Perhaps you’re curious about your odds of getting cancer after a loved one has been diagnosed. Genetic testing is becoming commonplace among those who want to be proactive about their future health. Counseling prior to testing, however, occurs in only about 40 percent of cases.
The potential benefits of early discovery of high-risk status are significant, but there are other things to consider. Therefore, it’s imperative to have the appropriate counseling and education before undergoing genetic testing.
Why is counseling important?
▪ It’s important for patients to understand the implications of positive results, including the need for additional screenings or surgical procedures, such as a mastectomy or hysterectomy before a diagnosis of cancer, to prevent occurrence of the disease.
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▪ With the finding of more genetic mutations related to increasing cancer risk, you may uncover a genetic mutation that you were not expecting. For instance, in a family history strong in breast cancer, if a CDH1 mutation is identified, the national recommendation is for a total gastrectomy — surgical removal of all or part of the stomach. If you aren’t prepared for the unexpected possibilities, then this can come as an extra blow.
▪ Negative results do not mean you are truly negative. It could mean that the right genes were not tested, or we haven’t identified the gene(s) yet to test for.
▪ Emotional concerns. Waiting on results can create fear and anxiety for you, or other family members who worry about their own well-being. Discovering an inherited mutation could create guilt or anger in the parent who passed it on or the child who received it. You may even have to deal with sensitive family subjects as a result — paternity, adoptions or other issues.
When considering genetic testing, first talk to your physician about your concerns. Then, if you have an interest in pursuing testing, talk to a genetics practitioner, a health care professional with specialized training in genetics. Entering the process informed and prepared will help ease the journey.
What genetic counseling will tell you
▪ Background information on genes, mutations and heredity
▪ How useful the testing may be to your situation
▪ The types of testing options available and how they work
▪ What to expect during testing
▪ The possible test results you may receive and what they mean for your future health
▪ The emotional impact of testing on you and your family
▪ Costs involved and whether your insurance will cover it
▪ Legal issues related to genetic testing and your rights therein
What a pre-screening will explore
▪ Why you want genetic testing
▪ Your family history of cancer
▪ Your own medical history, including preventive measures being taken
▪ Related cultural attitudes or beliefs
▪ Other related lifestyle factors
When to consider testing
▪ Multiple immediate family members have had cancer, particularly if it’s the same kind of cancer.
▪ Your family history includes several cancers (breast, ovarian, pancreatic and more) that are known to be linked to a mutation in one specific gene.
▪ A family member develops cancer at an age younger than it normally occurs.
▪ Extended family members with rare cancers linked to an inherited gene mutation
▪ Polyps or other physical signs linked to hereditary cancers
▪ Discovery of a gene mutation in a family member who has already undergone testing.
Regardless of whether you are exploring genetic testing on your own or were referred by a health care provider, you have the final say in whether you undergo testing. Genetic counseling will help you understand what your plan of action should be going forward.
Maggie Ward, MSN, APRN, is the coordinator of cancer outreach and risk assessment at Via Christi Hospital-St. Francis.