The day began with a talk by The Genome Institute’s co-director, Dr. Elaine Mardis. She outlined the basics of DNA sequencing and gave an overview of the institute’s most advanced cancer genomics work in both breast cancer and Acute Myeloid Leukemia (AML). She described the discoveries of key mutations in both of these forms of cancer using whole genome sequencing.
“I’d like to think this work is going to change the way clinicians approach cancer,” said Dr. Mardis, adding: “I believe cancer patients will be the first to benefit from genome-guided medicine.”
Next up was Dr. Matthew Ellis, a Genome Institute collaborator and professor of medicine at Washington University School of Medicine. He spoke about the application of whole genome sequencing in both the diagnosis and treatment of breast cancer in clinical trials. “Whole genome sequencing experiments are the ultimate starting point for personalized oncology,” he said.
In one particular trial known as Z1031, Dr. Ellis described how he and colleagues have been examining the response of women with estrogen-receptor (ER)-positive breast cancer – the most common form of breast cancer – to a class of chemotherapy drugs called aromatase inhibitors. Looking at the tumor and normal genomes of these women before and after treatment, they are trying to predict how a given patient will respond to these drugs. Thanks to this trial, half of the participating women who were supposed to get a mastectomy didn’t have to. Dr. Ellis noted that this is “the most impressive result since the early days of chemotherapy.”
The next part of the program involved The Genome Institute’s Outreach Director, Dr. Cherilynn Shadding. Dr. Shadding explained how DNA molecules replicate and how we make use of this process to amplify DNA for study using a technique called the Polymerase Chain Reaction (PCR). With the help of a paper-based PCR model kit, the group re-created a life-size version of the PCR process to better understand its use in scientific research.
Dr. Shadding also led the group in lab activities that included extracting DNA from strawberries and separating sample DNA by size using a lab system called an electrophoresis gel.
At lunch, Bettye Green, a registered nursed and the Community Outreach Coordinator and Chair of the Institutional Review Board (IRB) of the Northern Indiana Cancer Research Consortium and of St. Joseph Regional Medical Center in Mishawaka, Indiana, spoke about her experiences in breast cancer advocacy. Diagnosed with breast cancer in1988, she wasn’t expected to live. She has clearly defeated the odds and has since participated in a number of breast cancer advocacy activities and sat on many boards to spread knowledge about the disease and its treatment. “As advocates, I really believe that we have changed the face of cancer,” she said. She added that over time doctors have become far more accepting of what the advocacy groups are doing and that many now seek out advocates’ opinions when planning their research and trials.
The last session of the day was led by The Genome Institute’s group leader for sequence production, Ms. Lucinda Fulton. Ms. Fulton outlined the consent process patients go through when taking part in clinical trials. She expanded on a theme that was prevalent in all the talks – the ethical considerations and privacy issues that surround genomic research.
When The Genome Institute receives genetic samples from such patients, they must follow certain protocols and safeguards to ensure patient privacy. Ms. Fulton outlined the institute’s pipeline starting from sample delivery, through the sequencing process and final data submission. She also presented many of the challenges researchers face at almost every step of the way. “The world of genomics and human studies issues is like the ocean,” she said. “It’s constantly moving.”
The attendees ended the day with a final breakout session. They discussed the day’s activities, which they said left them with a lot to think about in terms of the time and effort that goes in to this type of research. They felt the event provided an important opportunity for advocate involvement on Institutional Review Boards (IRB’s) and were eager to share much of the knowledge they had acquired that day regarding genomic research and consent issues.
View more event photos on Flickr.