs

The Preventive Child and Youth Healthcare Service in the Netherlands: The State of the Art and Challenges Ahead

The Netherlands has a unique system for promoting child and youth health, known as the preventive Child and Youth Healthcare service (CYH). The CYH makes an important contribution to the development and health of children and young people by offering (anticipatory) information, immunisation, and screening, identifying care needs and providing preventive support to children and their families from birth up to the age of 18 years. The CYH is offered free of charge and offers basic preventive care to all children and special preventive care to children who grow up in disadvantaged situations, such as children growing up in poverty or in a family where one of the members has a chronic health condition. Basic care is supported by 35 evidence-based guidelines and validated screening tools. Special care is supported by effective interventions. The impact of the CYH is high. It is estimated that every EUR 1 spent on the CYH provides EUR 11 back. Although the Dutch CYH is a solid public health system with a reach of up to 95% among young children, the access to this service could be further improved by paying more attention to health literacy, making special care available to all children in need and improving transmural and integrated care coordination. In addition, the generation of nationwide data could help to demonstrate the impact of the CYH and will direct and prioritise the necessary care. By continuously developing care on the basis of new (scientific) insights and (societal) issues, the CYH will continue to offer all children in the Netherlands the best preventive healthcare

Parental opinions about the expansion of the neonatal screening programme

Background: Advances in genomics will open up opportunities in the fields of genetic testing, early diagnosis and disease treatment. While neonatal screening is the field of application par excellencefor these developments, the debate on its potential benefits and drawbacks is mainly theoretically driven and based on the opinions of professionals. Methods: We conducted a qualitative study of the perceptions, preferences and needs of parents (and parents to be) with respect to expansion of the neonatal screening programme. Seven focus group discussions were conducted. Using disease scenarios, 4 examples of conditions amenable to neonatal screening were discussed in depth. All focus group discussions were audio taped and content analysed. Results: Participants thought that the medical benefits of screening were very important for the child. Assuming the availability of effective early medical treatment, almost 100% would be willing to participate in a screening programme. If such treatment were absent, their potential willingness would be much lower. Conclusions: The divergence in attitudes and preferences we found in this study reflected the complexity inherent in any consideration of screening for additional conditions. To implement such options successfully and to direct applied research in genomics, it is important to develop a better understanding of the thinking of target groups, namely parents. Copyright © 2008 S. Karger AG

Cost-effectiveness of Pharmacogenomics in Clinical Practice: A Case Study of Thyopurine Methyltransferase Genotyping in Acute Lymphoblastic Leukaemia in Europe

Only a few studies have addressed the cost-effectiveness of pharmacogenetics interventions in healthcare. Lack of health economics data on aspects of pharmacogenetics is perceived as one of the barriers hindering its implementation for improving drug safety. Thus, a recent Institute for Prospective Technological Studies (IPTS) study entitled "Pharmacogenetics and pharmacogenomics: State-of-the-art and potential socio-economic impact in the EU" included an explorative cost-effectiveness review for a pharmacogenetic treatment strategy compared with traditional medical practice. The selected case study examined the cost-effectiveness of thiopurine methyltransferase (TMPT) genotyping prior to thiopurine treatment in children with acute lymphoblastic leukemia (ALL). Information for the cost-effectiveness model parameters was collected from literature surveys and interviews with experts from four European countries (Germany, Ireland, the Netherlands and the United Kingdom). The model has established that TPMT testing in ALL patients has a favorable cost-effectiveness ratio. This conclusion was based on parameters collected for TPMT genotyping costs, estimates for frequency of TMPT deficiency, rates of thiopurine-mediated myelosuppression in TPMT-deficient individuals, and myelosuppression-related hospitalization costs in each of the four countries studied. The mean calculated cost per life-year gained by TPMT genotyping in ALL patients in the four study countries was EUR 2100 (or EUR 4800 after 3% discount) based on genotyping costs of EUR 150 per patient. Cost per life-year gained is expected to further improve following the introduction of wider use of TMPT genotyping and the availability of lower cost genotyping methods. Our analysis indicates that TPMT genotyping should be seriously considered as an integral part of healthcare prior to initiation of therapy with thiopurine drugs.JRC.J.5-Agriculture and Life Sciences in the Econom