Oct 20, 2022 - News

Utah's DNA bank is helping solve medical mysteries

Illustration of a flashlight shining a light with a dna strand in it

Illustration: Sarah Grillo/Axios

A massive DNA data bank in Utah has enabled thousands of patients to get advanced warnings of hereditary health risks.

  • The collection has also helped unravel genetic factors in at least two illnesses and could unlock treatments for many others, doctors said.

Driving the news: Doctors announced Wednesday more than 150,000 patients in Utah and Idaho have submitted blood samples for DNA analysis, three years after Intermountain Healthcare launched its HerediGene study.

  • About 8% were flagged for further consultation because testing found genes linked to health risks like cancer, heart problems or strokes.

The intrigue: Researchers expected only 2–3% would have genetic conditions linked to health risks.

  • That means genetic testing could be a much more effective tool to prevent serious illness than doctors previously thought.

Zoom in: Madi Certonio, a 25-year-old patient from St. George, gave a sample during a routine blood draw, which showed she has a rare genetic mutation that puts her at a 65–80% risk of developing breast or cervical cancer.

  • Now she says she'll get yearly screenings that otherwise would have waited until she was older.
  • Certonio's father was adopted, and he learned that his biological mother and sister have had breast cancer.
  • "I could have gotten cancer and had no idea that I had the gene, and now we can catch it early," she said.

Meanwhile: Researchers have uncovered multiple genetic links to vertigo and variants that cause nonalcoholic fatty liver disease from HerediGene's sample pool, oncologist Dr. Lincoln Nadauld said during Wednesday's news conference.

  • The DNA collection could help devise and customize treatments for depression and anxiety, Nadauld said — something that's already happening in cancer treatment.
  • With children added to the study in February, researchers could find ways to identify genetic causes and treatments for health problems in newborns who currently "languish for weeks or months" in NICUs, he said.

What's next: Intermountain wants to get 500,000 patients to provide samples — a process that slowed down during the COVID-19 pandemic.

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