For more than 50 years, newborns have had a little drop of blood taken from the heel of their foot just after birth to be tested for a slew of conditions. The newborn screening is a familiar part of the birth process for parents, but scientists are eager to change it up with new genetic testing technology. Whole genome sequencing could become part of newborn screenings — but not everyone thinks it's a good idea.
Over the last century or so, science has learned that even babies born appearing totally healthy and developmentally normal can have congenital conditions that impact their growth, development, and even threaten their lives. That’s why newborn screenings, which test babies for several diseases, vitamin deficiencies, and metabolic disorders, are mandatory in most states.
In recent years, advances in genomic medicine have given us a greater understanding of the role genes play in diseases both common and uncommon. Now, a consortium of scientists from several universities are proposing that whole genome sequencing become a regular part of newborn screenings. The researchers, from half a dozen hospitals and universities, are working with parents who have agreed to allow their newborn’s genome to be fully sequenced at birth. They hope to gather evidence that would help them create guidelines for implementing sequencing into traditional newborn screenings.
According to the CDC, thousands of babies lives are saved, or their quality of life greatly improved, every year because their parents and caregivers are made aware of vital information about their health through newborn screenings. Phenylketonuria, the first to be routinely screened for, is one of the more severe conditions that can go undetected in newborns if they aren't screened. Left untreated, phenylketonuria can cause profound intellectual disability to develop within the first few months of life.
Not all inherited conditions will show up so early in life, though, which is one reason that scientists think whole genome sequencing in newborns could be particularly useful. It’s also one reason that some in and outside of the academic medical community think that information could come with some serious ethical concerns. If parents had a wealth of information about their newborn baby’s genetics, including what diseases or disorders they may be likely to have later in life, how might it influence their parenting decisions? And, as their kids grow up, how will they decide whether to share this information with their kids?
Huntington’s disease for instance — which could be detected through whole genome sequencing at birth — usually doesn’t manifest until early adulthood. While knowing about some diseases decades in advance could be useful to parents and children, knowing about diseases like Huntington’s that are currently untreatable and always fatal could be an enormous emotional burden. Researchers have also pointed out that this burden falls, for the most part, on parents — because newborns can’t make decisions about their care for themselves. The researchers from the newly formed consortium on newborn genome sequencing are making a point to ask parents in their study about these issues, to gauge how they would feel, and what decisions they would make, if they learned that kind of devastating information about their newborn.
By sequencing a baby’s entire genome, newborn screening could become an even more invaluable tool for healthcare professionals and scientists alike: while most screenings test for a few dozen conditions and diseases presently, through sequencing the genome they would open up a whole new library of information on genetic mutations. Through studying them, eventually scientists may get closer to developing better treatment, cures, and even preventative measures. Researchers hope that by looking for genetic variants that could show a baby is at-risk for childhood on-set cancers, for instance, they will be able to get screenings and early intervention that will improve their outcomes in the longterm.
While it’s true that some of the information gleaned from genome sequencing might be devastating for parents, it could also alert them to health challenges that they can take action against right away, which researchers hope will be empowering. While consumer genetic testing has become popular, and affordable, over the last several years with companies like 23andMe, babies are actually the single largest application of genetic testing because of routine newborn screenings.
Whether this trend will continue as technology advances is uncertain — as this research project is still ongoing — but it definitely brings up a lot of interesting questions for parents about what information they would want to have about their child’s health, and will hopefully encourage them to have those conversations long before the conversations are forced upon them.