Photo Gallery | Breast Cancer Awareness | ‘Busy’ target: Windber Center stresses need for preventive genetic testing | breast cancer

WINDBER, PA — Kimberly Knapp estimates that the Joyce Mortha Breast Care Center conducts 20 genetic tests per month for people looking to detect risk markers for hereditary cancers, including breast cancer.

Knapp, director of the center’s clinical research site, said she’d like to see that number triple.

She said that due to current developments in genetic testing, the tests could be used to prevent many cancers from forming, when paired with diligent routine testing.

The problem, Knapp added, is getting the general public to understand that the test is not only available locally – but that it is always covered by medical insurance.

“I should be busier[taking the tests],” she said, “because I know there’s a need for it, but not enough people are learning about it.” “

She said, “Genetics is a turning point in medicine.”

family history lists

For Windber, this type of testing started in 2008.

It started as a method used to detect genetic mutations called BRCA1 and BRCA2, Knapp said.

Over the past 10 years, this test has expanded to include partnerships with laboratories that search for nine different breast cancer genes and 84 flag-type warning mutations for a list of other cancers — including colon, stomach, uterine and ovarian types.

Knapp said family history and personal health play a big role in whether genetic testing is appropriate.

But for those who want to know, this is where education and discussions with primary care physicians or gynecologists are helpful, she said.

“We’re trying to educate more doctors and medical providers to create family history lists… for cancers,” she said.

“Because the earlier you are screened, the better your chances of protecting yourself,” she said.

“The whole premise is that cancer screening is done before cancer is diagnosed.”

“Preventive checks”

She said breast MRIs are now available for people under the age of 25 — although women rarely have one. For women who undergo these preventive examinations annually along with annual mammograms at different points in the year, the chances of the cancer developing to an advanced point can almost be eliminated.

This is critical for slow-growing types such as colon cancer, she said.

Not only can the test save your life, Knapp said, it enables your children to take action to be proactive as well.

Often, people don’t get genetic testing until after they’ve had cancer.

Knapp estimated that 60% of the people it tested fit this bill.

Not only can early detection of the genetic mutation enable someone to get regular checkups to find out the situation sooner, but it can also avoid the trauma of relatives who end up trying to deal with two investigations at once.

“All of a sudden, not only does their dad or dad get cancer, the risk is very real that they will get the same thing,” she said.

“That’s a lot for anyone to deal with, and with preventative checks, this kind of situation can be avoided.”

Knapp said she has seen cases where local parents did not know they carried the genes to an aggressive killer cancer until they died from it.

Now, at-risk children and grandchildren are also being screened – in some cases years after they started their routine checkups.

She said adults of almost any age can better prepare themselves by taking the test.

The first step is to look at their immediate family and, separately, “second-order” families, which include aunts, grandparents, and cousins, to consider the types of cancers they’ve had and how young and old they are.

“Maybe one sister had breast cancer, another had ovaries and another brother had pancreas, all with the same syndrome,” Knapp said.

“They all have the same mutation.”

‘Say the word’

Tracey Eikenrod, a registered nurse at Joyce Mortha Breast Care Center, joined the facility a year ago after spending much of her career teaching and working in a family clinic.

She said she wished she had known about the developments — and the benefits — of genetic testing earlier.

“We didn’t think about asking[patients]about those warning signs,” Eckenrod said.

“And I think a lot of doctors still don’t.”

She added that this is understandable.

Family physicians often have 15 minutes to focus on the patient’s health concerns front and center and common issues such as high cholesterol, high blood pressure, and diabetes.

“That’s why we have to get the word out to them — educate our caregivers,” Eckenrod said.

“Because this test can be used to help people in many different ways.”

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