Translating Molecular Technologies into Routine Newborn Screening Practice

Overview

Journal Int J Neonatal Screen

Date 2020 Oct 30

PMID 33124618

Citations 21

Authors

Sarah M Furnier

Maureen S Durkin

Mei W Baker

Affiliations

Soon will be listed here.

Abstract

As biotechnologies advance and better treatment regimens emerge, there is a trend toward applying more advanced technologies and adding more conditions to the newborn screening (NBS) panel. In the current Recommended Uniform Screening Panel (RUSP), all conditions but one, congenital hypothyroidism, have well-defined genes and inheritance patterns, so it is beneficial to incorporate molecular testing in NBS when it is necessary and appropriate. Indeed, the applications of molecular technologies have taken NBS to previously uncharted territory. In this paper, based on our own program experience and what has been reported in the literature, we describe current practices regarding the applications of molecular technologies in routine NBS practice in the era of genomic and precision medicine.

Citing Articles

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

Therrell B, Padilla C, Borrajo G, Khneisser I, Schielen P, Knight-Madden J Int J Neonatal Screen. 2024; 10(2).

PMID: 38920845 PMC: 11203842. DOI: 10.3390/ijns10020038.

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.

Linga B, Mohammed S, Farrell T, Rifai H, Al-Dewik N, Qoronfleh M Cancers (Basel). 2024; 16(11).

PMID: 38893137 PMC: 11171256. DOI: 10.3390/cancers16112017.

Racial inequities and rare variants: Impact on cystic fibrosis diagnosis and treatment.

Wu M, Davis J, Zhao C, Daley T, Oliver K J Clin Transl Endocrinol. 2024; 36:100344.

PMID: 38765466 PMC: 11099334. DOI: 10.1016/j.jcte.2024.100344.

Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.

van den Heuvel L, van der Pal S, Verschoof-Puite R, Klapwijk J, Elsinghorst E, Dekkers E Int J Neonatal Screen. 2024; 10(1).

PMID: 38535122 PMC: 10971090. DOI: 10.3390/ijns10010018.

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

Veldman A, Kiewiet M, Westra D, Bosch A, Brands M, de Coo R Int J Neonatal Screen. 2023; 9(4).

PMID: 37873847 PMC: 10594494. DOI: 10.3390/ijns9040056.

References

Argudo-Ramirez A, Martin-Nalda A, Marin-Soria J, Lopez-Galera R, Pajares-Garcia S, Gonzalez de Aledo-Castillo J . First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain). Front Immunol. 2019; 10:2406. PMC: 6818460. DOI: 10.3389/fimmu.2019.02406. View

Douek D, McFarland R, KEISER P, Gage E, Massey J, Haynes B . Changes in thymic function with age and during the treatment of HIV infection. Nature. 1999; 396(6712):690-5. DOI: 10.1038/25374. View

Strauss K, Carson V, Soltys K, Young M, Bowser L, Puffenberger E . Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes. Mol Genet Metab. 2020; 129(3):193-206. DOI: 10.1016/j.ymgme.2020.01.006. View

Baker M, Atkins A, Cordovado S, Hendrix M, Earley M, Farrell P . Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study. Genet Med. 2015; 18(3):231-8. PMC: 4802962. DOI: 10.1038/gim.2014.209. View

. CDC Grand Rounds: Newborn screening and improved outcomes. MMWR Morb Mortal Wkly Rep. 2012; 61(21):390-3. View

Ye S, Dhillon S, Ke X, Collins A, Day I . An efficient procedure for genotyping single nucleotide polymorphisms. Nucleic Acids Res. 2001; 29(17):E88-8. PMC: 55900. DOI: 10.1093/nar/29.17.e88. View

Scully M, Farrell P, Ciafaloni E, Griggs R, Kwon J . Cystic fibrosis newborn screening: a model for neuromuscular disease screening?. Ann Neurol. 2014; 77(2):189-97. DOI: 10.1002/ana.24316. View

Baker M, Grossman W, Laessig R, Hoffman G, Brokopp C, Kurtycz D . Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol. 2009; 124(3):522-7. DOI: 10.1016/j.jaci.2009.04.007. View

Barbaro M, Ohlsson A, Borte S, Jonsson S, Zetterstrom R, King J . Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. J Clin Immunol. 2016; 37(1):51-60. PMC: 5226987. DOI: 10.1007/s10875-016-0347-5. View

10.

Zerres K, Rudnik-Schoneborn S . Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995; 52(5):518-23. DOI: 10.1001/archneur.1995.00540290108025. View

11.

Chien Y, Chiang S, Weng W, Lee N, Lin C, Hsieh W . Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening. J Pediatr. 2017; 190:124-129.e1. DOI: 10.1016/j.jpeds.2017.06.042. View

12.

Gregg R, Wilfond B, Farrell P, Laxova A, Hassemer D, Mischler E . Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet. 1993; 52(3):616-26. PMC: 1682167. View

13.

Therrell Jr B, Lloyd-Puryear M, Camp K, Mann M . Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab. 2014; 113(1-2):14-26. PMC: 4177968. DOI: 10.1016/j.ymgme.2014.07.009. View

14.

Ranieri E, Ryall R, Morris C, Nelson P, Carey W, Pollard A . Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis. BMJ. 1991; 302(6787):1237-40. PMC: 1669924. DOI: 10.1136/bmj.302.6787.1237. View

15.

Calucho M, Bernal S, Alias L, March F, Vencesla A, Rodriguez-Alvarez F . Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord. 2018; 28(3):208-215. DOI: 10.1016/j.nmd.2018.01.003. View

16.

Wilcken B . Newborn screening for cystic fibrosis: techniques and strategies. J Inherit Metab Dis. 2007; 30(4):537-43. DOI: 10.1007/s10545-007-0584-0. View

17.

Gantt S, Dionne F, Kozak F, Goshen O, Goldfarb D, Park A . Cost-effectiveness of Universal and Targeted Newborn Screening for Congenital Cytomegalovirus Infection. JAMA Pediatr. 2016; 170(12):1173-1180. DOI: 10.1001/jamapediatrics.2016.2016. View

18.

Strand J, Gul K, Erichsen H, Lundman E, Berge M, Tromborg A . Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency. Front Immunol. 2020; 11:1417. PMC: 7381310. DOI: 10.3389/fimmu.2020.01417. View

19.

Baker M, Griggs R, Byrne B, Connolly A, Finkel R, Grajkowska L . Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps. JAMA Neurol. 2019; 76(8):978-983. DOI: 10.1001/jamaneurol.2019.1206. View

20.

Puck J . Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J Allergy Clin Immunol. 2007; 120(4):760-8. DOI: 10.1016/j.jaci.2007.08.043. View