Screening for rare genetic diseases becomes routine across Britain for critically ill infants as NHS offers new precision medicine service
A precision medicine program development in England will draw considerable attention to using rapid whole genome sequencing (rWGS) for newborn screening (NBS). The new program will roll out rWGS for detecting rare, genetic conditions in critically ill infants. It is believed to be the first program of its kind to become available at a national level and represents a big step toward public availability of precision medicine.
Scientists in Britain have been working to identify the presence of over 6,000 different genetic diseases. Rapidly identifying rare genetic conditions has been difficult using traditional testing, according to experts working to implement rWGS at national scale, and rapid whole genome sequencing is seen as one way to improve outcomes. Many of these genetic conditions are potentially fatal but treatable once identified.
In England, rWGS Tests Critical Timing of Diagnosis
“When a child comes to intensive care timing is everything, so finding the right diagnosis and treatment as quickly as possible is absolutely vital,” said Amanda Pritchard, NHS’s chief executive, in an NHS press release. “I am delighted that the pioneering work of the NHS’ Genomic Medicine Service is transforming the way we diagnose and treat patients in England.”
Using a simple blood test, the new newborn genetic screening service in England is expected to benefit more than 1,000 critically ill infants each year, potentially saving their lives. “The rapid whole genome testing service will transform how rare genetic conditions are diagnosed,” explained Emma Baple, BSc, MBBS, MRCPCH, PhD, leader of the National Rapid Whole Genome Sequencing Service. “We know that with prompt and accurate diagnosis, conditions could be cured or better managed with the right clinical care, which would be life-altering—and potentially life-saving—for so many seriously unwell babies and children.”
3-Pronged Approach for NHS Newborn Genetic Screening Program
NHS’s new genetic screening program for infants, which took five years to develop, includes three key commitments:
- Establishing an advisory board to consider new technologies, genomic research, patient data protection, and optimizing result reporting.
- Expanding genomic testing into NHS diagnostic infrastructure.
- Improving the NHS workforce’s knowledge and understanding of genomics. This is planned to include the development of a Genomic Training Academy.
Britain is becoming increasingly recognized as a leader in making precision medicine publicly available. The new NHS program further solidifies a position as one of the leading nations in the field of personalized medicine. “It also builds on our Long Term Plan commitment to deliver the most medically advanced services possible for all our patients—boosting the life chances of thousands across the country,” Pritchard said.
Newborn Genetic Screening Programs in US
The United States does not have a national equivalent to the NHS’s new program; however, some states have begun adopting improved rWGS coverage for sick infants. In 2022, California joined four other states to begin offering coverage for rWGS screening for critically ill infants. How these tests are utilized and funded remains to be seen.
California’s Rady Children’s Institute for Genomic Medicine has been a national leader in promoting the availability of rWGS for infants who potentially have rare diseases. In August 2022, Rady Children’s Institute for Genomic Medicine announced new research that demonstrated a scalable prototype for a newborn screening protocol using rWGS.
The new prototype was demonstrated to identify rare genetic conditions that were missed using conventional screening methods. Additionally, this method was shown to shorten the time to diagnosis by a median of 73 days in a subsegment of patients.
“This [newborn screening]-rWGS system is designed to complement the existing newborn screening process and has the potential to eliminate the diagnostic and therapeutic odyssey that many children and parents face,” said Stephen Kingsmore, MD, DSc, President and CEO of RCIGM and lead author of the recent study. “Currently, only 35 core genetic disorders are recommended for newborn screening in the United States, but there are more than 7,200 known genetic diseases.
“Outcomes remain poor for newborns with a genetic disease because of the limited number of recommended screenings,” Kingsmore continued. “With NBS-rWGS, we can more quickly expand that number and therefore potentially improve outcomes through precision medicine.”
As Precision Medicine Institute has reported, rapid whole genome sequencing has been a target for Medicaid funding, medical policy, and legislation in the US for several years now. With Britain now making a large leap to implementing national newborn screening that uses rWGS, and leading institutions in the US demonstrating their testing designs, it will be timely for healthcare leaders on the sidelines to consider how this genomic technology might fit into their clinical practice.