Is faster diagnosis of rare diseases feasible?

Abel Thijs, Gabor E. Linthorst

Research output: Contribution to journalArticle*Professional


Not only rare diseases are uncommon. There are also rare presentations of common diseases, not to mention rare side effects of infrequently prescribed or new drugs. Not all of these rare disease presentations have a genetic causal component. Additional (genetic or non-genetic) ancillary diagnostic tests, in which some of the inevitably occurring chance findings will present us with new problems, are not the solution for this problem, nor are disease or therapy oriented centres of expertise. The solution should be sought in pattern recognition; not by the individual physician, but through collaboration of physicians who take the time to give meaning to carefully obtained clinical parameters in individual patients. The size and composition of such a - often ad hoc - partnership should be adapted to each individual situation.
Translated title of the contributionIs faster diagnosis of rare diseases feasible?
Original languageDutch
Article numberD4734
JournalNederlands Tijdschrift voor Geneeskunde
Issue number19
Publication statusPublished - 30 Apr 2020

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