Newborn Screening

Bailey, Donald B.; Gehtland, Lisa M.

doi:10.1001/jama.2014.17488

Cited by 35 publications

(27 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…One alternative approach under recent discussion is the implementation of a two-tiered system whereby tests are mandated for conditions for which substantial benefits are clear, but consent is obtained for tests of less certain clinical utility. (*24)…”

Section: Parental Decision-making About Newborn Screeningmentioning

confidence: 99%

Ethical issues in pediatric genetic testing and screening

Botkin

2016

Current Opinion in Pediatrics

View full text Add to dashboard Cite

Purpose of the Review Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with increased precision and lower cost. These powerful technologies raise a number of ethical issues in pediatrics, primarily due to the frequent lack of clinical utility of genetic information, the generation of secondary results, and questions over the proper scope of parental authority for testing. Recent Findings Several professional organizations in the fields of genetics and pediatrics have published new guidance on the ethical, legal, and policy issues relevant to genetic testing in children. The roles of predictive testing for adult onset conditions, the management of secondary findings, and the role of informed consent for newborn screening remain controversial. However, research and experience are not demonstrating serious adverse psychosocial impacts from genetic testing and screening in children. The use of these technologies is expanding with the notion of personal utility of test results is considered sufficient to justify testing. Summary Use of microarray and genome sequencing technologies is expanding in the care of children. More deference to parental decision-making is evolving in contexts where information and counseling can be made readily available.

show abstract

Section: Parental Decision-making About Newborn Screeningmentioning

confidence: 99%

Ethical issues in pediatric genetic testing and screening

Botkin

2016

Current Opinion in Pediatrics

View full text Add to dashboard Cite

show abstract

“…Early identification of patients for other conditions could probably allow pre-symptomatic therapies in randomized studies. Additionally, the feasibility of the voluntary expansion of screening, providing the choice to families who want to know about other conditions, is already under debate 31 – 34 . Educational challenges in the training of health professionals and in information provided to the public should also be considered.…”

Section: Discussionmentioning

confidence: 99%

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases

Boemer

Fasquelle

d'Otreppe

et al. 2017

Sci Rep

View full text Add to dashboard Cite

The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted DNA but did not focus on the identification of specific disorders. We thus aimed to demonstrate that NGS was reliable for detecting pathogenic mutations on genomic material extracted from DBS. Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders. Blood was collected from DBS. Whole-exome sequencing was performed, and sequences were analyzed with a specific focus on genes related to NBS. Results were compared to the known pathogenic mutations previously identified by Sanger sequencing. Causal mutations were readily characterized, and multiple polymorphisms have been identified. According to variant database prediction, an unexplained homozygote pathogenic mutation, unrelated to patient’s disorder, was also found in one sample. While amount and quality of DBS-extracted DNA are adequate to identify causal mutations by NGS, bioinformatics analysis revealed critical drawbacks: coverage fluctuations between regions, difficulties in identifying insertions/deletions, and inconsistent reliability of database-referenced variants. Nevertheless, results of this study lead us to consider future perspectives regarding “next-generation” NBS.

show abstract

“…Researchers at the University of North Carolina are already working to classify conditions according to characteristics relevant to consent, resulting in such groupings as severe early childhood disorders, late onset disorders, disorders with moderate mental or physical symptoms, and predispositions to certain diseases. 27 The process of defining the bins for NBS informed consent would benefit from the expertise and cooperation of professional societies, such as ACMG, the National Society of Genetic Counselors, and the American Academy of Pediatrics, as well as input from patient organizations regarding the most effective way of informing parents of their choices. Parents could receive standardized information on these panels of conditions, choose what genes should be analyzed and reported, and decide what to do with the balance of raw data.…”

Section: Options For Using Wgsmentioning

confidence: 99%

Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs

King

Smith

2016

Pediatrics

View full text Add to dashboard Cite

State newborn screening (NBS) programs routinely screen nearly all of the 4 million newborns in the United States each year for ~30 primary conditions and a number of secondary conditions. NBS could be on the cusp of an unprecedented expansion as a result of advances in whole-genome sequencing (WGS). As WGS becomes cheaper and easier and as our knowledge and understanding of human genetics expand, the question of whether WGS has a role to play in state NBS programs becomes increasingly relevant and complex. As geneticists and state public health officials begin to contemplate the technical and procedural details of whether WGS could benefit existing NBS programs, this is an opportune time to revisit the legal framework of state NBS programs. In this article, we examine the constitutional underpinnings of state-mandated NBS and explore the range of current state statutes and regulations that govern the programs. We consider the legal refinements that will be needed to keep state NBS programs within constitutional bounds, focusing on 2 areas of concern: consent procedures and the criteria used to select new conditions for NBS panels. We conclude by providing options for states to consider when contemplating the use of WGS for NBS.

show abstract

Newborn Screening

Cited by 35 publications

References 6 publications

Ethical issues in pediatric genetic testing and screening

Ethical issues in pediatric genetic testing and screening

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases

Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs

Contact Info

Product

Resources

About