MATTOON-- Paul and Evelyn Weber of Mattoon are both cancer survivors. They know first-hand that the best treatment plan for each case is imperative for survival of the disease.
As a former nurse who was diagnosed in 2002 with breast cancer, Mrs. Weber said when her husband was found to have acute myeloid leukemia in 2006, she thought, "not again."
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She said in comparison, his treatment was far more intense than hers. At one point, his immune system was "pretty much gone."
"It (the cancer) was a really scary experience. I really thought I was going to lose him. Now, I call him my miracle man," said Mrs. Weber, 55.
But, during the ordeal, the Weber's learned about a groundbreaking scientific study, which ultimately could help identify genetic errors that underlie a patient's cancer.
Paul Weber was only the second person in the world to participate in this "genome sequencing," at the Washington University in St. Louis.
"We believed that anything that can help another person is going to be worth it," said Mrs. Weber.
Paul Weber was 38 when doctors at Sarah Bush Lincoln Health Center in Mattoon diagnosed the AML.
Weber underwent intense chemotherapy at the Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine in St. Louis, during the first week, and less intense treatments there during the next several months.
Weber, now 45, also participated in the study, in what is a truly "personalized medicine" research project, at Washington University, which involved decoding the DNA of his cancer cells.
His medical case also landed a place in the New England Journal of Medicine, which was published in Sept. 10, 2009.
"By comparing the DNA in the cancer cells to the DNA in healthy cells, from the same patient, researchers at Washington University's Genome Institute can identify the specific mutations that likely contribute to a patient's cancer," said Caroline Arbanas, director of Medical Research News at Washington University School of Medicine, St. Louis.
Researchers had begun a project to decode the DNA of cancer patient's tumor cells. The research provided doctors with information about why, from a genetic standpoint, Weber developed cancer in the first place, and whether the mutations in his cancer cells could predict his prognosis.
Just 10 years ago, this wasn't possible.
By identifying the mutations that cause AML in different patients, researchers think it may one day be possible to determine which patients need aggressive treatment right away, such as a stem cell transplant, and which can be effectively treated with less aggressive treatments.
"It was a voluntary study that took place over a course of several months. Being diagnosed with an acute form of leukemia, meant it's normally a faster growing form of cancer. A small piece of skin was taken from my back for the research. I remember it being taken at least twice," said Paul Weber.
The first patient in the study was a woman in her 60s with AML, but she died before the sequencing of her genome and that of her cancer cells was completed.
Dr. Peter Westervelt, M.D., PhD, is the director of bone marrow transplantation and leukemia section at the Siteman Cancer Center at Washington University School of Medicine and Barnes-Jewish Hospital, where he is also the principal investigator of the genome sequencing study for patients with AML. Dr. Amanda Cashen, M.D. was Paul Weber's oncologist.
Weber learned that the mutations in his cancer cells are associated with a "very good prognosis" and that the cancer he was diagnosed with is not likely to return, said Arbanas.
She cited statistics from the American Cancer Society that shows 80 percent of the patients with AML die within five years of diagnosis.
While the process is very scientific, Westervelt described the process like this:
"We take a DNA sample from a patient's healthy cells and a DNA sample of the same patient's tumor cells and run both through a DNA sequencing machine. We use specialized software and other tools to determine whether discrepancies in the DNA sequences between the two samples are due to normal variations in the DNA or to mutations that affect cancer growth and progression," Westervelt said.
It is important to get the DNA from a tumor early on, before treatment begins, which could cause further damage to the tumor DNA. The genome is the complete DNA sequence of a person, or in the case of cancer, of a tumor. The DNA of healthy cells taken from a skin sample is compared to the DNA of the cancer cells.
"Washington University was the first institution to use whole-genome sequencing to study cancer, and Paul (Weber) happened to be at the right place at the right time, and he had a cancer subtype that we had decided to focus on learning more about," said Westervelt.
The main purpose of the genome sequencing is to understand the genetic basis of cancer, so that eventually doctors could make decisions about treatments based on the individual genetic profile of a patient's tumor.
"One day, we think it could be possible for doctors to use the results genome sequencing to help select the best treatment options for their cancer patients. But first, through research, we need to show that it is possible to correlate the mutations in a patient's tumor with response to treatment," Westervelt explained.
But, for Paul Weber, the research has been important.
"His genome was chosen for sequencing because his tumor had typical clinical and molecular features of AML, and it was thought we could learn more about the genetic basis of leukemia by identifying the mutations in his tumor cells. We also wanted to find out whether any mutations in his genome could predict his response to treatment and his good outcome," said Westervelt.
In the beginning, the process was "slow and laborious," but today due to advanced technology, the process gets results in several weeks.
He added that any type of cancerous tumor using DNA sequencing can be studied, but it can be a bit more difficult to get a pure DNA specimen from a solid tumor, like that in the breast, lung or colon, compared to blood cancers like leukemia.
Weber credited the researchers and physicians who worked his case.
"It's pretty awesome knowing I'm only the second person in the history of mankind to have this study done. That's not bad for a mid-western, small town guy," said Weber.
Weber works at Eastern Illinois University and is active in the local Christian Motorcycle Association chapter and is interested in missions work.