Will a Direct-to-Consumer Health Test Help You Reach a Diagnosis? Experts Say It May Not Be So Simple
02/26/2026
About 25 to 30 million people in the United States have a rare disease — and most of these conditions have a genetic origin, according to the National Human Genome Research Institute.
Advancements in genetics testing in the clinic may allow for faster diagnosis and treatments, say genetics experts at Johns Hopkins Medicine. Individuals may also turn to gene health test kits that can be bought online if they are looking to bypass insurance and the clinic.
But are these direct-to-consumer tests, with flashy branding and claims of evaluating “wellness,” worth it? And can they determine if someone has a rare disease?
Ahead of Rare Disease Day on Feb. 28, Amy Patterson, M.S., C.G.C., and Kelsey Guthrie, M.G.C., C.G.C., genetic counselors in the Department of Genetic Medicine at the Johns Hopkins University School of Medicine, are available to break down the myths and facts of gene test kits available on the market.
Members of the media who would like to hear more should contact Alexandria Carolan ([email protected]) or Vanessa Wasta ([email protected]).
Topics for stories include:
Watch: Patterson and Guthrie explain the promise and pitfalls of over-the-counter DNA test kits
- How accurate are the gene test kits I can purchase online?
- How do these tests compare to those used in the clinic?
- How expensive are they? Are they cheaper than clinical gene test kits?
- Does the science back up claims made by gene test kit companies?
- When should someone get a genetic test? Is an online test kit a good place to start?