Appropriateness of newborn screening for classic galactosaemia: a systematic review.

Currently, there is no universal agreement on galactosaemia screening, fundamentally because of the risk-benefit uncertainties. We conducted two exhaustive systematic searches in the main electronic databases (PubMed, Embase, Cochrane, etc.) to recover relevant information about the disease and screening test/s in order to support decision making in Spain. All of the 45 studies identified that covered disease issues were retrospective case series or cross-sectional analysis (level-4 evidence). Studies consistently found that the majority of patients presented characteristic symptomatology before diagnosis. Long term disabilities were not significantly correlated with age of diagnosis, onset of dietary restriction or strict diet compliance. The five studies that provided accuracy data used different cut-off points and verification tests, and thus differed in their definitions of a positive case (level-3b evidence). The estimated sensitivity was 100 % and the specificity 99.9 %. The false-positive rate ranged from 0.0005 % to 0.25 %, and the PPV from 0 % to 64.3 %. The comparative clinical effectiveness in relation to not screening or implementation of other programs is unknown. In summary, existing evidence remains insufficient to establish the appropriateness of newborn screening for galactosaemia screening, although health benefits could be expected if early diagnosis and treatment is achieved. If screening is implemented in Spain, it would be important that a pilot programme be implemented to assess false positive rate and ensure that early diagnosis is not delayed.

[Meningococcal C disease epidemic in Galicia 1996: the decision making process]. / El procedimiento de toma de decisión para controlar la epidemia de meningitis C en Galicia en 1996.

In this article we describe the decision making process used to choose the best alternative for bringing under control an epidemic of meningococcal C disease, which occurred in Galicia in 1996. In the decision making process, we used a methodology which consisted on the identification and definition of a problem, in order to identify alternative solutions and to select one, and finally implement and evaluate it. The health problem was detected studying the data obtained from a survey conducted following an outbreak of meningococcal C disease in february 1995 and from the active epidemiological surveillance system created thereafter. Because this was a new, complex and severe problem, with far-reaching social consequences, critical for our organization, and with long-term implications, and because it was considered important to take the decision as objectively as possible and to clearly explain it, the methodology chosen to solve the problem was a non-programmed, multicriteria making decision process, carried out by a working group using a criterion weighting approach. This working group was created within the General Directorate of Public Health, composed of specialist and of people responsible for the different areas involved. The working group put into practice the different steps of the methodology. The assessment criteria and their respective weights were: effect (efficacy measured by the number of cases we could have prevented if the alternatives were applied in the previous season) 40%; cost (in millions of pesetas) 15%; acceptability (acceptance of and response to each strategy from different groups: general population, health care professionals, other Administrations with competency in Public Health) 30%; and coherence (adherence to the currently accepted strategies for disease control in other countries)15%. When these criteria were applied to the ten alternatives considered, a score was obtained for each one of them. The highest scoring alternative corresponded to the massive vaccination of the total population of Galicia between 18 months and 19 years of age.