Lab Matters Fall 2023 | Page 17

FEATURE ubiquitousness of computers . Before the late-1970s , laboratories were forced to collect data by hand . Then , thanks to powerful microprocessors that shrunk the size of computers , microcomputers became available . Before that , computers were huge , expensive machines that few could afford .

“ We were able to utilize microcomputerization , and computerization in general , to handle the data in the newborn screening laboratory program and to handle the follow-up information ,” Therrell said . “ So , we went from hand-recording all of this information to computer-recording it , and it changed everything , especially in the larger screening programs .”

The next leap forward came with the invention of tandem mass spectrometry for chemical analysis . “ It was a major shift in the science and technology of newborn screening because it allowed a laboratory to screen for an entire group of disorders from a single specimen punch ,” said Guisou Zarbalian , MS , MPH , manager of Newborn Screening and Genetics at APHL .

Tandem mass spectrometry “ revolutionized ” NBS , said Susan Berry , MD , professor of genetics and metabolism in the Department of Pediatrics at University of Minnesota . “ That was a big , big change , and newborn screening went from many states doing five or six tests to most states , with time , doing … in the 20s to 30s , or sometimes even more testing .”

After tandem mass spectrometry allowed for more efficient screening , there was a call for a uniform screening panel . “ Prior to the initiation of the RUSP , it was a terrible Wild , Wild West ,” Berry said . “ Some states did lots of screening and some did little . The general sense of the Recommended Uniform Screening Panel was that we wanted to try to be as fair as we could for everybody so that all kids could be screened uniformly .”

In 2002 , the federal Health Resources and Services Administration ’ s ( HRSA ) Maternal and Child Health Bureau asked the American College of Medical Genetics ( ACMG ) to develop guidelines for newborn screening . According to NIH , ACMG considered 81 conditions , ultimately placing 29 of them in a core screening panel . This became the RUSP . In 2003 , the Advisory Committee on Heritable Disorders in Newborns and Children was formed to advise the secretary of the US Department of Health and Human Services ( HHS ). In 2005 , that committee recommended a panel of conditions to the HHS secretary as the nation ’ s RUSP . It was adopted in May 2010 with the addition of SCID , according to NIH .

Ongoing NBS Challenges

Diseases and conditions are added to the RUSP based on evidence that supports the potential net benefit of screening , the ability of states to screen for the disorder and the availability of effective treatments , according to HRSA . That third part — the availability of effective treatments — has become one of the challenges of NBS , leading to passionate arguments and both philosophical and real-world debates among parents , disease advocacy groups , researchers and public health professionals .

Berry points to the example of Krabbe disease , a rare genetic condition with no direct treatment and no cure . Babies diagnosed with Krabbe disease progressively get worse and often die before age 2 . However , some states have included Krabbe disease as part of their NBS panel . Usually , the argument for adding it to a panel , Berry said , is that you can do a bone marrow transplant , if you start that transplant very early in life .

“ The problem is it ’ s very difficult to accomplish that ,” she said . “ And there ’ s very poor evidence that it really makes a big difference other than prolonging life . So , it ’ s very , very controversial among the newborn screening community .”

At its February 2023 meeting , the Advisory Committee on Heritable Disorders in Newborns and Children decided not to recommend adding Krabbe disease to the RUSP . It was a tie vote , and the committee requested a scientific review of the evidence and more discussion with the nominating group , Hunter ’ s Hope Foundation , which aims to support research and increase awareness of Krabbe disease and related leukodystrophies .

As a part of these debates , Berry said the community needs to ask , and think back , to the purpose of NBS . Is the purpose to detect all disorders in children ? “ That ’ s very different than the original objective of newborn screening , which was to do early detection so you could change outcomes because of early treatment ,” she said .

Berry said some argue that NBS is the best — and perhaps only time — to find out this genetic information so we should screen for more diseases , which can help the scientific community learn more about these rare diseases . Others worry that that will dilute the original purpose of NBS , which could make parents reluctant to screen their baby .

“ There ’ s a lot of philosophic debate about where NBS should go , and there are reasonable arguments on both sides ,” Berry said .

How different programs count tests also invites reflection and scrutiny . When screening for hemoglobinopathies , for example , one state might count hemoglobinopathies as a single test , while another might count possible detection of each individual hemoglobin variant as a test , which leads to a