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Should you get a home genetic test?

Published Harvard Medical School

Direct-to-consumer tests may help predict risks to your future health. But are they worth the cost and trouble?

Direct-to-consumer (DTC) genetic test kits are a popular way to identify a person’s ancestral history, but the technology may also reveal whether someone is at risk for specific diseases and conditions, like Alzheimer’s disease, heart disease, and even cancer.

“More and more people want to explore their own medical data, and a DTC genetic test is one way to begin to understand some aspects of your future health,” says Dr. Robert Green, a medical geneticist at the Harvard-affiliated Brigham and Women’s Hospital and director of the Genomes2People Research Program.

“Yet it is important to realize that DTC testing is not the same as genetic testing in a medical context, and is not a comprehensive examination of your DNA.”

Should you get a home genetic test 2DTC basics

A DTC test is a type of genetic screening test. Most provide reliable information, but they are typically not nearly as complete as the genetic testing you receive from your doctor, says Dr. Green.

Many companies now offer testing with different degrees of completeness, in different combinations for different prices, most of which is not covered by health insurance.

Costs can range from a few hundred dollars for some of the tests of health markers to $1,000 or higher for complete sequencing of your entire genome with interpretation of a few hundred genes.

Should you get a home genetic test 3It works like this. The test kit is shipped to you with instructions. You provide cells using either a cheek swab or a saliva collection tube and then mail the sample to a lab.

The test results are usually posted on a secure website, where you view your information.

Some of the DTC test companies operate without physicians; others will accept an order from your own physician, or will contract with a physician to approve the testing.

Others will use an independent physician or genetic counselor from a telemedicine practice of genomics experts like Genome Medical.

Should you get a home genetic test 4Looking for markers

What do DTC tests look for? Think of your DNA as a long string of words, each word composed of different combinations of four letters that represent four nucleotides: A (adenine), T (thymine), G (guanine), and C (cytosine).
The string is three billion letters long, and those letters can be in any order.

The sequence is nearly, but not completely, identical in all of us. Some of the nonidentical areas are markers for disease risk. It now is possible to “read” the sequence of all three billion of those letters, and to spot those markers.

“Some types of testing, called array typing, just look at specific markers within your DNA, while others, called sequencing, look at every letter in a specific set of genes or in all of your genes,” says Dr. Green.

Should you get a home genetic test 5DTC testing can be helpful for people who are interested in possible health risks. For instance, the 23andMe test looks at array results for some markers associated with a higher risk for developing Parkinson’s disease, late-onset Alzheimer’s disease, celiac disease, and hereditary thrombophilia (a blood clot disorder).

One of the Color Genomics tests sequences 30 genes associated with increased risk for developing hereditary cancers, such as certain cancers of the prostate or colon.

However, you have to be careful how you interpret the results.
For instance, a study in the May 2017 BMC Medical Genomics found that people who used DTC tests tended to overestimate the completeness of such testing, and some wrongly interpreted negative results to mean they had no genetic risks.

Should you get a home genetic test 6The final grade

So is getting a DTC genetic test worth the time and money? The jury appears to still be out.

“Genetics as a way to understand disease, create new medications, and predict and prevent heritable conditions is turning out to be a hugely worthwhile endeavor that is transforming the practice of medicine,” says Dr. Green.

Should you get a home genetic test 7“But since DTC testing encompasses so many different products with different degrees of completeness, it is often confusing to consumers, and it is difficult to generate clear evidence of benefit, so many experts remain skeptical about its ultimate medical value.”

Still, Dr. Green sees unambiguous value in the results for people who want more information about themselves. “DTC testing is another way that individuals can engage with their own health and get additional information they didn’t previously have.”

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