Rapid Whole Genome Sequencing may be the future for Newborn Screening, and Rady Children’s Institute for Genomic Medicine in San Diego is paving the way. Their pilot study, called BeginNGS, can detect more than four hundred serious or fatal – but treatable – conditions, allowing for early intervention and more lives saved. In comparison, the current Newborn Screening test can only test for about eighty conditions.
Most rare disease families endure a long diagnostic odyssey that wastes precious time, and this only begins after symptom onset. Yet, in the case of leukodystrophies, once symptoms appear it’s usually too late for treatment. Diagnosing such conditions at birth would be a game changer and would save thousands of lives.
“One of the challenges worldwide is that [drug development, genetic research, advocacy] has been viewed as a competitive sport; it’s time, I think, to say that this is no longer an era to do so. Resources are limited.Dr. Stephen Kingsmore, ASGCT 2022
There’s room for all of us to be famous, if that’s what we want, or to do a lot of good, if that’s what we want, or to sell a lot of drugs, if that’s what we want. But, each day in the U.S. thousands of children are dying needlessly with approved therapeutics available for them that they’re not actually being prescribed and we need to fix that.
There is an urgency to this, a huge, gnawing, awful urgency to this.”
How would this work? In the pilot study, those who opt-in would have Rapid Whole Genome Sequencing (rWGS) done alongside traditional Newborn Screening. This means families receive their baby’s results in a few days. Parents receive information about the condition if a disease-causing mutation is identified and learn what can be done for it. For some conditions, the treatment is a daily vitamin for a change in diet. For instance, others conditions, like leukodystrophies, require gene therapy or hematopoietic stem cell transplants. This genomic information can be powerful in ensuring that babies receive the opportunity to access available treatments and live healthy lives.
Many different people are involved in this process as you can see in the graphic below:
We are excited that Metachromatic Leukodystrophy is part of the BeginNGS pilot and hope to see other forms of Leukodystrophy added in the future.
While rWGS is likely going to become part of Newborn Screening in the future, our advocacy is still important. Learn more about Newborn Screening advocacy here!
For more information on Rapid Whole Genome Sequencing, visit Rady Children’s Institute for Genomic Medicine.
“By rewriting the beginning, we can help families end their diagnostic and therapeutic odysseysDr. Stephen Kingsmore
so they can fill their stories with hope.”