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CHOP’s Cheung First in Pediatric Genomics


Slowly but surely, genomics is working its way from the scientific periphery into everyday life. In yet another sign of this, the W.W. Smith Charitable Trust recently donated $1 million for an endowed chair in pediatric genomic research at the Children’s Hospital of Philadelphia.

Vivian Cheung is the first person appointed to the new position. Cheung, who has been at the hospital for four years, has expressed an interest in genomics since she was in medical school at Tufts University. For her, the appeal is in “integrating technology into medicine.”

One of Cheung’s goals for the hospital is to lead the way in genomics-based testing. “We’re hoping that if we can develop the tests we can take away some of the very expensive costs,” she says, noting that if the hospital waited for companies to make tests the prices would no doubt be much higher. As an example, she points to BAC clones — now available to researchers for 60 cents per clone, she contends that if companies had developed them instead they would be far more expensive.

Though this is the first chair of its kind at a pediatrics institution, Cheung isn’t surprised by the focus on children. Because most diseases caused by basic mutations hit very early on, pediatricians are often the ones faced with trying to understand or test for them. These are the doctors and researchers who could most benefit from improved testing. “The old technology limited us to looking at two genes at a time, three proteins at a time,” she says. “For the first time, genomics is offering us a method to look at a very wide-spectrum picture.”

The Scan

For Better Odds

Bloomberg reports that a child has been born following polygenic risk score screening as an embryo.

Booster Decision Expected

The New York Times reports the US Food and Drug Administration is expected to authorize a booster dose of the Pfizer-BioNTech SARS-CoV-2 vaccine this week for individuals over 65 or at high risk.

Snipping HIV Out

The Philadelphia Inquirer reports Temple University researchers are to test a gene-editing approach for treating HIV.

PLOS Papers on Cancer Risk Scores, Typhoid Fever in Colombia, Streptococcus Protection

In PLOS this week: application of cancer polygenic risk scores across ancestries, genetic diversity of typhoid fever-causing Salmonella, and more.