If you’re considering starting a family, you may have some concerns about possible genetic or heritable conditions that you could pass on to your child. Meeting with a genetic counselor can give you more information and help you decide on next steps, but you may not know what information to gather to make the best use of your time, what to expect at genetic counseling, or what will happen at the appointment — we can help answer those questions.
What Does a Genetic Counselor Do?
Genetic counselors are health professionals who have completed specialized training in two areas: genetics and counseling. Typically, they’ve completed a bachelor’s degree, which may be in biology or a related field, and a master’s degree in genetic counseling from a specialized program. Many genetic counselors in the United States are certified through the American Board of Genetic Counseling (ABGC) and may also be licensed by their state. In Canada, the Canadian Association of Genetic Counsellors (CAGC) certifies genetic counselors. There are genetic counseling training programs established throughout the world, although there is variability between training programs, with classroom learning and supervised clinical rotations with patients.
The role of a genetic counselor is to guide and support people who want more information about genetic conditions and diseases, and how these might affect them and their families. They are trained to evaluate your risk factors, discuss the genetic testing process and options with you, including its accuracy and limitations, and help you come to an informed decision about how to move forward. Genetic counselors are qualified to interpret genetic test results, and they are skilled at providing emotional support throughout the process of genetic testing and screening.
How Can I Prepare for My Appointment?
One of the most important things you can do to prepare for your genetic counseling visit is to collect your family health history, according to the National Society of Genetic Counselors. The more detailed and extensive a history you can collect, the more information the genetic counselor will have to work with, and the better their recommendations will be.
Don’t stop at your siblings and parents; write down everything you know about medical conditions among your grandparents, aunts, uncles, cousins and any children or grandchildren you already have. Start early: You may need to contact family members and ask for this information. You should also consider using My Family Health Portrait, a free tool to help collect and organize this information. The tool allows you to save information and update it as new information about family members is discovered.
If you have family members who have had genetic testing, get a copy of their results as well. If you have family members with a genetic condition, their medical records may also be helpful to collect, if possible. Bring whatever you can gather, but don’t put off the appointment if you’re missing information.
Bring your medical records to the appointment: Be sure to include any genetic testing results you may already have. Call your health insurance company to see if the visit is covered, if genetic testing is covered and under what conditions or circumstances.
Write down a list of the questions you have for the genetic counselor. These might include questions about an inherited condition that you already know is in your family. For example, you may want to know how likely it is that your children will develop the condition, whether there is a cure for it, how it is treated and whether preimplantation genetic testing (PGT) can be used to diagnose it.
What Should I Have Available at My Appointment?
Make sure to have access to your medical records, family health history and any genetic test results you have. Keep a notebook and pen handy so you can take notes or write down action steps. Also, bring your list of questions for the genetic counselor.
Your partner or spouse may be with you at the visit, but if you don’t have a partner, consider asking a friend or relative to go with you for support and to help remember information. Partners or support persons may also be able to participate via Skype or conference call.
What Will Happen at the Genetic Counseling Appointment?
Each genetic counselor may have a different approach to his or her counseling. Generally speaking, the counselor will start by asking what you want to learn from your visit and any questions or concerns you have about the genetic tests you are being offered; your personal and family medical history; and your future pregnancy. This will guide the agenda for the remainder of the visit. The genetic counselor will then take a detailed family history from both partners.
Next, the genetic counselor will give you an assessment of your specific genetic risks along with options and a strategy for screening and testing. They can also help you understand your testing options and support you in your decision-making process.
The amount of information can feel overwhelming. It’s important to remember that you don’t have to make any decisions at the appointment itself. You may want to go home and take some time to process the information you received, read additional information provided by your genetic counselor, and discuss all of it with your support system.
Genetic counselors are adept at supporting you emotionally. Many people report that they feel reassured after their genetic counseling appointment, with a better understanding of their risks and options. This can help them feel empowered to understand their choices and make informed decisions.
Finally, your genetic counselor may schedule a follow-up appointment. If you choose to have genetic testing, they can help you with the logistics of that process, review your tests and discuss next steps. If you choose to proceed with preimplantation genetic testing (PGT), having your genetic counselor be part of the team at your fertility clinic can help provide continuity of care, as they may be able to help you navigate the PGT process for your specific genetic condition.
Lauren Arcuri is a freelance writer in northern Vermont. She writes about science, health, and medicine, including genomics, neuroscience, and rare diseases. She has written for Pacific Standard, Proto, Genome, Yoga Journal, and many other publications.