Genetic tests let patients be proactive
Joan Swarts recently learned she has a greater risk of developing colon, ovarian and breast cancer.
Genetic testing counselors at Ohiohealth were able to discover all of this information after taking a blood sample from her back in February.
Now, Swarts, 55, of Delaware, is being proactive. She recently met with a colorectal surgeon and knows to increase the frequency of her colon screenings.
“I’m glad that I now know that’s a potential and I can take steps to watch
for that to catch it early,” she said.
Genetic testing recognizes changes in chromosomes, genes or proteins. The results can help confirm or dismiss a suspected genetic condition; help determine a person’s chance of developing a genetic condition; and show the likelihood of passing on a genetic disorder, according to the National Library of Medicine.
“What we hope is that the genetic testing information is going to give us a very personalized plan for what that person needs to do based on their genetic testing results and based on their family history,” said Amy Sturm, a cardiovascular genetics expert for the National Society of Genetic Counselors.
Test results come back either positive (meaning the test found a genetic change known to cause disease), negative (meaning the test did not find a genetic change known to cause disease), or uncertain (meaning there isn’t enough information about the genetic change to figure out if it’s normal or could cause a disease), according to the Centers for Disease Control and Prevention.
The results can answer questions like, “Are there things that I can do that will enable me to not develop this disease? Or that can basically modify my risk or things that I can do to prepare myself for what might come in the future because I have this genetic condition?” said Nichole Morman, genetic counseling manager at Ohiohealth.
The number of licensed genetic counselors in Ohio has been on the rise. There were 221 in 2016 and 423 in June of this year, according to the state medical board annual report.
People do genetic testing for a variety of reasons. Some might wonder whether they are predisposed to a genetic condition if they have a family history. Or a person might want to know why they were diagnosed with a specific condition. They might also question whether they could pass on a genetic condition to a child.
Breast cancer runs in Swarts’ family. Her grandmother died from breast cancer when she was 65, so Swarts’ breast health doctor urged her to do genetic testing.
“(The genetic testing) was really informative,” Swarts said. “I felt like I was inundated with a lot of information but everything has been explained really well to me as far as preventive things I need to do.”
Erin Pettegrew, 46, did genetic testing a couple of years ago after her mom was diagnosed with ovarian cancer seven years ago.
The Hilliard resident had the tests through the Making Genetic Testing Accessible (Magenta) study, an at-home screening for 19 genetic abnormalities launched out of the University of Texas MD Anderson Cancer Center.
She saw an ad for Magenta pop up on her Facebook and sent in her cheek swab after getting the kit. She got her results back a few weeks later saying she didn’t have a genetic predisposition to ovarian cancer.
“My heart was pounding as I opened the email for sure, but once I saw that it was negative it was a big relief,” Pettegrew said. “If it had been positive, I would have had to make some choices about maybe having my ovaries removed early in life and other considerations about my own health, but I didn’t have to go down that path.”
There is a psychological aspect to finding out whether you’re predisposed to a genetic condition, Morman noted.
“How is that going to make me feel about myself? How is it going to impact my relationships with my family members?” Morman said.
Swarts’s mind is more at ease knowing she has the potential for these diseases and she takes comfort knowing it can be caught early.
“Honestly, I’m one of those people who thought I really don’t want to know so I was nervous about doing it, but I’m glad I did so I can take the necessary measures to look for this stuff,” Swarts said.
Direct-to-consumer testing like 23andme is also an option, but the results can be limited.
“If you are interested in doing genetic testing because of a family health history of a certain disease, we do not recommend doing a 23andme test, rather you should speak to your health-care provider,” Aushawna Collins, 23andme spokesperson, said in an email.
Genetic testing is continuing to evolve and whole-genome sequencing for newborns could be on the horizon.
“A baby is born and you want to know for that baby’s entire life what might they be at risk for,” Sturm said. “I think really getting that full genome sequencing at a very young age and then using it as a resource throughout their life is something we really are striving toward in our field.” mhenry@dispatch.com @megankhenry