Celebrating Genetic Counselor Awareness Day
At Celmatix, we’ve seen firsthand just how important a role genetic counselors can play when it comes to taking care of patients. Not only do they help patients understand the often complicated relationship between genetics and health, they also provide direct support as patients navigate the decisions they have to make with that genetic information in mind.
For last year’s Genetic Counselor Awareness Day, we asked some certified genetic counselors in our network to explain what inspired them to enter the field. This year, we asked them to shed light on some of the most common misconceptions they encounter in their work with patients and their families.
Genetic Communications Specialist
When people describe their risk of a genetic condition, they often say things like, “The gene for cystic fibrosis runs in my family” or “I have the BRCA gene.” While this is technically true, it is one of the most common misconceptions in genetics.
All of us (typically) have two copies of each gene on the numbered (not X and Y) chromosomes. We inherit one copy from our biological mother, and the other from our biological father. Usually, when people talk about having a gene that causes a condition, what they’re actually referring to are relatively rare changes (also known as variants or mutations) in a gene that can stop it from working correctly, and therefore cause or increase risk for that condition.
That means that we ALL have the so-called cystic fibrosis genes, BRCA genes, and many, many more—though a majority of us don’t have the variants that are actually associated with disease.
So the next time you hear someone say, “I have the gene for that,” chances are, you do too!
Genetic Communications Specialist and Clinical Liaison
I often encounter patients who say, “Well, I look just like my mom and she had breast cancer (or Alzheimer's or Rheumatoid arthritis, etc), so I'll probably get it too.” Fortunately, that's not the way it works.
Most of the genes that are involved in determining our physical characteristics—like height, eye color, hair color, and facial features—are inherited independently of the genes that are involved in determining our health. So looking like the mirror image of a parent does not increase your likelihood of having the same or similar health problems as that parent anymore than just being related to them.
In fact, most health issues and physical characteristics are determined by multiple genes combined with environmental and lifestyle factors, so the likelihood that you develop the health problems of either of your biological parents might be increased compared to people without a family history, but it’s also probably a whole lot lower than you think.
Genetic Communications Specialist and Medical Science Liaison
One misconception I came across during my time seeing prenatal patients is regarding how to interpret the risk of passing along a recessive condition. If both parents are carriers of a specific variant associated with cystic fibrosis, for instance, the couple has a one-in-four (25%) risk of having a child who is affected with the disease. If their firstborn is affected with cystic fibrosis, parents sometimes mistakenly believe that their subsequent children will either not have the condition, or will at least have a reduced risk for it.
This is, of course, not the case; in actuality the risk applies to every child independently, so each has a one-in-four risk of having the condition (and a three-in-four chance of not having it).