Heel-Prick Test Conducted By Labs Ideal for Genetic Disorders

A virus that causes about 20% of hearing losses in newborns has received considerable attention of late in mainstream media. A recent study published in the Journal of the American Medical Association (JAMA), finds that this virus—the cytomegalovirus or “CMV”—can be best detected using existing analytical methods, rather than the one evaluated in the study. [insert reference as footnote], For the immediate future, medical practitioners, laboratory scientists and the families they serve will need to rely on other proven technologies, such as testing a baby’s saliva.

Newborn screening is a complex process that can be confusing even to medical experts. Recently a CBS News segment on the JAMA study reported erroneously that newborn hearing tests are conducted at state public health laboratories. This is incorrect. A baby’s hearing is tested at the hospital within 24-48 hours of birth; that test is not performed by state newborn screening laboratories.

State laboratories do, however, shoulder most of the responsibility for newborn screening in the US. They conduct 97% of the testing for the core panel of 29 congenital disorders recommended by the American College of Medical Genetics (ACMG) and the U.S. Secretary of Health and Human Services Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and children (ACHDGDNC). Newborn screening by state laboratories protects over 4,000 children a year from the potentially devastating effects of Phenylketonuria (PKU), Medium Chain Acyl-CoA Dehydrogenase deficiency (MCAD), Maple Syrup Urine Disease (MSUD) and other serious disorders that can lead to death or life-long disability. In addition to the 29 ACMG “Core” conditions, the public health laboratory in some states also screens for some of the 25 “Secondary” conditions.

A new testing method would simplify and expedite testing for CMV if the method could be adapted to use the same instrument platforms as used to detect other newborn screening conditions.

Newborn screening starts with a single heel-prick collected at the birthing facility soon after a baby is born. Blood droplets are collected on a filter paper kit, allowed to dry and then sent to the state public health laboratory for testing using specific analytical tools to detect congenital disorders. Methods used by the newborn screening laboratory include fluorometric and colorimetric immunoassays, electrophoresis, high performance liquid chromotography and tandem mass spectrometry (MS/MS).

The introduction of MS/MS revolutionized newborn screening – allowing labs to test for dozens of conditions simultaneously. Currently, not all diseases and conditions can be detected via MS/MS (e.g. biotinidase, galactosemia) but the aim is to detect more disorders using this efficient and effective method to provide more rapid detection of congenital conditions to protect the nation’s children.

National Public Health Week -- APHL Honors Public Health Laboratories

By Mary Shaffran, Senior Director, Public Health Programs, APHL

Along with our partners, the public health laboratories are working to keep communities healthy. Laboratorians work behind the scenes. Public health laboratories serve as the nation’s early warning system for diseases and other health hazards. When health risks emerge or re-emerge, public health laboratories analyze the threat, provide the answers needed to mount an effective response and act to protect the public in collaboration with other decision makers. They protect our health by monitoring continuously for diseases and other health hazards.

Just a few of the things that laboratories are doing every day to make sure that you and your neighbors are healthy: 

- Public health laboratories in every state are the backbone of our nation’s infectious disease surveillance networks. They are analyzing infectious diseases such as influenza to determine if they are changing and reporting this information to public health officials so they can determine effective prevention measures. [More on the Infectious Disease Program]

- More than 11,000 babies are screened daily for potentially life-threatening genetic and congenital disorders.

• Matt and Noelle Bamonte discovered that their seemingly healthy baby boy had PKU, a serious disorder that can cause brain damage if not treated from a very early age. Noelle is certain that without laboratory screening, her little boy would have been vastly different. Now, aside from a strict diet, he lives a normal life! [More of their story]

- Public health laboratorians confirm whether people are infected with sexually transmitted diseases, and confidentially report back the results so that people can be treated and others are not exposed. [More on the Sexually Transmitted Disease Program]

- In order to detect foodborne outbreaks and ultimately keep Americans safe from foodborne disease, public health laboratorians test human specimens and food samples for bacteria such as Salmonella and E. Coli.

• In 2006, the New Mexico public health laboratory pinpointed the exact source of the E. Coli that made its way into spinach and made hundreds of people sick. [More on the E.Coli outbreak]

- Public health laboratorians test environmental, clinical and food samples to determine whether they contain hazardous agents in order to protect Americans from terrorist attacks, and they are able to do this 24/7.

• California scientists are collecting specimens from 2,000 people to test for the presence toxins used in used in industry, agriculture and the home. They’ll use this information to explore such things as the connection between exposure and diseases, and to examine changes in exposure over time and the connection to changing health policies and industry regulations working to reduce exposure. [More on the work in California]

- Public health laboratorians test water samples in flood-ravaged areas to ensure that the water is safe to drink.

• In 2008, severe flooding in Mason City, Iowa caused the closure of the water treatment facility. Residents were advised to boil their water until the system was restored and the water was tested to ensure it was safe to drink. The Hygienic Lab rose to the task and tested the water quickly bringing the treatment operation back online. [More on the floods in Iowa]

We would like to thank our unsung heroes in lab coats for protecting the public’s health – every day.

 

Join APHL and our many partners in celebrating National Public Health Week. For more information, visit http://www.nphw.org/.

 

 

 

 

 

 

 

 

 

Newborn Screening: Part 2

By Brad Therrell, Ph.D., Professor Dept. of Pediatrics, UTHSCSA Director, National Newborn Screening and Genetics Resource Center (NNSGRC)

Each year 15,000-16,000 newborns are identified with one of the core 29 conditions tested for using newborn screening. Tests are conducted by analyzing dried blood spots in order to prevent serious medical outcomes from certain congenital conditions.

Many states are considering evidence that points to the value of adding more conditions to the recommended core screening panel. The Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends additional tests; the most recent is Severe Combined Immunodeficiency Disease (SCID), better known as 'Bubble Boy Disease'. Krabbe Disease, now screened for only in New York, is also being considered as a possible addition. Former Buffalo Bills quarterback Jim Kelly (Hunter's Hope Foundation) is actively seeking expanded newborn screening including the addition of Krabbe Disease which took the life of his son Hunter before newborn screening was available.

There have been inaccurate reports regarding the use of a baby’s DNA obtained from newborn screening. As mentioned previously, the newborn screening specimens are stored as dried blood spots, not as DNA. If DNA extraction is necessary and possible, there is usually a dissent process in place and there are educational materials about newborn screening distributed by every newborn screening program. In fact, the Secretary of Health and Human Services' ACHDNC is already hard at work considering national guidance on the issue of storage and use of dried blood spots.

It is important that everyone has the facts about newborn screening available to them. Regardless of the inaccuracies that exist out there, parents deserve to have factual information on the entire process.


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The opinions expressed here represent those of the author and not APHL.

Newborn Screening: Part 1

Newborn screening is the process of testing a newborn baby for genetic and congenital disorders that can cause illness, disability and death. Virtually every state now screens for a core panel of 29 rare genetic and congenital disorders, which include sickle cell anemia, PKU (phenylketonuria) and MCAD (medium chain acyl CoA dehydrogenase deficiency). The test is a small heel-prick to draw blood that is then sent to a laboratory (97% of which are state public health laboratories) for testing. This test allows thousands of babies to be diagnosed with devastating diseases in the earliest stages of their lives, and allows doctors to begin managing these diseases while they still can.

State public health labs are part of a newborn screening system that includes public health staff, birthing center staff, primary care physicians, metabolic specialists, educators and families. Careful coordination among all parties ensures that the infant receives prompt and appropriate treatment, follow-up care and continued evaluation.

There are countless stories from parents who are grateful that their children are alive and healthy thanks to newborn screening.

Parenting Magazine recently published an article telling the story of one family whose baby’s life was saved by early intervention newborn screening.

And in Wisconsin, a family had a scare when a test came back positive for a fatty acid oxidation disorder, a potentially deadly condition.

APHL will be doing a series of posts to LabLog on newborn screening. Please feel free to leave comments and questions.

Despite Outbreak, Work Continues

The recent outbreak of novel Influenza A H1N1 and the subsequent laboratory response have shed light on the work of state and local public health laboratories. But while this rapid response has been grabbing headlines, laboratorians continue work behind the scenes to address a wide range of public health threats.

Through active surveillance, public health laboratories can often detect infections before they become widespread outbreaks. While the media was transfixed by H1N1, the PulseNet system detected a spike in Salmonella serotype Saintpaul infections. Subsequent investigation and testing rapidly identified contaminated alfalfa sprouts as the culprit. Aided by advanced laboratory techniques and improved surveillance, public health laboratories continue to monitor for diseases like E. coli and Salmonella to ensure the safety of our nation’s food.

Public health laboratories are also responsible for screening 97% of newborns in the United States—in the past week alone, government labs have screened close to 80,000 babies for as many as 55 separate conditions. Newborn screening lets clinicians rapidly identify genetic and metabolic disorders, which without prompt treatment may lead to lifelong disability or even death. While many focus on the roll-out of the new influenza assay to states this week, thousands of newborns continue to be tested in the public health laboratory system.

The nation’s public health laboratories provide a diverse range of services to protect the public’s health. Disease diagnosis and surveillance, drug susceptibility testing, newborn screening, chemical exposure and environmental monitoring continue, even while laboratories operate at surge capacity to address the ongoing flu outbreak.