Constructing access in predictive medicine. Comparing classification for hereditary breast cancer risks in England, Germany and the Netherlands.
ABSTRACT In the first decade of the twenty-first century, predictive forms of medicine, largely associated with genetics, have become increasingly prominent. This has given rise to questions about the social consequences of this development, for example with regard to the distribution of health care access. Drawing on qualitative interviews with clinic staff and public officials and on document analyses, we analyse how access to risk assessment and monitoring for hereditary breast cancer predispositions in Germany, the Netherlands and England is produced through the interaction of risk classification and health care organisation. For each of the three countries, we show how particular combinations of genetic testing and family history data, classification of risks and allocation of monitoring services in practice contribute to specific forms of inclusion and exclusion. Thus, we show how risk assessment and monitoring in Germany attributes a large role to genetic testing; how family history information plays a large role in the Netherlands; and how regional differences in health care have a significant influence in England. On the basis of our case study, we argue that health care organisation is an important facet of the allocation of health care access, as it plays an important role in mediating the influence of risk assessment technologies and risk categories in health care access. We conclude that the allocation of risk assessment and monitoring in predictive medicine deserve more extensive political attention.
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ABSTRACT: Considerable progress in public health is expected to occur from the application of genomic knowledge and technologies. This is the subject of a newly emerging field of public health genomics. In this paper we analyze differences in how public health genomics is developing in the Netherlands, the UK and Germany through the definition and diagnosis of familial hypercholesterolaemia (FH), an inherited predisposition for coronary heart disease. We analyzed the emergence of public health genomics within the framework of a project on the incorporation of genetics in western European healthcare schemes. Our analysis is based on document analysis and in-depth interviews. In the Netherlands, public health genomics takes shape through a genetic screening programme for FH, looking for mutations on two specific genes; in the UK it emerges through a strategy of ''mainstreaming'' genetics in health care that aims to identify hereditary predispositions by means of phenotypic diagnosis; and in Germany public health genomics is elaborated at a conceptual level, leaving a diagnosis of FH to individual physicians who occasionally prescribe genetic testing. Our analysis shows how public health genomics gets constituted differently in different countries and, moreover, produces particular patterns of inclusion and exclusion from care. These patterns indicate a paradox in public health genomics, which consists of an inverse relationship between the use of advanced molecular genetic testing technologies and the number and variety of individuals at risk included in the target population. This paradox presents a challenge for professionals and policy makers in public health genomics.Scandinavian Journal of Public Health 08/2011; 39(6):634-9. DOI:10.1177/1403494811414241 · 3.13 Impact Factor
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ABSTRACT: To evaluate the cancer genetic counselling programme in Valencian Community using intermediate indicators. Descriptive analysis of organisational and effectiveness indicators from the start in 2005 until December 2010: correct referral of patients according to the area from where they were referred (primary or hospital-based care) and syndrome; families identified as having each syndrome; suitability of the genetic testing for individuals with a cancer diagnosis (index cases, IC) and relatives of ICs with mutations; family size; and results of genetic testing on genes, ICs and relatives. 9,942 individuals attended, 87.7 % were referred by hospital-based care and 8.4 % by primary care. 7,516 patients (79 %) fulfilled cancer genetic counselling criteria (82 % from hospital-based care and 46 % from primary care). Amongst those who fulfilled the criteria, 59 % of referrals were related to hereditary breast ovarian cancer syndrome and 32 % to hereditary non-polyposis colorectal cancer. ICs were found in 3,082 families (78.7 %) and genetic testing was carried out on 91.3 % of them. Pathogenic mutations were detected in 21.8 % of the ICs and the testing was then offered to their relatives (an average of 3 per IC). Pathogenic mutations were found in 54 % of the assessed relatives. Results in 5 years confirm the appropriateness of these facilities, as part of an integrated health service, to identify families and individuals with genetic risk to offer them personalized counselling. Improvements have to be made with regard to the information given to both health professionals and patients about the risk criteria for various syndromes.Familial Cancer 11/2013; 13(2). DOI:10.1007/s10689-013-9693-0 · 1.62 Impact Factor
Social Science [?] Medicine 06/2011; 72(11):1739-42. DOI:10.1016/j.socscimed.2011.05.001 · 2.56 Impact Factor