Published: 30 April 2019
Last updated: 5 March 2024
AS A GENETIC COUNSELLOR, Beth guides people through pre-pregnancy screening for dozens of diseases, so she knows the hidden dangers that can lurk in your DNA. (She also knows the importance of maintaining privacy around genetic testing, which is why she asked to use a pseudonym.)
Still, when she took her own genetic test before her third pregnancy—the test having recently been updated to include new disease markers—she was stunned by the result: She and her husband each carry a recessive mutation for familial Mediterranean fever, an obscure disease with Jewish genetic roots.
In the United States, people who tell their doctors about sudden bouts of fever, abdominal pain, and inflammation—what feels like periodic episodes of food poisoning—are often misdiagnosed as having kidney stones, appendicitis, lupus, fibromyalgia, irritable bowel syndrome, or even malingering.
In Israel, doctors more often get the diagnosis correct, because it’s more prevalent. Familial Mediterranean fever mutations have been detected in about one in 10 Americans of Jewish ancestry; in Israel the frequency is about one in five.
FULL STORY Fire in the genes (Tablet)
Photo: Library of Congress
