FEATURE
The newborn screening community must be vigilant in continuing to educate providers and new parents about the value of this important public health screening program . This education includes challenging discussions about newborn screening research that incorporates ethical principles while remaining equitable and representative of the entire state ’ s population .”
Richard Olney , MD , MPH , Genetic Disease Screening Program division chief for the California Department of Public Health
larger number depending on how the analysis is run . A third state might count hemoglobinopathies as three tests because the RUSP lists three hemoglobin conditions or the state determines there to be only three clinically significant sickle hemoglobinopathies , Therrell explained .
The lack of standardization among how the states count the tests in their panel affects public perception , he said . States already have discrepancies in the number of actual tests included in their panels , but the counting issue confuses the matter even more . Both the general public and legislators “ perceive that because you ’ ve got a larger number out there , you ’ re doing better than everybody else ,” he said . An APHL task force is studying this issue .
A Look at Outcomes and Privacy
A gap in the NBS system is the lack of data about long-term outcomes , Berry said . In short , does NBS work ? “ We know bits and pieces of it , and we know a lot of anecdotes , but no one has ever gone back for almost any disorder … to study longterm outcomes .”
Her state of Minnesota has been using tandem mass spectrometry since 2001 , which means there are young adults who were diagnosed with a rare genetic disease because of NBS . “ No one ’ s systematically going back to those adults and saying , ‘ how you doing ?’ I think that ’ s a shame . The promise of newborn screening was that we ’ d have improved outcomes and people would live better lives , and we honestly don ’ t know if they do .”
A large ongoing discussion is about privacy . Some states store dried blood spots for years , using them for quality control , research and implementation of new screening tests . However , lawsuits have challenged the storage and use of dried blood spots , primarily because DNA can be extracted from them . In one New Jersey case , law enforcement used an infant ’ s dried blood spots to identify a criminal suspect related to that child . In a Michigan lawsuit , lawyers argued that the existing consent form — which is required from parents before their baby ’ s blood can be used for research — was vague and that parents were not sure what they actually signed .
“ There ’ s a tug of war between advocates who have interest in a specific disorder and advocates who are pushing for genetic privacy and have concerns about security of data and sometimes even how newborn screening is conducted ,” Zarbalian said . “ Some families feel really uncomfortable with the state obtaining a child ’ s blood and storing it and using it for different processes that are necessary to operate a newborn screening program .”
Furthermore , there has been increased public scrutiny of public health programs in recent years . “ Building the public ’ s trust and support for newborn screening is key to the success of the program ,” said Richard Olney , MD , MPH , Genetic Disease Screening Program division chief for the California Department of Public Health . “ The newborn screening community must be vigilant in continuing to educate providers and new parents about the value of this important public health screening program . This education includes challenging discussions about newborn screening research that incorporates ethical principles while remaining equitable and representative of the entire state ’ s population .”
Improving Education
Education of NBS in general is an ongoing issue . Do parents really know what the heel prick is for and what the results mean ?
Although most parents won ’ t think twice about it , for those 12,000 families who get a phone call informing them their baby needs follow-up testing , it can be a confusing process . Parents who took part in the Parent / Patient Panel during APHL ’ s 2021 Newborn Screening Symposium said it didn ’ t help that it was often a stranger calling them , not a physician they had an existing relationship with .
Natalie and Eric Lamb received a phone call in September 2020 informing them their daughter , Etta , tested positive for spinal muscular atrophy . The Lambs are both nurses , but they didn ’ t know the neuromuscular doctor on the phone and didn ’ t understand what she was talking about . “ She basically just started spitting a bunch of genetic information at us , and all we heard was complete gibberish ,” Eric said during the conference session .
Other families shared similar stories : When Diane and John Pytel received a call in 2006 that their newborn , Mia , had PKU , John thought it was the “ state ” calling . He assumed it was a Pennsylvania bureaucratic mistake because it was just some stranger on the phone . The parents on the panel all agreed that better education is needed , perhaps during pre-pregnancy planning — and it shouldn ’ t be just a pamphlet handed to them by a nurse . Because of lack of
16 LAB MATTERS Fall 2023
PublicHealthLabs @ APHL APHL . org