In my opinion, as an advocate for those with hereditary cancer syndromes, undergoing genetic testing without the guidance of a certified genetic counselor

ge·net·ic coun·sel·or

A healthcare professional with specialized graduate training in the areas of medical genetics and counseling. Genetic counselors provide information and support to patients and families about genetic disorders and the risks for inherited conditions

is generally not a good idea. Genetic testing is complex, on various levels, and may result in many possible issues and unexpected outcomes. Many well-meaning doctors simply do not have the time or education to understand the gravity of the genetic Pandora’s box, and this is why I am adamant in my advocacy work that patients seek out certified genetic counseling.

Knowledge is only power for people when patients have accurate information and are properly equipped with the resources needed for them to take action in order to maintain their health or reduce their cancer risks.

Many people considering genetic testing are concerned about being discriminated against by insurance companies and are unaware of GINA.  Genetic testing can provide you with some important information about your potential genetic destiny if you understand your risks and take appropriate actions to minimize them – but simply being genetically tested is not enough. If you do decide to pursue it, please be sure to consult with a certified genetic counselor to ensure the right test is ordered for you and that your test results are correctly interpreted. If you do test positive, your particular mutation and results will determine your medical management recommendations.

For example, I have a MLH1 mutation – due to my particular family medical history and mutation, it is recommended that I receive annual, meticulous, special colonoscopies to prevent or detect colon cancer at its earliest stages – when it is most treatable. People with Lynch syndrome tend to develop flat polyps, which may be difficult for some doctors to see so you want to be sure that your doctor is highly knowledgeable about Lynch syndrome and the current unique colonoscopytechniques being used to detect flat polyps.

There is a cauldron of ethical issues involved with genetic testing and certified genetic counselors are aware of them and can help you sort through them. Many patients are concerned with maintaining their privacy but withholding potentially life-saving information from relatives who may also be affected has moral implications. Some people may want to have children but may not understand the implications of passing on an autosomal dominant mutation.

Some parents are understandably concerned for their minor children and may want to know if they, too, are mutation carriers; however, it is not always in the best interest of a minor child to genetically test for adult onset cancer syndromes. There are a few exceptions to this and this one reason why it is important to consult with a certified genetic counselor.

What if you have absolutely no family history of cancer and discover you have a “de novo” mutation, meaning that you are the first family member to have a deleterious mutation, or discover you have a “VUS” otherwise known as a variant of unknown significance? How do you proceed with such information? These are all situations which certified genetic counselors are highly trained to deal with – they are founts of knowledge and resources for the many challenges which may result from being genetically tested.

Unexpected economic demands may arise from genetic testing. For some, the gravity of knowing you have a hereditary cancer syndrome can be overwhelming and may require professional psychological or psychiatric assistance. Insurance coverage for psychotherapy and psychiatric visits vary, and medicine to help you through a challenging period can be costly.

Having organs at risk for cancer removed before cancer develops is recommended for some hereditary cancer syndromes and may bring about unexpected issues and complications. Body esteem and sexual identity issues are not uncommon for many women with hereditary cancer syndromes who have their breasts and reproductive organs removed. Having your ovaries removed when you are far off from achieving menopause naturally can be highly challenging for many women, opening them up to a host of other medical issues. It is not uncommon for women to develop depression, migraines, gain weight, osteopenia, osteoporosis, cognitive decline, and cardiovascular issues. If you are a candidate for hormone replacement therapy, please know that it may take several months, if not years, to get the right amount of HRT to help you adjust to your new body. Preventing cancer through prophylactic surgery may come with a huge cost – emotionally, physically, and financially. This needs to be balanced by the increased risk to develop these cancers.  Speaking to a knowledgeable doctor about the pros and cons of prophylactic surgery is in your best interest.

There are myriad of possible outcomes and issues, which may follow genetic testing -- the few that I mentioned are the ones that I have the most experience with through my advocacy efforts – there are countless others. Please be sure to seek out a certified genetic counselor prior to and after genetic testing to minimize these issues, or at the very least, to have them provide you with the necessary resources to help you through the challenges you may encounter while trying to minimize your cancer risks.

Georgia Hurst, MA

Founder and Executive Director of ihavelynchsyndrome.com