For the tens of millions of Americans affected by a rare disease, their genes often hold the key to getting the answers they desperately need; from helping them obtain an accurate diagnosis, to identifying which treatments they are likely to respond to. However, accessing these vital genetic insights has not always been prioritized by healthcare providers and payers. Fortunately, this is starting to change.
After leading Baylor Genetics for nearly a decade, I have seen firsthand how powerful these genetic insights can be. They transform lives, guide clinical decisions, and bring long-awaited answers to patients and their families.
Baylor Genetics’ core mission is rooted in pushing the boundaries of science and breaking barriers to accelerate access to critical health information. With that, the future of diagnosing rare diseases will depend on our ability to ensure that genomic sequencing becomes standard of care.
Pediatric patients and the diagnostic odyssey
About 80% of rare diseases have a genetic cause, and almost 70% of which present in childhood. For many, the road to diagnosis, often referred to as the “diagnostic odyssey” can take years, is costly, and filled with uncertainty. Unlocking genetic insights for pediatric patients can often lead to a much more expedient and sometimes lifesaving diagnosis.
For children suffering from a rare disease, the diagnostic odyssey that leads to a correct diagnosis averages more than four years but is considerably longer for some. Tragically, approximately 30% of children with rare diseases die before reaching the age of five.
With advances in science, advanced precision diagnostics can shorten a diagnostic odyssey by replacing years of inconclusive tests with a definitive answer. Finally, this course of action is getting the endorsement it warrants.
2025 milestones for pediatric genetic testing
Florida lawmakers passed The Sunshine Genetics Act in July. This landmark initiative to advance early childhood healthcare through genomics creates a statewide pilot program, led by the Florida Institute for Pediatric Rare Diseases at Florida State University, to provide voluntary, no-cost genomic sequencing for all newborns in the state. The goal is to identify serious but treatable genetic conditions before symptoms appear.
By offering genomic sequencing shortly after birth, the program empowers families with early genetic insights that can lead to faster diagnoses, timely interventions, and significantly improved outcomes. This investment in precision medicine not only improves care but helps families avoid years of diagnostic odyssey. The Sunshine Genetics Act positions Florida as a leader in proactive, equitable, and life-changing pediatric care.
One month prior, the American Academy of Pediatrics (AAP) recommended genome and exome sequencing as first-tier tests for children with certain developmental delays. This aligns with existing guidance from the American College of Medical Genetics and Genomics to further reinforce that these laboratory technologies are clinically indicated to guide patient care, improve outcomes, and reduce long-term costs. These recommendations also make the case to strengthen insurance coverage for genomic sequencing.
Both The Sunshine Genetics Act and AAP’s endorsement mark a pivotal shift in pediatric genetic evaluation standards. AAP’s endorsement marks a pivotal shift in pediatric genetic evaluation standards.
Final words
The transition from viewing genomic sequencing as a last resort to a frontline tool for diagnosis and care for rare disease marks an important shift in the healthcare industry. These milestones can empower physicians, when supported by genetics professionals, with access to earlier and more comprehensive insights that guide clinical decisions for patients and their families, marking a critical step toward faster diagnoses and improved outcomes.
I am excited for what the future holds and optimistic as more patients and families are able to benefit from the value that genetic insights can provide.
Kengo Takishima is chairman and CEO at Baylor Genetics.
