What if every newborn’s genes were sequenced at birth? That’s the question the BabySeq study has been trying to answer for a decade.
His most recent findings suggest that genetic information could be used to save lives. And not just the baby.
Several years ago, research showed that out of 159 apparently healthy children whose genetic information had been sequenced at birth, 17 had “active” mutations that their genes predicted or increased the likelihood of them getting sick, and knowing in advance could change the course of their life.
This follow-up, 3 to 5 years later, shows that the information was helpful, both for the children and for three of their mothers. Most genetic diseases are inherited from both parents or a combination of the two, so the child’s mutation indicated that one parent’s genes carried a similar disease risk.
Exact details haven’t been revealed, but all three mothers took action to prevent a serious condition, such as having a double mastectomy for a genetic finding that indicated a high risk of breast cancer.
Right now, newborns in every state are having a blood test to screen for as many as 60 diseases that strike in early childhood. But there are already more than 700 treatable conditions not included in the screenings, with many more treatments in development, said Dr. Robert Green, a geneticist at Brigham and Women’s Hospital and Harvard Medical School who helped lead the research. Few American adults have had their genes sequenced.
“In the future, imagine identifying a risk for a devastating disease in a healthy newborn,” Green said. “So imagine being able to find the biomarkers for those who will develop the disease and even prevent it. Imagine how thrilling that would be.”
With treatment options expanding, now is the right time to expand genetic testing, said Fyodor Urnov, a gene-editing expert at the University of California, Berkeley.
“For the first time, our ability to diagnose genetic diseases is finally being paired with the ability to do something about it,” he said.
What should genetic testing of newborns look for?
Initially, the BabySeq study team was unsure whether they should include conditions that would only impact the baby later in life, such as the BRCA1 and BRCA2 genes known to dramatically increase the risk of a range of cancers, including breast, prostate ovarian and pancreatic cancers.
The team decided that if they found important mutations they had an ethical responsibility to inform the families. “We were amazed at BabySeq to find that once we opened the door to those adult-onset conditions, we found three children carrying mutations in one of those conditions” that increases cancer risk, Green said.
Three mothers, who had no idea they carried this increased risk, underwent risk-reducing surgery after learning of their child’s status.
Previous research by the team showed that families weren’t fazed by this type of information. “We haven’t severed the parent-child bond,” Green said.
It’s unclear exactly how much genetic sequencing of newborns would cost. Now, the BabySeq team pays well over $1,000 per baby, including sequencing and returning understandable results, but that cost would reduce with widespread use, Green said.
While privacy is a concern, he thinks it’s been overblown. “We overindexed the risk and underestimated the benefits” of genetic sequencing, Green said. “We will strike a better balance as people’s lives start to be saved.”
The BabySeq team is currently recruiting for a larger study including more diverse participants to better understand the impact of this type of genetic sequencing. “We’re going to need several thousand children before we get a good read on what’s representative and what’s not,” Green said.
Parents who don’t want to know the information are welcome to opt out, so “we just aren’t getting a lot of families who are distressed” by the findings, Green said.
Putting genetic testing on newborns to good use
While some people might disagree with the idea of knowing someone’s genetic fate at birth, Green said the information can be extremely helpful and isn’t fundamentally different from the heel sticks now being made on newborns. “It doesn’t seem very far from something that we’ve already decided is a public good,” she said.
Pediatricians and parents will need training to understand the implications of genetic discoveries. Not all mutations are bad, and many only indicate increased risk, not a certain future, Green said.
But understanding genetic risk may enable people to take better care of their health, she said. “I believe our entire medical system could benefit from integrating genomic information at all levels.”
Many genetic disorders strike early in life and often go undiagnosed until symptoms emerge and permanent damage has occurred, Urnov said. Birth sequencing would allow treatments to be started before that injury.
“For many of these diseases, providing early access to therapy is the difference between a lifetime of disability or, frankly, death and health,” he said.
Since these mutations can now be identified and treated or prevented, it’s unethical not to give people that information, Urnov said. “This is a moral error.”
Contact Karen Weintraub at firstname.lastname@example.org.
Coverage of patient health and safety at USA TODAY 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 contributions.
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