Inequities in newborn screening: Race and the role of medicaid☆

Sohn, Heeju; Timmermans, Stefan

doi:10.1016/j.ssmph.2019.100496

Cited by 9 publications

(12 citation statements)

References 23 publications

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“…From a public health perspective, experts and policymakers have opted that newborn and carrier screening should be conducted as a state-run program [100,101]. This will allow early detection of genetic conditions and congenital disorders, leading to reduced health disparities and mortality at a young age [102,103].…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Mezzi

Messaoud

Mkaouar

et al. 2021

Genes

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Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.

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Section: Discussionmentioning

confidence: 99%

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Mezzi

Messaoud

Mkaouar

et al. 2021

Genes

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“…We found that Group 1 had lower SES based on several measures. The association between Medicaid insurance and poorer nutrition outcomes should be interpreted in the context of the Medicaid program's role of insuring children with lower SES; Medicaid has unequivocally reduced infant mortality for disorders detected by NBS [57] . Other factors associated with low SES are likely to contribute to worse health outcomes.…”

Section: Article In Pressmentioning

confidence: 99%

Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening

McColley¹,

Martiniano²,

Ren³

et al. 2023

Journal of Cystic Fibrosis

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“…Government policies also affect the ability of families to access treatments. Analysis of birth and death data over the period of the institution of Medicaid and the timing of NBS mandates show that NBS is associated with improvements in infant mortality in States with Medicaid [ 51 ]. And in contrast, NBS mandates were not linked to significant declines in infant mortality in States without Medicaid, indicating the importance of access to health care and treatments.…”

Section: Evolution Of Nbs Services Screening Tools Research Infrastru...mentioning

confidence: 99%

The Progress and Future of US Newborn Screening

Watson

Lloyd-Puryear

Howell

2022

IJNS

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Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding and policies. With the current explosion of clinical trials of treatments for rare diseases, the pressure for expansion has grown, and concerns about the capacity for improvement and growth are being expressed. Genome and exome sequencing (GS/ES) have now opened more opportunities for early identification and disease prevention at all points in the lifespan. The greatest challenge facing NBS stems from the conditions most amenable to screening, and new treatment development is that we are screening for rare genetic diseases. In addition, understanding the spectrum of severity requires vast amounts of population and genomic data. We propose recommendations on improving the NBS system and addressing specific demands to grow its capacity by: better defining the criteria by which screening targets are established; financing the NBS system’s responsiveness to opportunities for expansion, including engagement and funding from stakeholders; creating a national quality assurance, data, IT, and communications infrastructure; and improving intra-governmental communications. While our recommendations may be specific to the United States, the underlying issues should be considered when working to improve NBS programs globally.

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Inequities in newborn screening: Race and the role of medicaid☆

Cited by 9 publications

References 23 publications

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening

The Progress and Future of US Newborn Screening

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