Who Should Consider Genetic Counseling and Genetic Testing

Written By Carlin Kuhlmann
October 8. 2018

Why It Matters To You

In appropriate circumstances, genetic testing can provide important insight about our health and our inherited risk of developing certain diseases like cancer. Information is power and when we are knowledgeable about our own health and disease risk, we are in the ideal position to make decisions that can prevent cancer or help detect it early.

The rise of direct to consumer genetic testing companies like 23andMe has made it easier than ever to have our DNA analyzed and get answers about our disease risk simply by dropping a sample of saliva in the mail. But the human genome contains a massive amount of information, approximately 3.2 billion bases of DNA to be exact, and direct to consumer genetic tests vary in what they’re testing for and how they’re doing it. According to the Federal Trade Commission, some are not even scientifically valid. What’s more, the results of many genetic tests are best interpreted by a trained medical professional or only make sense in the context of a full medical evaluation.[1]

Our genes and their potential abnormalities are complex, and the wide spectrum of genetic testing options warrants specific expertise. A medical professional trained in medical genetics is a key partner in determining if genetic testing is appropriate, what test(s) should be ordered, and how results should be interpreted. The Federal Trade Commission and Centers for Disease Control and Prevention strongly recommended that individuals considering genetic testing seek guidance from a trained medical professional – a genetic counselor or medical geneticist.[2]

What is Genetic Testing?

Genetic testing examines a person’s genes, chromosomes, and proteins to identify inherited mutations, or abnormalities through a blood or saliva sample analyzed in a laboratory that specializes in genetic testing. There are certain genetic mutations that can increase an individual and family’s risk for various diseases including cancer. Inherited genetic mutations account for about 5-10% of all cancer cases.[3] Many of us have heard of BRCA 1 and 2 as inherited genetic mutations that can be precursors to several cancers including breast, ovarian, prostate, melanoma, and pancreatic cancer.[4] In fact, there are over 83 cancer-related inherited genes that can be tested for.

Understanding the implications of genetic test results can be complex. Inheriting a cancer-predisposing genetic mutation does not necessarily mean cancer is inevitable. Several factors influence an individual’s outcome including the pattern of inheritance[5] and how genes interact with one another as well as with their environment[6]. A genetic counselor is specially trained to help patients understand the meaning and their unique disease risk associated with their genetic testing results.

What is Genetic Counseling?

Certified genetic counselors are medical professionals who have special training in medical genetics and in counseling patients on making informed decisions about genetic testing.[7] Most genetic counselors provide services as part of a hospital or clinic, and some specialize in different medical disciplines such as oncology, neurology, prenatal or cardiovascular medicine.

In a cancer genetic counseling appointment, the genetic counselor will review the patient’s family tree and medical history to assess possible risk of inherited cancer syndromes, educate the patient on the pros and cons of genetic testing, and provide guidance on deciding whether to pursue testing. If the patient chooses to move forward with genetic testing, the genetic counselor orders the appropriate test, interprets the results and explains them to the patient.[8]

For patients whose inherited mutation put them at greater risk, a genetic counselor may also recommend screening or surveillance options as well as prevention efforts that can minimize cancer risk and offer guidance on communicating results to family members who may also be affected.

Who Should Consider Genetic Counseling and Genetic Testing?

Genetic testing is not beneficial for everyone. Experts recommend testing should be considered when an individual meets all three of the following criteria:

1) Has a strong family history of cancer that suggests an inherited cancer syndrome
2) Results can be accurately interpreted
3) Results will provide information relevant to the individual’s future medical care.

If you have a strong family history of cancer and want to understand your inherited cancer risk, it is best to start by scheduling an appointment with a genetic counselor or talking with your physician.

The following websites can help in locating a certified genetic counselor near you:

National Society of Genetic Counselors
American College of Medical Genetics and Genomics
American Board of Medical Genetics and Genomics
American Board of Genetic Counseling