By Chuck Hehmeyer
Chuck Hehmeyer is an attorney from Philadelphia who is very concerned about the number of children who die or are damaged because they were not picked up by newborn screening. He presented "Newborn Screening's Potential Litigation" at Symposium 2000. Rather than printing a summary of that talk, here is an article he wrote for this issue of the Newsletter.
Newborn screening (NBS) in the United States has been a great success on one hand, yet a great public health failure on the other. It's wonderful to see most kids with PKU and congenital hypothyroidism (CH) growing up healthy today. But it's sad that children with so many other disorders that benefit from early intervention (like MSUD, MCAD, GA1, Galactosemia, etc.) often are not screened.
Quiz question: How many states in the U.S. currently screen for MSUD?
|I represent a beautiful little girl in Texas with classic MSUD who sat in a coma in the ICU of a major hospital from day seven of life until day 21 while lab studies were "pending." It is a miracle she is even alive. Of course she is now profoundly delayed. Her doctors were confused by her presentation (mistaking it for sepsis). NBS should and could have prevented the heartache of this little girl, her family and her doctors. But Texas doesn't screen for MSUD. Why?|
Most of us know that Robert Guthrie pioneered NBS in the U.S. Frustrated by early opposition to PKU screening from the American Academy of Pediatrics (AAP), Dr. Guthrie and PKU parents went straight to the state legislatures. (It's true, the AAP opposed PKU screening in the 1960s.) Their compelling presentations resulted in legislated PKU screening in all 50 states, saving scores of children over the next 35 years from a lifetime of disability. Unfortunately, this prompted legislatures to delegate NBS oversight to state departments of health, resulting in state employees deciding the future progress and development of NBS. Since then, doctors have almost completely abdicated their responsibility for thinking about metabolic screening to public health officials.
This situation is unique to NBS and really a historical quirk due to Dr. Guthrie's decision to go directly to the state legislatures. Doctors, rather than government, continue primary oversight of other medical screens like pap smears, mammography, prostate exams, glaucoma testing, hearing exams for newborns and children, etc.
While we now have uniform screening in the U.S. for PKU, CH and sickle cell disorders, NBS varies dramatically from state to state for the 30 or so other metabolic disorders that (1) benefit from early intervention and (2) are difficult or impossible to diagnose before a child is harmed. Let's call it what it is: newborn roulette.
|Today we know that tandem mass spectrometry reliably and inexpensively identifies more than 20 disorders (including MSUD) using the same blood spots Dr. Guthrie pioneered - which are obtained from every U.S. newborn. But few states use this technology. State departments of health have proven to be poor managers of NBS systems for familiar reasons. State health officials resist innovation and protect state screening jobs - at any cost - from competition from private labs that do the screening more accurately and less expensively. Even when states themselves invest in tandem mass spectrometers, they engage in what amounts to on-the-job training for the first few years (suffering unnecessary false negatives) rather than just awarding state screening contracts to experienced private labs like NeoGen in Pittsburgh. |
Left foreground: Melissa and Jessica Berman with John Devantier (All three with MSUD). Right foreground: Samson Li and daughters (Edlecta in seat has MSUD).
Back left: Kathryn Burkholder (cured of MSUD with liver transplant) and center, Austin Sprock (MSUD) held by grandmother. Photo taken at Symposium 2000.
So what can we do? Obviously, parents and support groups make great advocates. I encourage all parents to lobby state legislatures, departments of health, and even the media, to demand that screening be expanded to all disorders that benefit from early intervention. Additionally, parents of children harmed by delayed diagnosis of a controllable metabolic disorder should know that it may be possible to redress this wrong in the legal system.
The first question parents usually ask is whether we can sue the state for not screening or force the state to begin comprehensive screening. The answer is almost universally no. State entities are immune from suit, particularly for what the courts view as discretionary legislative and/or executive action. We live in a democracy, and lobbying and voting are the appropriate remedies for perceived mistakes in policy making by government officials. [State laboratories can be sued in some states for mistakes in the screening and reporting process itself (e.g., Ohio: yes, California: no), but the courts will never permit lawsuits to answer what they view to be executive/legislative policy questions like what metabolic disorders to screen for.]1
Although we cannot sue states themselves for failing to offer comprehensive NBS, in some states we can sue HMOs and hospitals for failing to screen. I have filed three such suits - two in Pennsylvania and one in Texas. There is an interesting split in the U.S. Some states permit suits alleging that the whole medical profession lags behind in adopting new technology. Some don't. States like Pennsylvania, Washington and Texas permit suits against medical professionals for not adopting clearly appropriate technology - even if none of the other healthcare providers in the state offer the technology. The argument is: hospitals and HMOs cannot insulate themselves from liability for failing to keep up with important developments simply by uniformly failing to use them. Other states (e.g., Ohio) allow medical professionals to set their own standard of care exclusively, no matter how unreasonable. These states say, essentially, if all the hospitals do it, it's okay legally - no matter what. (By the way, no other group gets this special treatment - except doctors.)
We've made the most headway on newborn screening by suing doctors (pediatricians, neonatologists, ER and NICU doctors, etc.) for delay in diagnosis of a sick child with a metabolic disorder. When doctors realize that they wouldn't be in this position if the child had been screened, they put the heat on. In Pennsylvania, we now have over 95% voluntary participation in supplemental newborn screening using tandem mass spectrometry.
Answer to the quiz question: As of July 2000, only 20 states in the U.S. screen for MSUD - less than half.2 If the little girl in Texas with MSUD had been born in Georgia or Alaska, she would go to normal school today. But she wasn't, and she's not. Ivory tower public health officials have no problem justifying this. But they could never explain how this makes sense to the family of that little girl. I doubt they could explain it to twelve ordinary people on a jury.
- This is another strong argument in favor of opting for screening by private laboratories rather than state labs. State labs that are immune from suit do not have the strong economic incentive that private labs have to get it right.
- Pediatrics, August 2000, Volume 106, No. 2 (supp.) p. 393.