It can be overwhelming to go into a doctor’s appointment to discuss a medical concern for yourself or a loved one. Often when we are worried about our health, we can think of a million questions in the days leading up to a doctor’s appointment, but when we actually sit down with the doctor our minds go blank. Just the other day I went in for one of my kid’s check-ups at the pediatrician’s office and I couldn’t remember any of the questions I wanted to ask him!
When we meet with a genetic counselor, it’s most likely because we are concerned there is a genetic condition running in our family or we are at risk of inheriting a genetic condition that is already identified in our family. While I have personally never experienced it, I would imagine how stressful and worrisome it would be to have to wait for an appointment with a genetic counselor to talk about genetic testing and then wait for your results to see if you have a risk or diagnosis. I think it would be hard to remember all the different questions you have about the genetic condition, what your risks are, what it’s going to cost, etc. When my dad was diagnosed with cancer, the first few days were so crazy, and my head was filled with so many questions- what are the treatment options? Which doctor should he go to? What if he doesn’t make it? Not to mention all the technical questions I’m sure my mom had when they first found the cancer at the hospital. It can all be overwhelming when it comes to health and mortality.
I always encourage my patients after a new diagnosis or new information about your medical family history that as you think of questions, write them down. Then you can decide which questions are most important to ask your doctor or healthcare provider. Sometimes it might be all the questions you have written down, sometimes it’s only a few. Either way you know you won’t forget them!
Here is a list of the questions I think are important to ask your genetic counselor, whether you are the one doing genetic testing, or you are meeting with a genetic counselor to support a family member who is pursuing genetic testing:
What are you going to talk about during the genetic counseling session?
A genetic counselor often discusses at the beginning of a genetic counseling session what he or she plans to talk with you about during the session. A genetic counseling session typically includes reviewing your personal and family medical history, assessing your risks, discussing the genetic condition, and considering genetic testing options.
What are the features of the genetic condition?
It’s important to understand what symptoms may arise if you are diagnosed with a genetic condition after confirmation via genetic testing. You or a loved one can be prepared for what may happen and what to look for as the person diagnosed ages.
What causes the genetic condition?
This question is critical to understand for both the person being tested for the genetic condition and their family members. Understanding what causes the genetic condition (ie gene variants, environmental causes, if the genetic variant was sporadic or inherited, etc) can play a role in potential treatment and medical screening options. In addition, understanding what causes the genetic condition can help family members know if they are at risk for the condition as well.
How is the genetic condition passed on in a family?
In many genetic conditions, genetic variants can either be inherited from a parent or occur sporadically at conception. If the cause of the genetic condition is found to be inherited from a parent, then other family members are also at risk to have the genetic condition. Often family members have a risk of up to 50% of inheriting the genetic variant depending on the genetic condition and how it is inherited.
What are the treatments for the genetic condition?
While a genetic counselor will not prescribe medication or recommend specific treatments, he or she can review common treatment options for a genetic condition and refer someone to medical specialists who can recommend the best treatment options given the patient and their situation.
Which medical specialists should I see for this condition?
Sometimes it can be important to get set up with medical specialists soon after diagnosis of a genetic condition to screen for possible health concerns (ie malignancy, heart conditions, etc). A genetic counselor should discuss with you which medical specialists to establish care with and possibly offer recommendations for providers.
Are there any organizations or support groups for this condition?
Depending on the person and the situation, it can be nice to connect with other people who have the same genetic condition. People with the same genetic condition can sometimes offer each other emotional support and mutual understanding. In addition, some organizations for genetic conditions have excellent and current information on treatments, clinical trials, and financial aid. Partners or caregivers can also seek information and support in support groups and organizations for specific genetic conditions.
How will this condition affect me financially?
Receiving a diagnosis of a genetic condition can be overwhelming in all areas of a person’s life- emotionally, socially, physically, and mentally. In addition, there can be the cost of medical treatment or paying to see specialized medical professionals to worry about as well. While a genetic counselor won’t be able to tell you specifically how much a genetic condition will cost you, he or she can review what parts of treatment and follow-up care may cost you and help guide you to where to start to figure out your medical expenses.
How does the process of genetic testing work?
Many people have no idea how genetic testing works- do they have to take tissue to test? Or an organ?? To know what to expect before going through the genetic testing process can reduce a lot of anxiety. A genetic counselor can review with you how a genetic test works and the logistics of getting the test done (ie blood draw, paperwork, when to expect results).
What are the genetic testing options?
Now a days there are many different genetic testing options, and it can be tricky to navigate which test is appropriate. A genetic counselor often considers the quality of the genetic testing laboratory, price, accuracy, how long it takes results to be completed, and much more before picking a lab to do their patient’s genetic testing. In addition, there are genetic tests ranging from testing one gene to hundreds of genes. A genetic counselor can discuss with you the best test for your situation and explain the reasons behind choosing that genetic testing option.
How accurate are the genetic testing options?
Most major genetic testing labs will display on their website the accuracy of each genetic test they offer. A genetic counselor will often look to see what the accuracy of a specific genetic test is to determine if that lab is offering the most accurate test. If you have any questions or concerns about the accuracy of a genetic test, it is important to discuss them with your genetic counselor prior to genetic testing.
What does the genetic test cost?
Often laboratories offer self-pay rates for patients whose health insurance does not cover the cost of a genetic test. The self-pay rates are typically a few hundred dollars depending on the test. Most genetic testing laboratories will check your health insurance BEFORE proceeding with genetic testing to determine what your out-of-pocket cost will be. Your genetic counselor should review the cost options and logistics before proceeding with testing.
What if I take the genetic test and it’s negative?
This question appears to be pretty straightforward- if you’re negative, you’re done worrying! Wrong. A genetic counselor should explain what your genetic test means if results indicated negative. Sometimes a negative result does mean that a person is a true negative and does not have a genetic condition, other times a genetic counselor will suggest additional testing. Sometimes we don’t find an answer from a genetic standpoint and have to rely on personal and family medical history to determine the best medical treatment and screening.
What if I take the genetic test and I receive an unclear result?
There are circumstances when a genetic test result indicates a gray area result, or unclear result. In these situations, a genetic counselor can walk a person through the result and discuss what it means moving forward. In addition, a genetic counselor can check for updates on the result in future years to determine if it changes to a positive or negative result, which can then have implications for a person’s medical care.
Will I need to take the same genetic test again in the future?
More often than not, the answer to this question is no. However, this question can be important to know to plan for future medical care and follow-up.
If you have questions for a genetic counselor or need to schedule an appointment due to a family history of a genetic condition or personal diagnosis of a suspected inherited condition, please contact AT-GC to meet with a genetic counselor.