What does a Genetic Counselor do and when do you need to talk to one? Find out here!
Series Overview: Doctors usually turn to genetic testing to screen for health risks or spot diseases that are hard to diagnose, but the available education surrounding what these tests actually do is often bogged down with confusing scientific language that makes it difficult to understand. This is where Genetic Counselors (GC) come in to provide personalized assistance to both patients and their families. My name is Elizabeth and I have a Masters degree in Human Genetics & Genetic Counseling, which means that I spent 2.5 years after 4 years of college learning how to become a translator of the alphabet soup that is Genetics and explain it in a way that makes sense to everyone. If you are here reading this blog you may be dealing with some health complications that do not have a known cause, your doctor may have suggested genetic testing and/or counseling to learn more about your risk factors for disease or symptoms your body is showing, or you may just be curious about this type of testing in general. Ask a GC is a blog series that aims to empower patients (like you!) to know WHO to ask, WHAT to ask, WHEN to ask it, and WHERE to find answers about your Genetics questions and how they play into your healthcare journey. As a Genetic Counselor who has seen all types of genetic disease both professionally and personally, I aim to bring you this information with compassion and understanding as you navigate the interesting but sometimes overwhelming world of Genetics!
Please note: Though GenomicMD's Ask a GC series is written under the guidance of healthcare professionals and may refer to recent medical recommendations, it is not intended to be used as personalized medical advice. For medical evaluation or to develop a healthcare plan, please speak with your doctor or healthcare provider.
Genetic counseling is a healthcare service that gives you information about how genetics/genomics and genetic conditions might affect you or your family. In a genetic counseling session, a genetic counselor or sometimes another healthcare professional will collect your personal and family history to help determine if there may be any patterns of genetic risk to consider. (Note: all words in bold throughout this post will be defined in the glossary at the bottom of this page)
Depending on your personal and family history, your doctor might refer you for genetic counseling for a number of reasons. There are many different stages in your life when you might be referred:
Genetic counseling before becoming pregnant can address concerns about factors that might affect a baby during infancy or childhood or your ability to become pregnant, including…
Genetic counseling while someone is pregnant can address: certain tests that may be done during the pregnancy, any problems detected in the pregnancy, or possible genetic conditions that might affect the baby during infancy or childhood. Reasons to see a Genetic Counselor could include…
Genetic counseling can address concerns such as if your child might be showing signs or symptoms of a disorder that could be genetic, including…
Genetic counseling for adults includes specialty areas such as cardiovascular, psychiatric, cancer, and more. Genetic counseling can be helpful if you have symptoms of or have a family history of a condition that makes you more likely to be affected, or if you simply want to talk to someone about genetic testing to learn more about your risk of genetic disease. Some common reasons for referral include…
Following a genetic counseling session, you might decide to have genetic testing. This is another area where a Genetic Counselor may be able to help: to make sure that you have made an informed decision about the best test for you and your family, to develop a plan for how to submit your sample (usually just blood or saliva) and receive results, and to create an understanding of how you will be billed for the testing (such as insurance or self-pay). Genetic Counselors can also help explain the laws surrounding genetic information, and assist you in better understanding your test results and what they mean for you and your family.
Many laboratories offer follow-up genetic counseling services to discuss their test reports. There are also a variety of other modalities and resources to access genetic counseling services whether you prefer to meet with someone in person, via phone, or by video, such as:
The Find a Genetic Counselor search tool from the National Society of Genetic Counselors. This is usually a good place to start to find local Genetic counselors, and to make sure that all of your concerns can be addressed in an in-person genetic counseling session.
You can also find a Genetics clinic using the American College of Medical Genetics clinic database. Sometimes a Genetic Counselor will want you to see a Medical Geneticist or a more specialized Genetics specialist as well because you might need a physical exam to help determine what type of genetic testing, if any, you might need. Geneticists have advanced medical training to evaluate for many types of genetic conditions, so sometimes this is the correct path for families. Either way, a Genetic Counselor can help you figure that out!
Thank you for allowing me to explain the many things that a Genetic Counselor can do, and why someone might want to speak with one of us - a question I answer all the time at parties! Genetics can be scary and overwhelming, but my job is to help you make sense of it all and make the best decision for you and your family. Please join me for future posts in the Ask a GC series, which will review some of the benefits, limitations, and considerations of genetic testing.
Genetic Counseling - Guidance relating to genetic disorders that a specialized healthcare professional (Genetic Counselor) provides
Family History - A record of the diseases and health conditions in your family
Birth defect - Structural changes present at birth that can affect almost any part or parts of the body
Assisted Reproductive Technology (ART) - All fertility treatments in which either eggs, sperm or embryos are handled
Chorionic Villus Sampling (CVS) - A prenatal test that involves taking a sample of tissue from the placenta to test for genetic or chromosomal conditions
Amniocentesis - The sampling of amniotic fluid using a hollow needle inserted into the uterus to check the baby’s chromosomes or examine for diseases such as infections or genetic disorders
Cystic Fibrosis - A progressive, genetic disease that affects that lungs, pancreas, and other organs
Sickle Cell Disease - Inherited disorder in which the red blood cells have a crescent shape, block small blood vessels, and do not last as long as normal red blood cells
Newborn Screening - A public health service done in each U.S. state. Every newborn is tested for a group of health disorders that differs depending on the state
Intellectual disability - Problems with general mental abilities that affect functioning and/or a person’s ability to learn at an expected level in daily life
Developmental disabilities - A group of conditions due to differences in physical, learning, language, or behavior areas. These conditions begin during the developmental period, may impact day-to-day functioning, and usually last throughout a person’s lifetime
Autism Spectrum Disorders - A developmental disability caused by differences in the brain. Some people with ASD have a known genetic condition. Other causes are not yet known.
Hereditary Breast and Ovarian Cancer syndrome - A genetic condition that makes it more likely that a person will get breast, ovarian, and other cancers
Lynch syndrome - An inherited disorder in which individuals have a high-than-normal chance of developing colorectal cancer and certain other types of cancer, often before the age of 50
Familial hypercholesterolemia - A genetic disorder where you may have exceptionally high levels of cholesterol in your blood which increases the likelihood of having coronary heart disease at a younger age
Muscular dystrophy - A group of diseases that cause progressive weakness and loss of muscle mass
Huntington’s disease - A rare, inherited disease that causes the progressive breakdown of nerve cells in the brain
IVF - “In Vitro Fertilization” is a process where an egg is combined with sperm in a lab environment
IUI - “Intrauterine insemination” is a procedure for treating infertility. Sperm are placed directly in the uterus around the time the ovary releases one or more eggs to be fertilized
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