Polymorphism-screening: genetic testing for predisposition—guidance for technology assessment

摘要

Health policy is increasingly confronted with the demand for financing genetic testing on inherited susceptibility to disease. Tests on polymorphism/SNP associated with multicausal and chronic conditions are already offered in private commercial institutions or in academic hospitals. The increasing pressure on public health services to offer SNP testing leads to first methodological approaches for a generally valid regulatory framework applicable for inclusion or refusal of genetic tests into the public health services. Systematic search in Medline, Embase and the Web for methodological papers or guidelines for the assessment of polymorphism-screening. Since genetic testing has not only clinical and economic effects on health care, but also primarily ethical consequences by profiling our understanding of "health" and "disease", this paper gives an overview of relevant aspects and background information to consider in the assessment of genetic tests. Although 2-3 million SNPs are identified and the journals are full of reported "significant" associations between disease and mutation, only a few can be replicated unequivocally. The ACCE (Analytic and Clinical Validity, Clinical utility; Ethical, legal and social implications)-framework was developed by the Center of Disease Control for the assessment of genetic testing. This standardised appraisal approach proposes collecting and evaluating: (a) Prevalence, genotype-/phenotype-relation. (b) Clinical presentation: natural history; the different expressions of disease, (c) Performance of the genetic test, (d) Implications for therapy and prevention, (e) Conclusion for clinical applications of risk-profiling of health on their susceptibility to disease and/ or for clarification of disease for therapy planning. Since genetic testing is urging its way into the health care system, the actual danger is, that population screening starts before valid evidence from big prospective studies have been carried out and delivered proofs of direct causal associations. Before diffus ing into the health care system we are suggesting to take a cautious and standardised approach.