[ Newborn screening is ] still one of the most important things we ’ ve ever done . It ’ s a little-recognized , tremendous public health advance . ... I just hope that by continuing to help people understand it better , they ’ ll realize how much public health has done to improve the lives of children through newborn screening .”
Susan Berry , MD , professor of genetics and metabolism in the Department of Pediatrics at University of Minnesota
proper communication and education about the importance of NBS , the parents said they ’ ve heard of resistance from other parents . Reasons given include thinking the government is going to have their baby ’ s DNA stored in a database , that there are no genetic diseases in their family so it ’ s unnecessary , and for home birth families , that it ’ ll disrupt their bonding and they ’ ll “ do it later .”
“ Many parents are not aware that their newborn is going to get screened shortly after birth ,” Olney said . “ Ideally , parents should be informed about newborn screening while they are pregnant , and getting this message out through the cooperation of prenatal care providers is an ongoing challenge .”
Incorporating Next-generation Sequencing
An area that fits into both the success and challenge columns is next-generation sequencing , which includes whole exome sequencing and whole genome sequencing ( WGS ). Laboratories now have the ability to sequence large amounts of a person ’ s DNA in a much shorter time , although it is not a routine part of NBS . WGS can be a life-saver when used to discover the cause of a child ’ s severe illness . But should it be done routinely on seemingly healthy babies ? And what to do with that information ?
“ You ’ re going to find a lot of stuff you can ’ t do anything about if you do that ,” Berry said . “ Is that right , to be done as part of newborn screening ? That ’ s a big challenge and a big area of controversy .”
A genome sequence is a lot of data and it ’ s “ still pretty mysterious ,” Berry said . “ Even when we get a gene sequence back using just the coding sequence for the proteins , we don ’ t always know if the genetic error that we see is something that causes a problem , that is it ’ s pathogenic , or if it ’ s just something that ’ s a variation from person to person that is benign .”
Webster quoted her colleague , who said : “ We need to define what we mean by early detection .” As Webster explains , “ There are patients who presented in adulthood who think it would be good if they ’ d have known about their disease earlier . But if you were to ask a number of families if they want to know if their newborn baby was going to develop lateonset Pompe disease when they were in their 30s or 40s , the family may not want to know .” Furthermore , one must consider the autonomy of the child — should they be told about a disease early in their childhood that may develop when they are an adult ?
Like her older brother , Zoe Kettler , now 16 months old , was born via donor egg
IVF . She was the Kettler ’ s “ Hail Mary baby ” as their last remaining embryo to transfer . The couple knew Zoe would be an Artemis SCID carrier but not have the disease . Nevertheless , the Kettlers nervously awaited the NBS results after Zoe was born . “ It was a much different experience waiting for that newborn screening test than the first time when I didn ’ t think there was anything to be concerned about ,” Christina Kettler said .
She choked up as she reflected back on that day : “ I remember when the doctor came in and told me that it was fine , it was negative . I was crying and I felt so relieved .”
Despite the challenges , complexities and ongoing questions , newborn screening is one of the leading public health success stories .
“ It ’ s still one of the most important things we ’ ve ever done . It ’ s a little-recognized , tremendous public health advance ,” Berry said . “ I just hope that by continuing to help people understand it better , they ’ ll realize how much public health has done to improve the lives of children through newborn screening .” g
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