When Women Should Get Genetic Testing

It’s scary to think you could be at risk for an aggressive cancer or a genetic disease. It’s more frightening to know you might be advised to take preventive action.

These are all thoughts you might have if your doctor suggests you have genetic testing.

It’s worth having that knowledge. Ask questions. Listen closely. Your anxiety may be founded, but genetic testing can help you tremendously. With today’s scientific advances, having facts about a potential medical issue might allow you to screen for, and fix, problems before they become life-threatening.

Why Women Get Genetic Testing

Genetic tests are blood or saliva tests that examine your DNA to see if it is different than the norm. The results might show that you have a mutated gene that puts you at risk for a certain medical challenge. Some mutations run in your family, and they might never affect your life in any way. Others can be life-threatening. Most are in between: They indicate that you might develop a problem over time.

A well-known genetic test is a screening for a BRCA1 or BRCA2 mutation. Both indicate a woman is at high risk for developing an aggressive form of breast cancer and/or ovarian cancer. If you carry that gene, you’ll be advised to supplement mammograms with MRIs for yet more chances to see any small cancers developing.

That’s just a small part of what genetic testing might reveal, however. Over the years, genetic test results have become far more nuanced than in the past, with more genes being tested and improved technology to identify mutations that would previously have been missed. At the same time, the medical world has integrated a whole lot more screening tools, so you can catch, and treat, medical threats early on — if you know they’re there.  

Should You Get Genetic Testing?

If your doctor recommends genetic testing, there’s a reason. It could be that your relative tested positive for a BRCA gene, or because three women on the same side of your family under the age of 50 have had a breast cancer unrelated to BRCA. If even one relative was found to have a more rare cancer such as ovarian or pancreatic, you’ll benefit from knowing if your family has certain genetic markers.

Have you had more than 10 polyps in your colon? If so, you’ll be tested for a colon cancer gene. Similar rules apply if signs indicate you might have Lynch syndrome, a gene mutation that shows you’re at more risk than most people for a variety of cancers including uterus and colon.

If you’re found to have one of these genes, your genetic counselor will help you understand your risks. Your doctor will explain potential preventive medications and surgeries =and teach you how to live life differently to avoid getting cancer. That information is empowering.

Do It Once and Do It Right

You have options when it comes to genetic testing. You can get self-tested using packets sold in stores or via websites specializing in ancestral history. You’ll receive results saying what parts of the world your family is from, and about people who might be your relatives. Those are referred to as direct-to-consumer tests. That’s not the route that will give you need-to-know medical information.

Instead, work with your doctor to find a medical facility that specializes in clinical genetic testing. In that setting, you’ll work with a genetic counselor, a specially trained professional who will offer several benefits the more commercial enterprises don’t.

• The right tests. After learning your medical history, and your family’s, a genetic counselor will know which specific tests will provide the most useful information for you.
• The test results. Imagine receiving results and not knowing quite what they’re saying. That won’t happen if you work with an expert who is educated in both genetics and in sharing genetic findings to consumers. You’ll be told what risk factors you have. Then you’ll learn which doctors are experts in the specialty you need to explore more, perhaps to set up screening tests.
• Assurance. Genetic counselors understand the big picture and the small details. They’ll give you specifics about your gene and what it means in the context of your family, health status and even future children. Knowledge is power, and you’ll leave the process with a fact-based plan for how to proceed.

Types of Genetic Testing

If your family members have had heart issues, kidney problems or developmental issues, you can get screenings specifically in those areas. They come under a wide umbrella of types of tests, for both cancer and myriad other genetic components. Here are three major genetic testing categories:

• Single-gene test. This is a test for a specific genetic mutation. Pregnant women might want screening to see if they carry the genes for sickle cell disease, cystic fibrosis or Tay-Sachs, to learn if their unborn child has a chance to be born with one of these conditions. You might be advised to do a single-gene test to detect muscular dystrophy. A BRCA test would fall into the category. For example, a daughter might ask for that test because of her mother carries a BRCA mutation.
• Genetic testing panel. The panel is tailored to the family history, or to a specific concern. For example, there's a breast cancer panel and a colon cancer panel . Each looks for more than just one gene.
• Large-scale genomic testing. The largest scale test, also called whole exome testing, casts a broad net to find any mutated genes. This tends to be done in pediatric and medical genetics clinics. It often seeks answers about children having symptoms that can’t be identified, or a rare syndrome that could be related to genes.

Next Steps

You’ll be relieved to learn you do not carry some genetic mutations, and upset to learn you do carry others. In certain cases, genetic testing can lead to unpleasant decisions. As an extreme example, even young women sometimes test positive for Cadherin-1, or CDH1, which raises the risk of stomach and diffuse gastric cancers. That can lead to having the stomach removed while everything is still fine. Likewise, women carrying a BRCA mutation might be advised to have both breasts, both ovaries and her fallopian tubes removed.

Most findings lead to no such urgency. Most genetic issues that show up are likely just a part of how your family is built, and you won’t need to do any more than get occasional screening tests. With the right guidance, by a qualified genetic counselor and specialized doctor and nurse practitioner, you’ll end this journey with more information and less anxiety.

Genetic testing is an easy, useful and effective step to be proactive and take control of your cancer risk.