In every postpartum hospital unit across the US, one-day-old babies undergo the same ritual: A nurse pricks the newborn’s heel and stamps tiny drops of blood onto a paper filter; which is then sent off for a standard screening panel.
Today, that panel checks for unusual biomarkers that may indicate a rare but treatable disease like sickle cell anemia or cystic fibrosis. But what if that same dried blood spot could tell you about the baby’s risk of developing certain conditions later in life — some with no method of prevention or cure? What if that heel prick could tell you that the baby was almost certainly going to be diagnosed with autism by the time they turned 5? Or that the child would be more likely to develop breast cancer as an adult?
WOULD YOU WANT TO KNOW?
Tens of thousands of parents have sought such insights by enrolling their newborns in research projects that examine the baby’s genome — the full blueprint for her growing body. As the cost of sequencing plummets, the practice of analyzing hundreds of genes in healthy babies is quietly on the rise, ushering in new questions about where to draw the boundaries of knowledge — and who should get to decide.
The possibilities are almost endless, since virtually every disease has some basis in our genes. the full genome has a wealth of data to be mined for lifesaving intel and gut-wrenching secrets. But some experts say revealing risk of an incurable illness will only give parents despairing predictions for their child’s life. Some believe data about diseases that arise in adulthood, like breast or colon cancer, must be excluded, since they violate the future adult’s right not to know. Still others feel genetic forecasting is the future of medicine — if used wisely.
SHOULD WE PRICK, PROBE?
By the 1960s, the WHO had published a list of principles to guide whether a condition was apt for population-based screening, stating there should be a consensus about a positive case and available treatment. But there’s no such oversight system for whole genome sequencing, now available to anyone with curiosity and money. In some hospitals where research is underway, parents are even paid to participate.
Most experts agree that if examining a gene can reliably prevent a devastating outcome, we should do it. An infant born with mutations in both copies of the SMN1 gene, for example, will develop Type 1 spinal muscular atrophy (SMA) — in which nerve cells in the spinal cord waste away, killing the child by age 2. But if the baby is given a therapy starting at 15 days old, she can meet all developmental milestones and stave off symptoms indefinitely.
MAXIMIZE CHILD’S OUTCOME:
Parents might learn about a mutation days after their child’s birth, but it could take months, years, even decades to see what bearing that has on the child’s life, but it could take months, years, even decades to see what bearing that has on the child’s life. But many leading researchers are not intimidated by this uncertainty, or worried about a condition being curable, so long as it can be acted upon in some way.
The rationale is that the data could grant a child access to speech and occupational therapy while the brain is still plastic, enabling earlier treatment for accompanying conditions such as epilepsy, GI issues, and vision and hearing problems.
“Parents understood that it’s there, regardless of whether you read it out. If it’s going to be what it’s going to be, I’d rather feel empowered to potentially maximize my child’s outcome.
