Prioritering van criteria voor genetische screening, toegelicht aan de hand van de ziekte primaire hemochromatose

Translated title of the contribution: The prioritisation of genetic screening with primary haemochromatosis as an example

A. J.M. De Craen, M. O. Van Aken, R. G.J. Westendorp

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations

Abstract

In 1994, the Health Council of the Netherlands published a report entitled 'Genetic screening' which contained 12 criteria for genetic screening programmes. However, the list does not prioritise the various criteria. From the list we have selected two criteria that we consider to be the most important. Firstly, the genetic screening test should be able to discriminate between subjects who are likely to develop the disease and those who are not. Secondly, there should be an effective treatment for subjects with the genetic defect. From this point of view, for example, screening for the C282Y mutation is not a suitable approach for detecting primary haemochromatosis. Although 85-90% of the patients with this disease are homozygous for this mutation, the majority of the carriers will not develop the disease. The 12 criteria of the Health Council of the Netherlands are still applicable. However, when taking a decision as to whether or not genetic screening is useful, we recommend that priority be given to the two primary criteria.

Translated title of the contributionThe prioritisation of genetic screening with primary haemochromatosis as an example
Original languageDutch
Pages (from-to)1442-1445
Number of pages4
JournalNederlands Tijdschrift voor Geneeskunde
Volume147
Issue number30
StatePublished - 26 Jul 2003
Externally publishedYes

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