Abstract
This review should be seen as a practical tool, one which we hope illustrates potential routes to follow when seeking to implement or lobby for severe combined immunodeficiency newborn screening (SCID NBS) at a national or regional level. Experience has shown that there are country- and region-wide variations in terms of awareness of the need for SCID NBS and the processes required to demonstrate and prove the importance of SCID NBS. This guide therefore aims to share experiences and equip readers with evidence while also directing them to key further reading and resources that provide support, data, and existing frameworks that are relevant to making the case for mandatory NBS for SCID.
Highlights
This guide has been put together for all those with an interest in seeking population-based screening for severe combined immunodeficiency (SCID) introduced as a mandatory part of national newborn disease screening practices. It offers top-line practical tips, pointers, and experiences that are valuable to understanding the need for SCID newborn screening (NBS) and to helping those involved in lobbying, campaigning, and seeking to implement or gain agreement for SCID NBS in European settings
In Germany for example, it was through discussions with health insurers that NBS clinicians came to understand that decisions are made by the Gemeinsamer Bundesausschuss (GBA)—an agency that defines NBS directives, and by the Institute for Quality and Efficiency in Health Care (IQWIG)—an institute that considers the economic case for health interventions and conducts their own independent evaluation of proposed projects
The cost and cost effectiveness of SCID NBS often has to be demonstrated to government ministries and payers as part of the argument
Summary
This guide has been put together for all those with an interest in seeking population-based screening for severe combined immunodeficiency (SCID) introduced as a mandatory part of national newborn disease screening practices. Population-based newborn screening (NBS) is recognised as a successful method of diagnosing a number of serious clinical conditions. We know that early HSCT can be curative and offers long-term disease correction, reducing morbidity and mortality and improving quality of life of children with SCID. Compared with many diseases screened for today in NBS panels, SCID is potentially curable if recognised and treated early. Screening aims to find infants with low T-cells without delay, with the purpose of avoiding harm from otherwise beneficial health interventions (such as immunisation with live attenuated rotavirus or BCG) and identifying infants with SCID who could benefit from HSCT. Since introducing NBS in this state, SCID patient overall survival has reached 95%
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