Do‐it‐yourself diagnosis

Abstract

Sandra Thomas is a trailblazer in the brave new world of genetic testing. Less than 5% of Americans have undergone a single genetic test, but the 56‐year‐old Florida woman has taken a dozen tests of the sort now available over the internet. Thomas is unmarried and has no children, but wanted to know if she has the mutation for haemochromatosis, the disease that killed her mother. Tests for two genes uncovered that she is a carrier of the potentially deadly but treatable iron‐overload disease. The tests also gave Thomas a passion for genetic testing in general. She found she has genes that put her at an above‐average risk for periodontal disease, which prompted her to improve her oral hygiene. The results of further tests, which she declined to name, have put her mind at ease about developing other serious conditions.(Fig 1) Figure 1. Some might consider Thomas a genetic‐testing hypochondriac, but she maintained, “I'm just ahead of my time.” Annette Taylor, a molecular geneticist and founder of Kimball Genetics (Denver, CO, USA), which runs genetics tests for major reference labs and now offers direct‐to‐consumer (DTC) testing, said, “Sandra is passionate about gathering information.” Testing for genetic disorders is becoming almost as easy as taking a home pregnancy test. People can use their credit card to order a kit on the internet, use a brush to remove a few cheek cells, return the kit and receive a report via e‐mail, often without involving their personal physicians. DTC tests cost from a few hundred to a few thousand US dollars, and are available for more than 800 conditions including breast and ovarian cancer, cystic fibrosis, coeliac disease, blood‐clotting disorders, dyslipidaemia, fragile X syndrome, Tay–Sachs disease and narcolepsy. > Testing for genetic disorders is becoming almost as easy as taking a home pregnancy test …