Georgia Hurst is a patient advocate for those with Lynch syndrome. She has the MLH1 mutation and fortunately has never had any cancer. She is the co-creator of #GenCSM (Genetic Cancer Social Media) on Twitter, and her advocacy work has afforded her opportunities to write for medical journals, various websites and genetic testing companies, as well as collaborate as a stakeholder for the National Academy of Sciences: Genomics and Population Health Collaborative. Her loves include: her son, her dog, books, photography, long walks in the woods, and seeking out fungi after the rain. Her motto is: "There is enough misery in the world – there’s no need to contribute to it.”
Genetic testing is becoming more prevalent and as an advocate for those with hereditary cancer syndromes, I spend countless hours talking to people who have had genetic testing without seeing a certified genetic counselor. Genetic testing, sans genetic counseling is highly problematic – most doctors do not have the time or the bandwidth to discuss genetic testing results and the swath of implications with their patients. In turn, this leaves many patients confused, clueless and anxiety ridden – many patients do not know how to proceed with this information. The importance of a genetic counselor before and after genetic testing cannot be overestimated.
Genetic counselors are certified, graduate-trained professionals who can help a patient understand whether or not he/she is at risk for a genetic mutation, which testing would be most beneficial and how to interpret and use test results. A genetic counselor can provide a patient with information that could potentially save his/her life and the lives of others in their family. Although many health care professionals throw up a shingle claiming that they can offer genetic counseling and testing, certified genetic counselors are highly trained to deal with the scientific and the psychological aspects of genetic testing.
Genetic counselors are fonts of knowledge for those with hereditary cancer syndromes and can provide patients with a swath of information to help navigate through the complexity of a positive test result. They may help a patient get insurance authorization for genetic testing and have access to the resources that may actually help him/her reduce the risk of getting sick and dying. Genetic counselors are aware of special health care services a patient may require, they can help patients get the emotional support they need, and can assist patients in finding doctors who are well-versed in the issues for those with potentially significant heath issues.
The following is based on my experiences with genetic counselors:
Your visit with a genetic counselor will include a detailed conversation about your family medical history. It would be exceptionally helpful if you could come prepared with a family medical history tree, which includes the ages/causes of deaths within your family, as well as the ages of diagnosis of disease and current ages of all family members. This will enable the genetic counselor to determine if there is a genetic pattern of disease within your family. They will then take that information and decide if genetic testing is appropriate for you; however, you do not need to decide right there and then if you want to be tested – you get to choose when and if genetic testing is right for you. Genetic counselors will only recommend genetic testing if they believe there is reason for it – they will by no means force you to undergo genetic testing. If you do decide to move forward with the test, genetic testing can be done with a simple blood test or with a small sample of saliva.
If your are considering genetic testing because a family member contacts you who has tested positive for a mutation, please bring a copy of their genetic testing paper work with you — their name can be whited-out for privacy. This will let the genetic counselor know which specific mutation you should be tested for and will make the process much easier for all involved. If you do not have access to that information, do not worry: A genetic counselor will be able to figure out which genetic test would be most helpful for your circumstance.
If you do decide to move forward with genetic testing, you will have to wait a few weeks for your results — waiting time for genetic testing results vary. It's not uncommon to feel anxious during this time. Talk to your genetic counselor — they may be able to refer you to a therapist to help you deal with your emotions.
When your genetic tests do come in, your counselor will contact you (I highly recommend that you go into their office and bring others for support, if you can). You should consider asking the genetic counselor if it would be OK to record your conversation so that you may revisit it in case you forget something (Note: Many smartphones have a voice recording feature). Take notes and ask questions! Genetic counselors are prepared to answer your concerns.
All too often people assume that genetic counseling includes psychotherapy. This is incorrect. A genetic counselor will provide you with information about your test results and what it is recommended you do in order for you to maintain your health, along with a letter for your family members who may also be at risk.
Bring your insurance card. Most insurance companies recognize the tremendous benefits of genetic counseling and have no qualms paying for most, if not all, of it, if you meet criteria. If there are insurances issues, talk to your genetic counselor about them before testing. Some genetic testing companies recognize the importance of genetic counseling during the genetic testing process and are providing genetic counseling services for free. Also, due to the Genetic Information Nondiscrimination Act of 2007 (GINA), patients cannot be discriminated against because of genetic testing results. Life insurance can still discriminate based on the genetic testing results in some states, although some states have laws that provide more protection in that area and protections can be different if you are in the military. Please talk to your genetic counselor for more details.
I know patients who have undergone genetic testing without using a genetic counselor. Unfortunately, doctors confused genetic mutations and this led to dire circumstances. One woman’s doctor unnecessarily removed her reproductive organs at the age of 23 — her physician confused FAP for Lynch syndrome. I spoke with another woman just recently who was just diagnosed with Lynch syndrome and her doctor, a general practitioner who had her genetically tested without a genetic counselor, told her to she just needed to have more frequent colonoscopies. This is simply a testament to the fact that some doctors don’t understand that Lynch syndrome is not simply about colon cancer. Lynch syndrome increases one’s chances of developing one or more of over a dozen cancers – not just colon cancer. The doctor also failed miserably to tell her that all of her six adult children should consider genetic testing as well, since each one of them has a 50/50 chance of inheriting Lynch syndrome.
One gentleman called me a few months ago to tell me he was wracked with guilt for not seeking genetic testing for Lynch syndrome even though many people within his family encouraged him to do so for years. He recently lost he lost his 32-year-old son to colon cancer and soon thereafter, discovered he, too, had stage 4 colon cancer. Had the father sought out genetic counseling and testing, he could have possibly prevented his son’s death and maybe his own. Genetic testing, coupled with genetic counseling, can possibly save your life and the lives of others in your family.
If you are considering genetic testing, please ask your doctor for a referral to a genetic counselor or go to The National Society of Genetic Counselors website. If you live too far away from a genetic counselor, know that there are genetic counselors available by phone.
Gratitude to Ellen Matloff, president, My Gene Counsel, for her comments on this work.
Georgia M. Hurst, MA
Founder, executive director, ihavelynchsyndrome.com