Why is family history important when discussing genomic medicine? What does right drug, right dose at the right time mean? Don’t doctors always do that? Why is my DNA important to understanding and treating my father’s diabetes and my brother’s depression? How can pharmacogenomics help with my mother’s cancer treatment? What the heck does any of this even mean to understanding my health care?
Mayo Clinic physician Timothy Curry, M.D., Ph.D., and genomic scientist Matthew Ferber, Ph.D., set the stage for answering these questions and many others at Mayo Clinic’s Patient and Public Symposium, the opening event to the Mayo Clinic Center for Individualized Medicine’s fourth annual Individualizing Medicine Conference: From Promise to Practice.
Nearly 200 people filled Phillips Auditorium in the Siebens Building to attend this public session of the genomic conference.
Dr. Curry, director of the Education Program at the Center for Individualized Medicine, or CIM as it’s commonly referred to, started things off with a question: “How are we using personalized medicine in your health care right now?”
“We’re excited to talk to you about the alphabet soup of genomic medicine,” added Dr. Ferber, associate director of CIM.
And they did, using the alphabet soup of DNA to discuss genetic variants. DNA, short for deoxyribonucleic acid, is a molecule that carries most of the genetic instructions used in the development, functioning and reproduction of all known living organisms and many viruses. So what is a genetic variant in your DNA? To understand a variant, you first have understand what is normal, Dr. Ferber explained. What does a normal genome look like? “We’ve known about DNA since Watson and Crick in the 1950s,” said Dr. Ferber. “We’ve been working on it since the 1970s but the completion of the Human Genome Project in 2003 really set off this whole field of study.”
Everyone has variants in their genome. Some of them make one person’s hair red, another a brunette. Some give a person blue eyes, others brown. And a few of the variants may cause a person to develop cancer, have cystic fibrosis, or suffer from depression.
A person’s genes are one important part of a person’s medical makeup. But other factors play crucial roles, as well. Teresa Kruisselbrink, M.S., CGC, and Geoffrey Beek, M.S., CGC discussed some of the multifactorial components to a person’s health in “The Individual Experience.” Family history, environment and genetic makeup can all be critical components in most diseases.
“Risk is rarely one thing for most of the common diseases,” said Kruisselbrink. “Risks are usually multifactorial.”
Sometimes a single gene can cause a person to develop a disease. Kruisselbrink and Beek explained how cystic fibrosis is one such example. In other examples, including some types of cancer, family history and environment may be contributing factors, as well as having a genetic component. For coronary artery disease, however, there is no genetic component that has been discovered that can predict this disease.
“It’s important to understand the whole spectrum of causes,” said Beek. “We want the patient to know what a genetic test might tell them, but also what it can’t.”
“A person’s genetic code is like a recipe,” Kruisselbrink added. “When an ingredient gets changed, it makes us different. Sometimes the change just means that one person is short, another tall. Other times that ingredient can indicate a disease.”
The importance of pharmacogenomics, one of CIM’s signature program, and how it’s being used today was explained by Eric Matey, Pharm.D., R.Ph.,a pharmacist with CIM. Dr. Matey has a special interest in helping individuals understand the relationship between genes and response to medications.
“Not all patients have the same ability to metabolize a drug correctly,” Dr. Matey said. “A pharmacogenomics test can tell us if a person has trouble metabolizing what might be the perfect drug for someone else.”
Mayo Clinic has developed a nine-gene test panel to help determine the right drug for a patient, and it uses medical alerts to warm attending physicians to consider a pharmacogenomics test before prescribing certain drugs.
Svetomir Markovic, M.D., Ph.D., an oncologist, hematologist, and immunologist in Mayo Clinic’s Division of Hematology, is a world leader in researching and treating individuals with cancer especially those with malignant melanoma and non- Hodgkin’s lymphoma.
“My job at MayoClinic is to treat cancer,” Dr. Markovic told the audience in his talk, “Cancer: Individualizing Diagnosis and Treatment.” “The cure for cancer is not in our hands yet. But we may have a way to get there.”
That cure is complex, he added, because cancer is complex. Different genes in a tumor have different roles; they adapt and change to treatment. Still, he believe, a cure is possible. How? Improve drug delivery. Understand multiple modalities and make better use of immunotherapy. We need to embrace complexity, and rely on science, he notes. “And we must never give up."
Dr. Ferber could have been speaking for all the panelists when he concluded, “Genomics has created a very exciting time right now to be in medicine.”
And 200 people came away from the Patient and Public Symposium knowing that this enthusiasm for genomics is creating better health care for everyone.
The Individualized Medicine Conference 2015 continues tomorrow, September 21, and promises to be an informative and exciting look at the present and future of genomic medicine. If you’re unable to attend, follow along on Twitter at #CIMcon15, or catch the day’s recap on Facebook or the CIM blog.
Tags: cancer, center for individualized medicine, CGC, DNA, Dr. Eric Matey, Dr. Matthew Ferber, Dr. Svetomir Markovic, Dr. Timothy Curry, genetic, Genetic Counseling, genomics, Geoffrey Beek, individualized medicine, Individualized Medicine Conference 2015, Patient and Public Symposium, personalized medicine, pharmacogenomics, Teresa Kruisselbrink, Uncategorized