The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices

Sheller, Ruthanne; Ojodu, Jelili; Griffin, Emma; Edelman, Sari; Yusuf, Careema; Pigg, Trey; Huston, Alissa; Fitzek, Brian; Boyle, John G; Singh, Sikha

doi:10.3389/fimmu.2020.577853

Cited by 6 publications

(5 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…By 2019, all states, almost all provinces, and at least 20 countries had included some version of SCID and other T-cell lymphocyte deficiencies (a secondary RUSP target) in their NBS program (often supported by the Jeffrey Modell Foundation) [ 55 ]. A 2020 report reviewed the status of USA NBS for SCID, including methodologies and follow-up practices [ 56 ], and a 2021 review analyzed the way that SCID NBS has changed the disorder presentation and provided important lessons for public health programs, immunologists, and transplant specialists globally [ 57 ]. A review of the history of SCID NBS discussing SCID subtypes, T-cell receptor excision circle (TREC) assay limitations, and diagnostic/management considerations for infants with a positive NBS was published in 2021 [ 58 ], and in 2022, a report reviewed the success of molecular NBS for SCID and the ability of NBS to determine the SCID population prevalence [ 59 ].…”

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

View full text Add to dashboard Cite

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

show abstract

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

View full text Add to dashboard Cite

show abstract

“…Only the systematic long-term follow-up for children detected through NBS enables the evaluation of the true NBS benefits for those affected, their families, and society [ 10 , 33 , 35 , 81 , 122 , 158 , 163 , 164 ]. Long-term follow-up is particularly important for mild disease variants with unclear treatment benefits [ 18 , 88 , 165 , 166 ].…”

Section: Resultsmentioning

confidence: 99%

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

Odenwald¹,

Brockow²,

Hanauer³

et al. 2023

IJNS

View full text Add to dashboard Cite

Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early treatment through NBS. However, as with any other screening, NBS can also cause harm, and the principle that “the overall benefits of screening should outweigh the harms” must be considered when introducing and implementing NBS programmes. This publication compiles the results of a systematic literature research on requirements for NBS infrastructure and procedures which was conducted as part of a research project on the quality and shortcomings of the NBS pathway in Germany. The compilation contains the requirements and recommendations for realising the principle of “maximise benefits and minimise harms” in relevant NBS pathway components such as parental education and information, coverage, timeliness, laboratory quality assurance, follow-up of abnormal results, confirmatory diagnostics, documentation, and evaluation. The results reflect the complexity of NBS infrastructure, and thus, they illustrate the importance of considering and implementing NBS as a well-coordinated public health programme with continuous quality management. Special attention should be paid to the perspectives of parents and families. Some NBS issues can substantially benefit from digital instruments or international cooperation. The literature review presented here has contributed to a concept of proposals for the advancement of NBS in Germany, and despite different settings, it may as well be of interest for other countries to achieve the best possible course and outcome of NBS for each child.

show abstract

“…Patients with severe IEIs require hematopoietic cell transplantation or other curative approaches, with earlier intervention resulting in better outcomes (Bakhtiar et al, 2021; Bergsten et al, 2020; Burroughs et al, 2020; Chiesa et al, 2020; Lucchini et al, 2018). Measuring T cell receptor excision circles (TRECs) and kappa-deleting element recombination circles (KRECs) in DBS samples can identify patients with T and B cell lymphopenias, respectively, and facilitates early treatment intervention and reduction of overall medical costs (Borte et al, 2012; Chan and Puck, 2005; Elsink et al, 2020; King et al, 2021; Nakagawa et al, 2011; Sheller et al, 2020). These results indicate that feasible NBS-based methods to detect other severe IEIs could improve patient outcomes.…”

Section: Discussionmentioning

confidence: 99%

A Non-targeted Proteomics Newborn Screening Platform for Genetic Disorders

Shibata,

Nakajima,

Konno

et al. 2024

Preprint

View full text Add to dashboard Cite

Newborn screening using dried blood spot (DBS) samples has made a substantial contribution to public healthcare by detecting patients with genetic disorders as neonates. Targeted measurements of nucleic acids and metabolites have played major roles in newborn screening to date, while the feasibility of new non-targeted approaches, including genome-wide DNA sequencing, has been explored. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to newborn screening for genetic diseases. DBS protein profiling allowed monitoring of levels of proteins encoded by 2912 genes, including 1106 listed in the Online Mendelian Inheritance in Man database, in healthy newborn samples, and was useful in identifying patients with inborn errors of immunity by detecting reduced levels of disease causative proteins and cell-phenotypical alterations. Our results indicate that application of non-targeted quantitative protein profiling of DBS samples can forge a new path in screening for genetic disorders.

show abstract

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices

Cited by 6 publications

References 11 publications

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures

A Non-targeted Proteomics Newborn Screening Platform for Genetic Disorders

Contact Info

Product

Resources

About