Both programs seek to achieve early diagnosis by detecting a range of disorders where an existing treatment can be given as early as possible

Two separate genetic sequencing projects—one in the United Kingdom and one in New York City—aim to perform whole-genome sequencing for clinical laboratory diagnostic purposes on 100,000 newborns each to identify up to 200 rare genetic disease that are treatable with early diagnosis and intervention.

Genomics England announced its Newborn Genomes Program in 2022 and plans to start signing up expectant parents for the genetic sequencing project later this year, an article in Science reported. Parents will be invited to participate in the $129 million pilot program through the UK’s National Health Service (NHS) with the goal of enrolling 100,000 newborns over the next two years. 

In the US, the Guardian Study (Genomic Uniform-screening Against Rare Diseases In All Newborns) was launched last year in New York City. The program will run for four years and sequence the DNA of 100,000 newborns looking for 160 rare genetic diseases. “Parents can opt to add 100 neurodevelopmental disorders that can’t be cured, but for which speech and physical therapy could help,” Science noted.

Dark Daily wrote about the Guardian Study in “Two New York City Hospitals Join New Genetic Study to Perform Whole Genome Sequencing on 100,000 Newborn Babies to Search for 250 Rare Diseases.”

More than 200 babies have already been enrolled in the Guardian study, and about 70% of those invited to participate have agreed to do so, according to GenomeWeb

“I think expanding the number of diseases we look for could make a radical improvement in the way we diagnose and treat children with rare diseases,” said molecular geneticist Wendy Chung, MD, PhD, Director of the Clinical Genetics Program at New York Presbyterian Hospital/Columbia University Medical Center, in a press release. Clinical laboratories that perform newborn screenings may soon have new genomic screening tools for a larger number of rare genetic disorders. (Photo copyright: Columbia University.)

Giving Parents the Ability to Make Informed Decisions

In many countries, newborns are screened for several dozen genetic illnesses via biochemical tests using a drop of blood collected from the baby’s heel. Whole-genome sequencing could potentially detect more disorders and allow for earlier care and treatments to avoid permanent disability or death.

Parents enrolled in the US/UK genomics sequencing programs will receive results for as many as 200 genetic diseases that are known to be caused by genetic variants and which typically display symptoms before the age of five. All the illnesses are treatable with remedies ranging from a simple vitamin supplement to a bone marrow transplant.

“For the parents who may be offered whole genome sequencing for their babies as part of our pilot, they need to know which of these many conditions will be looked for, so that they can make an informed decision about whether or not to take part in the study,” said pediatrician and geneticist David Bick, MD, Principal Clinician for the Newborn Genomes Program, in a Genomics England press release.

Parents will not receive data regarding gene variants with unknown risks or variants that only cause disease in adulthood. 

Detecting a Range of Genetic Disorders in Newborns

The UK’s Newborn Genomes Program expects to identify genetic disease in at least 500 newborns. Researchers involved in the project estimate that utilizing genetic sequencing in newborns could detect those diseases in up to 3,000 babies if used across the country.

“The primary goal of the program is to detect a range of disorders where we already have an intervention that could be given at the earliest possible point in life to reduce disability or potentially to avoid harm,” said Sir Mark Caulfield, MD, Director of the William Harvey Research Institute at Queen Mary University of London and Chief Scientist for Genomics England, in a Queen Mary University press release.

“It turns out that approximately one in 190 births (circa 10 babies born every day in the UK) has one of these problems, and if the intervention is employed, this could be life changing. The majority of these interventions are dietary shifts or vitamin supplements, and only 8% are expensive treatments, for example, gene therapies or transplantation,” Caulfield noted. “The children may not be cured, but the interventions may reduce disability or even allow a normal life, so getting these life-changing opportunities to children at the earliest point is so important.”

The New York City Guardian Study, launched last year and led by Wendy Chung, MD, PhD, molecular geneticists and Director of the Clinical Genetics Program at New York Presbyterian Hospital/Columbia University Medical Center, will also perform genome sequencing on 100,000 newborns.

The US initiative is using genomic sequencing to screen for 250 medical conditions that are not currently detectable in newborn screenings in New York. Like the UK program, these disorders are treatable and symptomatic before the age of five. The goal is to diagnose these illnesses earlier to allow for early treatment and better health outcomes. 

“I think expanding the number of diseases we look for could make a radical improvement in the way we diagnose and treat children with rare diseases”, said Chung in a Columbia University press release. “Families and pediatricians don’t need to go through those diagnostic odysseys anymore with the genomic technology we now have. We can make the diagnosis at birth.

“I think genomic screening will also make sure we leave no baby behind. It will provide equitable access to a diagnosis,” Chung added. “We want to address health disparities, which we’ve seen happen after screening for SCID (severe combined immunodeficiency disorders) was added to state newborn screening panels. When every newborn is screened, the family’s socioeconomic status is irrelevant.”

Saving Children from Lifelong Disease

The US and UK genomics sequencing programs may have considerable influence on encouraging more newborn screening all over the world. Technological advancements in recent years have dramatically reduced genomic sequencing costs.

Additionally, sequences can be done faster and more accurately, and the technology is enabling complex analysis of data in ways that expands the information contained in the genome. This could lead to life-saving breakthroughs in treatment for many rare genetic disorders.

These developments may also encourage more clinical laboratories within the United States to consider offering a genome sequencing service for newborn screening. With hundreds of diseases now detectable through genetic technology, screening a newborn’s genome for mutations could provide more accurate and faster diagnosis of illnesses and potentially help more children avoid serious diseases.   

—JP Schlingman

Related Information:

Sequencing Projects Will Screen 200,000 Newborns for Disease Genes

Why Genome Sequencing Is So Controversial: 100,000 Newborns This Year Will Be Tested in the UK, Joining NYC

100,000 Newborn Babies Will Have Their Genomes Sequenced in the UK. It Could Have Big Implications for Child Medicine

Newborn Genome Sequencing—Science vs Science Fiction

Genomics England Seeks Views on Choosing Conditions for Newborn Screening

UK Government Launches Newborn Genomes Program

Can Genomic Screening of Newborns Help More Children Born with Rare Diseases?

GUARDIAN Study to Explore Newborn Screening by Genome Sequencing in 100K Babies in NYC

Two New York City Hospitals Join New Genetic Study to Perform Whole Genome Sequencing on 100,000 Newborn Babies to Search for 250 Rare Diseases