Scott D. McLean, MD

Newborn screening suddenly commandeered my professional life one sunny afternoon in the early 2000s. My boss, Dr. John Roscelli, was working late in the corner office, Pediatrics Clinic, Brooke Army Medical Center. Normally I was not in this neck of the woods, but somehow I was there, probably working on a note, likely a hand-written note (yes, it was done), certainly in cursive.

“Scott, come in and have a seat.” You know, paranoia is always unhelpful and occasionally unavoidable, and in this case it was both. I had previously been tasked with a short (3 week) trip to NTC – the National Training Center, medical support for the 4th Infantry Division who was training in the sand near Ft. Irwin, aka the Mojave Desert. I figured he would invite me to do that again.

No. This time he was wearing another hat as the Consultant in Pediatrics to the US Army Surgeon General, Dr. James Peake. General Peake had just called Dr. Roscelli with a straightforward question: what’s the Army policy on newborn screening?

John didn’t know. At that time, I was not only a clinical geneticist who happened to be walking by his office, but oddly enough the only geneticist in the US Army, so he asked me.

I didn’t know.

What General Peake knew, which inexorably trickled down to me, was that he had received a phone call from a pediatrician in Upstate NY who was angry with the Army because an Army dependent, a 2 year old girl, had just died with Streptococcal sepsis. She had sickle cell disease, well-known to predispose to this dire infection. Hemoglobin analysis on blood collected at birth could have detected the condition, and daily penicillin then could have prevented the later infection. Didn’t the Army do newborn screening for the children under their care?

We looked into this question. Army pediatricians did in fact follow the American Academy of Pediatrics guidelines quite well, though this was more along the lines of standard of care vs adherence to an Army Medical Department protocol. In fact this girl had had newborn screening. But there was a catch.

She was born in England.

Her father had been stationed there when she was born, and apparently her care there was routine and normal. But in England, at that time, newborn screening included PKU and congenital hypothyroidism and likely some other endocrinologic and metabolic conditions. But not sickle cell disease.

She and her family returned to the US, were stationed at Ft. Drum, NY, and the care was per routine in the pediatric clinic there. Until one afternoon she didn’t want to play, felt hot, was very tired, and they went in to see the doctor.

The details are lost to history, but if we could have looked at the records of all the children seen in that military clinic, they would have been similar to the records in many other locations across the United States – most were born locally, but a good number would have moved from other states or countries. Each state and country would have done newborn screening quite differently. 5 conditions screened in Texas, 3 in North Dakota, 12 in California, 20 in Massachusetts. It was a patchwork quilt.

General Peake did ask us to create a policy for how the US Army should handle newborn screening, and that was the beginning of a long journey of learning and listening and sitting at the policy table. We wrote a policy for the US Army in about 2002, and I don’t know for sure if it was ever amended or retired, most likely because our national policy essentially over ran it (probably a good thing), but the word on the street is that there are still children entering our national health care system, as well as the DoD system, who have not had the type of newborn screens that we assume they have had. Military dependents, immigrants, visitors, intergalactic aliens. Where are their hemoglobin screens, cystic fibrosis screens, X-linked adrenoleukodystrophy screens? And if they are missing, should we care? Should we worry that a girl will feel poorly and get a fever and go to see the doctor with a deadly disease that could have taken a different course if only we had spent 80 dollars on a common antibiotic? Or 200 thousand dollars on enzyme replacement? Or 2.4 million on gene therapy?

The precision of the numbers is not the debate. The economics is part of the debate, but only in the service of the fundamental questions. What is an individual life worth? What is our collective life worth? And what does the first question have to do with the latter?

I wish the answers were clearer.