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genetic testing

With advances in our understanding of DNA and RNA, many new genetic tests have been developed to help us to understand and treat diseases. Healthcare providers determine the type of testing needed, and collect and send the DNA sample to the lab. Once the results are available, the healthcare provider will interpret and share the results with the patient. Armed with this information the health care provider may assist the patient in taking action to reduce risk of disease, diagnose a disease earlier and/or implement an appropriate surveillance plan if needed.  Generally, health insurance companies will be involved in paying part or all of the testing. 

Direct to consumer genetic testing is marketed to individuals who purchase the consumer home testing kits online or in stores. Examples of these types of consumer products are 23 and Me and Ancestry. The consumer sends the DNA sample (saliva in a collection tube) through the mail, to the company and once processed, the genetic results are accessed through the company’s website. Some of the consumer genetic testing products on the market today can provide information on your ancestry, traits, wellness and conditions.

Although consumer home testing kits may provide valuable information, the results from consumer testing should not be relied upon to manage illness or make medical decisions. This type of consumer testing has been found to have a 40% false positive rate and there is little regulation and oversight over the labs performing the testing.  The consumer home testing market is big business and can provide some interesting, fun and helpful information, but if there are any concerns that have been identified in your consumer testing, they should be discussed with your health care provider and repeated with another lab if health care decisions will be made based on the results.                                                                 

Kathy Jarman Foxwell, BSN, RN, CN-BN
Cancer Navigator
Richard A. Cancer Institute
Peninsula Regional Medical Center