Genomic Sequencing in Newborn Screening Programs

JAMA ◽  
2012 ◽  
Vol 307 (20) ◽  
Author(s):  
Siri Atma W. Greeley ◽  
Michael E. Msall ◽  
Kruti Acharya
Keyword(s):  
Newborn Screening ◽  
Genomic Sequencing ◽  
Screening Programs

Genomic Sequencing in Newborn Screening Programs

JAMA ◽  
2012 ◽  
Vol 307 (20) ◽  
Author(s):  
Wybo J. Dondorp ◽  
Guido M. W. R. de Wert ◽  
Martinus F. Niermeijer
Keyword(s):  
Newborn Screening ◽  
Genomic Sequencing ◽  
Screening Programs

Genomic Sequencing in Newborn Screening Programs—Reply

JAMA ◽  
2012 ◽  
Vol 307 (20) ◽  
Author(s):  
Aaron J. Goldenberg ◽  
Richard R. Sharp
Keyword(s):  
Newborn Screening ◽  
Genomic Sequencing ◽  
Screening Programs

Newborn Screening in the United States: Ethical Issues

2019 ◽  
pp. 652-663
Author(s):  
Michelle Huckaby Lewis ◽  
Jeffrey R. Botkin
Keyword(s):  
United States ◽  
Newborn Screening ◽  
Ethical Issues ◽  
New Technology ◽  
The United States ◽  
Genomic Sequencing ◽  
Newborn Period ◽  
Blood Samples ◽  
Screening Programs ◽  
Secondary Use

The purpose of newborn screening is to identify and treat infants with certain conditions prior to the onset of symptoms in order to reduce morbidity and mortality. The development of new technology, including genomic sequencing, has expanded the number of conditions that can be detected in the newborn period. Whether infants should be screened for conditions for which there is no available treatment is a subject of debate. The retention and secondary use of de-identified residual newborn screening dried blood samples without explicit parental permission have been controversial. In light of these challenges, some question whether mandatory newborn screening continues to be justified. This chapter will explore key ethical issues faced by state newborn screening programs in the United States.

scholarly journals Return of Results from Research Using Newborn Screening Dried Blood Samples

2015 ◽  
Vol 43 (3) ◽  
pp. 559-568
Author(s):  
Michelle Huckaby Lewis ◽  
Aaron J. Goldenberg
Keyword(s):  
Newborn Screening ◽  
Clinical Relevance ◽  
Return Of Results ◽  
Genomic Sequencing ◽  
Ongoing Debate ◽  
Blood Samples ◽  
Research Results ◽  
Screening Programs ◽  
Research Participants ◽  
The Impact

Whether research results should be returned to participants has been an ongoing debate in the research and bioethics communities for years. The debate has become more complicated as advances in technology permit the discovery through genomic sequencing of a growing number of findings that may or may not have clinical relevance for research participants. As part of the larger conversation regarding whether and under what circumstances research results should be returned to participants, research conducted using residual newborn screening dried blood samples (DBS) deserves special consideration due to the nature of newborn screening, the recent controversy regarding the retention and use of DBS, and the impact of this controversy on state newborn screening programs.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals Newborn Screening for Congenital Hypothyroidism in Japan

2021 ◽  
Vol 7 (3) ◽  
pp. 34
Author(s):  
Kanshi Minamitani
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Failure To Thrive ◽  
Thyroid Stimulating Hormone ◽  
Low Birth Weight Infants ◽  
Term Infants ◽  
Screening Programs ◽  
Screening Strategies

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.

PP58 The Alliance Between Health Technology Assessment And Public Health In National Screening Policies

2019 ◽  
Vol 35 (S1) ◽  
pp. 48-48
Author(s):  
Leonor Varela-Lema ◽  
Janet Puñal-Riobóo ◽  
Paula Cantero-Muñoz ◽  
Maria José Faraldo-Vallés
Keyword(s):  
Public Health ◽  
Decision Making ◽  
Newborn Screening ◽  
Health Technology Assessment ◽  
Technology Assessment ◽  
National Health System ◽  
Health Technology ◽  
Screening Tests ◽  
Special Focus ◽  
Screening Programs

IntroductionDecision making regarding national population-based prenatal and newborn screening policies is recognized to be highly challenging. This paper aims to describe the formalized collaboration that has been established between the Spanish National Public Health Screening Advisory Committee (PHSAC) and the Spanish Network of Health Technology Assessment (HTA) agencies to support the development of evidence- and consensus-based recommendations to support this process.MethodsIn-depth description and analysis of the strategic and methodological processes that have been implemented within the Spanish National Health System prenatal and newborn screening frameworks, with special emphasis on the role, actions, and responsibilities of HTA agencies.ResultsThe role of HTA agencies is threefold: (i) support the PHSAC by providing evidence on safety, effectiveness and cost/effectiveness of the screening tests/strategies, as well as contextualized information regarding costs, organizational, social, legal and ethical issues; (ii) collaborate with the PHSAC in the development of formal evidence- and consensus-based recommendations for defining population screening programs, when required; (iii) analyze real-world data that is generated by piloted programs. This paper will provide real-life examples of how these processes were implemented in practice, with a special focus on the development of the non-invasive prenatal testing (NIPT) policy. Recommendations for NIPT were developed by a multidisciplinary group based on the European network for Health Technology Assessment (EUnetHTA) rapid assessment report and the predictive models that were built using national statistics and other contextualized data.ConclusionsThe current work represents an innovative approach for prenatal and newborn screening policymaking, which are commonly difficult to evaluate due to the low quality of evidence and the confounding public health issues. The paper raises awareness regarding the importance of joint collaborations in areas where evidence is commonly insufficient for decision making.

Current and future perspective of newborn screening: an Indian scenario

2016 ◽  
Vol 29 (1) ◽  
Author(s):  
Gurjit Kaur ◽  
Kiran Thakur ◽  
Sandeep Kataria ◽  
Teg Rabab Singh ◽  
Bir Singh Chavan ◽  
...  
Keyword(s):  
Health Care ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Health Care System ◽  
Congenital Hypothyroidism ◽  
G6pd Deficiency ◽  
Metabolic Disorders ◽  
Adrenal Hyperplasia ◽  
Screening Programs ◽  
Care System

AbstractNewborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate.In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency.Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on the basis of region-wise prevalence. The objective of this review is to provide insight toward present scenario of newborn screening in India along with recommendations to combat the hurdles in the pathway of mandatory newborn screening.

Issues in State Newborn Screening Programs

PEDIATRICS ◽  
1992 ◽  
Vol 90 (4) ◽  
pp. 641-646 ◽  
Author(s):  
ELLEN WRIGHT CLAYTON
Keyword(s):  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Medical Literature ◽  
Biotinidase Deficiency ◽  
New Techniques ◽  
Genetic Characteristics ◽  
Screening Programs ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Grand Rounds

These are heady times for newborn screening. Articles in the medical literature and speakers at grand rounds urge us to test babies for disorders, including cystic fibrosis,1 biotinidase deficiency,2 and medium-chain acyl coenzyme A dehydrogenase deficiency.3 States are expanding the batteries of tests they perform. My own state of Tennessee just began testing neonates for galactosemia this year. And this is no doubt just the beginning. New techniques are being developed that will make it possible to look for a host of genetic characteristics using microscopic amounts of blood. We soon may be able to discern many conditions and characteristics of our children.

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