Lab Matters Spring 2019 - Page 6

FEATURE The Promise and Challenge of Newborn Screening in 2019 by Nancy Maddox, MPH, writer When Stella Turnbull was born in 2007, she showed all the signs of a healthy baby. At one month of age, however, everything changed. “I went to give her a bath,” said her mother, Sarah Turnbull, “and her head, her arm, her legs were all very floppy.” On the advice of Stella’s pediatrician, Sarah and her husband rushed the baby “that very night” to the emergency department at Mayo Clinic in Rochester, Minnesota— a five-hour drive from their home in Iowa. Over the next week, the parents learned that their daughter has spinal muscular atrophy (SMA), a rare genetic disorder that has left Stella, now age 12, dependent on a trach tube for breathing, a gastrointestinal tube for feeding and 24-hour care. When the family finally left Mayo Clinic after Stella’s diagnosis, the parents were told, “Just take her home and love her, because there’s nothing we can do.” Just last year, SMA was added to the federal government’s list of disorders recommended for inclusion in state NBS programs—the Recommended Uniform Screening Panel (RUSP) maintained by the US Department of Health and Human Services. Six states currently conduct routine NBS for SMA. And Stella’s own state, Iowa, will begin a pilot SMA screening program sometime this year. Fast forward to 2019, and the outlook for infants with SMA is dramatically different. The US Food and Drug Administration (FDA) approved the first drug to treat the disorder, Spinraza ® , in 2016. And FDA is expected to approve a potentially curative gene therapy this year. But both interventions work best when delivered soon after birth, while infants are pre-symptomatic and their motor neurons fully functional; although Spinraza ® has given Stella some movement in her legs and neck, and potentially stopped her disease progression, neither Spinraza ® nor gene therapy can replace the motor neurons that have died. “Her independence,” said Sarah, “is limited to finger movements to operate her power chair.” NBS is a public health success story, ongoing for 56 years. Today, the field is full of both promise and challenge. On the one hand, new treatment and laboratory testing options open up the possibility of expanded screening panels. Already, the RUSP has grown from an initial 29 core conditions in 2006 to 35 today, and fragile X syndrome and Duchenne muscular dystrophy are expected to be next up for consideration. Heartbreaking stories like Stella’s epitomize the strongest case for newborn screening (NBS): to detect congenital disorders at birth, so effective treatments can be implemented before dire health consequences set in. 4 LAB MATTERS Spring 2019 On the other hand, however, testing laboratories and follow-up providers are generally under-resourced and straining to keep pace with growing workloads. In the laboratory, there is pressure to simultaneously enhance quality, reduce test turn-around-time and rigorously evaluate new high-throughput screening methods. In providers’ offices, there is the need to care for increasing numbers of patients with conditions whose progression and management may be poorly understood. PublicHealthLabs @APHL