🧬 We’re getting scientific today, Privates! 🧬
November is Lung, Pancreatic, and Stomach Cancer Awareness Month — and last month was Breast Cancer Awareness Month — so we had genetic counselor Dena "DNA" Goldberg on to teach us all about the incredible options and benefits of genetic counseling for all kinds of diseases, including cancer. And if you, like us, didn't realize that this life-altering medical advancement was accessible, SURPRISE! Dena is here to give us the skinny on what genetic counseling is and how you can use it to take control of your health.
So, what IS genetic counseling?
A genetic counselor analyzes patients' family history for genetic conditions, calculates their risk for certain diseases, and helps them decide what potential treatment options are right for them. GC's are able to take more time with each patient, answering questions about the logistics and technicalities of testing, as well as exploring potential emotional responses. They are there for you medically and emotionally. (Geez, GC's sound pretty attractive! 😉 )
After our episode, we wanted to know even more about genetic counseling. So, we asked Dena to answer some more in-depth, burning questions about this fascinating field of science. This is a must-read if you're curious about how your genes and family medical history can play a MAJOR part in your future.
How is genetic counseling different from other genetic tests, like 23andme and HER2/neu testing?
DENA: Genetic counseling is the conversation, information collection, and risk discussion that happens before and/or after genetic testing. They are separate and do not always happen together. Any testing without genetic counseling is going to be less personalized to the individual. Any genetic counseling without testing will focus more on other factors when discussing risk.
In terms of at-home tests like 23andMe, most of these tests use a different technology than a medical test. They use a method called SNP testing, which looks at a few very specific bookmarks along random genes. This technology is great for ancestry testing but doesn't tell us about the function of a gene, which is necessary when determining health risks. Medical genetic testing uses sequencing technology which means reading through every letter of the genes associated with the condition in question. SNP testing will miss many important genetic changes that affect the function of the gene. For more information, I have a great YouTube explainer:
HER2 is not a genetic test at all but a hormone receptor test. This testing can be done on breast tumor tissue to determine if certain hormone receptors (i.e.: estrogen receptors [ER] and/or progesterone receptors [PR]) are present and whether the tumor tissues depend on those hormones to grow. This information helps in making a treatment plan for that tumor and can give the oncologist a better idea of how aggressive the tumor may be.
On the pod, you shared an example of an inspiring way genetic counseling helped one woman believe in her future enough to start a family and plan for the future. Have you had other experiences like that where the benefits of genetic counseling surprised patients?
DENA: Yes, anytime a patient believes their risk is higher or lower than it actually is, going through this process causes them to make changes to their future. It is common when someone has had a parent pass away early as they often assume they will undergo the same fate without fully realizing it. This is precisely why the genetic counseling discussion is so important. It is more than just testing but also facing these deeply held beliefs about one's self.
I would often see physicians as patients in my old role. After seeing them, I would always receive new referrals for their patients to undergo the same process. This showed that they realized the value of genetic counseling only after going through it themselves.
If I've already had breast cancer, will genetic testing help predict my risk of recurrence? And how does being a breast cancer survivor affect one's risk factor for other diseases — is there anything new I should be testing for?
DENA: Yes, it absolutely can help predict breast cancer recurrence risk. Not only that, but it can also help determine if there are other cancers or conditions to look out for. In addition, this testing helps determine who else in the family may have the same risks and what type of screening they should be undergoing. It is a gift to the rest of the family to give them this insight and the ability to prevent any further cancers.
Many people with breast cancer were only tested for BRCA1 and BRCA2, but there are a handful of other very important genes. The National Comprehensive Cancer Network (NCCN) guidelines recommend anyone with breast cancer be offered a panel of genes, not just BRCA. A panel is a bundle of cancer genes that get tested all at once instead of one by one. The cost of any panel is the same as just doing BRCA, and if you have had breast cancer, you can most likely get panel testing covered by insurance or special programs. Regardless, the out-of-pocket cost should never be more than $250.
November is Lung, Pancreatic, and Stomach Cancer Awareness Month. What are the currently available genetic testing options for these diseases? Is there anything specific to these types of cancer that people should be aware of from a GC perspective?
DENA: Lung cancer is one of the cancers least likely to be hereditary. Most lung cancers are caused by smoking or other environmental factors. There are some rare exceptions, so if you have a strong family history of early lung cancer or lung cancer in nonsmokers, I recommend talking to a cancer genetic counselor.
About one in 10 Pancreatic cancers are hereditary, so ANYONE with pancreatic cancer at any age should be offered genetic testing. In this case, testing may change the treatment to something more personalized, which has been shown to improve outcomes. There are a handful of genes associated with pancreatic cancer, so a panel test should be offered. If you have a close relative who had pancreatic cancer and was not offered genetic testing, make sure they get it. If they have passed away, their close relatives should all undergo testing. There are many programs to get this testing covered like this one.
If they are not ready to test, you can also have them bank DNA which means holding the DNA for future use. In addition, if you have a personal or family history of chronic pancreatitis, make sure you ask for pancreatitis genes to be included on the panel.
Stomach, or gastric cancer, can also be hereditary, although it is more often associated with environmental and dietary factors. The most common cause is a bacteria called Helicobacter pylori (h. Pylori) which is common in countries or communities that lack clean water or good sewage systems. If you have h. Pylori, it can be treated with antibiotics. The two most common hereditary cancer syndromes that involve gastric cancer are Hereditary Diffuse Gastric Cancer (also associated with breast cancer) and Lynch syndrome.
For all of these, if you are curious about your risk, find a cancer genetic counselor to talk to.
Anything else you’d like to add?
DENA: If you'd like to see a cancer genetic counselor to discuss your risk, I recommend asking your primary care doctor to refer you to one. Some names can be found at findageneticcounselor.com. If you cannot find one near you, I recommend using a telemedicine service like Genome Medical. If you'd like to speak with me, send me an email at Dena@DenaDNA.com, and I will send you instructions.
🎗️Dena makes awesome GC-related content on her social media to bring awareness to the field. Follow Dena and listen to her episode OUT NOW! 🎗️
P.S. Here are some resources so you can start genetic counseling and learn about your genes asap!