Is Neonatale Screening op Mucoviscidose aangewezen in België?

32 Cystic Fibrosis Neonatal Screening KCE Reports 132
The latter recommendation (the law in France does not allow to perform genetic
testing in a child, ie sibling, less than 18 years of age unless it provides personal benefit)
aims to avoid early identification of children with genotypes of uncertain significance but
should presumably be restricted to asymptomatic children. The US guidelines also
recommend a sweat test for any half-siblings who have signs or symptoms of CF or who
have 2 parents known to be carriers. 44
4.1.5 Quality assurance
In this context of rapidly expanding CF NBS programs, quality assurance is now a major
issue. Integrated screening programs are recommended, which include centralization of
outcome data from all CF centres and allow a monitoring structure to evaluate and
modify screening algorithms if needed. 45, 117, 156 In France, this surveillance committee is a
small, well-funded structure derived from the Association Française pour le Dépistage
et la Prévention des Handicaps de l'Enfant (AFDHPE, French Association for the
Screening and Prevention of Infants Handicaps) which is mandated by the Ministry of
Health to organize CF NBS within the same framework as other screening tests. It
includes a senior CF physician working part time (one day/week) and centralizing data
from the 22 regional associations. They provide the following data on a quarterly basis
to the national structure: 1. Data on each “positive IRT test” (ie IRT value, date of
sampling, genetic finding, sweat test result, conclusion of the centre) and 2. Summary
items form completed by the CF centre physician (date of initial consultation at CF
centre, CF status of the child, and in case of confirmed CF: family history for CF,
personal symptoms). Reimbursement of IRT laboratories (n=23) and CFTR laboratories
(n=9) is performed quarterly after the national structure has checked the the adequacy
of the IRT results/sampling. In addition, the monitoring structure is also collecting
through a yearly questionnaire to the accredited CF centres data on false-negative cases
diagnosed on the basis of clinical symptoms. A questionnaire is also sent to the regional
associations in charge of collecting IRT values. The national structure has a technical
committee with quarterly meeting. One person is responsible for IRT evaluation and
one for molecular testing. It also plays an important role in adjusting IRT cutoff values to
maintain the percentage of positive screens at around the 0.5% target and continuously
trying to improve the algorithm. For example, from February 2010 a prospective study
has started to assess in 500 000 newborns within one year the possible role of PAP
measurements – in parallel to the current algorithm – with the main objective to reduce
the rate of carrier detection.
A further step towards quality assurance has recently been reported by North-
American authors who comprehensively tracked and rated 112 potential errors in the
whole CF NBS programs. It appeared that 60 % of the most serious potential errors are
related to communication challenges. 162 Table 4 summarizes the very concrete critical
points identified in this study. The authors generated a list of 120 of potential errors
throughout the whole CF NBS program, each of which was then rated on a 1 to 10
scale for severity, occurrence probability, and detectability. The product of these is the
Risk Priority Number or RPN *. Of note, two of the 7 most severe identified problems
are related to the role of primary care physicians.