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Subject: Pennsylvania docs: What are you doing about metabolic screening?

Doctors practicing in Pennsylvania are facing an imminent change in the way metabolic screening is handled that is going to be a burden for our patients and hospitals. The situation here is interesting, and the evolution of events instructive…

In the late 80s – early 90s, Pennsylvania was not a leader in metabolic screening. The State mandated and run testing including PKU and thyroid disease, and that was it. Over the past decade, the state has slowly increased the mandated tests to now include PKU, hypothyroidism, hemoglobinopathy, MSUD, and more recently CAH and galactosemia.

In the same time frame, Dr. Edwin Naylor, first working at Magee Women’s Hospital, later at West Penn Hospital, then back at Magee, and more recently with the private company Neogen (which was recently acquired by Pediatrix) developed a comprehensive “Supplemental Newborn Screen” (SNS). In the initial phases, the SNS tested for 18 conditions, but with Dr. Naylor’s cutting edge leadership, his lab developed tandem mass spectroscopy and gene probe techniques that have led to the expansion of the SNS to now cover over 35 disorders. When Dr. Naylor rolled out this test, the charge to hospitals was $15 for each newborn, and that covered whatever retesting was necessary. Over the years, the cost of the test has escalated all the way to $20/newborn.

Hospitals across Pennsylvania (and other areas of the country too) began to utilize the SNS, and by 1995, over half of the hospitals in the state were doing this test routinely on newborns. Currently all hospitals in Pennsylvania (except 2) routinely use the test. I believe that babies born in Pennsylvania are among the most comprehensively screened babies in the world, and the enormous benefit is that diagnoses of galactosemia, CAH (in males), MCAD, organic acidurias, CF, etc. etc. etc. etc. etc. are made in the lab in most cases before a baby is symptomatic.

Until 5 years ago, the “cost” of doing the test was not simply the $15-20/baby, but the additional nursing and administrative burden involved in collecting 2 specimens from each patient. Then, the PA Dept of Health (DOH), with the help of a professional technical advisory committee, awarded the contract for State-mandate screening to (then) Neogen, so that all screening could be done on a single specimen. This was the “golden age” — screening was administratively and clinically simple, effective, and inexpensive.

It appears (to me) that the expansion of Neogen (now Pediatrix) and the universal acceptance of the SNS marginalized the metabolic screening division of the DOH, and they have now struck back with a vengeance. As the Pediatrix contract was expiring, the DOH sent out a request for proposals (which was not subject to input from their previously used professional technical advisory committee). The Pennsylvania law was changed in a way that allowed out-of-state labs to bid, and in addition, forbade any non-contracted lab for charging for tests that were done in the State-selected/mandated lab. In what is said to have been a competitive process (though details are confidential), they awarded the contract for State-mandated screening to a program run by the University of Massachusetts lab. (I must parenthically add that the cost-basis considered by the State would have surely been their cost, not including the cost to the hospitals). Thus, until a few days ago, it appeared that duplicate samples from babies would have to be done — 1 to the State-selected/mandated lab, and 1 to Pediatrix.

Then there seemed to be a reprieve: the governor signed a law which allowed hospitals to choose the lab to which they wanted to send specimens, which could be any approved lab. This seemed to be a great solution.

Most of us would have thought that if Neogen/Pediatrix was approved on December 31, it would be OK on January 1, but not true in the minds of the DOH regulators! Effective January 1, we learned today, Pediatrix would not be approved for screening (the rationale for which is confidential); thus, samples for State-mandated screening can only be sent to the U of Mass lab.

Joann Adair, head of the division of metabolic screening of the DOH, acknowledges that the SNS is a standard of care in Pennsylvania, but she believes, based on her experience as a nurse, that the testing will not require additional heelsticks. I’ve done heelsticks, and I’ve watched nurses do heelsticks for over 25 years, and there’s no way that 2 sets of filter-paper spots are routinely going to be done with 1 stick. I surveyed 10 nurses on this, and my summary of what they told me was that it takes approximately 1.2 sticks for a single set of metabolic tests, and it will take 2.2 sticks for 2 sets of tests. Why our patients should have an extra heelstick and why our hospitals should have double the administrative and nursing costs for this testing is beyond my understanding. Pediatrix plans to continue to run the State-mandated tests when they are running the SNS for the time being.

Parents do have the right to exclude their babies from State-mandated testing for religious reasons, and parents need not specify the religious basis. The provider does have to document that the test was declined for religious reasons if that is what has occurred. Double heelsticks when one would do would be against my religious principles, but that’s just me.

So my question for Pennsylvania providers is: What’s your reaction, and what’s your plan?

Rob Stavis, MD

Chairman, Dept. of Pediatrics

Bryn Mawr/Lankenau/Paoli Memorial Hospitals

Bryn Mawr/Wynnewood/Paoli, PA