A new law that went into effect in Tennessee July 1 will increase the speed of diagnosis for children showing signs of a rare genetic illness, with the intention to improve the medical outcomes for these patients.

Terri Finkel, MD, PhD, a tenured professor and the interim chair of the Department of Pediatrics at the University of Tennessee Health Science Center and Pediatrician-in-Chief at Le Bonheur Children’s Hospital, was the primary physician advocate before the Tennessee Legislature for the groundbreaking legislation that requires TennCare coverage for rapid whole genome sequencing (rWGS) of children when certain criteria are met.

“This is a life-changing event for Tennessee children and families – a benefit for the youngest citizens of Tennessee that will save many lives,” Dr. Finkel said. “This also affirms the importance of access to rapid whole genome sequencing, which delivers quick results for our sickest children, allowing physicians to begin treatments earlier.”

Rapid whole genome sequencing, she explained, would quickly give physicians the needed information to diagnose babies who are showing signs of possible genetic diseases and reduce the potential pain, suffering, and needless expenses resulting from months and possibly years of testing to get a diagnosis.

“The rapid whole genome sequence allows us to know when there are variants in known genes, whether there are specific proteins that are not working in a child who has a critical illness,” Dr. Finkel said. “Sequencing a child’s genome can translate to earlier and faster diagnosis and treatment.”

Most often, this testing would apply to critically ill children in the neonatal intensive care and pediatric intensive care units. The eligibility criteria for a child’s genomic sequencing covered by this new law includes the presentation of an acute or complex illness of unknown cause, abnormal laboratory results or chemistry profiles suggesting a genetic disease, or birth defects involving at least two organ systems.

“The law is user friendly in the sense that we can use our experience as physicians to assess children who are most likely to benefit from this test, especially if they are not responding to treatment as anticipated,” Dr. Finkel said.

A pediatric rheumatologist, Dr. Finkel is passionate about diagnosing, treating, and easing the suffering of infants and children with rheumatological and other childhood diseases.

State Rep. Brock Martin and state Sen. Richard Briggs were the sponsors of the legislation, House Bill 1826 and Senate Bill 1762.

“They asked me to write a justification based on what we knew from three other big studies, one in California, the one in Michigan, and one in Florida, which had all passed this bill,” she said. “Based on those studies, it showed that not only was this test cost effective, but it saved and generated money.”

In other words, the cost of the test is offset by the fact that you have children in the hospital fewer days and they need less expensive painful prolonged testing,” she said.

Dr. Finkel wrote letters summarizing the cost data, underscoring the message that the legislation would save lives without excessive costs to the state. She was invited to address the House and the Senate in her capacity as a physician who cares for infants and children who could benefit from the testing.

Dr. Finkel said the next step is getting policy and procedures in place to implement the law.