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Navigating Breast Cancer with Genetic Counseling and Testing

Jen Hatajik always knew she had a risk of developing breast cancer. Jen was 25 when her own mother died 2 years after being diagnosed with breast cancer.

Her gynecologist suggested genetic testing, but the young mother instead relied on self-examinations and regular mammograms. “I guess I was afraid,” says Jen, senior human resource consultant at UPMC Altoona.

Last year, the Duncansville resident found a lump in her breast. She was referred to breast surgeon Dianna Craig, MD, at Magee-Womens Specialty Center at UPMC Altoona and learned she had metastatic breast cancer, which had spread to her lymph nodes.

This time, Jen didn’t hesitate when Dr. Craig recommended genetic counseling and testing to determine the best treatment.

“I had to do it. I wanted to know why I got cancer and how to treat it,” says Jen, 41, a mother of 3. “I needed to know if my children were at risk.

The Magee-Womens Specialty Center offers Blair County’s first comprehensive breast health service, giving women a female-centered and enhanced patient care experience. And, telehealth visits for reproductive endocrinology and breast cancer genetics allow area patients access to high-level specialty services in Pittsburgh, without as much travel. Explore more reasons to choose UPMC Altoona at UPMCAltoona.org/Reasons.

Counseling via Videoconferencing

There are no genetic counselors in the Altoona area. Instead, Jen went to the UPMC Teleconsult Center at Station Medical Center for an online face-to-face meeting with a specialist at Magee-Womens Hospital of UPMC. Her father flew in from Florida to help answer questions.

“It was great. We met with the genetic counselor via videoconferencing and went through my entire family history,” says Jen.

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“Being able to talk to an expert face-to-face is important. We could see her and she could see us — and we didn’t have to drive to Pittsburgh for that expertise.”

Also in the room was Cheryl Litzinger, RN, BSN, UPMC Altoona’s oncology nurse navigator. She assists women with the necessary questionnaires and paperwork, and arranges their meeting with the genetic counselor.

“It’s important for patients to talk to the genetic counselor, go over their risk assessment, and discuss options for genetic testing and cancer risk reduction,” says Cheryl. “That information helps patients and doctors determine the next step.”

RELATED: Are Ovarian and Cervical Cancers Treatable?

An Informed Decision

Within a few weeks, Jen had the answers she needed: She tested positive for a BRCA 2 mutation passed down from her mother. “There was no longer any question — I was absolutely having both breasts removed,” she says. “It was a relief to know why it happened and what needed to be done.”

Ultimately, Jen underwent a bilateral mastectomy. Because she was also diagnosed as HER2 positive, which means her cancer feeds off estrogen, she had a total hysterectomy to prevent ovarian cancer.

Now cancer free, Jen continues to monitor her skin, eyes, and breast area for cancers that may develop. She has shared her information with other family members, including her children, who have a 50 percent chance of inheriting the mutation.

And she’s talked frankly with her daughter, who is 12. “Knowledge is power. She has the power to control this,” says Jen.


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