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Direct-to-consumer genetic tests
March 6, 2017, 4:55 pm

You can now have simple, inexpensive genetic tests done through the mail, thanks in large measure to recent scientific advances and falling costs of genetic sequencing techniques. You can now send saliva samples or swabs taken from inside your cheeks to companies that provide DNA tests and learn more about your health risks, inherited traits and ancestry.

Once the sample is tested, the company provides consumers with a report showing whether they are a carrier for any of over 35 diseases, as well as information about traits and ancestry. Participants might learn, for example, that they carry a genetic variation for cystic fibrosis or hereditary hearing loss.

This prior knowledge could be beneficial, especially in cases where carriers have the chance to pass along these genetic variations to a child, who could develop the condition if both parents carry and pass on the variation. Other tests might find that a consumer carries a genetic variation that increases the risk of breast cancer or Alzheimer's disease.

Some experts warn that this access to personal health data could negatively impact the traditional physician-patient relationship, in particular when it comes to interpreting results of such tests. However, in many ways the traditional physician-patient relationship has evolved over the years, with the internet and smart devices boosting patient-initiated health tests. Digital thermometers, blood pressure cuffs, blood sugar monitors and pregnancy testing kits now give the public direct access to health information.

In theory, understanding genetic risk could help guide life decisions, such as encouraging regular cancer screenings, a healthy diet and exercise to offset some genetic risks for some illnesses. At its best, direct-to-consumer genomics testing could eventually become like other forms of home medical testing — another way for people to take personal control of their health and wellness.

But many caution that in most cases, genomics data cannot serve as a guide to action. They note several areas of concern for consumers as they attempt to deduce their personal information without the help of a physician or genetic councillor, including a limited understanding of genetics, confusion about disease risk and anxiety caused by new information in the absence of guidance from a medical professional.

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