CLSI eNews - 14 September 2005 (Plain Text Version)

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Executive Vice President's Message
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Fine Meets With JCCLS, Government Officials in Tokyo
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Standards in Action

Newborn Screening Follow-up (I/LA27-P)

Harry Hannon, PhD, Chief of the Newborn Screening Branch, Division of Laboratory Sciences, Centers for Disease Control and Prevention (CDC), is a pioneer in the vital public health activity known as “newborn screening,” by which newborns are screened for congenital diseases that must be detected early for the prevention of morbidity and mortality. In the early 1980s, while pursuing work at CDC in newborn screening for congenital hypothyroidism, Hannon found through what was then called NCCLS (now Clinical and Laboratory Standards Institute [CLSI]) the opportunity to generate and disseminate consensus-based standards in his emerging area of expertise. The CLSI/NCCLS standard, LA4, Blood Collection on Filter Paper for Newborn Screening Programs, Hannon says, “standardized and improved newborn screening” around the world.

Currently, over 10 million infants across the globe undergo newborn screening each year, for conditions including hearing impairment, and a number of metabolic disorders that can lead to mental and physical retardation. Newborn screening is not a singular procedure, but a system, altogether composed of screening, follow-up, diagnosis management, evaluation, and education.

This month, CLSI will release what Hannon calls “a companion document” to LA4: Newborn Screening Follow-up; Proposed Guideline (I/LA27-P). Follow-up activities, performed in a timely fashion, constitute an essential component of the newborn screening system, and I/LA27-P describes their basic principles, scope, and range.

Gail Lim, ARNP, Vice President of Newborn Screening at Pediatrix Medical Group, served on the voluntary subcommittee that authored the guideline. She characterizes I/LA27-P as “critical” to the practice of newborn screening.

“Screening alone does not give the parents any reason for intervention. It really takes the follow-up of getting that baby into early diagnosis and intervention. And that’s the key word: early—early diagnosis and early intervention.”

Lim says that standardization is important as a means of coordinating follow-up efforts amidst the many potential obstacles faced by both parent and provider. These can range from conveying information to the primary care provider in a “timely enough fashion in order to render immediate care to the baby, whether the concern is hearing or metabolic, and making and keeping contact with the sometimes transient families of newborn patients.”

“There needs to be a concerted, coordinated effort,” Lim says, in which both the parents and healthcare providers together are involved “from the beginning of the baby being screened through diagnosis, and intervention.”

Another participant on the I/LA27-P subcommittee, Pam King, MPA, RN, Director of Genetics and State Genetics Coordinator for the Oklahoma State Department of Health (OSDH), says that I/LA27-P will help “protect infants” by establishing the need for action beyond the reporting of diagnosis dates.

“You can report a diagnosis date, and that means nothing for the child—what’s important is, did they get treatment? Did they get referral? And did they gain access into a medical home? These things are critical. Standardizing them is going to improve the health of babies.”

“There is a lack of awareness in the field about what the procedures (for follow-up) are, and what should be done,” says Barbara Marriage, RD, PhD, Director, Metabolic Diseases for the Ross Products Division of Abbott Laboratories—which both develops formulas, and, through a 1-800 number, advises healthcare professionals in the field.

“We get calls (from healthcare providers) that are frantic to put (infants) on formula, and all they have done is just the initial newborn screening. I got one today, for example: they’re sure that the child has Citrullinemia. They don’t understand that follow-up still needs to be done—that they’ve just done an initial screening."

For Marriage’s facility, she says, I/LA27-P will enable staff to explain follow-up services that need to be done—“that this is what you go to from there.”

Says King, “I think the most important (aspect) of I/LA27 is the standardization—that follow-up programs should provide this minimum standard of services.”

For already strong follow-up programs like that of OSDH’s Newborn Screening Program, King says the document will be useful in assuring compliance with minimal standards; while, for programs without the capabilities to meet minimum standards, I/LA27-P will provide useful justification in securing the necessary resources from policy makers to staff and develop follow-up programs.

“You’ll be able to evaluate your program with it, make changes, use it to get adequate resources, and use it to administer a follow-up program. Nationally, the document will allow assessment of how many babies are lost to follow-up—something that has always been difficult to achieve: how many babies are actually getting repeat testing when they need it?”

Marriage, also on CLSI’s I/LA27-P subcommittee, says the document will be especially useful for its definition of both result ranges and terminology: “For instance: what are ‘false positives?’ ‘False negatives?’ It really helps you define those things.”

“It’s very basic,” says King, “and it avoids terminology that the national community has had disagreements over before. It provides definitions for three types of screen results [out-of-range, invalid, and valid], to keep everybody on the same page, so we’re all talking about the same thing.”

“There’s always been a little bit of confusion about what follow-up should and should not do,” King adds, “and I think the document clarifies these discrepancies by addressing both short-term and long-term follow-up services."

While the new document is intended primarily for use by public health officials and healthcare providers, I/LA27-P is among the few CLSI documents that are written for comprehensibility by people outside the healthcare field. The abstract of I/LA27-P states that it is “intended for use by those involved in any aspect of follow-up, including… parents, and others concerned with the health and welfare of newborns.”

According to Marriage, “It’s primarily for healthcare professionals. But it isn’t a document that’s written in such technical language that a parent can’t read it and say, ‘Okay, that’s what we’re going to go through.’”

“Many times the parents have no idea what to expect,” says Lim, “This document will give them an idea of what should occur in regard to their follow-up. To have a key like that empowers the parent, because they will become educated on the appropriate follow-up methods for their child. That definitely can provide peace of mind to parents with children affected by genetic disorders or hearing loss.”

King says she sees the pervasive value of I/LA27-P as being rooted in its simplicity and specificity.

“I/LA27-P clearly defines what a follow-up program should do. It doesn’t try to address the entire newborn screening system; it’s truly focused upon the follow-up component. These minimum parameters may have been discussed before in previous guidance documents, but never in this specific way. I think that’s why this document is so helpful, and why it’s going to have such far-reaching effects.”