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What to Know?

To try to tease out the cause of her daughter's breathing problems, Christine Rowan turned to genetic testing, but as she was waiting for the results, she tells NPR, she began to wonder about what else the testing might find. As the price of sequencing drops, NPR notes, all newborns, not just those who are ill, and possibly fetuses may eventually undergo whole-genome sequencing to catch genetic diseases early, raising a number of questions like those Rowan was asking herself.

"Instead of screening for currently something like 30 conditions, it would allow you to screen for hundreds, if not thousands, [of conditions] at birth," says Alan Guttmacher, the director of the National Institute of Child Health and Human Development, tells NPR.

However, NPR notes that many adults choose not to know certain findings from genetic testing of themselves — like if they are at high risk of developing Alzheimer's disease or Huntington's disease —and children may eventually wish they did not know certain information about themselves. As for Rowan and her daughter, she says she decided to only receive information related to her daughter's breathing issues.

"As with any new technology, we should try to use it to benefit people, but when it's not very clear what its exact impact's going to be, we should go slowly. We should study it," Guttmacher adds.

NPR has had other segments on genomics recently, as well.

The Scan

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.

Researchers Retrace Key Mutations in Reassorted H1N1 Swine Flu Virus With Avian-Like Features

Mutations in the acidic polymerase-coding gene boost the pathogenicity and transmissibility of Eurasian avian-like H1N1 swine influenza viruses, a PNAS paper finds.

Genome Sequences Reveal Evolutionary History of South America's Canids

An analysis in PNAS of South American canid species' genomes offers a look at their evolutionary history, as well as their relationships and adaptations.

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.