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.

Keywords

Exclusion familial hypercholesterolemia Germany Netherlands public health genomics United Kingdom

Get full access to this article

View all access options for this article.

References

Brand A. Public health genetics in the UK and Germany: a network of excellence for the integration of genomics into public health research, policy and practice in Europe: workshop. Eur J Public Health 2004 ;14(4):S52-S53.

Burke W. , Khoury M. , Stewart A. , Zimmern R. The path from genome-based research to population health: development of an international public health genomics network. Genetics Med 2006;8(7):451-8.

Knoppers B. , Brand A.

From community genetics to public health genomics -what’s in a name?

Public Health Genomics 2009;12(1):1-3.

Genome-based research and population health. Report of an expert workshop held at the Rockefeller Foundation Study and Conference Centre Bellagio, Italy, 14-20 April 2005. Available from: http://dceg.cancer.gov/files/genomicscourse/bellagio-011807.pdf (accessed 29 October 2010).

Detels R. , Breslow L. Current scope and concerns in public health. In: Detels R , McEwen J , Beaglehole R , Tanaka H , editors. Oxford Textbook of Public Health, 4th edn edn. Oxford: Oxford University Press; 2004. pp. 3-20.

Knoppers B. , Leroux T. , Doucet H. , Godard B. , Laberge C. , Stanton-Jean M. , et al. Framing genomics, public health research and policy: points to consider. Public Health Genomics 2010;13(4):224-34.

Evans J. , Skrzynia C. , Burke W. The complexities of predictive genetic testing. BMJ 2001;322:1052-6.

Holtzman N. , Marteau T.

Will genetics revolutionize medicine?

N Engl J Med 2000;343:141-4.

Holtzman N.

What role for public health in genetics and vice versa?

Comm Genetics 2006;9:8-20.

10.

Khoury M. , McCabe L. , McCabe E. Population screening in the age of genomic medicine. N Engl J Med 2003;348(1):50-8.

11.

Humphries S. , Ridker P. , Talmud P.

Genetic testing for cardiovascular disease susceptibility: a useful clinical management tool or possible misinformation?

Arteriosclerosis Thromb Vasc Biology 2004 ;24:628-36.

12.

Allin S. , Mossialos E. , McKee M. , Holland W. Making decisions on public health: a review of eight countries. Brussels: European Community; 2004 .

13.

Payer L. Medicine and culture: notions of health and sickness in Britain, the US, France and West-Germany. London: Gollancz; 1990.

14.

Daemmrich A. Pharmacopolitics: drug regulation in the United States and Germany. Chapel Hill: University of North Carolina Press; 2004.

15.

Jasanoff S , editor. States of knowledge. The co-production of science and social order. London: Routledge; 2004. ( International Library of Sociology).

16.

Lameire N. , Joffe P. , Wiedemann M. Healthcare systems - an international review: an overview. Nephrol Dial Transplant 1999;14(Suppl 6):3-9.

17.

van der Zee J. , Kroneman M. Bismarck or Beveridge: a beauty contest between dinosaurs. BMC Health Service Res 2007;7(94).

18.

Ueda M. Familial hypercholesterolemia. Molec Genetics Metab 2005;86:423-6.

19.

Bhatnagar D. Diagnosis and screening for familial hypercholesterolaemia: finding the patients, finding the genes. Ann Clin Biochem 2006;43:441-56.

20.

Soutar A. , Naoumova R. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nature Clin Pract Cardiovasc Med 2007;4(4):214-25.

21.

Lansberg P. , Tuzgöl S. , van de Ree M. , Defesche J. , Kastelein J. Prevalence of familial hypercholesterolaemia among adults

22.

in four general practices is higher than assumed. Dutch Journal of Medicine 2000;144(30):1437-40.

23.

Goodwin J. , Horowitz R. Introduction: the methodological strengths and dilemmas of qualitative sociology. Qualitat Sociol 2002;25(1):33-47.

24.

Walma E. , Visseren F. , Jukema J. , Kastelein J. , Hoes A. , Stalenhoef A. Guideline ‘Diagnosis and Treatment of Familial Hypercholesterolaemia’ of the Health Care Insurance Board. Dutch Journal of Medicine 2006;150(1):18-23.

25.

CvZ. Screening for familial hypercholesterolaemia in the Netherlands. Amstelveen ; 2001.

26.

CvZ. Annual report detection Familial hypercholesterolaemia 2004. Diemen; 2005.

27.

Horstman K. Genes, lifestyle and cholesterol. New struggles about responsibility and solidarity . In: Vries G , de, Horstman K , editors. Genetics from laboratory to society. Societal learning as an alternative to regulation. Basingstoke : Palgrave Macmillan; 2008.

28.

Hadfield G. , Horara S. , Starr B. , Yazdgerdi S. , Marks D. , Bhatnagar D. , et al. Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project. Ann Clin Biochem 2009;46:24-32.

29.

National Institute for Health and Clinical Excellence. Identification and management of familial hypercholesterolemia . NICE Clinical Guideline 71. London: NICE; 2008.

30.

German Society for the Fight against Disorders of the fat metabolism and related diseases. Recommendations on the Diagnosis and therapy of disorders of the fat-metabolism in medical practice. 2006. Available from: http://www.lipidliga.de/pdf/lldiagn.pdf (accessed 18 November 2010).

31.

Schmidtke J. Public health genetics. Still controversial in Germany. German Journal of Physicians 2007 ;104(41): 2788-90.

32.

Kälble K. , Dabrock P. , Schröder P. , Wewetzer C. Public health genetics. A review of six months of work and research at ZiF; 2004. Available from: http://www.unibielefeld.de/ZIF/KG/2003PHG/Rueckblick_Brand.pdf (accessed 18 November 2010).

33.

Ilkilic I. , Wolf M. , Paul N. Brave new world of prevention? On the conditions and reach of public health genetics. The Health System 2007;69:53-62.

34.

Mechanic D. , Rochefort D. Comparative medical systems. Annu Rev Sociol 1996;22:239-70.

35.

Aarden E. , van Hoyweghen I. , Horstman K. Constructing access in predictive medicine. Comparing classification for hereditary breast cancer risks in England, Germany and the Netherlands. Soc Sci Med 2011;72(4):553-9.