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Genomic newborn screening for rare diseases

NATURE REVIEWS GENETICS (2023)

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Article Genetics & Heredity

Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model

Kurt D. Christensen et al.

Summary: This study developed a model to simulate the effects of newborn genetic screening for hypertrophic cardiomyopathy (HCM). The results showed that although screening could prevent deaths, it would come at a high cost and necessitate surveillance for many healthy children.

GENETICS IN MEDICINE (2023)

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Article Genetics & Heredity

Genome screening, reporting, and genetic counseling for healthy populations

Selina Casalino et al.

Summary: Rapid advancements in genome sequencing technology have improved our understanding of the relationship between genes and human disease. This study collected blood samples from COVID-19 patients and performed genome sequencing to analyze the data. The researchers developed a comprehensive report that includes information on disease risks, genetic variants, and ancestry. They emphasize the importance of genetic counseling and offer counseling and referrals for clinically significant findings.

HUMAN GENETICS (2023)

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Article Medical Laboratory Technology

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

Man Jin Kim et al.

Summary: The use of a targeted sequencing platform and automated analytic pipeline allows for rapid and accurate diagnosis of treatable rare genetic diseases, providing timely treatment options. The results of this study demonstrate that this method can efficiently complete testing and report results within a short timeframe.

ANNALS OF LABORATORY MEDICINE (2023)

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Article Pediatrics

Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study

Didu S. Kariyawasam et al.

Summary: Newborn screening coupled with early access to disease-modifying therapies effectively reduces functional burden and associated comorbidities for children with SMA. Children diagnosed through newborn screening have better survival rates, walking abilities, and motor function compared to those diagnosed through clinical referral, with lower requirements for respiratory and feeding support.

LANCET CHILD & ADOLESCENT HEALTH (2023)

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Article Clinical Neurology

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany

Wolfgang Muller-Felber et al.

Summary: With the availability of targeted therapies for spinal muscular atrophy, efforts are being made worldwide to incorporate screening for this condition in general newborn screening. In Germany, after pilot projects from 2018-2021, spinal muscular atrophy screening was included in the general newborn screening from October 2021. Criteria for follow-up were developed in collaboration with key stakeholders to ensure a smooth transition. Although there were initial false positive findings during the transition, they were subsequently resolved through optimization of the screening method in the laboratories involved. The timing of diagnosis and therapy initiation did not significantly differ from the pilot project.

JOURNAL OF NEUROMUSCULAR DISEASES (2023)

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Article Genetics & Heredity

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

Zornitza Stark et al.

Summary: Australian Genomics is a national collaborative partnership that aims to integrate genomics into healthcare through a whole-of-system approach. It has evaluated genomic testing outcomes in over 5,200 individuals across rare disease and cancer studies and provided evidence-based changes in policy and practice, resulting in government funding and access to genomic tests. It has also developed national skills, infrastructure, policy, and data resources to support data sharing and improve clinical genomic delivery.

AMERICAN JOURNAL OF HUMAN GENETICS (2023)

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Editorial Material Genetics & Heredity

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective

Melissa A. Parisi et al.

Summary: This paper discusses the optimal timing for identifying individuals at risk for treatable genetic conditions. Utilizing a lifespan approach, the authors propose a framework that considers genetic testing during the prenatal period, newborn period, childhood, and adulthood. For each period, they examine the objectives, current status, future vision, advantages and disadvantages, and feasibility and ethical considerations of genetic testing. The concept of a Genomics Passbook is introduced, suggesting early genomic screening and data analysis at specific times during a person's lifetime.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2023)

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Article Genetics & Heredity

Australian healthcare professionals' perspectives on the ethical and practical issues associated with genomic newborn screening

Michelle Cao et al.

Summary: This study explores the perspectives of Australian healthcare professionals on the integration of genomic sequencing into newborn bloodspot screening. The findings suggest that while it may not be currently appropriate, there is consensus that genomic screening could be implemented within the next decade. However, there are differing views on which conditions should be included and how to handle the volume of data generated.

JOURNAL OF GENETIC COUNSELING (2023)

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Article Biochemistry & Molecular Biology

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Sebastian Lunke et al.

Summary: A report from the Australian Acute Care Genomics programme demonstrates the clinical utility of integrating rapid whole-genome sequencing and multi-omic analyses in diagnosing and treating critically ill infants and children with rare diseases. Over a span of 2 years, the program provided whole-genome sequencing to 290 families and achieved a diagnostic yield of 54%. The results highlight the potential of incorporating multi-omic approaches into mainstream diagnostic practice for rare disease genomic testing.

NATURE MEDICINE (2023)

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Article Genetics & Heredity

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

Yan Ding et al.

Summary: Universal newborn screening (NBS) is a successful public health intervention, and archived dried bloodspots (DBS) collected for NBS can provide high-quality genomic DNA (gDNA) for population genomic studies without the need for PCR amplification. This pilot study demonstrates simple methods for gDNA extraction and whole genome sequencing (WGS) library preparation from DBS up to 20 years old, yielding WGS of sufficient quality and quantity for variant calling.

NPJ GENOMIC MEDICINE (2023)

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Article Medicine, General & Internal

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

Mallory J. Owen et al.

Summary: Understanding the association of single-locus genetic diseases with infant mortality is important for public health and research. A cohort study conducted in San Diego County found that single-locus genetic diseases were the most common identifiable cause of infant mortality, and early diagnosis and timely treatment may decrease infant mortality.

JAMA NETWORK OPEN (2023)

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Review Biochemistry & Molecular Biology

A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease

Stephanie Best et al.

Summary: The research highlights the significant impact of location on accessing genetic/genomic services. Challenges such as lack of genetic specialists in rural areas, need for more generalist services, and insufficient genetic/genomic knowledge are exacerbated for rural populations. Both rural and urban communities face common barriers, emphasizing the importance of raising awareness and knowledge among communities and clinicians.

EUROPEAN JOURNAL OF HUMAN GENETICS (2022)

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Review Biochemistry & Molecular Biology

Rapid genomic testing for critically ill children: time to become standard of care?

Zornitza Stark et al.

Summary: Rapid genomic testing has transformed rare disease diagnosis in critically ill neonatal and paediatric patients, providing real-time results to guide patient management. Effective service delivery models are needed to support scalability and promote medical equality in the implementation of rapid genomic testing.

EUROPEAN JOURNAL OF HUMAN GENETICS (2022)

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Review Genetics & Heredity

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M. Baxter et al.

Summary: This article discusses the transformation and development of Mendelian disease genomic research, highlighting the role of the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) and their impact on the research community. In addition to data sharing and candidate gene exchange, the CMGs provide resources, tools, and training to foster understanding of genes and genome variation.

GENETICS IN MEDICINE (2022)

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Article Genetics & Heredity

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Ilias Goranitis et al.

Summary: This study evaluates the cost-effectiveness of providing faster genomic results in pediatric critical care and finds that early initiation of ultra-rapid genomic testing can offer substantial economic and personal benefits.

GENETICS IN MEDICINE (2022)

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Review Genetics & Heredity

Variant interpretation using population databases: Lessons from gnomAD

Sanna Gudmundsson et al.

Summary: Reference population databases are crucial for variant and gene interpretation, aiding in identifying pathogenic variants and discovering new disease-gene relationships. The Genome Aggregation Database is currently the largest and most widely utilized collection of population variation, accessible through the gnomAD browser for rapid and intuitive variant analysis.

HUMAN MUTATION (2022)

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Letter Medicine, General & Internal

Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting

John E. Gorzynski et al.

NEW ENGLAND JOURNAL OF MEDICINE (2022)

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Article Medicine, Research & Experimental

Ethylmalonic encephalopathy masquerading as meningococcemia

Ari Horton et al.

Summary: This article describes a case in which ethylmalonic encephalopathy was misdiagnosed as meningococcal septicemia and shock. The use of ultrarapid whole-genome testing and prompt biochemical analysis facilitated accurate diagnosis and treatment.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2022)

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Article Genetics & Heredity

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Marina T. DiStefano et al.

Summary: This study addresses the lack of universal standards and terminologies in defining gene-disease relationships. The Gene Curation Coalition (GenCC) was formed to establish harmonized definitions and develop a unified database. The results show that conflicts in gene-disease validity assertions exist, highlighting the importance of standardization and collaboration in genetic testing and variant interpretation.

GENETICS IN MEDICINE (2022)

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Article Genetics & Heredity

Effects of participation in a US trial of newborn genomic sequencing on parents at risk for depression

Talia S. Schwartz et al.

Summary: Research has shown a strong correlation between parental depressive symptoms and their child's participation in genomic studies, however, these symptoms are typically transient and most parents attribute their symptomatology to life stressors rather than participation in the trial.

JOURNAL OF GENETIC COUNSELING (2022)

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Article Genetics & Heredity

Use of a chatbot to increase uptake of cascade genetic testing

Tara Schmidlen et al.

Summary: Successful proband-mediated family communication and subsequent cascade genetic testing uptake require interventions that present clear and detailed information with medical authority. A Family Sharing Tool (FST) and a cascade chatbot were developed to facilitate communication between patients and their relatives regarding genetic test results. The study found that consent to use FST significantly increased the uptake of cascade genetic testing among relatives of probands.

JOURNAL OF GENETIC COUNSELING (2022)

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Review Genetics & Heredity

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

Shruti Marwaha et al.

Summary: Rare diseases affect hundreds of millions of people worldwide, with traditional diagnostic techniques often failing to provide accurate diagnoses. New technologies such as whole genome sequencing and transcriptomics offer additional benefits in diagnosing undiagnosed patients. This review discusses the potential of these technologies, as well as computational methods and automation in genomic analysis.

GENOME MEDICINE (2022)

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Article Genetics & Heredity

Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study

Brittan Armstrong et al.

Summary: This study investigates parents' attitudes towards population-based newborn screening (NBS) and newborn genomic sequencing (nGS). The results show that most parents support all newborns receiving standard NBS, but have lower support for nGS. Furthermore, most parents are very interested in receiving information on their baby's risk of developing diseases from nGS.

FRONTIERS IN GENETICS (2022)

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Article Genetics & Heredity

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design

Amanda Pichini et al.

Summary: The potential of whole genome sequencing as a diagnostic tool in healthcare has been demonstrated by initiatives such as the 100,000 Genomes Project. Now, Genomics England is working with the National Health Service (NHS) to explore the utility of whole genome sequencing in newborns. The research program aims to evaluate the feasibility and impact of screening for rare genetic conditions, develop new diagnostics and treatments, and examine the implications of storing an individual's genome for their lifetime.

FRONTIERS IN GENETICS (2022)

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Article Genetics & Heredity

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

Laney K. Jones et al.

Summary: This study used the RE-AIM framework to evaluate and report the outcomes of DNA-based population screening programs. The results showed that DNA screening identified at-risk individuals more comprehensively than clinical ascertainment based on phenotypes or personal/family history.

FRONTIERS IN GENETICS (2022)

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Article Pediatrics

Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China

Xian Wu et al.

Summary: Most healthcare professionals working in newborn screening centers in southeast China are interested in and consider newborn genetic screening necessary. However, they also have concerns about the inability to provide genetic counseling and ethical issues. The level of education, institution level, and engagement in tandem mass spectrometry screening are important factors influencing their interest and perspectives.

FRONTIERS IN PEDIATRICS (2022)

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Review Genetics & Heredity

Digital health-enabled genomics: Opportunities and challenges

Yvonne Bombard et al.

Summary: Digital health solutions, including genomics-enabled care, have gained momentum in various medical disciplines, with the COVID-19 pandemic accelerating their adoption. These solutions, such as digital genomics decision support tools, chatbots for genetic counseling, and the digital delivery of comprehensive genetic services, are crucial for patient-centered care, improved outcomes, and increased efficiencies in genomic medicine. However, there are strategic challenges and gaps in clinical evidence, cost-effectiveness, clinical guidelines, policy, and regulatory frameworks that need to be addressed before broad adoption of genomic digital health.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Medicine, General & Internal

Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa

Shireen V. V. Guide et al.

Summary: Topical administration of B-VEC was more effective in achieving complete wound healing at 3 and 6 months in patients with dystrophic epidermolysis bullosa compared to placebo. Patients treated with B-VEC experienced pruritus and mild systemic side effects. Longer and larger trials are needed to evaluate the durability and side effects of B-VEC for this disease.

NEW ENGLAND JOURNAL OF MEDICINE (2022)

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Editorial Material Genetics & Heredity

Newborn screening for neurodevelopmental diseases: Are we there yet?

Wendy K. Chung et al.

Summary: Newborn screening (NBS) in the US is a crucial health program that provides timely treatments for babies. Advances in DNA sequencing technology offer an opportunity to add it as a screening method for genetic neurodevelopmental disorders (NDD). However, the lack of effective treatments and considerations for large-scale pilot studies are challenges that need to be addressed.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2022)

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Article Public, Environmental & Occupational Health

Benefits and harms adopted by health economic assessments evaluating antenatal and newborn screening programmes in OECD countries: A systematic review of 336 articles and reports

May Ee Png et al.

Summary: This study systematically identified the benefits and harms included in economic assessments of antenatal and newborn screening programs. The diagnosis of screened conditions, life years and health status adjustments, and treatment were the main factors evaluated in both antenatal and newborn screening. Overdiagnosis and spillover effects were often overlooked.

SOCIAL SCIENCE & MEDICINE (2022)

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Article Pharmacology & Pharmacy

Cost-effectiveness of population-wide genomic screening for familial hypercholesterolemia in the United States

Scott J. Spencer et al.

Summary: Population-wide FH genomic screening is not cost-effective at current willingness to pay thresholds, but reducing test costs, screening at younger ages, or including FH within broader multiplex screening panels may improve clinical and economic value.

JOURNAL OF CLINICAL LIPIDOLOGY (2022)

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Article Medicine, General & Internal

Phase 1-2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B

Pratima Chowdary et al.

Summary: FLT180a, a liver-directed adeno-associated virus (AAV) gene therapy, showed promising results in normalizing factor IX levels in patients with hemophilia B. This multicenter, open-label, phase 1-2 trial demonstrated sustained factor IX activity in most patients after receiving varying doses of FLT180a, with the use of glucocorticoids and tacrolimus for immunosuppression.

NEW ENGLAND JOURNAL OF MEDICINE (2022)

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Article Health Care Sciences & Services

Investigating Psychological Impact after Receiving Genetic Risk Results-A Survey of Participants in a Population Genomic Screening Program

Cara Zayac McCormick et al.

Summary: This study aimed to understand individuals' psychological response to receiving an actionable genetic test result from genomic screening. The results showed that over time, participants' emotional response to receiving the results decreased, with mainly moderate positive emotions. These findings provide support for the clinical utility of population genomic screening programs.

JOURNAL OF PERSONALIZED MEDICINE (2022)

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Article Genetics & Heredity

Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)

Amy Brower et al.

Summary: Each year, a significant number of newborns are identified with conditions through population-based newborn screening (NBS), and advancements in genomic technologies hold promise to expand NBS. However, the expansion of NBS in the United States is slow and occurs condition by condition and state by state. The Newborn Screening Translational Research Network (NBSTRN) conducted the NBS Expansion Study to identify challenges and propose improvements, and found that the capacity to expand NBS varies across the US with an average adoption time of 9.5 years for a new condition. Four factors delaying and complicating NBS expansion were identified.

FRONTIERS IN GENETICS (2022)

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Article Genetics & Heredity

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

Stephen F. Kingsmore et al.

Summary: Newborn screening (NBS) improves outcomes in severe childhood disorders by early treatment, and rapid whole-genome sequencing (rWGS) is gaining acceptance for genetic disease diagnosis. Simulated NBS-rWGS shows high accuracy in diagnosis and potential for early intervention to prevent symptoms.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Immunology

Advances in the treatment of severe combined immunodeficiency

Mary A. Slatter et al.

Summary: This article reviews the latest evidence on achieving curative treatment with minimal short- and long-term toxicity, normal immune reconstitution, and good quality of life.

CLINICAL IMMUNOLOGY (2022)

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Article Genetics & Heredity

Hospital-level variation in genetic testing in children’s hospitals’ neonatal intensive care units from 2016 to 2021

Katharine Press Callahan et al.

GENETICS IN MEDICINE (2022)

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Article Genetics & Heredity

The PrU: Development and validation of a measure to assess personal utility of genomic results

Erin Turbitt et al.

GENETICS IN MEDICINE (2022)

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Article Genetics & Heredity

Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Stacey Pereira et al.

GENETICS IN MEDICINE (2022)

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Article Health Care Sciences & Services

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation

Alison D. Archibald et al.

Summary: Reproductive genetic carrier screening provides information about the risk of having children with genetic conditions, and the Australian-funded Mackenzie's Mission aims to assess the feasibility and acceptability of a free, accessible screening program. The program involves screening for over 1200 genes associated with serious genetic conditions and offering comprehensive genetic counseling support.

JOURNAL OF PERSONALIZED MEDICINE (2022)

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Review Genetics & Heredity

Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

Kym M. Boycott et al.

Summary: The past decade has seen significant advancements in rare disease (RD) research, particularly in the field of genome-wide sequencing. The Care4Rare Canada Consortium has played a major role in identifying the molecular causes of unsolved RDs using exome and genome sequencing, achieving a high diagnostic success rate. The Consortium has also contributed to the development of data sharing platforms and catalyzed functional characterization research of novel genes. However, the challenge of solving all RDs remains, and further efforts are needed in leveraging clinical and 'omic data, exploring new technologies, and optimizing research protocols.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

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Article Genetics & Heredity

Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey

Stephen F. Kingsmore

Summary: This article discusses the urgent need for expanded newborn screening through genomic sequencing and introduces an international cooperative project for implementing newborn genome sequencing. The project aims to address genetic diseases through diagnosis and treatment and accelerate orphan drug development. The authors invite researchers and stakeholders worldwide to participate in the prospective clinical trial of the project.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2022)

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Article Genetics & Heredity

A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis

Suzannah Kinsella et al.

Summary: Cystic fibrosis (CF) is included in the UK national newborn screening program, but there are some issues with the program such as the need for repeat testing and parental anxiety. Wider genomic screening can address these problems. Through a dialogue with the public, it was found that there is a difference in preference regarding maximizing sensitivity and ensuring certainty of outcome, which requires time and information to make choices.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2022)

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Article Genetics & Heredity

(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada

Christine Michaels-Igbokwe et al.

Summary: This study retrospectively reviewed the diagnostic journeys of 299 children seeking diagnosis of a rare genetic disorder. It found that 30% of patients received a diagnosis during the study period, with an average of 5.4 tests per patient and 79% undergoing CMA.

GENETICS IN MEDICINE (2021)

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Article Genetics & Heredity

An online compendium of treatable genetic disorders

David Bick et al.

Summary: Health care providers often turn to internet resources for information on rare genetic disorders, but finding treatment information can be challenging due to scattered details across multiple websites and journals. A website and mobile application mentioned in the article aim to provide a convenient starting point for accessing treatment information and continuously updating existing entries.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2021)

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Article Endocrinology & Metabolism

An international classification of inherited metabolic disorders (ICIMD)

Carlos R. Ferreira et al.

Summary: The International Classification of Inherited Metabolic Disorders (ICIMD) is a comprehensive classification system involving input from a large number of experts and endorsement from major metabolic societies globally. It aims to improve understanding of the interconnections between different conditions sharing similar characteristics, and guarantees continued relevance through regular curation and expert advice.

JOURNAL OF INHERITED METABOLIC DISEASE (2021)

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Article Genetics & Heredity

Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project

Melissa A. Kelly et al.

Summary: Exome and genome sequencing are increasingly used in research and clinical care to provide clinically relevant information beyond the initial intent for sequencing. There is ongoing debate about sharing secondary findings with patients and participants, but a growing number of laboratories and research programs are reporting such findings. Proactive genomic screening at the population level is being considered, but requires scaling key elements of the genomic data evaluation process. One such program, MyCode, demonstrates the feasibility and benefits of population genomic screening in routine clinical care.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2021)

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Article Medicine, General & Internal

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

Damian Smedley et al.

Summary: The pilot study, involving 4660 participants with rare diseases, provided actionable diagnoses and identified three newly implicated disease genes, offering a road map for the larger implementation of genome sequencing in the setting of a national health service.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Review Public, Environmental & Occupational Health

Availability and funding of clinical genomic sequencing globally

Kathryn A. Phillips et al.

Summary: Next-generation genomic sequencing tests have gained global interest, with availability and funding varying across different regions and countries. Case studies from diverse healthcare systems illustrate the funding challenges and approaches used to address them, highlighting the need for more data and initiatives to better track and understand global NGS usage.

BMJ GLOBAL HEALTH (2021)

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Article Genetics & Heredity

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

Amy Nisselle et al.

Summary: This study developed Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) through literature review and a modified Delphi process. The final standards include requirements for the development, delivery, and evaluation of genomics education interventions, with the aim of promoting greater transparency, consistency, and comprehensiveness in reporting across diverse settings.

GENETICS IN MEDICINE (2021)

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Article Genetics & Heredity

DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

Michael F. Murray et al.

GENETICS IN MEDICINE (2021)

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Article Genetics & Heredity

Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights

Jennifer M. Yeh et al.

Summary: Genetic testing for newborns may reduce mortality associated with pediatric cancers and could be cost-effective as sequencing costs decline.

GENETICS IN MEDICINE (2021)

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Article Genetics & Heredity

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Monica H. Wojcik et al.

Summary: Most newborns in the study had negative results in both NBS and ES, showing consistency in identifying disease risks between the two methods. However, there were differences as ES could help detect genetic disease risks that are not included in conventional NBS programs.

GENETICS IN MEDICINE (2021)

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Article Genetics & Heredity

Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making

Daniela M. DeCristo et al.

Summary: 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.

GENOME MEDICINE (2021)

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Article Genetics & Heredity

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim et al.

Summary: The study reports findings from whole genome sequencing of 4437 individuals at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015, leading to molecular diagnoses for a portion of patients. Information sharing between teams was beneficial in clinical practice. Additionally, research resulted in the discovery of 17 new disease-causing genes.

GENOME MEDICINE (2021)

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Article Genetics & Heredity

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care

David Dimmock et al.

Summary: This study implemented rapid precision medicine based on rapid whole-genome sequencing for infants in the California Medicaid program, evaluating the clinical and economic impact. The results showed that this approach had clinical utility and reduced healthcare expenditures for infants in regional ICUs.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

Can you hear us now? The impact of health-care utilization by rare disease patients in the United States

Angela A. Navarrete-Opazo et al.

Summary: The study used 2016 HCUP databases to analyze health-care utilization, finding that rare diseases have higher costs and utilization rates compared to common conditions in the healthcare system.

GENETICS IN MEDICINE (2021)

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Article Pediatrics

Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project A Randomized Clinical Trial

Stacey Pereira et al.

Summary: In a randomized clinical trial of newborn genomic sequencing, there was no evidence of persistent negative psychosocial effect on families who received the sequencing or those who discovered a genetic disease risk for their infant.

JAMA PEDIATRICS (2021)

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Review Genetics & Heredity

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

Eleanor G. Seaby et al.

Summary: This article explores strategies to identify novel Mendelian genes and their impact on clinical care and therapeutics. It discusses the importance of data sharing, phenotype-driven approaches, patient-led approaches, large-scale genomic sequencing projects, constraint-based methods, integration of multi-omics data, and gene-to-patient methods. The health economic advantages of novel gene discovery and potential future methods for improved clinical outcomes are also considered.

FRONTIERS IN GENETICS (2021)

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Review Medicine, General & Internal

Principles of Genomic Newborn Screening Programs A Systematic Review

Lilian Downie et al.

Summary: Genomic newborn screening (gNBS) is crucial for optimizing the health and well-being of children and families, requiring evidence-based and beneficial programs. Key factors include ensuring equitable access, providing appropriate educational materials, and flexible informed consent. Transparency in the gene selection process is essential for testing, ensuring that parents value predictability over actionability.

JAMA NETWORK OPEN (2021)

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Article Genetics & Heredity

Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies

Chunmei Li et al.

Summary: Genetic testing plays a crucial role in addressing unexplained developmental disabilities and multiple congenital anomalies. Comprehensive sequencing can improve diagnosis but comes with higher cost. The study suggests that utilizing ES earlier in the diagnostic pathway may be cost-saving.

GENETICS IN MEDICINE (2021)

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Editorial Material Biotechnology & Applied Microbiology

How many rare diseases are there?

Melissa Haendel et al.

NATURE REVIEWS DRUG DISCOVERY (2020)

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Article Genetics & Heredity

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Lilian Downie et al.

GENETICS IN MEDICINE (2020)

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Review Biotechnology & Applied Microbiology

Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Erik Tambuyzer et al.

NATURE REVIEWS DRUG DISCOVERY (2020)

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Article Genetics & Heredity

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

Ilias Goranitis et al.

GENETICS IN MEDICINE (2020)

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Article Economics

Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Zoe P. Mackay et al.

VALUE IN HEALTH (2020)

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Article Genetics & Heredity

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Simon Easteal et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Article Genetics & Heredity

Genetics and pediatric hospital admissions, 1985 to 2017

Stephanie Gjorgioski et al.

GENETICS IN MEDICINE (2020)

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Article Medicine, General & Internal

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2020)

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Article Genetics & Heredity

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Tamara S. Roman et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Article Biochemistry & Molecular Biology

The role of exome sequencing in newborn screening for inborn errors of metabolism

Aashish N. Adhikari et al.

NATURE MEDICINE (2020)

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Review Genetics & Heredity

Clinical utility of genomic sequencing: a measurement toolkit

Robin Z. Hayeems et al.

NPJ GENOMIC MEDICINE (2020)

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Review Clinical Neurology

Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care

David C. Schorling et al.

JOURNAL OF NEUROMUSCULAR DISEASES (2020)

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Review Genetics & Heredity

Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia

Scott D. Grosse et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)

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Article Medicine, General & Internal

Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States

Gregory F. Guzauskas et al.

JAMA NETWORK OPEN (2020)

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Article Medicine, Research & Experimental

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

Stephen F. Kingsmore et al.

COLD SPRING HARBOR MOLECULAR CASE STUDIES (2020)

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Article Genetics & Heredity

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

Casie A. Genetti et al.

GENETICS IN MEDICINE (2019)

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Article Pediatrics

An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

Laura Milko et al.

JOURNAL OF PEDIATRICS (2019)

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Article Genetics & Heredity

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes

Deborah Schofield et al.

GENETICS IN MEDICINE (2019)

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Article Genetics & Heredity

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare

Zornitza Stark et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Review Genetics & Heredity

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Siddharth Srivastava et al.

GENETICS IN MEDICINE (2019)

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Article Medicine, General & Internal

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia

Ravi Savarirayan et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

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Editorial Material Multidisciplinary Sciences

Making precision medicine personal for cystic fibrosis

Candela Manfredi et al.

SCIENCE (2019)

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Article Genetics & Heredity

Mendelian Gene Discovery: Fast and Furious with No End in Sight

Michael J. Bamshad et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Obstetrics & Gynecology

Infant mortality: the contribution of genetic disorders

Monica H. Wojcik et al.

JOURNAL OF PERINATOLOGY (2019)

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Article Medicine, General & Internal

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

J. Kim et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

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Article Genetics & Heredity

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Ozge Ceyhan-Birsoy et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Genetics & Heredity

Integrating Genomics into Healthcare: A Global Responsibility

Zornitza Stark et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Pediatrics

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project

Ingrid A. Holm et al.

PEDIATRICS (2019)

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Article Pediatrics

Challenging the Current Recommendations for Carrier Testing in Children

Grace E. VanNoy et al.

PEDIATRICS (2019)

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Article Medicine, General & Internal

Consolidated principles for screening based on a systematic review and consensus process

Mark J. Dobrow et al.

CANADIAN MEDICAL ASSOCIATION JOURNAL (2018)

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Review Biochemistry & Molecular Biology

Recent advances in developing therapeutics for cystic fibrosis

Lisa J. Strug et al.

HUMAN MOLECULAR GENETICS (2018)

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Article Ophthalmology

Screening Children at Risk for Retinoblastoma Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists

Alison H. Skalet et al.

OPHTHALMOLOGY (2018)

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Article Medicine, Research & Experimental

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol

Laura Milko et al.

TRIALS (2018)

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Editorial Material Medicine, General & Internal

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

Clare Turnbull et al.

BMJ-BRITISH MEDICAL JOURNAL (2018)

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Editorial Material Medicine, General & Internal

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

Clare Turnbull et al.

BMJ-BRITISH MEDICAL JOURNAL (2018)

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Article Genetics & Heredity

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Michelle M. Clark et al.

NPJ GENOMIC MEDICINE (2018)

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Article Medicine, General & Internal

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

K. Splinter et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

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Article Genetics & Heredity

A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosis

Yvonne Bombard et al.

GENETICS IN MEDICINE (2017)

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Article Genetics & Heredity

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Ashleigh R. Pavey et al.

GENETICS IN MEDICINE (2017)

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Article Genetics & Heredity

A curated gene list for reporting results of newborn genomic sequencing

Ozge Ceyhan-Birsoy et al.

GENETICS IN MEDICINE (2017)

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Article Multidisciplinary Sciences

Prevalence and architecture of de novo mutations in developmental disorders

Jeremy F. McRae et al.

NATURE (2017)

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Letter Oncology

ClinVar Is a Critical Resource to Advance Variant Interpretation

Heidi L. Rehm et al.

ONCOLOGIST (2017)

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Article Pediatrics

Newborn Sequencing in Genomic Medicine and Public Health

Jonathan S. Berg et al.

PEDIATRICS (2017)

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Article Public, Environmental & Occupational Health

Whole-Genome Sequencing in Newborn Screening-Attitudes and Opinions of Bulgarian Pediatricians and Geneticists

Georgi Iskrov et al.

FRONTIERS IN PUBLIC HEALTH (2017)

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Review Pediatrics

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

Alessandro Borghesi et al.

ITALIAN JOURNAL OF PEDIATRICS (2017)

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Article Genetics & Heredity

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

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Article Genetics & Heredity

Genomic newborn screening: public health policy considerations and recommendations

Jan M. Friedman et al.

BMC MEDICAL GENOMICS (2017)

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Article Genetics & Heredity

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research

David J. Carey et al.

GENETICS IN MEDICINE (2016)

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Article Pediatrics

Parental Views on Expanded Newborn Screening Using Whole-Genome Sequencing

Galen Joseph et al.

PEDIATRICS (2016)

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Article Pediatrics

Potential Psychosocial Risks of Sequencing Newborns

Leslie Ann Frankel et al.

PEDIATRICS (2016)

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Article Pediatrics

Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid

Megan A. Lewis et al.

PEDIATRICS (2016)

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Review Pharmacology & Pharmacy

Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications

Claire Edmondson et al.

THERAPEUTIC ADVANCES IN CHRONIC DISEASE (2016)

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Article Biochemistry & Molecular Biology

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

Heidi Carmen Howard et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

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Article Genetics & Heredity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards et al.

GENETICS IN MEDICINE (2015)

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Review Obstetrics & Gynecology

Current status of newborn screening worldwide: 2015

Bradford L. Therrell et al.

SEMINARS IN PERINATOLOGY (2015)

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Article Genetics & Heredity

Emergency medical genomes: a breakthrough application of precision medicine

Stephen F. Kingsmore et al.

GENOME MEDICINE (2015)

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Article Genetics & Heredity

Parents are interested in newborn genomic testing during the early postpartum period

Susan E. Waisbren et al.

GENETICS IN MEDICINE (2015)

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Article Genetics & Heredity

Genetics Professionals' Opinions of Whole-Genome Sequencing in the Newborn Period

Elizabeth Ulm et al.

JOURNAL OF GENETIC COUNSELING (2015)

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Article Biochemistry & Molecular Biology

Public views on participating in newborn screening using genome sequencing

Yvonne Bombard et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2014)

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Article Genetics & Heredity

Decision-making process for conditions nominated to the Recommended Uniform Screening Panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

Alex R. Kemper et al.

GENETICS IN MEDICINE (2014)

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Article Genetics & Heredity

Parents' interest in whole-genome sequencing of newborns

Aaron J. Goldenberg et al.

GENETICS IN MEDICINE (2014)

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Article Pediatrics

Ethical and Policy Issues in Genetic Testing and Screening of Children

Mary E. Fallat et al.

PEDIATRICS (2013)

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Article Genetics & Heredity

Points to consider in the clinical application of genomic sequencing

GENETICS IN MEDICINE (2012)

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Article Health Policy & Services

Outcomes for Implementation Research: Conceptual Distinctions, Measurement Challenges, and Research Agenda

Enola Proctor et al.

ADMINISTRATION AND POLICY IN MENTAL HEALTH AND MENTAL HEALTH SERVICES RESEARCH (2011)

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Editorial Material Pediatrics

Guidelines for genetic testing of healthy children - addendum

Laura Arbour et al.

PAEDIATRICS & CHILD HEALTH (2008)

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Editorial Material Medicine, General & Internal

Maximising benefit and minimising harm of screening

J. A. Muir Gray et al.

BRITISH MEDICAL JOURNAL (2008)

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Article Pediatrics

Status of newborn screening programs in the United States

BL Therrell et al.

PEDIATRICS (2006)

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Article Pediatrics

California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry

L Feuchtbaum et al.

PEDIATRICS (2006)

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Article Genetics & Heredity

Clinical outcomes of a genomic screening program for actionable genetic conditions

Adam H. Buchanan et al.

GENETICS IN MEDICINE

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