2023-09-06 17:37:00
Newborn Screening of Vitamin B12 Deficiency and Target Diseases: Preliminary Results Show Insufficient Evidence
The Federal Joint Committee (G-BA) has commissioned the Institute for Quality and Efficiency in Health Care (IQWiG) to assess the benefit or harm of early detection of vitamin B12 deficiency and other target diseases in extended newborn screening. However, the preliminary results have revealed that the available studies lack sufficient evidence to answer this question.
The target diseases in question include homocystinuria, propionic acidemia, and methylmalonic aciduria, which are metabolic diseases that have not yet been screened for in newborns in the country. These rare or very rare diseases can pose serious risks to the physical and mental development of newborns, potentially causing brain damage, seizures, coma, and damage to various organs.
The diagnosis of vitamin B12 deficiency and the other target diseases can be made using blood spotted on filter paper. In Germany, newborn screening is carried out by taking vein or heel blood between the 36th and 72nd hour of life and examining it for certain diseases. However, the target diseases highlighted in the IQWiG preliminary report have not been included in the current screening process. Nevertheless, a large pilot project called the “NGS 2020/NGS 2025” study, led by the University of Heidelberg, is already underway, focusing on these diseases.
The goal of including vitamin B12 deficiency and other target diseases in newborn screening is to identify and treat affected children as early as possible to prevent irreversible damage, especially to the brain. Currently, only eight out of the 47 European countries have implemented screening for at least one of the relevant target diseases, partially due to the specific prevalence of these diseases in their populations.
However, the preliminary findings indicate that the benefits of early detection remain unclear due to a lack of evidence. The IQWiG research team analyzed three studies comparing screening with no screening and 13 studies comparing early treatment with late treatment. Unfortunately, these studies did not provide substantial data to answer the question at hand, as only a small number of children were affected by the target diseases.
Moreover, the observational studies comparing early and late treatment were also inconclusive. There were various factors, such as age, disease severity, and patient selection, that differed between the two groups, making it difficult to determine the impact of the timing of treatment. Additionally, some of the studies referred to metabolic defects that are rarely observed in Germany.
In light of the insufficient evidence from the available studies, the benefits or harm of early detection of vitamin B12 deficiency and other target diseases remain uncertain. The IQWiG suggests that multinational research cooperation could be beneficial in investigating the advantages and disadvantages of early detection by comparing countries with and without screening.
The preliminary report is open for comments until October 5th, 2023. If any questions remain unanswered, respondents will be invited to participate in an oral discussion. The ultimate goal is to gather more comprehensive and reliable data to inform decision-making regarding the inclusion of vitamin B12 deficiency and target diseases in extended newborn screening.
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*Note: This news article is a summary of the content provided and does not represent the views or opinions of the Institute for Quality and Efficiency in Health Care (IQWiG) or any other organization mentioned.]
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