What if every newborn was genetically sequenced at birth? That’s the question BabySeq research has been trying to answer for a decade.
Its latest results suggest that genetic information could be used to save lives. Not just babies.
some years ago, Studies have shown Of the 159 seemingly healthy babies whose genetic information was sequenced at birth, 17 were found to have “addressable” mutations. Their genes predicted or increased their chances of getting sick. And they knew that knowing in advance could change the course of their lives. .
This follow-up will be 3-5 years later, Indicates that the information was helpful, to both the baby and its three mothers. Since most genetic diseases are inherited from one or a combination of parents, mutations in babies indicated that one parent’s gene carried a similar disease risk.
Although the exact details were never revealed, all three mothers took actions to prevent serious conditions, including double mastectomies due to genetic findings that indicated an increased risk of breast cancer.
Newborns in every state now have a heel stick blood test to screen for as many as 60 childhood-onset conditions. But Dr. Robert Green, a geneticist and lead researcher at Brigham and Women’s Hospital and Harvard Medical School, said there are already more than 700 treatable conditions that aren’t included in screening, and many more. said to be under development. Few American adults have had their genes sequenced.
“Imagine, in the future, identifying the risk of serious illness in healthy newborns,” Green said. “And imagine being able to find biomarkers for people who will develop the disease, and even prevent it. Imagine how thrilling that would be.”
Fedor Urnov, a gene-editing expert at the University of California, Berkeley, said now is the right time to expand genetic testing as treatment options expand.
“For the first time, our ability to diagnose genetic diseases is aligning with our ability to do something about it,” he said.
What should a newborn genetic test look for?
Initially, the BabySeq research team hoped that it would only affect later babies, such as the BRCA1 and BRCA2 genes, which are known to dramatically increase the risk of many cancers, including breast, ovarian prostate, and pancreatic cancer. I wasn’t sure if I should include giving diseases. cancer.
The researchers decided they had an ethical responsibility to inform families if they found important mutations. “With BabySeq, opening the door to adult-onset conditions, we were surprised to find three babies with mutations in one of these conditions that increase cancer risk,” said Green. rice field.
Three mothers, who did not know they had this increased risk, underwent risk-reducing surgery after learning of their baby’s condition.
Previous research by the research team has shown that families are not disturbed by this type of information. “We didn’t break the bond between parent and child,” Green said.
It’s unclear exactly how much genetic sequencing of newborns will cost. Currently, the BabySeq team makes him well over $1,000 per baby, including sequencing and returning understandable results, but that cost will drop if it’s widely used, Green said. .
Privacy is a concern, but he thinks it’s overstated. Green said he has “over-indexed the risks and under-estimated the benefits” of gene sequencing. “As people’s lives begin to be saved, we will reach a better balance.”
The BabySeq team is now recruiting larger studies with more diverse participants to better understand the implications of this kind of gene sequencing. “It would take thousands of babies to fully know what is representative and what is not,” Green said.
“Not too many families are heartbroken” by the findings, Green said, because parents who don’t want the information are free to opt out.
Making effective use of newborn genetic testing
While some may object to the idea of knowing someone’s genetic destiny at birth, the information is highly informative and fundamentally no different than the heelsticks currently practiced on newborns. said Mr Green. “It doesn’t seem too far off from what we’ve already determined to be a public good,” he said.
Pediatricians and parents will need training in understanding the implications of genetic findings. Not all mutations are bad, Green said, and many only represent increased risk, not a sure future.
But understanding genetic risk can help people better manage their health, he said. “I believe that the whole medical system can benefit from the integration of genomic information at all levels.”
Many genetic diseases develop early in life and are often not diagnosed until symptoms appear and cause permanent damage, Wurnov said. Sequencing at birth allows treatment to begin before damage occurs.
“For many of these diseases, early access to treatment can mean the difference between lifelong disability and, frankly, death or health,” he said.
Wurnov said that because these mutations are now identified and treatable and preventable, it would be unethical not to give people that information. “It’s morally wrong.”
Please contact Karen Weintraub ([email protected]).
USA TODAY’s coverage of health and patient safety is made possible in part by a grant from the Masimo Foundation for Ethics, Innovation, and Competition in Healthcare. The Masimo Foundation does not provide editorial opinion.
