What are the limits of genetic testing at home?

You may want to learn more about your family’s origins. You may also be interested in Inherited Family Traits. Or maybe you want to know your risk of developing certain diseases. If these or other curiosities make you look forward to getting your genetic tree tested quickly and easily, a new federally approved option may have caught your eye.

New direct-to-consumer (DTC) genetic tests, such as the one approved by the US Federal Drug Administration (FDA) in April, are viewed by some as tools that allow ordinary Americans to learn more than just their family lineage, but also your risk of developing diseases ranging from Alzheimer’s. Late to Parkinson’s disease, all from the comfort of home. The news may seem like a welcome development to many, but experts warn that these home tests should be viewed with caution.

Make informed decisions

For several years prior to the April announcement by the Food and Drug Administration, genetic testing for genetic risk could only be performed in a clinical setting by medical professionals who screen patients for genetic diseases and genetic mutations, such as the BRCA genes, that increase the risk of breast and ovarian cancer. Oftentimes, patients had to consult a genetic counselor before taking the test. The results were then shared with the clinician who helped guide medical decisions derived from the findings.

Now, new DTC genetic tests put the results directly in the hands of the consumer, as well as information gleaned from insulin, home pregnancy tests or HIV tests. Instead of getting news from a trained medical professional, these home testing companies share results with the consumer through their websites, by mail, or by phone, without a doctor’s order or guidance from a physician, physician, or genetic counsellor. This relates to the American College of Medical Genetics and Genomics, which insists that medical professionals trained in genetics should be the ones to interpret and present genetic results, taking into account the patient’s family and medical history for context. more complete.

“When providing genetic testing, genetic counselors enable people to make informed decisions about getting tested and ensure they order appropriate and accurate tests,” says Eric Fowler, a genetic counselor at our hospital near Chicago. “The results of these genetic tests are interpreted in the context of personal and family history, and explained in detail And their effect on medical treatment is carefully considered.”

Although the DTC genetic test can be easy to use, and usually requires the user to simply drool over a small tube, genetics is a more complex field of study than a home test might suggest. Many genetic tests cannot predict with certainty whether a person will develop a particular disease. Instead, they are designed to detect differences in specific genes to gauge a person’s level of risk, information they can use to make a decision, with the guidance of a medical professional, for more regular checkups or even preventative measures. Preventive surgeries. Some experts worry that consumers will use the information they get from home tests to make important health decisions without the benefit of medical advice and without understanding that results can sometimes be inaccurate.

It is not a diagnostic tool

In this context, the Food and Drug Administration’s decision to approve DTC tests came with a caveat: “Results obtained from the tests should not be used for diagnosis or to inform treatment decisions,” the agency said in a statement, adding that false positive and false negative results. Also possible.

“Direct-to-consumer genetic tests vary a lot in terms of their utility and reliability,” Fowler says. “While DTC tests can report chances of developing specific health conditions, or information about the genetic code, the results do not always speak of the overall risk. It is difficult to gauge the quality and accuracy of DTC tests without knowledge of genetics, genetic testing methods, and laboratory certifications.”

In fact, the FDA warns that the results of these tests should not be considered diagnostic and should not inform any type of treatment plan. Consumers are advised to seek genetic counselors if they have questions. “Genetic tests performed through DTC labs that provide information about health risks and chances of having children with genetic diseases may not be as complete as those ordered through a genetic counselor or doctor,” Fowler says. “Results addressing health and risk should be interpreted with caution and questions should be reviewed with a genetic counselor.”

Learn more about genetic testing and cancer.