Article

Benefit of population-based screening for phenotypic hemochromatosis in young men

Cancer Registry of Norway, Kristiania (historical), Oslo, Norway
Scandinavian Journal of Gastroenterology (Impact Factor: 2.33). 11/2002; 37(10):1212-9. DOI: 10.1080/003655202760373443
Source: PubMed

ABSTRACT Hereditary hemochromatosis (HH) is a common genetic disease leading to accumulation of iron in the body, most notably in the liver. More men than women become clinically ill. The prognosis is excellent if phlebotomy treatment is started before liver cirrhosis develops. Screening has been recommended, but the benefit of population-based screening has never been shown in a randomized clinical trial. In this article, we estimate the benefit of screening young men, using a theoretical model.
A phenotypic screening scenario was modelled using a decision tree. Gain of quality-adjusted life-years was used as a measure of benefit, and estimated using Markov processes. Data on the accuracy of the screening tests, the prevalence of HH and the risk of liver cirrhosis were mainly derived from a cross-sectional study on the prevalence and morbidity of HH in 30509 men. Data on the excess mortality of cirrhosis were taken from relevant literature. Sensitivity analysis was done for important variables.
Assuming basal case values for variables, screening a cohort of 1000 men aged 30 years for phenotypic HH would gain about 8 quality-adjusted life-years, compared to awaiting symptomatic disease. Based on actual costs of our cross-sectional study, the screening cost was US$250 per quality-adjusted life-year gained. The prevalence of phenotypic HH, the excess mortality of liver cirrhosis, the quality of life in non-cirrhotic HH patients, and the fractions of patients compliant with treatment were the most important variables in the sensitivity analysis.
Incorporating screening for phenotypic HH in health survey programmes for young men may be worthwhile.

0 Followers
 · 
68 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Angesichts der Vielzahl neuer genetischer Tests sehen sich öffentliche Geldgeber der Forderung gegenüber, in Forschung zu deren Wirksamkeit und Wirtschaftlichkeit zu investieren. Solche Untersuchungen rentieren sich aber nur, wenn die daraus gewonnenen Ergebnisse einen relevanten Einfluss auf die Versorgungspraxis haben. Eine Obergrenze für den Wert zusätzlicher Informationen, die die Entscheidungsgrundlage für die Erstattung einzelner Gentests verbessern würden, ist durch den Erwartungswert perfekter Information (Expected Value of Perfect Information, EVPI) gegeben. Die vorliegende Studie illustriert die Bedeutung des EVPI auf Grundlage einer probabilistischen Kosteneffektivitätsanalyse des Screenings auf hereditäre Hämochromatose bei Männern in Deutschland. Hier ist die Einführung eines Bevölkerungsscreenings bei Schwellenwerten von 50.000 oder 100.000 Euro pro gewonnenem Lebensjahr kaum zu empfehlen, und auch der maximal erreichbare Nutzen weiterer Forschung, die zur Revidierung dieser Entscheidung führen könnte, ist gering: Bei den genannten Schwellenwerten beträgt der EVPI 500.000 beziehungsweise 2,2 Mio. Euro. Eine Analyse des EVPI für einzelne Parameter(-gruppen) zeigt, dass Studien über die Adhärenz zur präventiven Phlebotomie den größten potenziellen Nutzen haben. Der Informationswert hängt auch von methodischen Annahmen zum Zeithorizont der Berechnung ab sowie von Szenarien zur Zahl der betroffenen Patienten und der Wirtschaftlichkeit des Screenings.
    Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz 05/2012; 55(5). DOI:10.1007/s00103-012-1474-7 · 1.01 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Public decision makers face demands to invest in applied research in order to accelerate the adoption of new genetic tests. However, such an investment is profitable only if the results gained from further investigations have a significant impact on health care practice. An upper limit for the value of additional information aimed at improving the basis for reimbursement decisions is given by the expected value of perfect information (EVPI). This study illustrates the significance of the concept of EVPI on the basis of a probabilistic cost-effectiveness model of screening for hereditary hemochromatosis among German men. In the present example, population-based screening can barely be recommended at threshold values of 50,000 or 100,000 Euro per life year gained and also the value of additional research which might cause this decision to be overturned is small: At the mentioned threshold values, the EVPI in the German public health care system was ca. 500,000 and 2,200,000 Euro, respectively. An analysis of EVPI by individual parameters or groups of parameters shows that additional research about adherence to preventive phlebotomy could potentially provide the highest benefit. The potential value of further research also depends on methodological assumptions regarding the decision maker's time horizon as well as on scenarios with an impact on the number of affected patients and the cost-effectiveness of screening.
    Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz 05/2012; 55(5):700-9. · 1.01 Impact Factor
  • Blood 01/2003; 101(9):3354-3357. DOI:10.1182/blood-2002-12-3926 · 9.78 Impact Factor

Kristian S Bjerve