Volunteer Focus
Judith Marie Tuerck, Assistant Professor, Oregon Health & Science University, Child Development and Rehabilitation Center

Tell me about your professional experience.
In September 1978, I came to the Oregon Health & Science University, Child Development and Rehabilitation Center (CDRC) Metabolic Clinic as a nurse coordinator. At that time, the clinic had a contract with the state laboratory to provide metabolic follow-up for the newborn screening program. Unfortunately, as part of my orientation, I was not actually made aware of the contract to provide metabolic follow-up nor what our responsibilities were. My secretary said, ‘Oh, we just file the referrals into this desk drawer.’ About six months into the position, I realized that this process was clearly incorrect, and I became distraught at the thought that we may have overlooked a sick child. A child was not missed, thank goodness, but it was a scary episode. For 26 years as the nurse coordinator at the clinic, I worked with children who have long-term chronic conditions, which I found to be an incredibly rewarding experience.

How did you specifically become interested in newborn screening?
One reason that I became involved in newborn screening was the shock of realizing I had not done the appropriate follow-up because I was uninformed about the process. But, the most important reason was the observation that the children who came to us from the newborn screening program, the children with phenylketonuria (PKU), for example, did so much better developmentally and life-wise compared to other children with metabolic diseases that we picked up clinically. The benefits of screening for metabolic diseases and providing treatment earlier were obvious. Presymptomatic diagnosis provides an advantage for the children, because the effects to their brains or to their bodies from the first metabolic decompensation is often devastating. So, early diagnosis, prior to this first incident, provides a leg up on the disease and hopefully a chance at a normal life for the child and family.

Tell me about the educational work that you do as a globally recognized proponent of newborn screening uniformity and newborn screening follow-up programs.
What got me particularly interested in newborn screening education was a family that came to the clinic in the early 1980s. A newborn, from a home birth, was screened, but the screening card was not returned for a couple of weeks because the midwife had forgotten to mail it. The baby had PKU, and by the time it was found, she was over one month old. I was appalled by this story, and became interested in what was happening with newborn screening education in my state. I found out that there was no education program in Oregon nor had there been since 1963 when the program had begun. From what I could understand, no one else around the country was providing newborn screening education, either. Around that time, I attended my first newborn screening meeting in Chicago. I was so excited about the prospect of talking to the “experts” about newborn screening, follow-up, and education. I had been reading the literature and developed a comprehensive list of questions that I needed answered. When I arrived at the meeting, there were only about 10 to 12 other people there who were involved in newborn screening follow-up, and as we talked I realized that virtually nobody had even thought of any of the questions, let alone any of the answers. I realized at that point that we were starting from zero as far as follow-up and education activities were concerned. That following year, Neil Buist and I wrote the Newborn Screening Practitioner’s Manual. This manual ended up being the first newborn screening practitioner manual that had ever been written in this country, and it serves as the basis for many of the practitioner manuals that are in existence today. Also, I was able to get a small March of Dimes grant to travel and provide newborn screening education to doctors and nurses around the state. In the early days of screening, the education piece was missing. In fact, practitioners were considered to be “users” of the system, not integral team members. Education was an essential, but delicate, issue in newborn screening. I found that practitioners really wanted to do a good job with the screening; however, they had no idea that they were doing a bad job. Once they got the right information and understood the rationale, they were definitely interested in improving their practices.     

What other experiences can you share about your motivation and involvement in newborn screening education and quality assurance?
When I went back to graduate school in the mid-1980s, I was still interested in the education piece of newborn screening. By this time, the clinic had a contract with the state laboratory to provide education in Oregon, which I continue to provide today. In the beginning, for many practitioners, newborn screening was viewed as a piece of paperwork that needed to be processed before a baby could go home from the hospital. Many practitioners did not understand what was behind the test. Also in the mid-1980s, computers were beginning to poke though the consciousness of the world. Once the state laboratory got a computer, we were able to develop a screening practice profile. This is a quality assurance measure for practitioners. From the slips that are sent to the state laboratory, one can monitor the age of the specimen when it arrives, determine whether data is missing on the demographics, assess the adequacy of the sample, and so on. On a monthly basis, we provide a profile to hospitals that outlines any mistakes they have made in their practice, as well as the “perfect” specimens. When the profiles were first produced, about 50% of the specimens coming into the state laboratory had errors. The latest profile submitted shows the state average as 95.3% correct specimens. I explain to hospitals that it is like the “Herd Immunity Theory” in immunology. The more samples that come in correctly, the less chance you are going to make a mistake on the sample of an affected baby. In the state of Oregon, there has not been a missed case due to practitioner error since the institution of an ongoing education and quality assurance program. Prior to this, there had been three missed cases.

How did you first become involved in CLSI?
I became involved in CLSI (then “NCCLS”) in the 1980s, when the Blood Collection on Filter Paper for Newborn Screening Programs (LA4) was first published. Obviously, that standard is used as “the bible” for many newborn screening programs. I routinely notify hospitals, and other professionals who are collecting samples, that the CLSI blood spot document is available. I became involved in the latest adventure, the development of the project, Newborn Screening Follow-up (I/LA27), about two years ago. Harry Hannon, PhD, who developed and runs the QA program for newborn screening (NBS) laboratories at the Centers for Disease Control and Prevention, recommended me as a participant for the document development subcommittee.  After spending most of my life involved in newborn screening follow-up, it was a fitting opportunity. For the last 20 to 30 years, efforts have been made, at the national and state levels, to put the short-term newborn screening follow-up pieces into place.

As an active participant in the development of CLSI document, I/LA27-A– Newborn Screening Follow-up; Approved Guideline, scheduled for publication in May 2006, whom do you think will benefit from using this document?
I hope that any public health-based newborn screening program will benefit from using the I/LA27-A document. This document is written for global application, and it includes the fundamental follow-up issues for both blood spot and hearing screening. It provides the background and elements required to implement a public health newborn screening follow-up program.

What issues were faced in the development of a consensus guideline for global uniformity in newborn screening follow-up?
I think the decision to include both blood spot and hearing screening follow-up was a fairly major one, and one that I am delighted the committee was able to accomplish. The guideline defines newborn screening follow-up, in terms of both short-term and long-term follow-up. The idea was to get the basic public health principles down on paper. One challenge that the committee faced was to define the scope of newborn screening follow-up. For instance, the committee initially included educational efforts in the guideline; however, later decided that education, while important, is not part of follow-up. Another challenge for the committee was ensuring that this guideline was not just a US document, but a document that can be used by other countries. Therefore, the committee was challenged to keep US terminology and colloquialisms out of the text of the document. While many of the committee members had worked on consensus panels before, this dynamic group of participants had many discussions and conference calls and were very vocal about the proper development of this guideline. I think we have it close to correct, but if not, I am sure our colleagues around the world will let us know.

What is the situation for newborn screening in other states?
I would say that virtually every state in the US has some kind of newborn screening follow-up program. However, the quality and quantity of the follow-up activities may differ depending on the state.

What is your involvement in the International Society for Neonatal Screening (ISNS)?
I have been involved with ISNS since they first started about ten years ago. Four years ago, I was elected as an international representative on the ISNS Council. Recently, I was elected to another four-year term on the council.  

You are scheduled to present at the 6th Meeting of ISNS, 16-19 September 2006 in Awaji, Hyogo, and Tokushima, Japan. How do CLSI guidelines, in particular, Newborn Screening Follow-up (I/LA27), as well as Blood Collection on Filter Paper for Newborn Screening Programs (LA4) and the complementary CLSI videotape, Making a Difference Through Newborn Screening: Blood Collection on Filter Paper (LA4-A3-V), fit into your presentation in Japan?
I will present the document, explain the fundamentals of the CLSI resources, and describe the mission and work of CLSI. Then, I will encourage all attendees to obtain a copy of the CLSI newborn screening documents for their use in follow-up programs.

What has changed with newborn screening over the years?
A lot of things have changed in newborn screening over the years. For example, in the 1980s, no one described newborn screening as a “system.” It was a laboratory activity. People really didn’t begin to talk about newborn screening as a “system” until the late 1980s. I think short-term follow-up has improved dramatically, certainly in the US. The Health Resources and Services Administration (HRSA) Select Panel project, started in 1987, has done a huge amount to improve and standardize newborn screening programs across the country, as has the CDC. At the request of a state screening program, the select panel brings an HRSA representative, a laboratory representative, a follow-up representative, a follow-up doctor (metabolic or endocrine), and a federal government representative for a three day in-depth review of the state’s newborn screening program. Then, they provide a detailed report with the evaluation and results. This program has done screening system reviews in about 25 to 30 different states. It is now well recognized that newborn screening is a “system,” and QA issues have been addressed for practitioners and NBS personnel in many states. It is rewarding to see the quality assurance measures adopted by the newborn screening systems around the world. At a recent meeting, a colleague from South America showed me the newborn screening practice profile that he had developed in his country.

How do the newborn screening testing and follow-up techniques differ in various countries?
There are very good quality programs around the world that have been screening for years and new programs just starting up, such as those in Africa and southeast Asia. I hope the follow-up guideline is going to be helpful for these countries. As programs standardize and share their effective policies and procedures, it strengthens and improves newborn screening efforts around the world, which is a common goal of organizations such as the ISNS and CLSI. 

What do you see as the role CLSI plays in the education and global standardization of newborn screening?
Basically, I’ve been involved in newborn screening follow-up issues my entire career. There has not been a mechanism to develop guidelines in this area. CLSI has provided that opportunity. With an official body like CLSI sanctioning these projects and incorporating the involvement of all the different groups in the consensus process, the result is a practical and credible document. So, I am extremely grateful to CLSI for the opportunity to contribute to the development of the guideline. I hope that CLSI will continue to play an important role in education and global standardization of newborn screening as it evolves in the future.

Do you foresee any prevalent topics or future issues that would require the need for the development of CLSI standards and guidelines in the area of newborn screening? 
I think the emphasis is increasingly going to be in follow-up. Right now, most programs are adding tandem mass spectrometry to their newborn screening batteries. So, in some cases, programs are adding up to two dozen diseases in one fell swoop. It is a fairly major shock to those of us who, in the past, have been used to adding one disease every five years. I see that trend continuing. A few years back, I read an excellent article written by Linda McCabe, PhD et al., who likened newborn screening to a young person entering adolescence. Tandem mass spectrometry is the first “surge” of hormones for the adolescent newborn screening programs. In 10 to 20 years, I easily see having the ability to screen for 100 or more diseases. At some stage, the existing paradigm for follow-up is going to be difficult to maintain; however, the breakpoint is undefined. I think monitoring these and other follow-up issues will be very important. In addition, it will be important to continue to expand, revise, and update the existing CLSI documents as screening systems “grow to adulthood.”

Do you have suggestions for what you would like to see occur with CLSI, either in the area of newborn screening, or the organization in general?
I do not have suggestions for anything CLSI should do differently. My experience working with CLSI has been extremely positive—truly a joy. Everyone has been extremely helpful and professional. I am very pleased that the newborn screening follow-up guideline is written. The blood spot guideline (LA4) and its complementary videotape have been extraordinarily helpful for newborn screening programs. Hopefully, the new follow-up guideline (I/LA27) will be equally well received. I truly hope that CLSI will continue to stay involved with newborn screening projects. For me, to see the quality of newborn screening continue to improve will help to contribute to saving babies, which really is an awesome experience. It makes life worthwhile.  

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