Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready?

Phornphutkul, Chanika; Padbury, Jamés F.

doi:10.1016/j.jpeds.2019.01.037

Cited by 4 publications

(2 citation statements)

References 5 publications

(10 reference statements)

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“…Newborn screening (NBS), an important and successful public health program, refers to the specific examination of inherited and congenital diseases that seriously threaten the health of newborns in the neonatal period [ 1 , 2 ]. NBS aims to improve long-term clinical outcomes by providing interventions for the early diagnosis and treatment of these diseases before the onset of symptoms in affected newborns [ 3 ]. Since the start of NBS in 1961, new methods have been continuously introduced into NBS, including the bacterial inhibition test for phenylketonuria (PKU) screening [ 4 ], the enzyme activity test for galactosemia screening [ 5 ], and the radioimmunoassay for congenital hypothyroidism (CH) screening [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

Yang

Qian

et al. 2023

World J Pediatr

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Background Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases. The development of next-generation sequencing (NGS) technology provides new opportunities to expand current newborn screening methodologies. Methods We designed a a newborn genetic screening (NBGS) panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS. With this panel, a large-scale, multicenter, prospective multidisease analysis was conducted on dried blood spot (DBS) profiles from 21,442 neonates nationwide. Results We presented the positive detection rate and carrier frequency of diseases and related variants in different regions; and 168 (0.78%) positive cases were detected. Glucose-6-Phosphate Dehydrogenase deficiency (G6PDD) and phenylketonuria (PKU) had higher prevalence rates, which were significantly different in different regions. The positive detection of G6PD variants was quite common in south China, whereas PAH variants were most commonly identified in north China. In addition, NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants, which were normal in conventional NBS, but were confirmed later as abnormal in repeated biochemical testing after recall. Eighty percent of high-frequency gene carriers and 60% of high-frequency variant carriers had obvious regional differences. On the premise that there was no significant difference in birth weight and gestational age, the biochemical indicators of SLC22A5 c.1400C > G and ACADSB c.1165A > G carriers were significantly different from those of non-carriers. Conclusions We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS methods. Our data also showed that the prevalence of diseases has significant regional characteristics, which provides a theoretical basis for screening diseases in different regions.

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Section: Introductionmentioning

confidence: 99%

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

Yang

Qian

et al. 2023

World J Pediatr

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“…Parents tend to be misinformed or uninformed and can feel overwhelmed by the process [12,[19][20][21]. The scientific community, while supportive of exploring GS for NBS, has expressed caution about the implementation of GS NBS and emphasized the importance of close examination of the full process before widespread implementation including ethical, legal, and social implications in studies of this process [22,23].…”

Section: Introductionmentioning

confidence: 99%

Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing

Timmins

Wynn

Saami

et al. 2022

Public Health Genomics

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Objective: The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing. Study Design: We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs. Results: All participants were interested in some degree of NBS expansion. However, there were differing opinions about the characteristics of conditions that should be included with less consensus for conditions with low penetrance, those without approved treatment, or onset outside of early childhood. All parents endorsed potential medical utility but also nonmedical utility as a motivating factor including being able to prepare and not being surprised by health issues as they occurred. Most felt that it was important to have some choice about the conditions screened, and many expressed the importance of proper education to make an informed choice and a desire to receive this education in the prenatal period. Responses to the type of education and information needed to make an informed decision varied. Conclusions: Parents anticipate value in expanded NBS through genomic sequencing both for medical and nonmedical/personal utility. In order to successfully implement expanded NBS, prospective parents need more and earlier education about the process. These needs may differ by language and culture. Information needs to be easily accessible and to be curated by appropriate experts and stakeholders, including parents representative of the diversity of the USA.

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