Five Things to Know about Genetic Counseling and Rare Genetic Disease
Coping with rare genetic disease is a journey. Along the way, questions may arise about inheritance and genetic testing. Genetic counselors are specially trained healthcare professionals who can provide personalized advice and support.
Why should people or families affected by rare genetic disease consider talking to a genetic counselor?
Sometimes families assume that their main source of information about genetics will be the medical team that made the diagnosis, and that may be true. However, for other families, other resources might also help them. If families with rare genetic diseases have any of the following questions, a genetic counselor can spend the time to help find the answers.
● What testing was done to diagnose the rare genetic disease and what do the results mean?
● What is the role of genetics in causing the disease?
● What symptoms of the particular rare genetic disease typically develop over a person’s lifetime?
● Is the disease inherited?
● What are the chances for other family members to develop the disease or have a child with the disease?
● What type of genetic testing is available?
● Are there resources and support for families with the rare genetic disease?
What is genetic counseling and who are genetic counselors?
Many people confuse genetic testing with genetic counseling. The two are often paired together but are not the same. Genetic counseling is a conversation with an expert in genetics about how genetic information could impact the health of a person or family members. Genetic testing is a laboratory process to look at a sample of a person’s DNA to see if there are changes, or variants, that are known to cause genetic disease.
On the other hand, genetic counselors are healthcare professionals who can be rare disease allies! They wear many hats when it comes to rare genetic diseases. Genetic counselors use their specialized training in genetics and communication of complex medical information to work with families, testing laboratories, researchers, and rare disease support groups to help advance scientific knowledge and advocate for their patients.
Some people may meet with a genetic counselor when they or their child is first diagnosed with a rare genetic disease to understand how the gene causes the disease and how the disease is inherited. In that case, they may not even discuss genetic testing. At other times, a genetic counselor may explain whether genetic testing could be helpful for a family. A genetic counselor will not pressure people to have genetic testing but instead will help them make decisions that are right for them and their families.
What should families expect to happen at an appointment with a genetic counselor?
A genetic counselor will often start by asking a family what they are hoping to learn about the genetics of the rare genetic disease in their family. Genetic counselors also typically will ask some questions about family medical history and draw a family tree. After reviewing any medical records and considering the family medical history, the genetic counselor will likely explain how the genetic disease in the family is inherited and who, if anyone, might have a chance to develop the condition or have a child with the disease. After that, the family may have questions for the genetic counselor. The counselor may also suggest some resources or support groups if the family has not already found those on their own. Sometimes families with rare diseases feel isolated or find it difficult to cope with a new diagnosis, so the genetic counselor can provide support and identify resources to help cope with those feelings.
When might a family affected by rare inherited disease consider genetic counseling?
A family might want to meet with a genetic counselor at different points in their journeys but here are some common times when genetic counseling might be helpful:
● During evaluation (or workup) for a genetic diagnosis
● At time of diagnosis of a rare genetic disease and immediately after
● When parents of a child with a rare genetic disease are considering having another child
● When a person with a rare genetic disease reaches an age when they start thinking about children of their own
● When family members of a person with a rare genetic disease are considering having a child or wondering if they might develop the disease
How do families affected by rare disease find a genetic counselor?
Today, there are many avenues to find a genetic counselor. With the advances in telehealth and technology, it is not required for families to go to an academic medical center. They can use the “Find a Counselor” tool on www.nsgc.org or use one of the many telehealth companies that offer genetic counseling over the phone or video.
Elizabeth Kearney, MS, CGC, MBA
Elizabeth Kearney, MS, CGC, MBA is a licensed genetic counselor and founder of Mainstream Genomics, LLC, which aims to help people who are pregnant or planning for pregnancy find the right genetic services for them. She is a past President of the National Society of Genetic Counselors and speakers nationally and regionally as a thought leader in genetic service delivery. Liz has a Master’s in Human Genetics From the University of Michigan and an MBA from Kellogg School of Management at Northwestern University.
