Study highlights the limitations of these genetic tests — as well as the issues they can bring up that parents can’t do much about.
Parents of a newborn have a lot of questions, in the long and short term.
Cloth or disposable diapers? How good are the schools in our area?
While there are some things parents can control, others are entirely out of their hands and many are things their child may have to deal with after they are gone. These include chronic health problems such as heart disease or Alzheimer’s disease.
The answers to those secrets may be buried hidden in their DNA.
While a simple blood test within two days of being born has become the norm in helping provide parents with some clues as to what may lie ahead, advances in modern medicine — namely the understanding of the human genetic code — are able to go deeper, looking into the very strands that make up every cell in our bodies.
Giving new parents a roadmap at what genetically may affect their child’s life is rapidly becoming more accessible, such as commercial genetic testing like 23andMe.
But a newborn’s genetic code contains more information than the average sleep-deprived parent is likely to be able to handle — and it still comes with uncertainties.
When it comes to some health conditions a newborn could face, some are easily preventable and curable, while others are painful to bear, as they can include likely disability or early death.
That’s a lot for any parent to take in, let alone trust to technology built on science that isn’t really been settled yet.
Researchers at the University of North Carolina (UNC) Chapel Hill took a look at those factors — the technology and whether parents should use it — and found it’s not for everyone, although it can be useful for some.
Scientists have yet to map out the full human genome, so any tests done today are incomplete, as they’re missing a fundamental part of indisputable science: a full data set.
Taking what’s available, the UNC researchers grabbed 822 pairs of genes associated with disease, “enriched” for those that might show up during pediatric years and might have ways to act on them.
They found less than half met the criteria set by a government panel looking at diseases that should be screened at birth. Only 3 percent were for diseases that would develop in adults and less than that were for adult diseases that couldn’t be prevented or treated.
The researchers concluded their latest round of research, published in June in the
They hope this information can help parents decide whether they want to know what genetic test results might say.
Dr. Cynthia Powell is a professor of pediatrics and genetics at UNC and directs the medical genetics residency program there and helped facilitate the study.
She told Healthline she would not recommend that parents subject their child to this kind of testing unless there are immediate problems that need a diagnosis, such as a critical illness.
“Genomic sequencing has not yet been shown to be that helpful for otherwise healthy children,” Powell said. “More research is needed.”
As the science and technology progress, Powell says genome sequencing can sometimes detect rare genetic changes that can be associated with rare genetic conditions.
“It can also detect changes that are associated with a person being a carrier for a condition such as cystic fibrosis,” she said.
But that shows up more often in tests, Powell said, because everyone carries genes for conditions such as cystic fibrosis or sickle cell anemia. Those conditions only manifest in a small sector of the general population but can have lifelong impacts as a child develops.
“Some people are interested in knowing this information and others are not interested,” Powell said.
While having that information can help parents plan for either planning treatments or merely watching for symptoms, it can have other effects. These include creating barriers for insurance coverage or simply making parents worry too much.
Powell says any decisions parents make should include a genetic specialist. That includes whether to have the test or not.
In the future, there may be specific conditions that can be detected using genome sequencing to only look at specific genes (versus sequencing and analyzing all the genes) that will be helpful to know about even in healthy babies.
“Time will tell,” Powell said.
She added the testing is currently too expensive to be feasible for everyone.
Genetics remains a rapidly accelerating field, where science and its commercial applications aren’t exactly holding pace with ethics and regulation.
A simple prick or swab of a person’s DNA could end up in a database in an online environment where data breaches are common.
The proliferation of tests such as 23andMe are now helping police solve cold murder cases — including “Golden State Killer” Joseph James DeAngelo — because of shared databases from voluntary uploads from distant family members.
Supporters say those genetic databases are doing a public good by catching serial killers, but that data is far beyond any single person’s control.
That leaves parents with a lot of questions, from understanding what they can know now to what they can’t control later on.
While some parents are throwing lavish gender reveal parties, others want the child’s gender to be a surprise at their birth, the way it has been for the majority of the time people have been on Earth.
For now, parenting still isn’t an exact science.