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Genetics in Medicine : Official Journal... Mar 2016
Topics: Genetic Predisposition to Disease; Genome, Human; Humans; Infant, Newborn; Neonatal Screening; Precision Medicine; Sequence Analysis, DNA
PubMed: 26681311
DOI: 10.1038/gim.2015.172 -
Journal of Clinical Pathology Jun 1993
Topics: Congenital Hypothyroidism; Humans; Hypothyroidism; Infant, Newborn; Neonatal Screening; Phenylketonurias; United Kingdom
PubMed: 8331169
DOI: 10.1136/jcp.46.6.497 -
Medecine Sciences : M/S Oct 2015An extension of newborn screening to genome sequencing is now feasible but raises a number of scientific, organisational and ethical issues. This is being explored in...
An extension of newborn screening to genome sequencing is now feasible but raises a number of scientific, organisational and ethical issues. This is being explored in discussions and in several funded trials, in order to maximize benefits and avoid some identified risks. As some companies are already offering such a service, this is quite an urgent matter.
Topics: DNA Mutational Analysis; Dried Blood Spot Testing; Europe; Genetic Testing; Genome-Wide Association Study; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Neonatal Screening; Practice Guidelines as Topic; United States
PubMed: 26481033
DOI: 10.1051/medsci/20153110020 -
Current Opinion in Pediatrics Dec 2016Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with... (Review)
Review
PURPOSE OF 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 because of 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 that the personal utility of test results, rather than clinical utility, may be sufficient to justify testing.
SUMMARY
The use of microarray and genome sequencing technologies is expanding in the care of children. More deference to parental decision-making is evolving in contexts wherein information and counseling can be made readily available.
Topics: Child; Genetic Testing; Humans; Infant, Newborn; Neonatal Screening; Parental Consent
PubMed: 27606958
DOI: 10.1097/MOP.0000000000000418 -
North Carolina Medical Journal 2019Newborn screening in North Carolina has been highly successful, identifying newborns with health conditions for which time-sensitive treatments must be provided to...
Newborn screening in North Carolina has been highly successful, identifying newborns with health conditions for which time-sensitive treatments must be provided to reduce morbidity and mortality. This issue of the describes the history of newborn screening in the state, the nature of the system that must be in place for newborn screening to work as planned, and the leadership exemplified by North Carolina, both historically and now. Here we highlight some of the major challenges that newborn screening will almost surely face in the coming years. We argue that these challenges offer opportunities to advance the health of newborns in significant ways, and that partnerships among public health, the medical community, researchers, patient advocacy groups, and industry will be needed to address the complex issues that are emerging.
Topics: Achievement; Forecasting; Humans; Infant, Newborn; Interinstitutional Relations; Neonatal Screening; North Carolina
PubMed: 30622201
DOI: 10.18043/ncm.80.1.28 -
Health Technology Assessment... 1997OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs... (Review)
Review
OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs and benefits of introducing screening based on tandem mass-spectrometry (tandem MS) for a wide range of disorders of amino acid and organic acid metabolism in the UK. To evaluate screening for cystic fibrosis, Duchenne muscular dystrophy and other disorders which are tested on an individual basis. HOW THE RESEARCH WAS CONDUCTED. Systematic searches were carried out of the literature on inborn errors of metabolism, neonatal screening programmes, tandem MS-based neonatal screening technology, economic evaluations of neonatal screening programmes and psychological aspects of neonatal screening. Background material on the biology of inherited metabolic disease, the basic philosophy, and the history and current status of the UK screening programme was also collected. Relevant papers in the grey literature and recent publications were identified by hand-searching. Each paper was graded. For each disease an aggregate grade for the state of knowledge in six key areas was awarded. Additional data were prospectively collected on activity and costs in UK neonatal screening laboratories, and expert clinical opinion on current treatment modalities and outcomes. These data were used to construct a decision-analysis model of neonatal screening technologies, comparing tandem MS with the existing phenylketonuria screening methods. This model determined the cost per additional case identified and, for each disease, the additional treatment costs per case, and the cost per life-year saved. All costs and benefits were discounted at 6% per annum. One-way sensitivity analysis was performed showing the effect of varying the discount rate, the incidence rate of each disorder, the number of neonates screened and the cost of tandem MS, on the cost per life-year gained. RESEARCH FINDINGS. The UK screening programmes for phenylketonuria and congenital hypothyroidism have largely achieved the expected objectives and are cost-effective. Current concerns are the difficulty of maintaining adequate coverage, perceived organisational weaknesses, and a lack of overview. For many of the organic acid disorders it was necessary to rely on data obtained from clinically-diagnosed cases. Many of these diseases can be treated very effectively and a sensitive screening test was available for most of the diseases. Except for cystic fibrosis, there have been no randomised controlled trials of the overall effectiveness of neonatal screening. Despite the anxiety generated by the screening process, there is strong parental support for screening. The effects of diagnosis through screening on subsequent reproductive behaviour is less clear. Conflicts exist between current concepts and the traditional principles of screening. The availability of effective treatment is not an absolute prerequisite: early diagnosis is of value to the family concerned and, to the extent that is leads to increased use of prenatal diagnosis, may help to reduce the overall burden of disease. Neonatal screening is also of value in diseases which present early but with non-specific symptoms. Indeed, almost all of the diseases considered could merit neonatal screening. The majority of economic evaluations failed to incorporate the health benefits from screening, and therefore failed to address the value of the information which the screening programmes provided to parents. The marginal cost of changing from present technology to tandem MS would be approximately 0.60 pounds per baby at a workload of 100,000 samples a year, and 0.87 pounds at 50,000 samples per year. The ability to screen for a wider range of diseases would lead to the identification of some 20 additional cases per 100,000 infants screened, giving a laboratory cost per additional diagnosis of 3000 pounds at an annual workload of 100,000 babies per year.(ABSTRACT TRUNCATED)
Topics: Cost-Benefit Analysis; Health Care Costs; Health Services Research; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Outcome Assessment, Health Care; Risk Assessment; Sensitivity and Specificity; State Medicine; United Kingdom
PubMed: 9483160
DOI: No ID Found -
European Journal of Endocrinology Nov 2017When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid-stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening... (Review)
Review
When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid-stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20-50 U/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased prevalence of detected CH. However, a consensus on the benefit deriving from lowering TSH cutoffs at screening is lacking. The present paper outlines arguments both for and against the lowering of TSH cutoffs at NBS. It includes a review of recently published evidence from Australia, Belgium and Italy. A section focused on economic implications of lowering TSH cutoffs is also provided. One issue that bears further examination is the extent to which mild iodine deficiency at the population level might affect the association of neonatal TSH values with cognitive and developmental outcomes. A debate on TSH cutoffs provides the opportunity to reflect on how to make NBS for CH more effective and to guarantee optimum neurocognitive development and a good quality of life to babies with mild as well as with severe CH. All authors of this debate article agree on the need to establish optimal TSH cutoffs for screening programs in various settings and to ensure the benefits of screening and access to care for newborns worldwide.
Topics: Congenital Hypothyroidism; Europe; Humans; Infant, Newborn; Neonatal Screening; Practice Guidelines as Topic; Thyrotropin
PubMed: 28694389
DOI: 10.1530/EJE-17-0107 -
Biomedica : Revista Del Instituto... Mar 2019Introduction: Thinking about how neonatal screening should be done requires explaining the relevance of the bioethical factors involved. Objective: To understand the... (Comparative Study)
Comparative Study
Introduction: Thinking about how neonatal screening should be done requires explaining the relevance of the bioethical factors involved. Objective: To understand the relationship between bioethical considerations and the way neonatal screening is done and to identify its relevance in the Colombian legislation. Materials and methods: A comparative study of public policies in the United States and the United Kingdom was done, as they exemplify extreme cases of neonatal screening. The influence of bioethical principles was interpreted based on similarities and differences. With this information, locally affected bioethical considerations were identified in the Colombian legislation on neonatal screening. Results: In the United Kingdom, paternal autonomy prevails allowing parents to deny obligatory beneficence. In the USA, beneficence prevails and a significant number of anomalies must be screened for. This increases the likelihood of false positives and causes a high opportunity cost. Both countries have similarities which are also partially accepted in Colombia, such as the demand for equity of access. Others, such as specialized professional advice or the right to refuse screening, are not considered in the Colombian legislation on neonatal screening. Additionally, there are circumstances in Colombia such as different perspectives on what respecting justice means and how to apply that in choosing which abnormalities are screened for and lack of harmony between norms that prevents efficacious detection. Conclusion: Bioethical considerations explain the differences between countries and sometimes prevail in the development of public policies on neonatal screening. Their inclusion in high-level norms in Colombia for effective screening is proposed.
Topics: Bioethical Issues; Colombia; Humans; Infant, Newborn; Neonatal Screening; Public Policy; United Kingdom; United States
PubMed: 31021553
DOI: 10.7705/biomedica.v39i1.3906 -
Genetics in Medicine : Official Journal... Jun 2019In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the... (Review)
Review
In the past 20 years, several policy activities were undertaken that shaped today's newborn screening (NBS) programs and their associated NBS research activities: the Newborn Screening Task Force Report; the Child Health Act of 2000, Screening for Heritable Disorders; the American College of Medical Genetics and Genomics' (ACMG's) Newborn Screening Uniform Panel; and the ACMG expert panel to examine the development of a national collaborative study system for rare genetic diseases. These activities helped conceptualize the Newborn Screening Translational Research Network (NBSTRN) infrastructure and lay the foundation for its current activities. After 10 years, NBSTRN has grown into an organization that provides tools and resources for researchers to conduct research relevant to NBS programs for rare diseases for which data has been siloed locally. Infrastructure includes tools for the analytical and clinical validation of screening tests; the collection, analysis, sharing, and reporting of longitudinal laboratory and clinical data on newborn-screened individuals; and a web-based tool that allows researchers to acquire dried blood spots available for use in research from state NBS programs. NBSTRN also provides tools for researchers such as informed consent templates, disease registries, state NBS profiles, and consultation on planning pilot studies. In time, the growing data will become a resource itself.
Topics: Female; Humans; Infant, Newborn; Male; Neonatal Screening; Rare Diseases; Translational Research, Biomedical; United States
PubMed: 30393376
DOI: 10.1038/s41436-018-0334-8 -
Brazilian Journal of Otorhinolaryngology 2014Newborn hearing screening has as its main objective the early identification of hearing loss in newborns and infants. In order to guarantee good results, quality... (Review)
Review
INTRODUCTION
Newborn hearing screening has as its main objective the early identification of hearing loss in newborns and infants. In order to guarantee good results, quality indicators for newborn hearing screening programs are used as benchmarks.
OBJECTIVE
To observe and describe the reality of national newborn hearing screening programs in Brazil, and to evaluate if they can be referred to as having quality indicators.
METHODS
Integrative literature review in databases such as MEDLINE, LILACS, SciELO, and Google.
RESULTS
22 articles were analyzed in relation to newborn hearing screening coverage, the place and period newborn hearing screening was performed, initial results, referral to diagnostic procedures, loss to follow-up, and occurrence of hearing loss.
CONCLUSION
Transient otoacoustic emissions were the most often used screening methodology. Coverage varied widely, and only a few maternity wards achieved 95% of the cases screened. Referral to diagnostic procedures was under 4%, but lack of adherence can be considered a barrier to successful follow-up. The occurrence of hearing loss ranged from 0% to 1.09%. The involvement of government, physicians, and society is necessary, so that the goals of newborn hearing screening can be achieved.
Topics: Brazil; Hearing Loss; Hearing Tests; Hospitals, Maternity; Humans; Infant, Newborn; Neonatal Screening; Program Evaluation
PubMed: 25183186
DOI: 10.1016/j.bjorl.2014.05.005