283 hot topic(s) found with the query "Newborn screening"
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024
(Posted: Apr 15, 2024 2PM)
From the abstract: " Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience."
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024 4
(Posted: Apr 09, 2024 8AM)
From the abstract: " Is early diagnosis through newborn screening associated with improved outcomes in infants with spinal muscular atrophy compared to those diagnosed after onset of symptoms? In this nonrandomized controlled trial within the SMARTCARE registry, patients identified by newborn screening showed better motor development with disease-modifying treatments than those who were diagnosed after onset of symptoms. These results offer supporting evidence for the benefit of newborn screening for spinal muscular atrophy. "
Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.
Charli Ji et al. Lancet Reg Health West Pac 2024 3 101049
(Posted: Apr 02, 2024 10AM)
From the abstract: "Participants included 50 caregivers and 26 HCPs (68.5% and 53.1% response rate respectively). Most caregivers (40/50, 80%) perceived net benefits of DMD NBS and highlighted an early diagnosis as actionable knowledge, even with the current paucity of disease modifying therapies. This knowledge was valued to enable access to multidisciplinary supportive care (29/50, 58%), clinical trials (27/50, 54%), psychological support (28/50, 56%), inform reproductive planning (27/50, 54%), and facilitate financial planning based on the future needs of their child (27/50, 54%). "
Birth Prevalence of Sickle Cell Disease and County-Level Social Vulnerability - Sickle Cell Data Collection Program, 11 States, 2016-2020.
Mariam Kayle et al. MMWR Morb Mortal Wkly Rep 2024 3 (12) 248-254
(Posted: Apr 02, 2024 10AM)
From the abstract: " Sickle cell disease (SCD) remains a public health priority in the United States because of its association with complex health needs, reduced life expectancy, lifelong disabilities, and high cost of care. A cross-sectional analysis was conducted to calculate the crude and race-specific birth prevalence for SCD using state newborn screening program records during 2016-2020 from 11 Sickle Cell Data Collection program states. The percentage distribution of birth mother residence within Social Vulnerability Index quartiles was derived. Among 3,305 newborns with confirmed SCD (including 57% with homozygous hemoglobin S or sickle ß-null thalassemia across 11 states, 90% of whom were Black or African American [Black], and 4% of whom were Hispanic or Latino), the crude SCD birth prevalence was 4.83 per 10,000 (one in every 2,070) live births and 28.54 per 10,000 (one in every 350) non-Hispanic Black newborns. "
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
C Tang et al, IJNS, March 2024
(Posted: Apr 02, 2024 9AM)
From the abstract: " We performed a multicenter study of 29,601 newborns from eight screening centers with NBS via NGS combined with MS/MS. A custom-designed panel targeting the coding region of the 142 genes of 128 inborn errors of metabolism (IEMs) was applied as a first-tier screening test, and expanded NBS using MS/MS was executed simultaneously. In total, 52 genes associated with the 38 IEMs screened by MS/MS were analyzed. The NBS performance of these two methods was analyzed and compared respectively. A total of 23 IEMs were diagnosed via NGS combined with MS/MS. The incidence of IEMs was approximately 1 in 1287. Within separate statistical analyses, the positive predictive value (PPV) for MS/MS was 5.29%, and the sensitivity was 91.3%. However, for genetic screening alone, the PPV for NGS was 70.83%, with 73.91% sensitivity. "
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows
K Raboin et al, IJNS, March 25, 2024
(Posted: Mar 27, 2024 1PM)
From the abstract: "The Connecticut Newborn Screening (NBS) Network, in partnership with the Connecticut Department of Public Health, strategically utilized the Epic electronic health record (EHR) system to establish registries for tracking long-term follow-up (LTFU) of NBS patients. After launching the LTFU registry in 2019, the Network obtained funding from the Health Resources and Services Administration to address the slow adoption by specialty care teams. "
Diagnosis and Management of Myotonic Dystrophy Type 1
J Hartman et al, JAMA March 11, 2024
(Posted: Mar 11, 2024 2PM)
From the article: " Myotonic dystrophy type 1 is the most common form of muscular dystrophy. A recent genetic prevalence study of 50?382 consecutive births from the New York state newborn screening program estimated prevalence to be approximately 1:2100 individuals. This estimate is substantially higher than previously reported global estimates, which ranged from 5 to 20 per 100?000 individuals.2 Additional prevalence studies are needed with representative populations in other regions of the world. In an analysis of 679 patients in a US registry, individuals with myotonic dystrophy type 1 had a 7-year delay from symptom onset to diagnosis."
Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate
LW ush et al, IJNS, February 2024
(Posted: Feb 06, 2024 1PM)
From the abstract: "We look to the past as prologue for guidance in predicting and circumventing potential psychosocial–ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developmental psychology as they intersect with newborn screening while exploring potential implications of positive findings, be they false positives, true positives, or secondary as well as incidental findings. We reflect on navigating the complex landscape that may be significantly impacted by variable phenotypes, the age of onset, and uncertain prognoses, mindful of the diagnostic odyssey continuum. "
Gene selection for genomic newborn screening: moving towards consensus?
L Downie et al, Genetics in Med, January 23, 2024
(Posted: Jan 23, 2024 8AM)
From the abstract: " We reviewed 1279 genes and 604 met our inclusion criteria. Metabolic conditions comprised the largest group (25%), followed by immunodeficiencies (21%) and endocrine disorders (15%). We identified 55 consensus genes included by all six gNBS research projects. Common reasons for discrepancy included variable definitions of treatability and strength of gene-disease association. We have identified a consensus gene list for gNBS that can be used as a basis for systematic harmonization efforts internationally."
Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities
Z Talebizadeh et al, IJNS, January 2024
(Posted: Jan 08, 2024 8AM)
From the abstract: "There is growing interest in the NBS community in assessing neurodevelopmental trajectories through long-term follow-up studies. This could be streamlined by employing uniform CDEs. To address this unmet need, we conducted a landscape analysis to (1) explore the co-occurrence of NDD-related comorbidities and NBS conditions using text mining in MedGen, (2) compile a list of NDD-related CDEs from existing repositories as well as LPDR data dictionaries, and (3) identify challenges and knowledge gaps hindering the early identification of risks for NDDs in NBS conditions. Our findings can inform future efforts toward advancing the research infrastructure for this established public health program. "
Next Generation Public Health Genomics: A Call to Assess the Equitable Implementation, Population Health Impact, and Sustainability of Precision Public Health Applications
MC Roberts et al, Public Health Genomics, December 22, 2023
(Posted: Dec 22, 2023 10AM)
From the article: "The field of Public Health Genomics recently celebrated its twenty-fifth anniversary. Defined by the CDC as responsible and effective translation of genome-based knowledge and technologies for the benefit of population health, public health genomics applications have expanded beyond newborn screening to other applications poised to improve public health. Yet despite the promise and potential for public health genomics, the
population health impact and sustainability of public health genomics applications has yet to be fully measured and achieved. Further access to public health genomics applications has been lower among underrepresented racial and ethnic communities, rural communities, and groups with lower education and income, deepening concerns that the field could exacerbate rather than redress health inequities. "
Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
A Gaviglio et al, IJNS, December 2023
(Posted: Dec 18, 2023 8AM)
From the abstract: " Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs) successfully identifies newborns with SCID and severe T-cell lymphopenia, as intended. At the same time, NBS programs face the challenge of false positive results, with a disproportionately high number in the premature newborn population. This study evaluates TREC values and SCID screening outcomes in premature newborns and elucidates evidence-based SCID screening practices that reduce unnecessary follow-up activities in this population."
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
K chan et al, IJNS, October 30, 2023
(Posted: Nov 01, 2023 7AM)
From the abstract: "Here, we describe web-based tools and resources developed and implemented by the newborn screening translational research network (NBSTRN) to advance newborn screening research and support NBS stakeholders worldwide. The NBSTRN’s tools include the Longitudinal Pediatric Data Resource (LPDR), the NBS Condition Resource (NBS-CR), the NBS Virtual Repository (NBS-VR), and the Ethical, Legal, and Social Issues (ELSI) Advantage. Research programs, including the Inborn Errors of Metabolism Information System (IBEM-IS), BabySeq, EarlyCheck, and Family Narratives Use Cases, have utilized NBSTRN’s tools and, in turn, contributed research data to further expand and refine these resources. "
The past 10 years of cystic fibrosis treatment: the road to cure.
Claudio Castaños et al. Lancet Respir Med 2023 10 (10) 864-865
(Posted: Oct 23, 2023 7PM)
From the paper: " Cystic fibrosis is a genetic disease associated with high rates of premature death. There have been many advances in clinical care for cystic fibrosis during the past 50 years, such as the widespread implementation of newborn screening for early diagnosis, enhanced mucociliary clearance techniques, and improvements in nutrition (including adjusted pancreatic enzyme replacement therapy and a high-energy, high-fat diet). However, the life expectancy of patients with cystic fibrosis is still substantially shorter than that of the general population."
Two Years of Newborn Screening for Duchenne Muscular Dystrophy as a Part of the Statewide Early Check Research Program in North Carolina
KS Kucera et al, Genetics in Medicine, October 17, 2023
(Posted: Oct 19, 2023 2PM)
From the abstract: " We screened 13,354 newborns and identified two males with DMD. The provisional 1626 ng/mL cutoff was raised to 2032 ng/mL to improve specificity, and additional cutoffs (900 and 360 ng/mL) were implemented to improve sensitivity for older and low-birthweight newborns.
Population-scale screening for elevated CK-MM in DBS is a feasible approach to identify newborns with DMD. Inclusion of birthweight- and age-specific cutoffs, repeat CK testing after 72 hours of age, and DMD sequencing improve sensitivity and specificity of screening."
A framework for evaluating long-term impact of newborn screening
S Kalkman et al, EJHG, October 3, 2023
(Posted: Oct 03, 2023 9AM)
From the article: "Today, expansion of NBS is accompanied by even more uncertainty about the benefit-harm ratio than before. New pharmacotherapies and technological developments in metabolomics and genomics have led to a substantial expansion of the NBS panel in a relatively short period of time. These novel tests and treatment options have generally not been assessed in presymptomatic individuals and knowledge on long-term outcome of treatment is lacking. Periodic evaluation would thus create important opportunities for continuous quality improvement; if the benefit-harm ratio is unfavorable then there is a strong case for adjustments or even for removing a condition from the panel."
Unequal global implementation of genomic newborn screening.
Ahmad N Abou Tayoun et al. Nat Rev Genet 2023 9
(Posted: Sep 20, 2023 7AM)
From the abstract: "Studies of genomic newborn screening are highly skewed towards populations in high-income countries. The evidence generated by these studies will be similarly biased and is likely to lead to disparate global implementation. Studies inclusive of historically under-represented populations are needed for equitable global access to genomic newborn screening. "
Genome Sequencing for Newborn Screening—An Effective Approach for Tackling Rare Diseases
S Jiang et al. JAMA Network Open, September 2023
(Posted: Sep 05, 2023 1PM)
From the paper: "Newborn screening is a crucial global public health initiative, with a primary aim to identify congenital disorders that could lead to significant morbidity and mortality if left untreated. However, the scope of traditional newborn screening methods is limited, detecting only a finite number of conditions. With the advent of next-generation genome sequencing technologies, gene panel sequencing as a first-tier newborn screening test is a promising strategy, potentially enabling comprehensive and accurate diagnosis of a broad spectrum of genetic conditions at birth."
Newborn sequencing is only part of the solution for better child health.
Luca Brunelli et al. Lancet Reg Health Am 2023 9 100581
(Posted: Sep 05, 2023 9AM)
From the abstract: "Our analysis of more than 130 million births in the United States between 1959 and 1995 shows that traditional NBS led to improvements in infant mortality and health equity only when it was implemented in association with measures to improve healthcare access for children. We suggest that the new genomic NBS will lead to better child health only when the same degree of attention devoted to genomic technologies will be directed to the promotion of public health measures that facilitate access to high-quality healthcare for all children."
Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
F Niri et al, IJNS, July 27, 2023
(Posted: Jul 30, 2023 10AM)
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential to optimize health outcomes for affected individuals. We developed a multiplex quantitative polymerase chain reaction (qPCR) assay using dried blood spot (DBS) samples for the detection of homozygous absence of exon 7 of the SMN1 gene.
Too many treatable diseases go unnoticed. This could change that.
B Venkataraman, Washington Post, July 26, 2023
(Posted: Jul 27, 2023 7AM)
Hundreds of treatable genetic diseases go unnoticed for years — not because they cannot be diagnosed, but because newborn screening for them is not routine in the United States. If biomedical breakthroughs are to benefit the millions of children afflicted with rare diseases, genetic testing of babies needs to expand. This is an urgent problem for families now, but its solution could also pave the way for a future in which doctors can treat many more rare, intractable diseases. By screening newborn genomes for currently known genetic diseases, patients and scientists could gain insights that lead to the treatment and prevention of thousands of illnesses that currently lack cures.
Genomic newborn screening: current concerns and challenges.
The Lancet et al. Lancet 2023 7 (10398) 265
(Posted: Jul 23, 2023 9AM)
The development of genomic sequencing technologies now offers an unprecedented opportunity to expand screening programs. More than 4000 genes have been associated with recognizable monogenic diseases affecting an estimated 400–700 million people worldwide. In the US, health-care costs and utilisation of services by patients with these rare diseases accounted for an estimated US$768 billion in inpatient costs alone in 2016. Why then do we not screen the whole genome of all newborns, given the wealth of information and potential benefits it could provide?
Newborn Screening Is a Lifesaver
CDC, July 2023
(Posted: Jul 23, 2023 9AM)
Thanks to researchers at the Centers for Disease Control and Prevention (CDC), a new way to screen for homocystinuria (HCU) in newborns will soon be available. The new test measures homocysteine levels directly. It can be done at the same time as other screening tests, and on the same blood spot sample from the baby. This will allow babies with HCU to receive care and treatment much faster, before any symptoms occur.
Screening newborns for deadly immune disorder saves lives
NIH, July 2023
(Posted: Jul 14, 2023 1PM)
Newborn screening for severe combined immunodeficiency (SCID) led to prompt treatment before life-threatening infections occurred, boosting survival of children with the disorder. The findings could encourage more widespread screening of newborns around the world for this disease.
Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?
Danya F Vears et al. Pharmgenomics Pers Med 2023 7 681-691
(Posted: Jul 11, 2023 11AM)
This review article synthesizes the potential benefits of wide-scale implementation of genomic newborn screening, as well as its practical and ethical issues, including obtaining appropriate consent, and health system implications. A more in-depth understanding of the barriers associated with implementing genomic newborn screening is critical to the success of GNBS programs, both from a practical perspective and also in order to maintain public trust in an important public health initiative.
Genomic newborn screening for rare diseases.
Zornitza Stark et al. Nat Rev Genet 2023 6
(Posted: Jun 30, 2023 10AM)
Incorporating genomic sequencing into newborn screening programs at the population scale holds the promise of substantially expanding the early detection of treatable rare diseases, with stored genomic data potentially benefitting health over a lifetime and supporting further research. As several large-scale newborn genomic screening projects launch internationally, we review the challenges and opportunities presented, particularly the need to generate evidence of benefit and to address the ethical, legal and psychosocial issues that genomic newborn screening raises.
Disease screening for newborns varies by state. For some, that means diagnoses come too late.
A Bendix, NBC News, June 16, 2023
(Posted: Jun 23, 2023 9AM)
Many parents have experienced the horror of learning that their children have rare diseases for which earlier intervention might have made a difference, say screening babies for more conditions could save lives. The Department of Health and Human Services recommends that newborns get screened for 37 disorders, including cystic fibrosis and Pompe disease, as well as 26 other related disorders. Krabbe disease isn’t on the list.
What is health and what do we mean when we say an intervention improves health?
F Ulpgh, EJHG, June 21, 2023
(Posted: Jun 21, 2023 7AM)
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
JL Deignan et al, Genetics in Medicine, June 13, 2023
(Posted: Jun 13, 2023 9AM)
The new CFTR variant set represents an updated minimum recommended variant set for CF carrier screening, and this new set now supersedes the previous set of 23 CFTR variants recommended by the ACMG. These revised recommendations apply only to carrier screening. They do not apply to CFTR variant testing for diagnosis or newborn screening. All other aspects of the updated 2020 ACMG CFTR technical standards still apply.
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Robert C Green et al. Am J Hum Genet 2023 6
(Posted: Jun 07, 2023 8AM)
Newborn genomic sequencing (NBSeq) to screen for medically important genetic information is of considerable interest but data characterizing the actionability of such findings, and the downstream medical efforts in response to discovery of unanticipated genetic risk variants, are lacking. From a clinical trial of comprehensive exome sequencing in 127 apparently healthy infants and 32 infants in intensive care, we previously identified 17 infants (10.7%) with unanticipated monogenic disease risks (uMDRs). In this analysis, we assessed actionability for each of these uMDRs with a modified ClinGen actionability semiquantitative metric (CASQM) and created radar plots representing degrees of penetrance of the condition, severity of the condition, effectiveness of intervention, and tolerability of intervention
Newborn Screening for Fabry Disease: Current Status of Knowledge
V Gragnaiello et al, J Per Med, June 2023
(Posted: Jun 06, 2023 8AM)
Fabry disease is an X-linked progressive lysosomal disorder, due to a-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the diagnosis is often delayed until the organ damage is already irreversibly severe, making specific treatments less efficacious. For this reason, in the last two decades, newborn screening has been implemented to allow early diagnosis and treatment.
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing
SL Stenton et al, GIM Open, May 29, 2023
(Posted: May 30, 2023 7AM)
There is discussion of expanding newborn screening (NBS) through the use of genomic sequence data, yet challenges remain in the interpretation of DNA variants. Population-level DNA variant databases are available, and it is possible to estimate the number of newborns that would be flagged as having a risk for a genetic disease (including false positives) via next generation sequencing (NGS screen positive).
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
Nina B Gold et al. JAMA Netw Open 2023 5 (5) e2312231
(Posted: May 09, 2023 5AM)
Do rare disease experts endorse genome sequencing of newborns to screen for treatable genetic diseases, and do they agree on which genes to include?
In this survey study of 238 rare disease experts, 87.9% agreed that genomic sequencing for monogenic treatable conditions should be available to all newborns. A total of 42 gene-disease pairs were endorsed by more than 80% of the experts. In this study, rare disease experts broadly endorsed screening of newborns with genome sequencing, and there was substantial concordance on a limited number of specific gene-disease pairs for prioritization.
Next-Generation Screening - The Promise and Perils of DNA Sequencing of Newborns at Birth: A Workshop
NASEM Workshop, June 7, 2023
(Posted: Apr 17, 2023 10AM)
The workshop will examine the utilization of DNA sequencing as a supplement to traditional newborn screening for conditions that are treatable, but not clinically evident in the newborn phase. The goals of the workshop are to (1) examine the known and expected benefits, and potential harms, of the widespread utilization of newborn DNA sequencing, (2) explore the ethical and data security and ownership issues associated with DNA sequencing of newborns at birth, and (3) address issues of next-generation newborn screening equity in the United States.
Newborn Screening in a Pandemic—Lessons Learned
M Mlinaric et al, IJNS, April 11, 2023
(Posted: Apr 14, 2023 7AM)
The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). The pandemic can be regarded as a stress test of the NBS under real-world conditions, highlighting critical aspects of this multidisciplinary system and the need for establishing local, national, and global strategies to improve its robustness and reliability in times of shortage and overloaded national healthcare systems.
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations
JR King et al, IJNS, April 11, 2023
(Posted: Apr 14, 2023 7AM)
First-tier genomic-based newborn screening has been proposed as a potential approach by which to concurrently screen infants for hundreds of monogenic diseases at birth. Given the clinical, phenotypic and genetic heterogeneity of IEI, a next-generation sequencing-based newborn screening approach would be suitable. There are, however, several ethical, legal and social issues which must be evaluated in detail prior to adopting a genomic-based newborn screening approach, and these are discussed herein in the context of IEI.
Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020
A Gaviglio et al, IJNS, April 2023
(Posted: Apr 14, 2023 7AM)
NBS continues to be one of the most successful public health interventions in the US, providing early detection and intervention to all infants. The increase in overall birth prevalence of core Recommended Uniform Screening Panel (RUSP) diseases detected via dried blood spot (DBS) specimens from 2015–2017 (17.50–18.31 per 10,000) to 2018–2020 (20.07 per 10,000) affirms the importance and impact of NBS programs. This report presents aggregate numbers and birth prevalence of diseases detected by DBS on the RUSP from 2018–2020, including data from fifty US states and two territories.
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
S Singh et al, IJNS, April 2023
(Posted: Apr 09, 2023 8AM)
During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively.
Newborn genome screening in the USA: early steps on a challenging path
B Furlough, Lancet Child & Adol Health, , April 2023
(Posted: Mar 22, 2023 7AM)
As of March, 2023, the Genomic Uniform-screening Against Rare Diseases In All Newborns (GUARDIAN) study at Columbia University and New York-Presbyterian hospitals in New York, NY, USA, has enrolled more than 1000 of a planned 100?000 babies who will undergo whole-genome sequencing over the next 4 years to detect gene variants associated with 158 rare diseases. It will be the largest US study to date of genome sequencing at birth to detect rare genetic diseases.
Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?
S White et al, EJHG, March 20, 2023
(Posted: Mar 21, 2023 8AM)
The current study aimed to determine the knowledge and attitudes of Australian parents and health professionals to the incorporation of genomic sequencing into NBS programs. Participants were surveyed online in 2016 using surveys adapted from previous studies. The majority of parents (90%) self-reported some knowledge of NBS, with 77% expressing an interest in NBS using the new technology. This was significantly lower than those who would utilise NBS using current technologies (99%). Although, many health professionals (62%) felt that new technologies should currently not be used as an adjunct to NBS, 79% foresaw the use of genomic sequencing in NBS by 2026.
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm
G La Marca et al, IJNS, March 2023
(Posted: Mar 20, 2023 7AM)
Future developments, utilizing genomic techniques, are likely to play an increasingly important role in newborn screening, possibly combined with artificial intelligence (AI)-driven software. We will consider the balance required to harness the potential of these new advances whilst maintaining the benefits and reducing the risks for harm associated with all screening.
Implications of Genomic Newborn Screening for Infant Mortality
MH Wojick et al, IJNS, March 2023
(Posted: Mar 09, 2023 1PM)
Current diagnostic genetic workflows are designed to initiate genetic testing after an infant develops disease symptoms, at which time therapies may not be clinically useful. There is increasing interest and an international effort to incorporate genome-wide sequencing into newborn screening approaches, though ethical considerations and other implementation concerns remain unresolved. Here, we comment on the implications of this approach for infant mortality reduction.
Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program
SB Jarvis et al, IJNS, March 2023
(Posted: Mar 09, 2023 1PM)
Implementation of Population-Based Genetic Testing of Newborn Infants for Prediction of Hearing Loss in Ontario, Canada
CDC Webinar, April 19, 2023
(Posted: Feb 22, 2023 6AM)
In 2019, Newborn Screening Ontario launched a novel screening approach for genetic permanent hearing loss (PHL) risk involving universal testing of newborn dried blood spots for a panel of penetrant GJB2 and SLC26A4 variants associated with congenital or very early onset PHL. In July 2020, the less penetrant and relatively frequent GJB2 V37I variant was added to the panel. Babies homozygous for this variant, or heterozygous for this variant and a penetrant variant, are estimated to be at ~20% risk for congenital hearing loss and ~50% risk of developing moderate or more severe PHL by age 5.
Population Screening for Rare Pathogenic Variants as the Low Hanging Fruit for Public Health Genomics Across the Lifespan
MJ Khoury, CDC Blog Post, February 13, 2023
(Posted: Feb 13, 2023 11AM)
Using the rationale of newborn screening for rare disorders for which a specific combination of features pertain (serious outcome, effective prevention of diseases and disabilities, asymptomatic latent period, and an affordable assay), DNA-based population screening for rare pathogenic variants could be an early low hanging fruit for the emerging field of public health genomics.
Benefits, Harms and Costs of Newborn Genetic Screening for Hypertrophic Cardiomyopathy: Estimates from the PreEMPT Model
KD Chrisiensen et al, Genetics in Medicine, January 31, 2023
(Posted: Feb 01, 2023 6AM)
In a cohort of 3.7 million newborns, newborn genetic screening would reduce HCM-related deaths through age 20 by 44 (95% uncertainty interval (95% UI): 10 to 103) but increase the numbers of children undergoing surveillance by 8,127 (95% UI, 6,308 to 9,664). Compared to usual care, newborn genetic screening costs $267,000 per life-year saved (95% UI, $106,000 to $919,000 per life-year saved). Newborn genetic screening for HCM could prevent deaths but at a high cost and would require many healthy children to undergo surveillance.
Newborn genetic testing in the United States and access to needed specialist care, National Survey of Children's Health, 2020: A cross-sectional study.
Wiener R Constance et al. PloS one 2022 17(12) e0279352
(Posted: Dec 23, 2022 5PM)
The purpose of this research is to determine if difficulty receiving specialty care for children with genetic diseases is associated with NST determination of the genetic condition. The research hypothesis is that parents/guardians of children with determination of genetic disease from NST are more likely to report no/slight difficulty accessing specialty care versus parents/guardians of children with genetic diseases whose determination was other than NST. This study has a cross-sectional design with National Survey of Children's Health, 2020 data. Data were analyzed for frequency, Rao Scott Chi square, and logistic regression analyses. Of 833 children with genetic diseases, most parents/guardians reported no/slight difficulty in receiving needed specialty care; however, children whose determination of a genetic condition was other than NST were 4.82 times as likely (95%CI: 1.66, 14.02; p = 0.0040) to have difficulty. In analysis adjusted for sex, race, age, premature birth, and birthweight, the adjusted odds ratio was 6.71 (95% CI:1.91, 23.60 p = 0.0031).
Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis
OMY Ngan et al, IJNS, November 30, 2022
(Posted: Dec 03, 2022 7AM)
A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease
K Jalal et al, IJNS, November 15, 2022
(Posted: Nov 15, 2022 7AM)
The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services’ Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases.
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders
NB Boychuk et al, IJNS, November 10, 2022
(Posted: Nov 11, 2022 6AM)
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors
M Kharrazi et al, IJNS, October 27, 2022
(Posted: Oct 31, 2022 9AM)
This survey aimed to find factors associated with missed CF cases due to IRT levels below program cutoffs. Twenty-nine states responded to a U.S-wide survey and 13 supplied program-related data for low IRT false screen negative cases (CFFN) and CF true screen positive cases (CFTP) for analysis.
Factors associated with “low” CFFN subgroup were older age at specimen collection, Saturday birth, hotter season of newborn dried blood spot collection, maximum = 3 days laboratories could be closed, preterm birth, and formula feeding newborns. Lowering IRT cutoffs may reduce “high” IRT CFFNs. Addressing hospital and laboratory factors may reduce “low” IRT CFFNs.
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
DS Millington et al, IJNS, October 11, 2022
(Posted: Oct 16, 2022 7AM)
It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (MPS-II, Hunter Syndrome) to the recommended uniform screening panel (RUSP) in the United States.
Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input
MH Farrell et al, IJNS, September 2022
(Posted: Oct 04, 2022 9AM)
Data from value comparisons suggested that parents believed knowing everything was very important even if they became distressed. Likewise, parents preferred autonomy even if they became distressed. However, when there might not be enough time to learn everything, parents showed a slight preference for deferring decision-making. Because most parents strongly preferred the policies of full disclosure or making the decision, rather than the withholding option for NBS results, these results can inform disclosure policies in NBS programs.
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
A Tluzcek et al, IJNS, September 2022
(Posted: Oct 04, 2022 9AM)
Psychosocial consequences of receiving unexpected neonatal screening results and unsolicited genetic information remain significant risks to expansion of NBS. Findings suggest that risks may be mitigated by improved parent NBS education, effective communication, individualized genetic counseling, and anticipatory developmental guidance. Clinicians need to take extra measures to ensure equitable service delivery to marginalized subpopulations.
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing
GT Timmins et al, Public Health Genomics, September 2022
(Posted: Sep 26, 2022 7AM)
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. 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.
dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
J Peng et al, IJNS, August 29, 2022
(Posted: Aug 30, 2022 7AM)
Here, we developed a database and web-based tools (dbRUSP) for the analysis of 41 NBS metabolites and six variables for a cohort of 500,539 screen-negative newborns reported by the California NBS program. The interactive database contains separate modules to study the influence of single variables and joint effects of multiple variables on metabolite levels. Users can input an individual’s variables to obtain metabolite level reference ranges and utilize dbRUSP to select new candidate markers for the detection of metabolic conditions.
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore Stephen F et al. American journal of human genetics 2022 8
(Posted: Aug 26, 2022 8AM)
Rapid whole-genome sequencing (rWGS) is attractive for comprehensive NBS because it concomitantly examines almost all genetic diseases and is gaining acceptance for genetic disease diagnosis in ill newborns. We describe prototypic methods for scalable, parentally consented, feedback-informed NBS and diagnosis of genetic diseases by rWGS and virtual, acute management guidance (NBS-rWGS). Using established criteria and the Delphi method, we reviewed 457 genetic diseases for NBS-rWGS, retaining 388 (85%) with effective treatments.
From Guthrie to Genomes: The Continued Evolution of Newborn Screening
A Gaviglio et al, CDC Blog Post, August 15, 2022
(Posted: Aug 15, 2022 7PM)
Two recent articles discuss the future of newborn screening and identified considerations and needs for the evolution of the newborn screening system as it tries to meet the growing demands to screen for more rare diseases and incorporate genomic technologies. As newborn screening (NBS) moves past 60 years of existence, there is great interest in how this successful public health program will continue to progress. Our understanding of the over 7000 known rare diseases has grown and the potential for use of genomic technologies at the population level has become more feasible leading to a heightened call for a newborn screening evolution.
UK explores whole-genome sequencing for newborn babies
T Burki, The Lancet, July 23, 2022
(Posted: Jul 25, 2022 7AM)
A pilot program will assess the risks and benefits of screening babies for a huge number of conditions. The UK Newborn Genomes Program is still in its infancy. It was created last year by Genomics England to oversee plans to undertake whole-genome sequencing of up to 200?000 newborn babies. The sequencing will be run as part of a research project within the National Health Service (NHS). The aim is to examine whether screening healthy babies for a broad range of rare genetic conditions could improve outcomes.
Newborn Screening by Genomic Sequencing: Opportunities and Challenges
D Bick et al, IJNS, July 20, 2022
(Posted: Jul 21, 2022 7AM)
Newborn screening for treatable disorders is one of the great public health success stories of the twentieth century worldwide. This commentary examines the potential use of a new technology, next generation sequencing, in newborn screening through the lens of the Wilson and Jungner criteria. Each of the ten criteria are examined to show how they might be applied by programs using genomic sequencing as a screening tool. While there are obvious advantages to a method that can examine all disease-causing genes in a single assay at an ever-diminishing cost, implementation of genomic sequencing at scale presents numerous challenges,
The Progress and Future of US Newborn Screening
MS Watson et al, IJNS, July 20, 2022
(Posted: Jul 21, 2022 7AM)
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.
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
STF Shih et al, IJNS, July 20, 2022
(Posted: Jul 21, 2022 7AM)
Over a 60-year time horizon, screening every newborn in the population and treating diagnosed SCID by early hematopoietic stem cell transplantation and SMA by gene therapy, would result in 95 QALYs gained per 100,000 newborns, and result in cost savings of USD 8.6 million. Sensitivity analysis indicates 97% of simulated results are considered cost-effective against commonly used willingness-to-pay thresholds. The introduction of combined NBS for SCID and SMA is good value for money from the long-term clinical and economic perspectives, representing a cost saving to governments in the long-term, as well as improving and saving lives
Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
AN Abou Tayoun, JAMA Network Open, July 11, 2022
(Posted: Jul 11, 2022 1PM)
A recent study suggests that targeted genetic screening—using population-specific common pathogenic variants—combined with physiological and cytomegalovirus testing may be an effective newborn screening strategy for hearing loss, in critically ill neonates and beyond. This combinatory approach has the additional benefit of identifying mild and later-onset hearing loss and providing valuable genetic information that is often missed by traditional NHBS. However, additional work is needed to characterize the genetic landscape of hearing loss across populations and to define the optimal population-wide genetic screening method for deafness.
Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit
Y Zhu et al, JAMA Network Open, July 11, 2022
(Posted: Jul 11, 2022 1PM)
Is expanded genomic sequencing combined with hearing screening associated with the detection of hearing loss and the improvement in the clinical management of patients in the neonatal intensive care unit (NICU)?
Findings In this cohort study that included 8078 patients in the NICU, expanded genomic sequencing was associated with a 15.6% increase in cases of diagnosed hearing loss that were missed by hearing screening and changed the clinical management strategies of these patients. Of 52 patients with a diagnosis of hearing loss, 39 (75%) had genetic findings and experienced a more severe degree of hearing loss.
Population Genomic Screening is Here: We Need Evidence on Health Impact and Optimal Implementation
MJ Khoury et al, CDC Blog Post, June 21, 2022
(Posted: Jun 21, 2022 3PM)
A recent study identified 12 population-based genomic screening programs in the United States and described their implementation logistics and potential health impact. In the past decade, the promise of genomic screening in the general population has garnered increasing interest due to a combination of factors such as enhanced sequencing capabilities, lowered costs of testing, and expanded knowledge on clinical validity and utility of gene-disease associations. Beyond newborn screening, a case has been made that population genomic screening can lead to the diagnosis of selected hereditary disorders in 2-3% of the population
Can’t Stop, Won’t Stop: The Resiliency of Newborn Screening Programs during the COVID-19 Pandemic
A Gaviglio, CDC Blog Post, June 14, 2022
(Posted: Jun 14, 2022 0PM)
A recent article identified the impact of the COVID-19 pandemic on the newborn screening system and highlighted the importance of collaboration and technical assistance to ensure ongoing operations of this essential public health service. The ongoing COVID-19 pandemic stressed, disrupted, and fundamentally changed the public health system in the United States. While much of the focus has, understandably, been on the infrastructure needed for infectious disease response, it is important to appreciate the pandemic’s impact on other essential public health programs, such as newborn screening.
Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs
L Bush et al, IJNS, May 2022
(Posted: May 31, 2022 9AM)
We consider the lived experiences of 169 family caregivers caring for 77 children with NBS-related conditions to identify lessons learned that can inform policy and practice related to population-based newborn screening using genomic technologies. Based on caregiver narratives obtained through in-depth interviews, we identify themes characterizing these families’ diagnostic odyssey continuum, which fall within two domains: (1) medical management implications of a child diagnosed with an NBS-related condition and (2) psychological implications of a child diagnosed with an NBS-related condition. For Domain 1, family caregivers’ experiences point to the need for educational resources for both health care professionals that serve children with NBS-related conditions and their families; empowerment programs for family caregivers; training for providers in patient-centered communication; and access to multi-disciplinary specialists. For Domain 2, caregivers’ experiences suggest a need for access to continuous, long-term counseling resources; patient navigator resources; and peer support programs.
Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward
V Rahimzadeh et al, Frontiers in Genetics, May 2022
(Posted: May 31, 2022 8AM)
In this paper we consider recommendations from professional genetic societies in Europe and North America in light of scientific advances in ES/GS and our current understanding of the limitations of ES/GS approaches in the NBS context. We invoke the principle of proportionality—that benefits clearly outweigh associated risks—and the human right to benefit from science to argue that rigorous evidence is still needed for ES/GS that demonstrates clinical utility, accurate genomic variant interpretation, cost effectiveness and universal accessibility of testing and necessary follow-up care and treatment.
Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study
H Wang et al, Genetics in Medicine, May 17, 2022
(Posted: May 18, 2022 11AM)
We conducted semistructured interviews with 32 pregnant Latinas who predominately lived in rural areas and had low levels of income and education. An emergent coding approach was used to analyze the qualitative data collected. Our entire sample believed that ES should be offered as a part of newborn screening, which could empower pregnant Latinas to better understand their children’s health and take early treatment actions. Although some participants were concerned about potentially bad ES results and had questions about the accuracy of ES results, nearly all interviewees reported that they would be willing to have their newborns undergo ES. The main reasons given were to be informed of diseases that the baby may have, and the perception that ES is a procedure that involves minimal risk.
Towards Achieving Equity and Innovation in Newborn Screening across Europe
J Sikonja et al, IJNS,May 2022
(Posted: May 08, 2022 1PM)
Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome. Despite these clear benefits, the availability and conduct of NBS programs varies considerably across Europe and, with the increasing potential of genomic testing, it is likely that these differences may become even more pronounced.
From Guthrie to Genomes: Expanding Bioinformatic Capabilities in Newborn Screening Programs
A Gaviglio et al, CDC Blog Post, March 21, 2022
(Posted: Mar 22, 2022 7AM)
It has been over 50 years since Dr. Robert Guthrie developed the first test that led to population-based newborn screening in the United States. Since that time, testing has become more complex and dozens of diseases have been added to newborn screening panels across the country. In addition, new treatments such as gene-targeted therapies for many rare diseases are expanding the need for newborn screening so that affected babies can have access to these important new treatments as soon as possible.
5 Things to Know About Heart Defects
CDC, February 2022
(Posted: Feb 15, 2022 3PM)
Heart defects are the most common type of birth defect, affecting nearly 1% of births – or about 40,000 births – per year in the United States. It is estimated that more than two million people in the United States are living with heart defects. Some heart defects can be found during pregnancy by looking at ultrasound pictures of the heart of the developing baby. Other heart defects aren’t detected until birth through newborn screening, or later in life, during childhood or adulthood. Screening newborns for heart defects allows them to be treated early and may prevent other health problems or early death. A CDC study found that, as of 2018, all 50 states and Washington, D.C. have newborn screening programs that test for critical congenital heart defects.
Precision Public Health in Action: New CDC Pilot Projects Integrating Human Genomics into Public Health Surveillance and Applied Research
M Clyne et al, CDC Blog Post, February 14, 2022
(Posted: Feb 15, 2022 7AM)
Six CDC projects were selected for funding in 2022 and 2023. They cover a wide range of topics, including: Assessing the impact of genetics in the control of two infectious diseases (Tuberculosis and Ebola), enhancing the reporting of gene/genome sequencing in newborn screening programs, examining the role of medications and genetics in the National Birth Defects Prevention Study (NBDPS), establishing population-based, ethnicity-specific allele frequencies for pharmacogenomic traits of public health importance using the National Health and Nutrition Examination Survey (NHANES), and enhancing the evaluation of genetic risk prediction models for inhibitor development among people with hemophilia in different populations.
Modeling Genomic Screening in Newborns
CY Liu et al, JAMA Pediatrics, January 24, 2022
(Posted: Jan 25, 2022 8AM)
In this Viewpoint, we discuss how a flexible microsimulation model synthesizes available clinical and epidemiological data, assesses rapidly emerging variant-disease associations, projects long-term outcomes, and estimates the potential value of newborn genomic screening focusing on specific sets of genes in unselected or targeted populations.
Expert Evaluation of Strategies to Modernize Newborn Screening in the United States
DB Bailey et al, JAMA Network Open, December 29, 2021
(Posted: Dec 29, 2021 2PM)
What solutions do subject matter experts recommend to prepare newborn screening for a rapid increase in the number of transformative therapies that must be provided early in life? In this survey, 40 experts in newborn screening evaluated 20 potential solutions. The highest rated solutions addressed cross-state variability, national harmonization, data needed for clinical and policy decisions, and support to expedite state implementation. The findings suggest that a coordinated national vision that incorporates effective solutions will be needed for newborn screening to accommodate an increasing number of transformative therapies.
Head To Head: Should all babies have their genome sequenced at birth?
LG Biesecker et al, BMJ, November 17, 2021
(Posted: Nov 19, 2021 7AM)
The UK is set to pilot genetic sequencing in healthy babies. Genomic screening at appropriate ages could help reduce the burden of genetic disorders, say Leslie Biesecker and colleagues, but David Curtis argues that newborns cannot consent and that our most personal data might be misused.
Trends in SARS-CoV-2 seroprevalence in Massachusetts estimated from newborn screening specimens
KC Ma et al, MEDRXIV, October 29, 2021
(Posted: Oct 30, 2021 11AM)
We analyzed 72,117 newborn dried blood spots collected from November 2019 through December 2020, representing 337 towns and cities across Massachusetts. Statewide seroprevalence was estimated to be 0.03% (90% credible interval (CI) [0.00, 0.11]) in November 2019 and rose to 1.47% (90% CI [1.00, 2.13]) by May 2020, following sustained SARS-CoV-2 transmission in the spring. Seroprevalence plateaued from May onwards, reaching 2.15% (90% CI [1.56, 2.98]) in December 2020. Seroprevalence varied substantially by community and was particularly associated with community percent non-Hispanic Black
Newborn Hearing Screening Can Improve Reading Skills
CDC, October 2021
(Posted: Oct 25, 2021 1PM)
Findings showed that reading proficiency significantly improved for each group of children (by birth year and grade overall) following implementation of UNHS/EHDI. This study is the first to demonstrate long-term improvement in reading proficiency over time among children with hearing loss, as UNHS/EHDI programs were being implemented. By the end of the study, more than 80% of children in Colorado met the national EHDI 1-3-6 benchmarks.
Newborn Genome Sequencing: The next step in public health?
B Zettler, Genomes2People, October 21, 2021
(Posted: Oct 22, 2021 7AM)
If you know much about the state of genome sequencing, especially its increasing application in medical settings, you might wonder: Why stop at 35, or even 60? We have discovered gene associations for thousands of conditions, so why not sequence a newborn’s whole genome and see what else might be prevented? It’s complicated. But also: Good question.
BABY STEPS
Sequencing every newborn’s genome to detect diseases faces ethical and practical obstacles, but the United Kingdom is pushing ahead with a major test
J Kaiser, Science, September 23,2021
(Posted: Sep 24, 2021 7AM)
In the United States, sequencing every newborn’s genome is probably still a long way off. Even with inexpensive technology, newborn genome screening on a countrywide scale could take complex infrastructure and hundreds of millions of dollars, if not billions. Some companies already market newborn tests that sequence many genes or the whole genome, at a cost of several hundred to a couple thousand dollars. But those tests are likely to benefit only relatively well-off families.
The Effect of BabySeq on Pediatric and Genomic Research-More Than Baby Steps.
Tarini Beth A et al. JAMA pediatrics 2021 8
(Posted: Aug 24, 2021 8AM)
Although this study is an exciting first step, any predictions that WES in newborns will soon become the primary testing modality in the current US newborn screening model are premature. Newborn screening is a mandatory state-run public health program that screens infants in the first 1 to 2 days after birth to identify those at risk for treatable inherited disorders.
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
Pereira Stacey et al. JAMA pediatrics 2021 8
(Posted: Aug 24, 2021 8AM)
In this randomized clinical trial that included 325 families, scores on measures of psychosocial impact in 3 family domains—parent-child relationship, parents’ psychological distress, and parents’ relationship—did not show sustained statistical differences between study groups over time.
Principles of Genomic Newborn Screening Programs
A Systematic Review
L Downie et al, JAMA Network Open, July 20, 2021
(Posted: Jul 21, 2021 7AM)
his systematic review identified 36 relevant articles to inform important points to consider in the design of a gNBS program. These covered parental interest and uptake of testing; gene selection; clinical validity and utility; and ethical, legal, and social implications. The findings suggest that gNBS should be introduced with key considerations regarding choice, flexible consent, and transparent gene and disease selection, maximizing validity and utility while minimizing uncertainty and reflecting the ethical values of society.
Whole genome sequencing of all UK newborns would have public support
N Davis, The Guardian, July 7, 2021
(Posted: Jul 08, 2021 8AM)
Plans to sequence the whole genome of every newborn in the UK in order to spot those at heightened risk of certain health conditions have been given a boost, with consultations suggesting the approach could have public support.
Use of Genomics in Newborn Screening Programs: The Promise and Challenges
CDC September 21 webinar
(Posted: Jun 17, 2021 9AM)
While some have called for newborn screening using whole exome or whole genome sequencing, substantial barriers exist, including cost, privacy, equity in access, and the need for informed consent for sequencing of identifiable individuals. However, these technologies could play a role in testing those who screen positive using initial biochemical screens. Join us as we discuss both current and potential future use of genomics in newborn screening.
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.
DeCristo Daniela M et al. Genome medicine 2021 3 (1) 50
(Posted: Mar 31, 2021 8AM)
Commercial neonatal genomic screening panels have heterogeneous content and may contain some conditions with lower actionability than would be expected for public health newborn screening; conversely, some conditions with higher actionability may be omitted from these panels. The lack of transparency about how conditions are selected suggests a need for greater detail about panel content in order for parents to make informed decisions.
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
MH Wojcik et al, Genetics in Medicine, March 26, 2021
(Posted: Mar 27, 2021 7AM)
Newborn screening (NBS) is performed to identify neonates at risk for actionable, severe, early-onset disorders, many of which are genetic. The BabySeq Project randomized neonates to receive conventional NBS or NBS plus exome sequencing (ES) capable of detecting sequence variants that may also diagnose monogenic disease or indicate genetic disease risk. We therefore evaluated how ES and conventional NBS results differ in this population.
Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights.
Yeh Jennifer M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 3
(Posted: Mar 27, 2021 7AM)
Among 3.7 million newborns, under usual care, 1,803 developed a CPS malignancy before age 20. With universal screening, 13.3% were identified at birth as at-risk due to P/LP variant detection and underwent surveillance, resulting in a 53.5% decrease in cancer deaths in P/LP heterozygotes and a 7.8% decrease among the entire cohort before age 20. Given a test cost of $55, universal screening cost $244,860 per life-year gained.
Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.
Boyarchuk Oksana et al. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021 49(289) 80-83
(Posted: Mar 16, 2021 10AM)
Newborn screening for SCID with T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) assay for the identification of T- and B-lymphopenia has been implemented in a number of highly developed countries of the world. A number of studies proved the clinical and cost-effectiveness of screening for SCID by using TREC assay. However, both clinical benefits and economic costs for screening may vary depending on country and continent.
Successful incorporation of a genetic risk prediction research platform into routine newborn screening
OM Bendor-Samuel et al, MEDRXIV, March 1, 2021
(Posted: Mar 02, 2021 8AM)
Between April 2018 and November 2020, over 15500 babies were enrolled into INGR1D (Investigating Genetic Risk for T1D), a research study to identify newborns with an increased genetic risk of T1D. This project, performed as part of a T1D primary prevention study (the Primary Oral Insulin Trial, POInT), has helped to pioneer the integration of genetic screening into the NHS Newborn Blood Spot Screening Program (NBSSP) for consenting mothers, without affecting the screening pathway.
The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis.
Bergougnoux Anne et al. International journal of neonatal screening 2020 Mar 6(1)
(Posted: Feb 12, 2021 11AM)
CFTR -extended genetic analysis (EGA) by sequencing its coding regions has become affordable and has already been included as part of a limited number of core NBS programs, to the benefit of admixed populations. Based on results analysis of existing programs, the values and challenges of EGA are reviewed in the perspective of its implementation on a larger scale.
Ethical and Psychosocial Implications of Genomic Newborn Screening
HL Levy, IJNS, January 2021
(Posted: Jan 21, 2021 9AM)
The potential for genomic screening of the newborn, specifically adding genomic screening to current newborn screening raises significant ethical issues. These include the limitations of bioinformatic interpretation of identified variants in terms of pathogenicity, the potential for substantial uncertainty about appropriate diagnosis, therapy, and follow-up, the potential for unnecessary treatment and “medicalizing” normal children, the possibility of adding large medical costs for otherwise unnecessary follow-up and testing.
Genomic Medicine Year in Review: 2020.
Manolio Teri A et al. American journal of human genetics 2020 Dec (6) 1007-1010
(Posted: Dec 07, 2020 8AM)
Genomic medicine implementation research continues its rapid forward pace. 2020 highlighted themes included randomized trials of pharmacogenetic interventions, national implementation of genome sequencing for prenatal screening and rare disease diagnostics, role of genome sequencing in newborn screening, use of genetics in predicting type 1 diabetes, and polygenic modification of monogenic disease risk.
Health and economic outcomes of newborn screening for infantile-onset Pompe disease
JS Richardson et al, Genetics in Medicine, December 7, 2020
(Posted: Dec 07, 2020 8AM)
A decision analytic microsimulation model simulated health and economic outcomes of a birth cohort of 4 million children in the United States. Universal NBS and treatment was compared with clinical identification and treatment of infantile-onset Pompe disease. Newborn screening for Pompe disease results in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.
A Strong Start: Enhancing Newborn Screening for Precision Public Health
D Jones et al, CDC Blog Post, October 13, 2020
(Posted: Oct 15, 2020 7AM)
Genome sequencing can help enhance newborn screening programs by providing more information beyond traditional biochemical and other tests. Not all states have the expertise needed to interpret results, A recent pilot project in Utah showed how an existing open-source data standard can successfully be used to transmit newborn screening genomic data.
Regulatory landscape of providing information on newborn screening to parents across Europe
V Frankova et a, EJHG, October 10, 2020
(Posted: Oct 12, 2020 0PM)
This survey explored whether any legally binding provisions existed pertaining to the provision of information about NBS to parents across Europe. 27 countries participated in the survey. Most countries have some sort of legal framework or guidelines for providing information to parents. 37% indicated that the provision of information was required prenatally.
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
N Boy et al, Genetics in Medicine, September 28, 2020
(Posted: Sep 29, 2020 8AM)
This meta-analysis demonstrates that NBS programs for Glutaric Aciduria Type 1 (GA1) have an overall positive effect on the neurological outcome of affected individuals but their success critically depends on the quality of therapy.
Study Finds Methods for Alpha-Thalassemia Screening and Reporting Vary Across Newborn Screening Programs
CDC, September 2020
(Posted: Sep 21, 2020 9AM)
The survey found that among NBS programs who conduct alpha-thalassemia screening, there are a lot of differences in how states identify, define, and share results of alpha-thalassemia diagnosis through NBS programs. Some state programs use more rigorous testing practices, and there are differences across states in what is considered a positive result.
Newborn Screening Practices and Alpha-Thalassemia Detection — United States, 2016
MA Bender et al, MMWR, September 11, 2020
(Posted: Sep 11, 2020 7AM)
A survey of NBS programs found that although most programs report at least one form of suspected alpha-thalassemia, the methodologies, thresholds used, forms of disease reported, and processes for reporting vary widely. Standardization of technical and reporting procedures could provide data to better understand the public health impact of alpha-thalassemia.
Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017
MK Sontag et al, MMWR, September 10, 2020
(Posted: Sep 11, 2020 7AM)
This first national report from all 50 states estimates that approximately 12,900 births might be identified each year with an NBS disorder included in the study (34.0 per 10,000 births). NBS continues to be one of the most successful public health interventions, offering early intervention regardless of geographic, ethnic, or socioeconomic differences.
