The story your genes can tell

Looking at your DNA can improve healthcare outcomes for you, your family and people around the world.

Having information from genetic testing and analysis can help you avoid disease or help your doctor find it earlier. And if you’ve been diagnosed with a particular disease, your doctor can use this data to decide a course of treatment that’s right for you.

How does genetic testing work? Through a small sample of blood or saliva, the test looks for changes (variants) in your genes. These mutations raise your risk of developing specific health conditions, like certain types of cancer and heart conditions. Simply having a gene mutation doesn’t necessarily mean you’ll get the illness — just that you’re at higher risk for it.

Genetic counselors guide your journey

If you have a genetic variant identified, you’ll likely meet with a genetic counselor. These healthcare professionals have specific training in genetics, and can tell you about your gene change and its associated risks.

Genetic counselors also offer:

• Medical management recommendations
• Advice on your next steps
• Information and education for your at-risk family members
• Psychosocial support
• Guidance on resources, such as mental health and patient advocacy programs

Alyson Evans, a Geisinger genetic counselor, is grateful to be part of her patients’ care. “It’s very rewarding to be able to provide education, guidance and support for patients and their families at the times they need it most — and empower them to make the best decisions for themselves and their health,” she says.

One woman’s story

Kathy Lahr of Milton, Pa., planned to have a lumpectomy and radiation when a routine mammogram found a small lump in her breast. However, a presurgical MRI showed a second tumor. Because her family has a genetic predisposition for breast cancer, Ms. Lahr opted for genetic testing.

She learned she has a disease-causing variant in the BRCA2 gene, which significantly increases the risk for breast and ovarian cancer. Armed with this information, she decided to undergo a double mastectomy instead of a lumpectomy.

But Ms. Lahr’s journey didn’t end there. Because the BRCA2 variant increases the likelihood of ovarian cancer to about 20% (compared with less than 2% in the general population), she opted for a partial hysterectomy to take ovarian cancer out of the equation. “Now I know that I am more susceptible to other cancers…(because) I came back positive for BRCA2,” she says.

During her partial hysterectomy, cancer was found in one ovary and a fallopian tube. She was referred to Scott C. Purinton, MD, PhD, chief of gynecologic oncology at Geisinger Medical Center.

As Dr. Purinton explains, “Genetic testing is recommended when ovarian cancer is present, regardless of the patient’s age.” Because Ms. Lahr, at age 71, had already had the genetic testing done, he knew she was predisposed to several types of cancers. If she hadn’t been tested, the ovarian cancer might not have been discovered until a later stage — when the prognosis could have been much worse.

Because of her BRCA2 variation and incidentally found ovarian cancer, she had multiple surgeries and six cycles of chemotherapy. She’s now cancer free.

Besides her husband and family, Ms. Lahr credits her care team with getting her through the treatment. “You feel like you’re really a person they care about. They’re committed to helping you in any way possible to get through it and hopefully have a good outcome,” she says. And the comforting hug from Dr. Purinton, she adds, was just what she needed when facing more surgery and chemo treatments.

Dr. Purinton’s motto: “I treat every single patient like family. If this patient was my wife, what treatment would I recommend?” Compassion and kindness, he says, are important aspects of treatment when someone is facing a life-threatening illness.

Many people’s stories would stop there. But Ms. Lahr’s faith and generosity of spirit moved her to reach out to others diagnosed with cancer to do what she can to help them and let them know they aren’t alone. She’s an avid proponent of genetic testing and cancer screenings, especially mammograms.

Why have genetic testing?

Dr. Purinton credits genetic testing for providing valuable information when deciding on a course of treatment. “Earlier diagnosis leads to a better prognosis,” he maintains. In Ms. Lahr’s case, she opted for prophylactic (preventive) surgery, which led to better outcomes.

Encouraging family members to undergo testing is key, too, says Dr. Purinton. If they carry the same genetic variant, knowing it is the first step in choosing what to do. After Ms. Lahr urged her family members to have genetic testing, her son and sister found they also had the BRCA2 variant. “The more you know about your health and your family’s health, the richer you’re going to be for it,” she says.