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Genomic testing and precision medicine

image of genomic tumor board discussing treatment options

The human genome is our full set of DNA — the building blocks of our cells. Doctors know that cancer results from changes to DNA. These changes develop for several reasons, from environmental exposures to heredity (the genes you’re born with).

Cancer genomics compares the DNA of cancer cells to that of healthy cells. The results can reveal the genetic cause of tumor growth — and help doctors identify and deliver the most effective treatment. This process is called precision medicine.

The Food and Drug Administration (FDA) already approved some precision medicine treatments. Others are still in development: Doctors study these treatments in clinical trials, which carefully supervise tests of new therapies.

The AHN Cancer Institute uses genomic testing to offer advanced diagnostic options. Our oncologists (cancer specialists) screen for 400 to 600 genetic mutations in tumors. Then we consult with experts from the Johns Hopkins Kimmel Cancer Center to develop a care plan based on our findings.

Genetic analysis: Revealing new options for tough cases

Genomic testing offered hope for Anita Merlino, of Shaler, Pennsylvania. In March 2017, Anita learned that she had a rare and hard-to-treat type of cancer called cholangiocarcinoma, or bile duct cancer.

Cholangiocarcinoma forms a tumor in the tiny tubes (bile ducts) that carry the digestive fluid known as bile. The bile ducts connect your liver to your gallbladder and your small intestine. Cholangiocarcinoma has a discouraging prognosis: Only 15 percent of people with bile duct cancer that starts within the liver survive five years after diagnosis.

Cancer is never welcome. For Anita, the timing was especially terrible. Anita was just 59 years old. She’d lost her husband — and her children’s father — 14 years before. Now, her daughter was planning her wedding for September 2017. Anita wasn’t sure if she would survive the six months until her daughter’s wedding.

GAITWAY: A path to diagnosis and treatment

Anita’s case came before the AHN and Johns Hopkins team known as GAITWAY, which stands for Genetic Alteration in Tumors with Actionable Yields. Meeting in a session called a tumor board, more than a dozen of the brightest minds in cancer consult together.

GAITWAY reviews cancer gene sequencing reports to find “actionable targets.” This term describes gene changes that doctors can attack with an available, FDA-approved drug — or a clinical trial.

“Genetic sequencing of cancers has become standard of care for patients with advanced or rare tumors. While many centers utilize this testing, few have regular molecular tumor boards like GAITWAY and fewer still are able to utilize the expertise of Johns Hopkins to assist in real-time clinical decisions,” explained Gene Finley, MD, AHN Cancer Institute medical oncologist and a member of GAITWAY. “GAITWAY has become a national model for how to navigate modern gene sequencing technology and integrate it into precision cancer medicine.”

Clinical trial offers hope

Anita’s medical team assessed all treatment options, including AHN and Johns Hopkins Medicine clinical trials. Based on her tumor’s driver mutation identified through genomic testing, the team recommended that Anita participate in a clinical trial in Buffalo, New York. This was the first treatment in a line of several different treatments that were worked out by the AHN Cancer Institute team to give Anita the best chance to control the tumor and extend her life with the least possible side effects.

Treatment wasn’t easy. From May through November 2017, Anita traveled to Buffalo every Monday for the trial medication. But it paid off: At her first scan, the tumor had shrunk by 30 percent.

Later, unfortunately, side effects forced Anita’s doctors to decrease the treatment dosage. Eventually, she had to leave the trial. Still, her outcome has been positive. Today she’s on the standard-of-care chemotherapy, and her most recent scan showed that her condition was stable. A tumor on her femur has disappeared.

“I feel good. People tell me I look good,” Anita said. “I’m in no pain to speak of. Considering what my original diagnosis was, 16 months ago, I thought I’d be dead by now.”

Caring team offers new therapeutic pathways

Anita raves about her “wonderful” team at AHN, including Christie Hilton, DO, medical oncologist, and Gurleen Pasricha, MD, medical oncology fellow. “I just love them. They are so personable and really do take care of me,” she said. “I’ve never had a doctor like I’ve had during this time. Everyone is so kind and explains everything to me. I’ve always felt like they have my best interest at heart.”

In fact, Anita feels so close to her team that she invited Dr. Pasricha to join her family when Anita reached a major milestone — attending her daughter’s wedding last September. What’s more, she has hope for her future.

“I know they talk about my case at the tumor board, and that they are always perfecting new techniques,” Anita said. “I feel like at this point if something doesn’t work, they will have something else that could work down the road.”

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Request an appointment with one of our experts or get more information about the Allegheny Health Network Cancer Institute.

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