MEMPHIS, Tenn. – 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 legislation passed unanimously and was signed May 28, making Tennessee one of 14 states to have laws for Medicaid coverage for rapid whole genome sequencing. In most of those states, rapid whole genome sequencing is an approved benefit only for infants. Tennessee is one of five states that have the benefit from birth to age 21.
Whole genome sequencing organizes the entire DNA sample that makes up an individual human genetic dictionary into a file of letters that then can be examined for mutations that characterize certain diseases. Rapid testing generates results within 14 days from the date of receipt of the sample, with preliminary results as early as seven days.
“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. Testing can also be requested by physicians based on their medical judgment.
“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. Her extensive history working with critically ill children and their families propelled her to advocate for better interventions for children who might otherwise languish in the process of diagnosis.
Ongoing collaboration with Rady Children’s Institute for Genomic Medicine (RCIGM) at Rady Children’s Hospital-San Diego informed and supported her advocacy for the cause. RCIGM, a nonprofit research organization, is a pioneer in rapid whole genome sequencing and has championed expanding its use in pediatric health care.
Armed with statistics from RCIGM and after becoming aware of the recent effort in Michigan to pass similar legislation, “I began researching how I could make that happen in Tennessee,” Dr. Finkel said. Similar efforts by others in Tennessee had stalled, primarily because of the estimated cost associated with rapid whole genomic sequencing.
Earlier this year, Dr. Finkel connected with David Mills, director of Government Relations for the University of Tennessee Health Science Center, and together they investigated the opportunity to renew the effort.
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. “And so, aside from the actual cost saving, there's the saving of worry and lost work time and suffering of both families and the children.”
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.
Invaluable guidance and support came from Mills; Maureen O’Connor, vice president of Institutional Advancement and Trey Eubanks, MD, president of Le Bonheur Children’s Hospital; and Carey Whitworth, vice president of Government Relations and Advocacy for the UT System. The Children's Hospital Alliance of Tennessee, St. Jude Children’s Research Hospital, and Vanderbilt University Medical Center got behind the legislation, she said.
“This is the most impactful bill that I’ve been blessed to sponsor,” Rep. Martin said. “Not many bills are wins for all parties involved, but this one does just that. It will allow families to get answers faster, doctors to know what treatment is needed quicker, the taxpayer funds to be used more wisely, and finally help get these sweet babies on the road to better health more rapidly. It’s simply good health care policy and the right thing to do.”
Dr. Finkel said the next step is getting policy and procedures in place to implement the law. “TennCare has to make policy and we're going to work with them on that,” she said. “And that can take a little while, and it's going to take a while for the hospitals to implement. My physician colleagues and I will be working together with our hospitals to bring this life-saving test to our children and families.”
About UT Health Science Center: The mission of the University of Tennessee Health Science Center is transforming lives through collaborative and inclusive education, research, scholarship, clinical care, and public service. With six colleges – Dentistry, Graduate Health Sciences, Health Professions, Medicine, Nursing, and Pharmacy – at its main campus in Memphis, in addition to educational and clinical campuses at major hospitals in Memphis, Knoxville, Chattanooga, and Nashville, and sites across the state, UT Health Science Center strives to fulfill its vision: Healthy Tennesseans. Thriving Communities. For more information, visit www.uthsc.edu. You can find the University of Tennessee Health Science Center on Facebook, Instagram, LinkedIn, X, and YouTube.
About Le Bonheur Children's: Le Bonheur Children’s, based in Memphis, Tenn., provides expert care for children in more than 45 pediatric subspecialties, encompassing robust community programs, a pediatric research institute and regional outpatient centers in Jackson, Tenn., Tupelo, Miss., and Jonesboro, Ark. Le Bonheur also features a 290-bed hospital in Memphis and a 21-bed satellite hospital within Jackson-Madison County General Hospital in Jackson, Tenn. As the primary pediatric teaching affiliate for the University of Tennessee Health Science Center, Le Bonheur trains more than 350 pediatricians and specialists each year. Nationally recognized, Le Bonheur has been named a U.S. News & World Report Best Children’s Hospital for 13 consecutive years and is a Magnet-designated facility, the ultimate credential for high-quality patient care and nursing excellence. For more information, please call (901) 287-6030 or visit lebonheur.org. Connect with us at facebook.com/lebonheurchildrens, x.com/lebonheurchild on Instagram at lebonheurchildrens.
