ICoNS has contributing partners worldwide
ICoNS is harmonizing international newborn sequencing for preventive genomics, which can reduce suffering and save lives.
The BabySeq Project led by Robert Green at Brigham and Women’s Hospital, the Broad Institute and Harvard Medical School was the first randomized clinical trial designed to measure the medical, behavioral and economic outcomes of using comprehensive genomic sequencing in newborns. The first phase of this project revealed unanticipated monogenic disease risks in 11% of apparently healthy newborn babies.
BabySeq is currently enrolling 1,000 families from diverse populations and using whole genome sequencing to assess clinical utility and cost effectiveness.
BeginNGS, a consortium spearheaded by Stephen Kingsmore at Rady Children’s Institute for Genomic Medicine (RCIGM) in collaboration with Alexion Pharmaceuticals, Travere Therapeutics, Inozyme Pharma, Fabric Genomics, Genomenon, Illumina, and TileDB, wants to provide a platform for implementing whole-genome sequencing for newborn screening, disease management and interventions, and rare disease drug development for use by partners around the world.
BeginNGS plans to enroll about 2,000 infants at seven or more sites in the US and Greece and expand to 500 disorders.
Genomics England’s Newborn Genomes Programme is delivering a research study that will sequence the genomes of 100,000 babies to evaluate the utility and feasibility of using whole genome sequencing newborns for approximately 200 childhood-onset rare genetic conditions. It will also aim to understand how babies’ genomic data could be used for discovery research; and the potential risks, benefits, and broader implications of storing a baby’s genome over their lifetimes. a baby’s genome over their lifetime.
The study will begin at the end of 2023 in England only, and will be embedded in a select number of NHS hospitals.
The Early Check study is a statewide, consented newborn screening pilot project conducted in North Carolina. Early Check is led by RTI International (Holly Peay, PI) in partnership with the University of North Carolina at Chapel Hill (Cindy Powell, PI) and the North Carolina State Laboratory of Public Health. In 2018, the project began screening a small number of genetic conditions with a goal of informing newborn screening (NBS) policy and practice. By early 2023, Early Check had returned results to over 25,000 babies; demonstrated successful recruitment, education, and electronic consent approaches across a diverse state; and evaluated genetic counseling, confirmatory testing, and follow up protocols.
Early Check is now poised to study the acceptability, feasibility, implementation, and impact of integrating genome sequencing in NBS. Beginning in late 2023, parents in North Carolina will be offered screening for a large panel of pediatric-onset, actionable genetic conditions. Parents will have options to accept a second panel of less-actionable conditions and a genetic risk score for type 1 diabetes (T1D). Our protocol includes community engagement, formative research, the selection of gene/condition pairs by an expert committee using a customized semi-quantitative framework, and extensive evaluation. Our collaboration with the North Carolina State Laboratory of Public Health ensures that our study answers critical questions about the potential for genome sequencing as a first-tier test in public health newborn screening. Our novel integration of genetic risk scores informs longer-term precision public health practice.
The Early Check sequencing study is currently supported by The Juvenile Diabetes Research Foundation, Helmsley Charitable Trust, Janssen Pharmaceuticals, and Travere Therapeutics.
The GUARDIAN project (Genomic Uniform-screening Against Rare Diseases in All Newborns), led by Wendy Chung at Columbia University Irving Medical Center in partnership with New York-Presbyterian, the New York Department of Health, Sema4’s GeneDx, and Illumina, hopes to enroll 100,000 newborns over the next four years.
The study, funded by Sema4, Illumina, and philanthropic sources, plans to use whole-genome sequencing to assess risk for an initial 250 conditions, the majority of them treatable, a number that will increase over time.
BabyBeyond is a completed project that ran from 2016-2019 and offered 106 parents predictive health information for childhood conditions for their new babies diagnosed with hearing loss. One third of parents declined predictive health information, two thirds opted to have this additional information. Some wanted as much information as possible including about untreatable childhood diseases. There were low rates of decision regret amongst all participants providing evidence that predictive health information in newborns is unlikely to cause harm.
Screen4Care, coordinated by Alessandra Ferlini and Nicolas Garnier, is a private-public partnership funded by the European Union, the pharmaceutical industry, and academic institutions plans to generate targeted or whole-genome sequencing data for at least 18,000 infants and look for treatable as well as otherwise actionable diseases.
In addition, it wants to use new algorithms to detect early disease symptoms in babies’ electronic health records.
The ScreenPlus study is a consented, multi-disorder, multi-sponsored pilot newborn screening program. Implemented in partnership with the New York State Newborn Screening (NBS) Program, ScreenPlus aims to screen over 100,000 babies from diverse populations for an initial panel of 14 rare, treatable disorders in addition to the those already on the routine NBS panel.
Parents who give birth at nine pilot hospitals in NY are invited to enroll their newborns in ScreenPlus at no cost, using no extra blood. ScreenPlus uses an analyte-first, multi-tiered screening platform to improve accuracy. Babies identified with ScreenPlus disorders will be followed over time, providing critical data about the natural history of pre-symptomatic disease.
Additionally, we are using our ScreenPlus infrastructure to perform mixed-methods studies focused on the complex ethical, legal and social issues associated with screening newborns for complex disorders. Through these studies, we will engage thousands of parents whose opinions will generate critical, objective data to guide the future expansion of NBS in an ethically sound manner.
BabyScreen+ is a study investigating the use of whole genome sequencing (WGS) for newborn screening in a prospective cohort of 1,000 infants born in the state of Victoria, Australia. The study is funded by the Medical Research Future Fund, as part of the Genomics Health Futures Mission grant opportunity for establishing new models of genomic newborn screening.
Parents will be recruited prospectively during pregnancy, and WGS will be performed in parallel with standard newborn screening. The clinically accredited WGS test will screen babies for around 500 treatable, childhood-onset conditions. The study aims to assess the feasibility of delivering genomic newborn screening and its acceptability to Australian healthcare professionals, parents and the general public. In addition, the study will evaluate the diagnostic and clinical utility of genomic newborn screening, cost effectiveness, ethical aspects, psychosocial impacts and implementation considerations.
The study is co-led by Associate Professor Sebastian Lunke and Professor Zornitza Stark at the Murdoch Children’s Research Institute in Melbourne.
South Australia, through a partnership of SA Pathology, the Women’s and Children’s Hospital and The University of Adelaide, is trialling a novel approach to newborn screening.
NewbornsInSA is integrating untargeted metabolomics and whole-genome sequencing to identify treatable conditions at birth. Over the course of the study, starting in 2023, up to 40,000 South Australian families will have the opportunity to enrol in this innovative trial. The team of clinical leads, representing all major paediatric disciplines, will ensure diagnoses are immediately translated into earlier interventions to maximise positive health outcomes. The health impacts of this novel approach will be assessed against current standard-of-care.
The study is funded through a NHMR Medical Research Future Fund from the Australian Government with financial and in-kind support from the following research partners: AusHealth, Australian Genomics, the Department of Health of Western Australia, Illumina Australia, Rare Voices Australia, Sanfilippo Children’s Foundation, and the Immune Deficiency Foundation Australia.
BabyDetect project aims to conduct a pilot program in Southern Belgium to explore the feasibility and acceptability of first-tier genomic NBS.
We have developped a targeted NGS (tNGS) approach to screen neonates. A board of dedicated professionals, both scientists and medical doctors, succeeded in compiling a list 126 early-onset, severe, treatable genetic disorders. A tNGS panel of 363 genes was then designed and synthesized using Twist Bioscience technology. Our ethics committee approved the study, allowing electronic consenting.
From September 2022, we have started consenting and enrolling newborns in frame of this project. In a period of 6 months we obtained digital informed consent from more than 1200 neonates born in one pilot maternity at Citadelle Hospital (CHR) in Liege. Sequencing and analyzing of these samples was ensured using Illumina platforms and Alissa Interpret interpretation software.
Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there are many challenges to overcome before this technology can routinely be applied in the healthy population. The Age-Based Genomic Screening (ABGS) study is investigating a novel alternative to genome-scale sequencing at birth that aims to provide highly actionable genetic information to parents over the course of their child’s routine health care. ABGS utilizes an established metric to identify conditions with high clinical actionability and incorporates information about the age of onset and age of intervention to determine the optimal time to screen for any given condition. Ongoing partnerships with parents and providers throughout the study will inform the co-creation of educational resources and strategies to address potential implementation barriers. Implementation science frameworks and informative empirical data will be used to evaluate strategies to establish this unique clinical application of targeted genomic sequencing. A pilot project conducted in primary care pediatrics clinics will assess patient and implementation outcomes, parent and provider perspectives, and feasibility of ABGS. Ultimately, a validated, stakeholder-informed, and practical ABGS program will include hundreds of conditions that are actionable during infancy and childhood, setting the stage for a longitudinal implementation that can assess clinical and health economic outcomes.
NEW_LIVES is an interdisciplinary research group, funded by Germany's Federal Ministry of Education and Research, that unites researches from the fields of medical ethics, law, medical psychology, human genetics, and pediatrics at the Universities of Heidelberg and Mannheim. Its overarching task is the development of normative guidelines for the implementation of a genomic newborn screening program in Germany, with a focus on issues such as defining selection criteria for target diseases, determining the requirements of family genetic counseling and informed consent, and assessing the ethical-legal framework for the secondary use of patient data in research and related data protection needs. As part of this work, we are undertaking a clinical implementation study aimed at defining and testing a scalable workflow for a future screening program.
After a social acceptability study of professionals and the parents on the expansion of newborn screening through new genetic technologies carried out between 2020 and 2023 (SeDeN project), and with the support of a multidisciplinary team led by Pr Christel Thauvin and Pr Laurence Faivre (Dijon, France), and of the French Newborn Screening Society (President Pr Frédéric Huet, Dijon, France), are now developing the PERIGENOMED (PERInatal GENOmic MEDicine) project.
The PERIGENOMED (PERInatal GENOmic MEDicine) project aims to identify and remove the barriers (technological, organizational, information for parents and training for professionals, etc.) raised by the use of genome sequencing in newborn screening, and to study its acceptability, feasibility, and interest for the care and treatment of children with diseases in France.
PERIGENOMED will extend the current French newborn screening from 13 rare diseases to more than 150 rare genetic diseases for 20,000 newborns, by analyzing selected genes from genome sequencing followed by bioinformatics filters (in-silico panel). These genes are responsible for treatable/actionable rare diseases for which there is a substantial early benefit for the child (before the age of 5) to be diagnosed by genomic newborn screening, such as the administration of treatment in the presymptomatic phase, anticipated adapted management, the entry in an existing therapeutic trial, etc...
The FirstSteps initiative is a newborn genome screening program in Greece. It aims to establish universal newborn genome screening (NGS) as the standard of care within five years. Additionally, it aims to establish Greece as a hub for drug development and discovery in rare diseases.
The Phase I clinical trial, sponsored by Greece's National Organization of Public Health (EODY), is currently underway at three leading academic medical institutions across Greece. The trial will involve whole genome sequencing of up to 1,000 newborns, with an analysis of 385 genes covering over 500 genetic diseases where early-life interventions are available.
“One can imagine the day that 99% of newborns will have their genomes sequenced immediately at birth.”
