Although these terms are often used interchangeably, pharmacogenetics refers to the relationship between genetic variation and drug response, while pharmacogenomics involves the development of new drugs using information about the human genome. 

PTRG does not aim to develop new drugs; instead PTRG studies the differences in response to prescription medications so as we can optimize the efficacy and safety of the treatment.

Researchers believe that pharmacogenetics can lead to more effective prescribing based on individual genetic profiles.  By using a person's genetic profile to determine how they will respond to a drug , pharmacogenetics works to reduce the frequency of drug related side effects and increase the effectiveness of treatment to optimize therapy and speed recovery.
 

Genes determine the make up of all the body's proteins, and as medicines travel through the body they interact with many of these proteins.  Individual variations in genes are normal and can produce proteins that work differently from person to person.  Consequently, these variations can affect how individuals respond, or do not respond to different drugs.

The way an individual responds to a drug can vary by age, sex, weight, nutrition, co-morbid illness, co-medications and genetic structure.  Favorable responses to drugs occur at best only 60% of the time, which means a significant percentage either does not respond to a drug or is at risk of having an adverse reaction.

In population genetics, a founder effect refers to the loss of genetic variation that occurs when a new community is established by a relatively small number of individuals from a larger population.  The Newfoundland population is an excellent example of this phenomenon, as researchers estimate 90% are descendants from just 20,000 - 30,000 people who migrated from south west England and Southern Ireland and settled in isolated communities along the coast.

This historical pattern of migration and isolation has resulted in Newfoundland being recognized as a unique founder population.  Features that make it unique and well suited for genetic research include:

• Coastal settlements (outports)
• Large family sizes
• Descendants living in the same area
• Religious segregation and geographic isolation
• Cultural and environmental homogeneity

PTRG is leading the development of the Heritability Analytics Infrastructure (HAI), a specialized province-wide relatedness database that will result in a rich genealogical resource valuable for genetic, epidemiological, demographic and public health studies.

The accessibility of this information will, for instance, be a boon for those seeking to clarify the genetic basis for transmission of a disease.  In the past, health researchers spent valuable time and money building family pedigrees in order to identify genetic links.  They could spend years visiting residents in small communities, searching through church records and exploring Provincial Archives.  However, by linking with pre-confederation provincial census data, the HAI will enable researchers  to identify genealogical links among individuals with predispositions to particular health outcomes (e.g. diseases or drug related adverse events) in an efficient and timely manner while protecting individual privacy.  Instead of taking years to find a critical genealogical linkage, it may take just minutes.

PTRG carries out innovative research projects that involve electronic data on health information.  It is therefore vital that PTRG adheres to privacy legislation and internal standards, policies and procedures that facilitate privacy compliance for the collection, use and disclosure of data for research purposes.

In preparation for the handling of health information for research, PTRG has conducted a Privacy Impact Assessment (PIA) to help identify the potential risks or concerns that may arise.  In support of this effort, consultations have been held with the  federal and provincial Privacy Commissioners , as well as other major research centres such as University Health Network in Toronto and centre for Health Services and Policy research in Vancouver. 

Health information collected and used by PTRG will be accessed only by authorized researchers for study purposes through internal access protocols.

PTRG is adhering to an information securities management standard (ISO 17799) to guide the information technology and security policies and procedures.  In addition PTRG will administer a privacy analysis for individual research projects to identify the specific threats or risks to privacy that may arise.