As parents, hearing a sentence like, “I am so sorry, we have done everything we could, but we simply do not have a diagnosis for your child,” from a doctor is among the worst scenarios imaginable. And yet, to this day it happens all too often. A delay in proper disease diagnosis can have devastating consequences for rare-disease patients, either worsening their conditions, prolonging testing and treatment to identify their diagnosis or leading to death. Today, for a person living with a rare disease, it takes an average of six years to receive an accurate diagnosis with more than 40 percent of patients initially being misdiagnosed.
The good news is — we are now able to detect rare childhood diseases much more often and reliably than only a few years ago. One reason for that are novel technologies such as rapid whole genome sequencing (rWGS). Using rWGS, experts at Nicklaus Children’s Hospital in Miami are able to have an in-depth look at the entirety of genes that make up the genome of a child. By doing that, they may be able to identify genetic mutations that could be the root cause of a given condition or disease. In fact, Nicklaus Children’s led a pilot program, supported by the State of Florida — called Project Baby Manatee — that showed rWGS being an effective way to help in the identification of rare genetic diseases. Parents desperate for a diagnosis can now receive one within days, reducing the unknown by nearly five months. That’s five months sooner knowing the diagnosis for their child, five months sooner of less unnecessary testing, diagnostics and failed treatments, five months sooner of not worrying and not knowing what might be.
In the state of Florida, rWGS will now be more easily accessible for parents whose children have undiagnosed diseases. In mid-June, Governor Ron DeSantis signed a budget which included funding for the Andrew John Anderson Rapid Whole Genome Sequencing Program, championed by Speaker Paul Renner and Representative Adam Anderson, which will greatly benefit children and families who are desperately waiting for answers about an undiagnosed or rare illness and treatment path. The program will provide funding for the Agency for Health Care Administration to add rapid whole genome sequencing as a covered fee-for-service benefit for enrollees who are 20 years of age or younger, have an undiagnosed condition and are receiving inpatient treatment in a hospital ICU. This means more kids in our state will now have access to this unique test to more quickly determine an unknown diagnosis or rare diagnosis.
“We are incredibly grateful for Speaker Renner and Representative Anderson paving the way to advancing children’s health in our state,” said Matthew A. Love, president and CEO of Nicklaus Children’s Health System. “Rapid whole genome sequencing is a game changer for parents who are all too often on an odyssey to figure out what is affecting their child’s health and I would like to thank our Speaker Renner and Representative Anderson and our entire legislature and Governor who made the Andrew John Anderson Rapid Whole Genome Sequencing Program possible. This is making a real difference in the lives of so many children and their families,” Love said.
In addition to the burdens on families, diagnostic delays are extremely costly for the healthcare system and ultimately on our state. Shortening the time to diagnosis is cost effective, produces cost savings for our state of nearly $16 million per year, and can help lead to more informed decision-making by both healthcare providers and patients with a rare disease.
To learn more about rWGS at Nicklaus Children’s, please visit nicklauschildrens.org/medical-services/genomics