A genome-first multiomic approach to diagnosis

Did you know that one in 10 Americans have a rare disease and it can take five or more years, on average, for a person with a rare disease to get an accurate diagnosis? That’s more than 30 million patients navigating long, costly, and uncertain diagnostic odysseys. Healthcare doesn’t move forward when patients spend years on that diagnostic journey. It moves forward when we translate scientific research and innovation into real-world impact for patients. Behind every appointment and test is a patient and family searching for clarity. We must strengthen the bridge between discovery and patient care to help shorten the amount of time it takes to receive answers. The good news is there’s been significant progress made in recent years, and there are already diagnostic options today that can transform the patient care trajectory. Enter whole genome sequencing (WGS). WHOLE GENOME SEQUENCING At Baylor Genetics, we believe the biggest leap forward for rare disease diagnosis will happen when WGS becomes the standard of care and is used as a first-line tool for all patients. This means getting access to comprehensive testing earlier in the diagnostic journey, which is exactly when it’s most impactful. WGS is already recommended across multiple professional society guidelines for a variety of clinical indications such as intellectual disability, developmental delay, congenital anomalies, and unexplained epilepsy. And even though we’ve seen strong momentum in guidelines, insurance coverage for WGS varies. Today, approximately 58% of U.S. commercial payers and 73% of Medicaid programs provide coverage for WGS in outpatient settings, according to our internal data from March 2026. While there is growing recognition across the healthcare community, there is still work to be done to drive systemic change for a genome-first approach to care, including accelerating access to testing, clinical implementation, increasing insurance coverage, and expanding clinical guidelines. The scienc