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Analyzing Your Kids' DNA

Time magazine has been "exploring the promise and pitfalls of sequencing children's genomes" in a five-part series on "Kids and DNA" this week.

In the first article, Time reporter Bonnie Rochman asks how much information parents would want to learn from a whole-genome sequencing test of their child or unborn child. An NIH-funded study led by Ian Krantz and Nancy Spinner at the Children's Hospital of Philadelphia is trying to find out just that, but even the husband-and-wife principal investigators "are divided on what they'd want to know about their own children and about each other."

Additionally, a privately funded study at the Inova Translational Medicine Institute plans to enroll 2,500 families, offering to sequence parents and their newborn children and asking them what results they want to obtain.

23andMe co-founder Anne Wojcicki is at the center of the second part — she ran genomic tests on both of her children, one as a baby, the other during pregnancy. "As a parent," she says, "the most responsible thing I can do is get as much information about my children as possible so I can then think through how I can make them as healthy as possible."

But parents might not know how to interpret the results, "and may be unprepared to respond to the news that their children are predisposed to develop serious diseases as adults," Rochman says.

In the third part, Laurie Hunter, a mother of three, recounts her experience with genetic testing to learn about her daughter's genetic disease. Instead, she found out that she and her daughter carry a gene deletion that predisposes them to cancer. "I go back and forth about whether I'm glad CHOP told me about this," she writes.

CHOP does not always telling parents all the results, though. As Rochman reports in the fourth article of the series, the hospital did not tell one family that their baby has a genetic mutation for early-onset dementia. "We came around to the realization that we could not divulge that information," Spinner says. "One of the basic principles of medicine is to do no harm."

But the doctors did tell another set of parents that their two-year-old, who suffers from kidney disease, also has a mutation linked to a rare form of colon cancer. "We feel good about that one," Spinner says. "Proper screening can make a huge difference."

In the meantime, the American College of Medical Genetics and Genomics is assembling a list of conditions that it recommends should be assessed routinely during genome sequencing, and a research project called My46 lets people store their DNA sequencing results online and choose when they want to find out what.

The final part notes that genetic testing is still expensive, and it is rarely covered by US insurers. Dana Nieder, whose daughter is experiencing unexplained global developmental delays, turned to the Rare Genomics Institute to raise funds from family, friends, and strangers to sequence her daughter's exome. From that, they found that the little girl had a unique mutation. Rochman adds that "finding an answer has been oddly bittersweet" as doctors now "know which gene is misfiring, but they have yet to find an effective treatment for it."

The Scan

Genetic Testing Approach Explores Origins of Blastocyst Aneuploidy

Investigators in AJHG distinguish between aneuploidy events related to meiotic missegregation in haploid cells and those involving post-zygotic mitotic errors and mosaicism.

Study Looks at Parent Uncertainties After Children's Severe Combined Immunodeficiency Diagnoses

A qualitative study in EJHG looks at personal, practical, scientific, and existential uncertainties in parents as their children go through SCID diagnoses, treatment, and post-treatment stages.

Antimicrobial Resistance Study Highlights Key Protein Domains

By screening diverse versions of an outer membrane porin protein in Vibrio cholerae, researchers in PLOS Genetics flagged protein domain regions influencing antimicrobial resistance.

Latent HIV Found in White Blood Cells of Individuals on Long-Term Treatments

Researchers in Nature Microbiology find HIV genetic material in monocyte white blood cells and in macrophages that differentiated from them in individuals on HIV-suppressive treatment.