Harold C. Simmons Comprehensive Cancer Center

DNA Genetic Testing: Preventing Hereditary Diseases

What You Need to Know About Genetic Testing

There are issues to consider, but the benefits – like disease prevention and early disease detection – could save your life

lab work
Using DNA genetic testing methods to find underlying diseases.

Genetic testing provides a detailed analysis of a person’s DNA. The promise of genetic testing lies in its ability to reveal gene mutations, or changes in your genetic makeup, that may cause disease. Early detection of disease can give you a head start in making necessary lifestyle changes or receiving the right medical recommendations for prevention or treatment sooner. 

“If you have cancer, genetic testing can possibly tell you if there’s an inherited reason behind development of the cancer,” says Sara Pirzadeh-Miller, Certified Genetic Counselor and Assistant Director of Cancer Genetics at UT Southwestern Medical Center. It can also help identify whether you are at risk of other types of cancers. Genetic tests are available for most of the more than 50 different hereditary cancer syndromes, according to the National Cancer Institute

But opting to do genetic testing is an intensely personal decision, and one with far-reaching implications. It’s important to know your family history and understand the benefits, risks, and limitations of testing. Talk to a physician, genetic counselor, or medical geneticist to work through how you might respond to the results and to learn more about your options. 

“Some patients come in and say they wouldn’t do anything differently for themselves or their family members based on actionable genetic test results,” Pirzadeh-Miller says. “If you’re not going to use the information, maybe genetic testing is not right for you right now.” But if there are recommended action steps you could take if you found out you were at increased risk, you might want to know.

Beating Breast Cancer with Genetic Testing

One in eight women in the United States will develop invasive breast cancer. UT Southwestern Medical Center is using genetic testing to decrease that number.

About 5% to 10% of all cancers are a result of a specific inherited mutation, and an estimated 30% of cancers are related to a combination of genetic and environmental factors. Information that patients gain from understanding their hereditary cancer risk might affect treatment decisions and personal risk-reduction options and help determine if other relatives are at an increased risk of developing cancer. 

“Finding out you have inherited risk factors can potentially cause psychological and/or emotional distress,” Pirzadeh-Miller says. “As an example, the thought of passing risk on to your kids can lead to feelings of guilt.” Genetic counselors can help you cope with these emotions and refer you to professionals who can provide ongoing care if necessary.

Understanding your genetic risk factors for cancer can arm you with the information you need to begin a personal prevention plan. The more you know, the more you can help prevent cancer. 

Benefits:

  • Can help you make more informed medical decisions
  • Provides relief from uncertainty
  • Can give you the opportunity to help relatives define their disease risk if a genetic factor is discovered and start family history discussions to ensure accurate family history is collected.

Concerns:

  • Can cause worry and stress 
  • Does not guarantee that you don’t have, or won’t get, the disorder if results are negative
  • Does not establish your exact risk of developing a disorder if results are positive; nor can physicians use positive results to predict the course or severity of the disorder 
  • Provides no useful information if test results are inconclusive
  • Insurance considerations for some who are not covered under the GINA law (Genetic Information Nondiscrimination Act) as well as for life and long-term disability insurance

Have further questions about cancer? Call 214-761-3139 or email canceranswerline@utsouthwestern.edu.