The paradox of public health genomics: Definition and diagnosis of familial hypercholesterolaemia in three European countries

Abstract

Aims: 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. Methods: 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. Results: 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. Conclusions: 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.