Physician Successfully Advocates for ‘Life-Changing’ Law for Critically Ill Infants and Children

Dr. Terri Finkel used her passion to help seriously ill children earlier this this year to advocate before the Tennessee Legislature for a bill to extend TennCare coverage for rapid whole genome sequencing for children showing signs of genetic illnesses. The bill passed and became law July 1.

Years ago, Terri Finkel, MD, PhD, lobbied before a local government board to block development of a Denver wetland area, after she researched and found a particular species of wildlife there was at risk of extinction. While she describes herself as "not particularly political," she also admits, "when I get passionate about something, I research it to death."

The wetland eventually was developed, but the species was protected. That was her only brush with a government body, until earlier this year when she stood before the Tennessee Legislature armed with her customary copious research and a passion to help seriously ill children.

Dr. Finkel advocated before the state House and Senate for legislation to require TennCare coverage for rapid whole genome sequencing of newborns and children exhibiting signs of rare genetic diseases when certain criteria are met. This, she explained to the lawmakers, would give physicians the power to diagnose babies and children with rare childhood illnesses sooner and eliminate the pain, suffering, and expense 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.

"This is a life-changing event in Tennessee," Dr. Finkel says. "This is a benefit that the citizens of Tennessee now have that will save the lives of many children over the years. It 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."

Dr. Finkel is 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. As a pediatric rheumatologist, she is passionate about diagnosing, treating, and easing the suffering of infants and children with rheumatological diseases.

"I decided to specialize in pediatrics because I love the relationship between adults and children," she says. "There's no tighter bond than between parents and their children, and it gets stressed with illness."

The familial bond that drew her to pediatrics, moved her toward rheumatology. Her grandmother suffered the effects of rheumatic fever for most of her life. "She became very infirm later in her life and I wanted to do something about that," Dr. Finkel says. "That's what originally got me interested in rheumatology and how to prevent that from happening, and from there I became passionate about diagnosing and preventing rheumatic disease and other diseases of childhood."

Among rheumatic diseases in children are childhood arthritis, systemic lupus erythematosus, and systemic vasculitis. "Those can be some of the most severe and, particularly in Memphis, particularly with our demographic, those diseases affect a relatively high percentage of patients I see in our rheumatology clinic or in the hospital," she says. Hispanic and Black populations tend to have a much higher occurrence of lupus and more severe cases of the disease, she adds.

Dr. Finkel's clinical experiences positioned her as the ideal advocate for legislation to help the smallest and most vulnerable citizens of Tennessee with one of the newer technological tools of medicine. 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.

"This is a benefit that the citizens of Tennessee now have that will save the lives of many children over the years. It 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."

Dr. Terri Finkel

"The rapid whole genome sequence allows us to know when there are variants in known genes, whether there are specific proteins that aren't working in a child who has a critical illness," she explains. Early and rapid testing 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.

There are criteria that would make a child eligible for the testing, such as presenting with an acute or complex illness of unknown cause, abnormal laboratory tests or chemistry profiles suggesting a genetic disease, or birth defects involving at least two organ systems. However, there is room for physicians to apply their medical judgment. "The law also applies if the child is not responding to treatment as we anticipate, which makes it user friendly in the sense that we can use our judgment as physicians as to which children are most likely to benefit from this test," Dr. Finkel says.

Dr. Finkel joined the University of Tennessee Health Science Center in 2020, after a decade as the chair of Pediatrics and chief scientific officer at Nemours Children's Hospital in Orlando, Florida, and as a tenured professor of pediatrics and biomedical sciences at the University of Central Florida's College of Medicine.

She received her medical degree and her PhD from Stanford University. She then completed pediatric and pediatric rheumatology training at Boston Children's Hospital, National Jewish Health, and Children's Hospital Colorado at the University of Colorado Health Sciences Center. Dr. Finkel led the Division of Pediatric Rheumatology at National Jewish Health until 1999, when she was recruited as division chief of rheumatology at the Children's Hospital of Philadelphia and Joseph Lee Hollander Endowed Chair of Pediatric Rheumatology and tenured professor of pediatrics at the University of Pennsylvania.

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 Rady and after becoming aware of an effort in Michigan to pass similar legislation, "I began researching how I could make that happen in Tennessee," she says. Similar efforts by others in Tennessee had stalled, primarily because of the estimated cost associated with rapid whole genomic sequencing.

Dr. Finkel connected with David Mills, director of Government Relations for UT 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 says. "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, and it's not a cheap test, is offset by the fact that you have children in the hospital fewer days, and they need less expensive painful prolonged testing," she explains. "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.

"This is the most impactful bill that I've been blessed to sponsor."

State Rep. Brock Martin

Invaluable 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 Association of Tennessee, St. Jude Children's Research Hospital, and Vanderbilt got behind the legislation, she says. "This would not have been possible without the support of leadership at the university, the hospitals, and the other health care entities."

"Leadership works," Mills says. "The Tennessee Legislature, especially the bill's sponsors, Sen. Richard Briggs and Rep. Brock Martin, gave extraordinary leadership on rapid whole genome sequencing. Dr. Terri Finkel's expert witness testimony; TennCare's support; Brian Shank's advocacy (director of state government affairs for Alexion Pharmaceuticals); and the strong support of President Randy Boyd, Vice President Whitworth, and Chancellor Peter Buckley, all proved decisive. Their leadership worked together for good."

"This is the most impactful bill that I've been blessed to sponsor," Rep. Martin says. "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."

Though the law went into effect July 1, it will take time to get adopted, Dr. Finkel says. "TennCare has to make policy and we're going to work with them on that. 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."

Still, Dr. Finkel says, "This was one of the most remarkable things I've ever been involved in."

Public link

Please use the above public link if you want to share this noodl on another website.