Getting you the right drug at the right dose at the right time is the goal of pharmacogenomics, which involves studying how your specific DNA sequence influences your response to medications.
The drugs available today to treat cancer, heart disease and other conditions are powerful agents that work as intended in most patients. Yet, in some people, a particular drug at the standard dose might not work well enough or may even trigger a serious adverse reaction. The reasons for this lie in your genes.
By using your unique genetic makeup as a factor when prescribing a drug for you, your doctor can maximize treatment effectiveness while avoiding potentially life-threatening side effects.
Pharmacogenomics can help us answer a broad range of questions, such as:
- Why does standard chemotherapy eradicate breast cancer in some women but work less effectively in other women?
- Can we find new treatment options for men with advanced prostate cancer that has resisted all previous therapies?
- What is the right blood thinner drug for patients who get a stent for their coronary artery disease?
- How can we get rules into the pharmacy systems that take into consideration the patient's genome for each prescription?
The BEAUTY study is performing whole-genome sequencing before and after neoadjuvant therapy (drug therapy before surgery) in women newly diagnosed with breast cancer.
Pharmacogenomics Program researchers are then comparing the tumor genome before and after neoadjuvant therapy against the patient's germline genome — the sequence of DNA in normal, noncancerous tissue — in order to match the genomic response to therapy.
With this study, we will be able to identify the best treatment options based upon the molecular response to therapy. We are also developing mouse "avatars" with the patient tumors so that we can find new and novel treatment options in the laboratory.
The PROMOTE study takes an approach similar to the BEAUTY study, but in prostate cancer. The Pharmacogenomics Program hopes to elucidate the DNA sequences associated with response to therapy in order to identify new treatment options for patients with advanced prostate cancer that has resisted all conventional therapies.
This study also includes groundbreaking work with mouse avatars, again to identify new and novel treatment options.
Coronary Artery Disease
Patients with coronary artery disease often come into the emergency room requiring placement of one or more stents. In the TAILOR-PCI study, we are determining the specific DNA variant that might indicate whether the patient should receive the anticoagulant drug clopidogrel or an alternative drug, a question that has vexed cardiologists for years.
Drug-gene Alerts at the Point of Care
More generally, researchers have identified dozens of DNA variants that indicate which drug or how much drug should be prescribed. Most electronic medical record systems are not equipped to alert the pharmacist or physician to these drug-gene interactions.
The RIGHT study is building the necessary infrastructure to trigger alerts to physicians in the drug prescription process so that patients get the right drug at the right time in the right amount.
Richard Weinshilboum, M.D.