December 20, 2020

For the person who has everything, a DNA testing kit is a popular gift choice for the holiday season. These Direct-to-Consumer (DTC) tests, which people can order on sites such as ancestry.com or 23andme.com, provide the novelty of discovering where your ancestors come from. You can even dig up some long-lost relatives, whether or not they really want to be found.

Some of these DTC tests also can provide information about whether you are a carrier of certain genetic conditions. In other words, are you a carrier for a condition that could be passed down to your children or that could even affect your own health? This crucial information goes beyond the fun aspect of DNA tests into more serious territory. But if this is the type of information you are looking for, you should be aware of the limitations of DTC testing.

DTC tests are not all inclusive. In other words, they do not test for everything and it is possible that someone is a carrier of a condition that’s not included in the DTC test. In addition, the technology used in DTC testing differs from the technology used in clinical genetic testing that a genetic counselor or healthcare provider orders. Therefore, it is possible that the DTC technology misses something or provides an inaccurate result.  .

In fact, DTC testing companies specifically state that their test is not to be used for making medical decisions. Decisions regarding your health should only be made based on a clinical test ordered by a healthcare provider such as a genetic counselor.

Genetic carrier screening is a clinical test that is different from DTC ancestry tests.

• Carrier screening ordered by a healthcare provider provides a comprehensive DNA analysis that looks at many genes that are known to be associated with specific genetic diseases.
• This type of testing cannot be ordered without a healthcare provider.
• Generally, the diseases tested for are recessive conditions, meaning a carrier of the disease does not show any symptoms. If both you and your partner are carriers for the same genetic disorder, there is a 1 in 4 (25%) chance with each pregnancy that the child could be affected with the disease. Therefore, carrier screening usually doesn’t give you information about your own health, but about reproductive risks, or risk that may exist when you decide to have children.

There are specific panels of genes for specific ethnicities. For example, there is a Sephardic Panel and an Ashkenazi panel, which look for genes of different diseases that are common in each community. However most of the time comprehensive pan-ethnic tests are ordered regardless of ancestry. For example, the genetic testing company JScreen offers a carrier test for more than 200 genetic conditions that occur in people of all different ancestries.

Another point to consider with DTC testing is that you do not have the support and guidance of a healthcare provider to help you understand your results. It’s up to you to interpret the findings. That can be daunting — and dangerous — when genetic condition are involved. However, meeting with a genetic counselor prior to proceeding with testing and after you have your results can help make sense of the information and create a plan for you and your family going forward integrating the genetic information. ,

Genetic tests certainly make great gifts. Just be sure you get the right one when it comes to health decisions.

For more information on genetic carrier screening, visit genetestnow.com, where you can get a $36 discount on a genetic test from JScreen if you’re planning on giving the gift of carrier screening this holiday season.

GeneTestNow.com is a nonprofit initiative of the Doris Factor Endowment Fund of the Jewish Community Foundation of Los Angeles.