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.

IntroductionThe management of the COVID-19 pandemic is a challenge for Health Technology Assessment (HTA) methodology due to the need to formulate evidence-based recommendations in times of uncertainty in minimal time - for a large number of publications and with changing or even contradictory information. Living systematic reviews (LSRs) are systematic reviews that are continually updated, incorporating relevant new evidence as it becomes available. Since the COVID-19 pandemic fits all criteria to perform LSRs: (i) the Review question is a particular priority for decision-making, (ii) there is an high level of uncertainty about the existing evidence, and (iii) there is likely to be emerging evidence that will impact on the conclusions of the LSR, the aim of which is to analyze the role of LSRs as an innovative approach to HTA in recent years, and its impact on the management of the pandemic.MethodsA systematic search of LSRs (published or protocols) was run on the main biomedical databases (Medline, Embase and Cochrane Library) in November 2020 and it was rerun in June 2021 without time limit. The results will be analyzed and classified by year and category (epidemiology, treatment, prognosis, symptoms, diagnosis and vaccines).ResultsThe literature research has returned a total of 187 publications. The LSR concept emerged in 2014, from which some LSRs began to be published, but an exponential increase has been observed in 2020 with 76 references of which 66 percent were focused on the SARS-CoV-2. By category, 81.8 percent were focused on treatment, 41.8 percent on epidemiology, 20.9 percent on rehabilitation, 15.1 percent on diagnosis, 10.2 percent on prognosis and 2.2 percent on symptoms until June 2021. There wasn't any LSR for vaccines and 28 percent was focused on other fields.ConclusionsLSRs are particularly important during the COVID-19 pandemic, with research evidence emerging rapidly, current evidence being uncertain, and new research changing policy or decisions on health. The majority of LSRs published up to June 2021 were focused on the treatment of COVID-19.