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Who Knows What It Means

While there's a lot of enthusiasm for personalized medicine, making sense of what gene variants mean in terms of disease risk is still a work in progress. At the Washington Post, Carolyn Johnson writes that there's currently "a very long list of genes for which the best medical understanding of what they mean for our health is essentially a shrug."

One gene, known by "clumsy acronym" of MTHFR, as Johnson put it, encapsulates this lack of information. It encodes a key enzyme and variants within the gene are common. Preliminary studies had suggested that variants in MTHFR could be linked to a slew of diseases, but Elizabeth Varga, a genetic counselor at Nationwide Children's Hospital in Ohio, notes that follow-up studies couldn't confirm those initial associations.

"Right now, we're at the stage where we can discover and study variation in genes at a much faster clip than we can understand what they mean," says the National Human Genome Research Institute's Lawrence Brody.

Muin Khoury, the director of the office of public health genomics at the Centers for Disease Control and Prevention, further tells Johnson that such confusing situations could easily crop up over other not-so-well understood genes.

"Let me put it simply," Khoury says. "99 percent or more of the genome falls there."

The Scan

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Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

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