Checklists 2013: newborn screening and MALDI-TOF

Ann Griswold, PhD

August 2013—At CAP ’11, then president-elect Stanley Robboy, MD, sat at a table in a conference room. He didn’t know those seated with him but he and they started to chat. The conversation turned to Dr. Robboy’s goals for his upcoming presidential term, and a member from Saudi Arabia, Amal Saadallah, MD, PhD, proposed that newborn screening requirements be created for accreditation.

Dr. Saadallah knew well the limitations of the CAP’s clinical biochemical genetics checklist. She is professor of clinical pathology and section head of the quality improvement and safety task force at the National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre. The checklist was a big advance but inadequate given the needs of her country. “She wanted to see something more,” Dr. Robboy recalls. “What she said made sense. Medicine is global. It’s no longer about U.S. medicine or Saudi Arabian medicine or Chinese medicine.”

By the time CAP ’11 ended, he had wide support for a newborn screening project. Now, less than two years later, those much-needed requirements are part of the latest edition of the Laboratory Accreditation Program checklists, released July 29. So too are requirements for the use of MALDI-TOF mass spectrometry in microbiology laboratories.

“MALDI-TOF mass spec is new technology, so we tried to come up with reasonable advice for individuals who might be utilizing it as an identification system or who are planning to use it as an identification system in their laboratories,” says Julie Ribes, MD, PhD, a member of the CAP Microbiology Resource Committee and an associate professor, director of clinical microbiology, and associate director of hospital laboratories, University of Kentucky College of Medicine.

The newborn screening requirements that constitute a new section of the clinical biochemical genetics checklist are aimed at collection, specimen quality monitoring, consent, out-of-range results, reporting, and followup.

“Our working group tried to encompass the holistic view that newborn screening is a process—a public health process to lessen the morbidity and mortality of infants,” says Devin Oglesbee, PhD, a member of the CAP Newborn Screening Working Group and an assistant professor of laboratory medicine, pathology, and medical genetics and co-director of the biochemical genetics reference laboratory, Mayo Clinic, Rochester, Minn. The reference laboratory performs screening for all infants born in Minnesota.

At Mayo Clinic, all infants receive a heel stick after the first 24 hours of life and their blood is spotted on a newborn screening, or “Guthrie,” card. One sheet from the card is sent by courier to the Minnesota Department of Health Laboratory in St. Paul. The remaining blood sample is subjected to technical analyses, including tandem mass spectrometry. “Our tandem mass spec experience has been quite extensive,” Dr. Oglesbee says. “We basically have the capacity to do high-throughput newborn screening for about 90,000 births a year.”

In developing the new CAP requirements, he says, the Newborn Screening Working Group considered each step in the process: type of screening paper, temperature of specimen storage, protocols and timelines for shipping and processing specimens—everything down to the diameter of blood spots obtained from infant heel sticks. The group’s goal: Reinforce the need for timely results so that infants can be followed appropriately, especially if they are at risk for a condition that could compromise their health.

The group reached above and beyond current state and federal newborn screening recommendations. “One of the things that came out of our discussions was that current requirements were focused only on a subsection of newborn screening,” Dr. Oglesbee explains. “Some of the preanalytical variables are extremely important for a newborn screening program but aren’t necessarily included in current clinical chemistry or biochemistry requirements.”

One such variable, he says, is the quality of filter paper used to collect newborn blood spots. The CAP checklist includes language about the use of ID numbers to track the cards, which are themselves FDA-approved devices, and the importance of adhering to the expiration date. “At this point, every laboratory in the U.S. has a method to track the screening paper. In the U.S., many of our newborn screening cards contain expiration dates and a lot ID, though this may be new to international laboratories. So including these regulations in the checklist was important for our international participants.”

The working group opted to provide laboratories with the authority to dictate the size of blood spots, the type of screening paper, and how specimens should be labeled and shipped. “Some issues that the group explored were whether one would want to designate the ordering physician or another individual to receive positive results from a newborn screening card,” Dr. Oglesbee says. “Many of these things are going to be state-specific. But the CAP requirements provide the impetus for these requirements to exist, and give labs flexibility in setting parameters for newborn screening protocols.”

He expects the CAP screening requirements to remain fluid, noting that newborn screening activities change often. Earlier this year, for example, the federal Health Resources and Services Administration suggested expanding the recommended panel for newborn screening targets to include critical congenital heart disorder, a condition detected by point-of-care pulse oximetry and defined as congenital heart disease requiring invasive intervention or resulting in death in the first 30 days of life. States that decide to screen for this disorder will rely on infrastructure not addressed in the 2013 checklist.

Current and future members of CAP resource committees and working groups will likely be busy keeping up with changes in the field so the checklist doesn’t fall behind. “I won’t be surprised if the technologies available for molecular genetic diagnoses become cheap enough to be used by newborn screening laboratories,” Dr. Oglesbee says.

For use of MALDI-TOF, the CAP Microbiology Resource Committee created six checklist requirements that describe use of the technology, its validation for clinical use, and quality control in the laboratory setting.