It was big news this week: A major change shift in cardiac care recommendations.
The American Heart Association and the American College of Cardiology released new guidelines that adjusted expectations for lowering low-density lipoprotein (LDL) levels to a specific number, and adding other risk factors into the equation of who should take statins, a class of drugs designed to treat high cholesterol.
Experts developed the guidelines based on population studies that averaged the benefits of cholesterol-lowering drugs across millions of people. But for some people, the medications do not work as well and in some cases, cause adverse affects, such as painful leg cramping. What would it take to customize cholesterol lowering with the best drug at the right dose?
Enter the emerging field of personalized medicine, or National Human Genome Research Institute (NHGRI) calls it, genomic medicine. Doctors have known for decades that some people are at higher risk of a common disorder such as diabetes, or react poorly to medications. Since the completion of the Human Genome Project in 2003, NHGRI has led numerous studies to understand the genetic differences in people at increased risk for disease and to understand how best to use genetic testing to customize an individual’s medical treatment.
The field of cancer care is likely one of the first beneficiaries. Cancer is a genetic disease. Genomic research is increasingly helping to inform and shape diagnosis and treatment recommendations.
One example: Earlier this month, researchers at the University of Michigan identified a type of mutation that develops after breast cancer patients take anti-estrogen therapies. The mutation may cause some patients to become resistant to this therapy, but blood test monitoring may mean clinicians can spot the advancing mutation and tinker with treatment before resistance becomes full-blown.
Glioblastoma multiforme (GBM) is a common and deadly type of brain cancer that will kill some 14,000 people this year. Most patients die within 14 months of their diagnosis. In 2008, GBM became the first cancer that researchers from The Cancer Genome Atlas Research Network began to systemically study.
Researchers discovered GBM fell into four different molecular subtypes, discovering in the process that chemotherapy and radiation did not work as well for some of the genotypes. Patients with that molecular profile, then, may be able to avoid toxic treatment and its ravaging side effects. The work also uncovered new details on mutations in genes that promote cancer, called oncogenes, and others that protect against cancer, known as tumor suppressor genes.
“The Cancer Genome Atlas project, a collaboration between the National Cancer Institute and NHGRI as been analyzing 500 cancer samples of one common cancer and comparing them to 500 normal genomes from the same patient to see what has changed and causes them to grow out of control,” says Larry J. Thompson, NHGRI spokesperson. “TCGA has studied more than a dozen common cancers and work continues at a rapid pace to understand genetic changes that cause most tumors.
“Genomics is also changing the way some cancers are categorized. For example, we know now that on a cellular level a lung cancer can be closely related to a form of colon cancer, which may speed repurposing of some cancer drugs,” he says.
The race is on. In September, The National Institutes of Health (NIH) issued three grants totaling more than $25 million for three research groups to develop a database of the millions of genomic variants potentially relevant to human disease, and to decipher which may be useful for clinical practice.
“We’re in the early stages of these applications. We’re learning so much, so fast, it’s hard to know what’s going to break first, and what will turn out to be clinically relevant and meaningful,” Thompson says.
What’s possible on the horizon? We’ll ask that of NHGRI’s Director, Dr. Eric Green, who will be joining TEDMED and other guests this Thursday for a live Google+ Hangout event at 2pm ET. Among the topics we’ll discuss:
- What is technically possible now, and what is the medical rationale for wanting to push this area of scientific research?
- What are the barriers to progress?
- Where will the field be in five years?
- How is genomic research changing clinical practices?
- How will we address regulations, reimbursement issues and other practical considerations?
Click here to register. We’ll take questions from our Twitter, Google+ and Facebook audiences and will answer as many as possible.