Doing genetic testing at home? Know the risks

By Courtney Rice MS, LGC TriHealth

10:49 AM, Mar 23, 2018

11:24 AM, Dec 12, 2018

Direct-to-consumer genetic testing companies sell test kits that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process.

Genetic testing allows a person to look into their genetic makeup and learn things like their ancestry. They may confirm a diagnosis of a medical condition in certain cases, or even predict if a person has a higher than average risk for developing a disease in the future.

The traditional method of genetic testing follows a similar process to other medical laboratory tests; a physician or healthcare provider assesses the appropriateness of a test, the healthcare provider orders the test and explains the purpose and possible results, the result is provided to the healthcare provider who then provides the result to the patient along with a discussion of what the result means for that individual.

DTC genetic tests have gained popularity in recent years as a means to analyze an individual’s ancestral background. There are several companies that now offer ancestry-type genetic testing and results. Recently, the FDA approved one DTC company to provide individuals with limited information about two genes (BRCA1 and BRCA2) which are involved in hereditary breast cancer risk.

There are positive aspects about DTC genetic testing such as promoting awareness of genetic diseases, allowing individuals to take a more proactive role in their health care, and offering a means for people to learn about their ancestral origins. The anticipation of learning about your own DNA can be exciting and even fun.

At-home genetic tests also come with significant risks and limitations. Individuals are vulnerable to being misled by the results of incomplete, unproven or invalid tests. They might make important decisions about treatment or prevention based on inaccurate, incomplete, or misunderstood information and without the guidance of a healthcare provider.

Individuals may also experience an invasion of genetic privacy if testing companies use their genetic information in an unauthorized way. Genetic testing provides only one piece of information about a person’s health while other genetic and environmental factors, lifestyle choices, and family medical history also affect a person’s risk of developing many disorders. These factors are discussed during a consultation with a doctor or genetic counselor, but in many cases are not addressed by at-home genetic tests.

Before doing an at home genetic test, here are some things to consider:

Are you seeking genetic testing to diagnose a condition? If the purpose of genetic testing is to diagnose a specific condition, an individual would be better off to have the test selected and ordered through a physician or a genetic counselor. This is because you want to be sure the test is the most appropriate, accurate and complete option for the intended condition.

Do you have a strong family history of breast, ovarian or colon cancers? If yes, then direct to consumer genetic testing, at this time, will not provide enough information to give a comprehensive understanding of the risk of cancer. There is also a chance that an individual would be falsely reassured by genetic testing since the risk factors for cancer go beyond a genetic test. For example, the recently approved DTC genetic testing for BRCA1 and BRCA2 gene only provides the result for 3 genetic variants out of more than 1,000 different genetic variants. These three variants are also found most often in individuals with Ashkenazi Jewish ancestry and are relatively uncommon in other ethnic backgrounds. Most individuals with a family history will require a more comprehensive genetic test and a discussion with a genetic counselor.

Are you prepared to learn information that is unexpected for yourself and for your close relatives? No matter how prepared you feel that you are, you may learn unexpected or unsettling information from genetic testing. For example, an individual may learn about a disease risk that was not previously known in the family. While results of genetic testing have health insurance protections afforded by GINA, a genetic information non-discrimination law; result of at home genetic tests could impact application for new supplemental insurance policies such as life insurance.

Getting correct genetic information is complicated. To achieve its full value, genetic information must be applied in context of family health history and other environmental factors.

If an individual is considering at-home genetic testing and is unsure if the test is right for them, it is encouraged they check with their physician or arrange a genetic counseling appointment. If you already have results of at-home genetic testing, bring these results to your next healthcare provider appointment for more discussion.

If appropriate, your physician may refer you for a genetic counseling appointment.

The TriHealth Cancer Institute offers a dedicated team of genetic counselors that focus on hereditary cancer and prenatal genetic conditions. TriHealth also has a specialized program for individuals who carry a genetic predisposition for cancer (such as a BRCA1/2 mutation or Lynch Syndrome). This program is called the Hereditary Cancer Multidisciplinary Clinic.

Prenatal Genetic counseling from certified genetic counselors is also available before and during pregnancy from practices such as Tri-State Maternal-Fetal Medicine Associates.

To determine if you are at risk for hereditary cancer, you can use an online screening tool such as this quick quiz from the TriHealth Cancer Institute. Your score could help you decide whether you should consider genetic counseling.

To find a genetic counselor outside of Cincinnati, the National Society of Genetic Counselors offers a searchable online directory.

Doing genetic testing at home? Know the risks

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