FEATURE
I want to say it changed our life , but it ’ s actually the very first thing that gave Fitz his life . … I ’ m just forever grateful to everyone involved over the decades to have newborn screening .”
Christina Kettler , mother of Fitz Kettler
When Fitz was born in June 2019 via donor egg in vitro fertilization ( IVF ), his newborn screening ( NBS ) results were indicative of an immune deficiency , which would make him highly vulnerable to infection and illness . He was placed in a sterile room at Rady Children ’ s Hospital in San Diego , and whole genome sequencing confirmed he had a form of severe combined immunodeficiency ( SCID ), a rare disease more commonly known as “ bubble boy disease .” Specifically , Fitz had Artemis SCID , a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene . The Kettlers were told their baby likely wouldn ’ t live to see his first birthday .
Then Fitz was able to get into a gene therapy trial at University of California , San Francisco , that was accepting kids with Artemis SCID . His stem cells were harvested , and a healthy copy of the DCLRE1C gene was introduced . In the laboratory , his stem cells began making healthy new cells . At two months old , Fitz was given the healthy cells via an infusion into his port in just 15 minutes . It worked . Fitz is now a regular preschooler with a strong immune system . He ’ s been sick a few times , including with asymptomatic COVID-19 , but he recovered like any healthy kid . He ’ s up to date on his vaccines , including live vaccines for chickenpox , COVID-19 , and measles , mumps and rubella .
The Start of NBS
The United States NBS program — which has improved and saved countless lives — celebrates its 60th anniversary in 2023 . All 50 US states , as well as Puerto Rico and Washington , DC , have NBS programs .
“ Newborn screening has impacted hundreds of thousands of families in the developed world ,” said Dianne Webster , PhD , vice president of the International Society for Newborn Screening . “ It ’ s saving money and time and grief and giving people better lives . There ’ s absolutely no question about that .”
In the US , NBS starts in the hospital with a simple heel prick to gather a few drops of blood when a baby is one to two days old . ( A hearing test and heart screening are also conducted .) Public health laboratory professionals are typically the next step in this critical public health program , screening almost 4 million babies in the US each year to uncover rare but serious , treatable disorders .
“ I want to say it changed our life ,” Kettler said , “ but it ’ s actually the very first thing that gave Fitz his life . … I ’ m just forever grateful to everyone involved over the decades to have newborn screening .”
NBS was created in 1963 , after Robert Guthrie , MD , PhD , developed a blood test to screen for phenylketonuria ( PKU ) in New York . His successful pilot studies led other states to begin screening newborns . By the mid-1960s , almost every state was screening for PKU . Screening soon followed for congenital hypothyroidism , other inborn errors of metabolism , and hemoglobinopathies , including sickle cell disease . Now , each US NBS program screens for at least 31 disorders , according to the APHL Newborn Screening Technical assistance and Evaluation Program ( NewSTEPs ). The federal Recommended Uniform Screening Panel ( RUSP ) recommends that all newborns be screened for 37 core disorders and 26 secondary disorders . APHL plays an important role in the nationwide program , hosting both hands-on trainings in the laboratory and didactic webinars and conference sessions . APHL hosts a Newborn Screening Symposium every fall , provides resources online , monitors state and federal legislation , and supports global initiatives to expand NBS .
Over the past 60 years , the technology behind NBS has advanced tremendously . Public health laboratory professionals and NBS experts point to several milestones that launched the program forward . But ,
among all the successes , there have been challenges — many of which remain today .
NBS Leaps Forward
Bradford L . Therrell , MS , PhD , MD ( hon ), remembers screening for only PKU in the mid-1970s and keeping manual records . Therrell is director of the US National Newborn Screening and Global Resource Center and professor ( ret .) at the University of Texas Health Science Center at San Antonio . He credits the invention of the punch index machine for improving NBS efficiency in the 1970s . He vividly remembers inventor Robert Phillips demonstrating his punch index machine at a conference in 1975 . The machine could punch four holes — with the right size and number needed for consistent , quality testing — in the filter paper used in the screening test .
Before that , for each test , laboratory workers had “ to do the same thing over and over and over with a simple hand punch , like what ’ s used to punch holes in notebook paper , so preparing samples for testing was very expensive and time consuming ,” Therrell said . But the punch machine allowed “ you to punch four samples , or multiples of four , for the same amount of energy that you needed to prepare a single sample ,” he explained . “ That was a very important accomplishment in newborn screening , and it really moved things along .”
As for the data itself , microcomputers became available at about the same time . It can be easy today to underestimate the massive advancement and
14 LAB MATTERS Fall 2023
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