Glossary of Terms

Acute care: Treatment of medical conditions over a short period of time, either periodic or temporary.

Angioplasty (or percutaneous intervention ‘PCI’): The procedure for widening a blocked artery by inserting a catheter into a major artery in the patient’s groin. Through this catheter a balloon is threaded to the area of the artery that is blocked. The balloon is inflated several times to widen the blockage and increase blood flow to the heart.

C. difficile: Clostridium difficile, or C. difficile, is a kind of bacteria that upsets the normal balance of healthy bacteria in the digestive system, causing diarrhea. Most often found in hospitals and nursing homes, it is easily spread from person to person through contaminated instruments and dirty hands.

Prenatal Genetics Clinic – provides screening and genetic counseling for patients at risk of passing on a genetic disorder to their infant.

DNA: Deoxyribonucleic acid (DNA) contains the genetic instructions used in the development and functioning of all known living organisms.

Electrocardiogram (ECG): A test that records electrical signals given off as a heart beats. It is used for diagnosing common heart conditions including heart attacks.

GAAP: Generally Accepted Accounting Principles GAAP) are the widely accepted set of rules, conventions, and standards used in the reporting of financial information.

Gaucher disease: A genetic disease marked by the accumulation of a fatty substance in cells and organs, specifically the spleen, liver and bone marrow.

Leukodystrophies: A group of genetic disorders affecting the central nervous system, in particular the growth and maintenance of the myelin sheath that surrounds nerves.

Local Health Integration Network: (LHIN)There are 14 LHINs in Ontario, each under the umbrella of the Ontario Ministry of Health and Long-Term Care. LHINs oversee the provincial health care budget, mandating the planning, integrating and funding of health care services in their region.

Mastectomy: The removal of a breast and the underlying muscle.

Medical geneticist: A physician who specializes in the diagnosis and treatment of hereditary disorders.

Metabolic disorder: Disorders involving the body’s inability to process, transport, manage and use food protein. People with metabolic disorders have difficulty converting food protein into usable energy.

Phenylketonuria (PKU): A genetic disorder defined by the body’s inability to produce the required acid for breaking down food protein.

Radiation oncologist: A physician who specializes in treating cancer with radiation therapy.

Radioactive seeds: A form of cancer treatment, also known as brachytherapy, these seeds are implanted into cancerous tissue to destroy them.

Working capital: A financial metric representing the operating liquidity available to an organization. It is considered part of operating capital, and is calculated as current assets minus current liabilities.

The DNA of
personalized medicine

The mapping of the human genome has launched a revolution in health care, and personalized medicine – physicians treating patients based on their DNA – is becoming a reality.

Personalized medicine recognizes that genetic variations make people vulnerable to certain diseases and the most effective drug treatments should work with, not against, their unique genetic code.

"Our goal is to understand patients' differences and in turn, provide more effective treatment with fewer side effects," says Dr. Richard Kim, Clinical Pharmacologist, Medicine, LHSC. "This helps us provide the best care possible."

Dr. Kim and his team were the first in Canada to start a personalized medicine clinic for the blood thinner warfarin. More than 200 patients on warfarin have been seen at this clinic since 2008. Dr. Kim is also leading a personalized medicine program on statins, the cholesterol lowering drug.

Since 2009 Dr. Kim has been working closely with oncologists at the London Regional Cancer Program (LRCP), starting a personalized medicine clinic for breast cancer patients on tamoxifen therapy to ensure patients experience the best outcomes possible. In early 2010 Dr. Kim was awarded the Cancer Care Ontario Research Chair (Level 1) in Experimental Therapeutics.

Tamoxifen is a powerful drug used to treat and prevent certain breast cancers. Through his research, Dr. Kim has been able to show that some women with a genetic defect in a particular metabolizing enzyme have trouble converting tamoxifen to its active form; in fact they cannot break down more than 25 per cent of drugs in clinical use. When treated with tamoxifen, these patients are at a greater risk for breast cancer recurrence, and even death, than those without the genetic defect.

"Nearly one in 10 Canadians lack this particular metabolizing enzyme, and studies have shown that women who have a low amount, or none of this enzyme activity may not benefit from tamoxifen therapy," says Dr. Kim. "This has serious implications as tamoxifen is routinely given to breast cancer patients for five years at the same dose and there is no way of initially knowing if the drug is working at its optimal level."

"Our goal is to understand patients' differences and in turn, provide more effective treatment with fewer side effects."

Armed with this knowledge, Dr. Kim has been referring patients in his clinic for genotype as well as tamoxifen and endoxifen blood level assessments using state-of-the-art genotyping and drug-level analysis technologies. Dr. Kim then provides a detailed report to the referring oncologist about the patient's ability to metabolize tamoxifen and offers suggestions for alternative treatments.

"For years we have used the same dosing for most of our drugs," says Dr. Brian Dingle, Chief of Oncology at the LRCP. "That some patients respond well, while others don't respond as well has been mystifying. The use of genetic testing to determine individual benefit and risk demystifies the wide variety of outcomes, and improves the therapeutic margin for our medications. We learn, patients benefit and we improve costs, all with the same project."



ABOVE: Dr. Richard Kim and his team. Front Row: Dr. Rommel Tirona, Dr. Richard Kim, Second Row: Sarah Woolsey, Inna Gong, Dr. Ute Schwarz, Julie Brown, Matilde Leon-Ponte, Third Row: Linda Asher, Marianne DeGorter, Wendy Teft, Sara LeMay, Fourth Row: Cameron Ross, Michael Knauer, Dr. George Dresser, Colin Suen, Robin Legan, Not pictured: Dr. Natalie Crown.