Every day, thousands of day old babies around the world get a quick needle prick to the heel to draw a drop of blood. That blood sample is used to screen for childhood diseases and rare conditions like phenylketonuria, a genetic disorder that prevents the body from normally processing the protein phenylalaine and can cause a life-threatening build up in the blood stream. The blood sample is also checked for a handful of other conditions that are treatable but time sensitive.
But that drop of blood contains a lot more information. In fact, from that sample it’s possible to sequence the newborn’s entire genome and learn his or her risk factors for a slew of diseases, some of which may never develop and some of which will only manifest well into adulthood like Alzheimer’s disease.
Within a decade, it’s likely that genome sequencing will be so cheap and readily available that every baby could be sequenced at birth. But, it’s unclear if they should be.
In a Science Translational Medicine Commentary, McGill University geneticist Bartha Knoppers and her colleagues suggest there could be some psychological harm to a child growing up knowing his status for developing or carrying adult disease. Sequencing would also be the equivalent of giving every child a paternity test, unveiling information some families may not be interested in knowing. Knoppers writes:
“One possible solution is to perform whole genome sequencing (WGS) but to have a list of pediatric conditions to be communicated. Other WGS new born screening results would be retrieved for later disclosure: either when they gain scientific validity and clinical utility and when parents have had time to consider the consequences or when the results can be communicated to the ‘mature’ child directly.”
Another issue is consent. Aside from the District of Columbia where parental consent is required, states perform the newborn screenings under ‘implied parental consent’ meaning it’s mandatory and done without consultation with the parents. Knoppers argues this must change if whole genome sequencing becomes part of the newborn screening package, writing that ‘the autonomy rights of individuals include the right not to know.’
But, sociologist Stefan Timmermans at the University of California-Los Angeles cautions in the Los Angeles Times that even with informed consent in place, and only reporting results with clinical efficacy, the case for whole genome sequencing of newborns has significant implications for parenthood and childhood:
“Giving parents a torrent of information about a child’s genetic disease risk will profoundly change the experience of bringing a new life into the world. If genetic screening is adopted for newborns, only one thing is certain: Every infant will be born a patient.”
- Are we headed for universal genome screening at birth?, Genetic Literacy Project
- Genetic pre-natal test opens window to improved diagnoses, stirs concerns, Genetic Literacy Project