What You Need to Know Before Giving the Gift of a DNA Testing Kit

SPRINGFIELD — Santa is carrying some new gifts in his bag this year.

Given the amount of television advertising for popular home DNA testing kits — such as 23andMe, Ancestry.com, and FamilyTree.com — that offer inquiring minds information about not only their ancestry, but, in some cases, their health, more people are asking Santa to bring them one this holiday season, or they are planning on giving them as gifts to friends and family.

At the risk of sounding like a Scrooge, Dr. Mary-Alice Abbott, chief of Medical Genetics at Baystate Medical Center, said there are some real risks to consider before using direct-to-consumer DNA testing.

“You and your relatives may not want to be genetically linked to people you don’t know,” she said. “You may not want a private company collecting and keeping your genomic data. Also, you may not want inaccurate, non-actionable, or indeterminate information that may relate to your health. If you’ve considered these points, and you and your family feel that the benefits outweigh the risks, then enjoy the adventure of gaining some insight into your personal genetic code.”

In general, genetic testing is the analysis of DNA from an individual through a blood, saliva, or tissue sample. Genetic testing has the potential to offer valuable insights into one’s heritable information. Some genetic tests look for changes to the genetic material that have occurred due to a disease process like cancer. Biologic relationships, ancestry, medical diagnoses, and predisposition to disease are some examples of information that genetic testing can provide.

Direct-to-consumer testing is a test that consumers can order without a prescription or order from a physician or medical provider that involves analysis of their DNA. Often, the test requires a sample of saliva, which contains cells with DNA. 

Dr. Abbott noted there is a difference between direct-to-consumer genetic testing and those tests ordered by healthcare professionals.

“Genetic testing ordered by healthcare providers knowledgeable about genetics is typically done to confirm a specific diagnosis, or to determine the risk that you or your child will develop a condition that may run in your family. These tests are done in certified laboratories and the validity and significance of the results are carefully interpreted by specialists,” she explained.

Understanding more about oneself and one’s health has great appeal to some.

“There has been a recent explosion in the availability of direct-to-consumer testing because consumers are interested and costs have come down,” Abbott noted. “Although greater than 99{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5} of an individual’s DNA is exactly the same as everyone else in the world, we know that groups of people from different geographic areas have different variations in their DNA. Ancestry tests look for these small differences in an individual’s genetic code and use these bits of data to speculate about the parts of the world that their genetic ancestors may have originated from.”

While much of the focus seems to be on ancestry, some direct-to-consumer genetic tests offer health-related information, or reveal one’s genetic risks.

“Understanding how small variations in our DNA affect our health remains very complicated, however. The currently available direct-to-consumer, health-related genetic test results typically look for genetic markers that may indicate a higher or lower risk for a trait that may be linked to health. Typically, these tests do not provide definitive information about health risks; rather, they give a probability or risk for developing a specific condition,” Abbott explained.

Lifestyle changes, such as eating a healthy diet, stopping smoking, and starting to exercise, are sometimes suggested based on one’s results, she added. “Certainly a healthy lifestyle helps everyone regardless of their genetic background.”

Some genetic testing can look to see if the test taker and his or her partner both carry any genetic traits that could be passed on together to their child, with medical implications.

“Any genetic testing that has direct medical implications for you or your children should be undertaken with the involvement of a medical professional, who has a good knowledge of genetics,” Abbott said. “A medical geneticist or genetic counselor can help you decide whether or not a genetic test is appropriate for you and assist in the interpretation of your results. It is important to take into account your medical and family history. Although medical genetics is the most rapidly changing field in medicine, there remain many more questions than answers about how genetics affects health.”

Dr. Abbott offered a final word of caution.

“People need to be careful to understand what will happen with their genetic data,” she noted. “Some direct-to-consumer testing links their results with the results of others. Consumers should be informed about who will have access to their test results, how those results will be protected, what happens to an individual’s sample after the testing is done, and what implications test results may have for them, family members, as well as even things like access to life or disability insurance.”

For more information on genetic testing at Baystate, call (413) 794-8890 or visit baystatehealth.org/bmc.