"It was bittersweet learning about the genetic mutations, but we now have more of a reason to get in gear, take care of business and take care of our health."
Knowing your family tree is more than discovering who came before you and understanding the events that shaped the past. It can also help you prevent cancer and save your life. Sisters Sandra Feldhahn and Susan Calandri, both of Fenton, recently learned how their family’s medical history plays a huge role in their overall health. If it was not for the proactive health care Feldhahn received at the Karmanos Cancer Institute at McLaren Flint, these sisters would not have even thought about genetic testing.
“I was diagnosed with endometrial cancer (uterine cancer) in 2018, after a routine pap smear. I had a total hysterectomy. My initial thought was that it would be one-and-done, and I wouldn’t have to worry about it anymore,” explained 56-year-old Feldhahn. She was 52 at the time of her hysterectomy. “But my doctor tested the cancer after it was removed and cancer treatment was recommended.”
“After going through six rounds of chemotherapy and radiation therapy, I was at a follow-up appointment in Flint. It was suggested that I take a genetic test, due to my father’s history with cancer.”
Feldhahn’s gynecologic oncologist at the cancer center in Flint ordered the genetic test during her appointment. The test, which focused on inherited breast cancer genes, came back positive for a mutation in her ATM gene, a gene primarily associated with an increased risk of breast cancer.
She was then referred to the Cancer Genetic Counseling Service at the Karmanos Cancer Institute to discuss the implication of the results for herself and her family. During further discussion of Feldhahn’s personal uterine cancer history and family history with genetic counselor Ashley Cosenza, MS, additional testing was recommended for other hereditary cancer conditions, including Lynch syndrome, the most common hereditary colon and endometrial cancer syndrome.
“Those diagnostics came back positive for Lynch syndrome, so then we got my sister into the conversation,” Feldhahn said.
Both ATM mutations and Lynch syndrome are hereditary cancer conditions that are inherited in an autosomal dominant fashion. This means that each of Feldhahn’s siblings have a 50% chance of having inherited either condition and face an increased risk for certain cancers.
Lynch syndrome is also formerly known as hereditary non-polyposis colorectal cancer (HNPCC). According to the American Society of Clinical Oncology, people who have Lynch syndrome have a higher risk of developing several types of cancer, compared to people who do not have Lynch syndrome. People who do have Lynch syndrome have a higher risk of developing:
In addition, the Centers for Disease Control and Prevention states that Lynch syndrome also increases the risk for brain and some skin cancers. Patients with Lynch syndrome are also at a higher risk for developing these cancers at a younger age.
As a genetic counselor, Cosenza works with patients to understand how their personal and family history of cancer impacts their cancer risks. It is important for her to understand exactly who may have had cancer and the type of cancer they had. This information helps genetic counselors recommend different types of tests. In Feldhahn’s case, her personal history of cancer combined with her father’s history was telling to Cosenza, prompting her to recommend additional testing that included Lynch syndrome.
“Our father had several cancers related to Lynch syndrome, including colon cancer and bladder cancer – and I had uterine cancer,” said Feldhahn.
“Dad was a farmer. He was exposed to so many chemicals and toxins in his environment. Honestly, we kind of credited his cancer to that,” said 67-year-old Calandri. “He passed in March of 2021 at 92 years old – cancer wasn’t something that really controlled his life. We didn’t really connect it to genetics.
“With Lynch syndrome there’s a 50% chance of other siblings having the syndrome, as well. So, I was definitely interested in knowing after Sandra’s results.”
How Genetic Testing Works at Karmanos
The genetic counselors at Karmanos try to make the process of genetic counseling and testing as straightforward and efficient as possible for patients. Travel to one of the Karmanos facilities is not needed; appointments are offered via telehealth and can be completed within 30-45 minutes.
During the appointment, the genetic counselor reviews the patient’s personal and family history information to determine whether genetic testing is appropriate, provides information about hereditary cancers and walks patients through the process of genetic testing, insurance coverage, and the implications of testing for the patient and their family.
Karmanos genetic counselors order the test and request that the outside testing laboratory send patients testing kits by mail; patients follow the enclosed instructions and send the testing sample back to the lab with the provided label.
Once testing is ordered, the lab verifies the patient’s insurance, determines the out-of-pocket cost for testing, and notifies the patient prior to performing the test. When testing is complete, the genetic counselor reviews and discusses the implications of the results with the patient over the phone.
“It was seamless. Once I said I was interested, they emailed the forms and sent out the testing kit. Once they received it, they communicated where they were in the process of testing my sample,” said Calandri. “After about three weeks, Ashley called me back and said she had the results. It was really simple and was not time consuming.
“It’s kind of a bittersweet experience to have the genetic testing done,” continued Calandri. “You think beforehand, ‘Oh I want to know.’ I thought it was going to be a piece of cake until it came back positive for the Lynch syndrome. That kind of changed our attitudes, but it was Sandy’s diagnosis, initially.”
Finding out about the Lynch syndrome, the sisters are now having to make some lifestyle changes. They were already following their physicians’ orders on the types of cancer screenings they should be receiving and when, but after genetic testing, prevention takes on a whole new meaning.
“I am recommended to have a colonoscopy every year, now because of my father’s situation. I was on the 10-year plan before I found out about the Lynch syndrome. I also have to have a mammogram and a breast MRI every six months, due to the ATM gene,” explained Feldhahn. On top of this, after treatment for endometrial cancer, Feldhahn must see a gynecologic oncologist every six months for five years following her survivorship.
“There’s definitely lifestyle changes to be made, along with the different screenings that are going to have to happen,” said Calandri. “Weight loss, diet, exercise – it’s all going to have to figure into the picture. I don’t want my last years to be a medical journey. I have been very healthy, and I want to keep it that way. I want to enjoy the last session of my life – “
“25 years, let’s say,” interrupted Feldhahn.
“Yes, 25 years. I want to do the best I can.”
“Like Susan said, it was bittersweet learning about the genetic mutations, but we now have more of a reason to get in gear, take care of business and take care of our health,” Feldhahn said.
The sisters say they really wanted to go through with genetic testing to also make their family aware. One of their brothers passed away not related to cancer, but they have another brother, nieces, nephews, kids, and grandchildren who they will be recommending to Karmanos for testing.
“For me, it’s letting my kids and my grandchildren know that it’s a possibility and that they should consider it – I want them to have the tools to circumvent cancers if they can,” said Calandri.
If Feldhahn did not receive the recommendation from the gynecologic oncology team in Flint to get tested, these siblings might have not known that they inherited Lynch syndrome.
“I wouldn’t have done it. I would not have ever considered it,” said Calandri.
“Me neither. Why?” added Feldhahn. “We’ve been healthy up until my cancer diagnosis.”
Consider genetic counseling if you have:
- Several relatives with the same or related cancers (i.e., multiple relatives with breast cancer, or colon and uterine cancers on the same side of the family)
- A personal or family history of a rare or unusual cancer, such as male breast cancer, ovarian cancer, or pancreatic cancer
- A relative with more than one type of cancer
- A personal or family history of cancer under the age of 50
Though genetic testing does not require a physician referral, some insurance companies may require that you are referred by a provider. Most insurance companies cover part, if not all, of genetic testing. Should you be recommended to receive a genetic test, the outside testing laboratory will submit the claim to your insurance company and notify you of any out-of-pocket expense.
For more information about genetic testing and counseling through the Karmanos Cancer Institute at McLaren Flint, call the oncology nurse navigator at (810) 342-4848. In addition, Karmanos offers genetic counseling and testing through various other sites within the McLaren network. To find a location near you, visit karmanos.org/genetics.