News at Medicine - September 2008 - Developments in the Newfoundland Genealogy Database


Developments in the Newfoundland Genealogy Database
September 19, 2008
Infrastructure for a province-wide heritability database is now in place, and guidelines are being established regarding privacy and ethics.
 

The Heritability Analytics Infrastructure (HAI) and associated customized linkage software (KINNECT) will aid genetic researchers in performing pedigree linkages and genetic analysis.

This project is part of the Canadian Century Research Infrastructure (CCRI). It has the potential to greatly facilitate genealogical research by providing accurate, timely and inexpensive family links.

The Population Therapeutics Research Group (PTRG), funded through the Atlantic Canada Opportunities Agency and led by Dr. Proton Rahman (professor of medicine) is working with the CCRI team to develop a province-wide heritability database that can be used to reveal genealogical links among individuals with a particular disease.

Newfoundland’s population has mainly developed from a founder population of approximately 20,000–30,000. Discovering essential genealogical links may help clarify the genetic basis for transmission of a disease, effectiveness of a drug therapy and the potential for adverse reactions to treatments.

In the past, health researchers looking for genetic links for a particular disease – especially if it was rare – would spend years visiting residents in small communities, searching through church records, and exploring the Provincial Archives. This process was expensive, time consuming and at times incomplete.

This infrastructure will be a unique provincial asset, as the pattern of migration and isolation that existed in the past has resulted in Newfoundland being recognized as a unique founder population.

In addition to the development of the province-wide heritability database, Astrid Perrot- Daley, the PTRG’s informatics lead, has developed the HAI and KINNECT which together will allow researchers to identify relationships and therefore possible genetic links between people who may previously have been thought to be unrelated.

Knowing that two seemingly unrelated patients with a similar disease share a common ancestor can be a clue that leads to exposing the genetic basis of disease. Using the relatedness database offers better protection of patient privacy than the current research methods. Instead of a researcher visiting community members or the archives, unidentifiable information can be placed in a computer program along with other family and demographic information. The program compares this data to the CCRI dataset and determines the probable degree of relatedness and potential common ancestors. 

To ensure the processes developed by the PTRG meet current guidelines regarding privacy and ethics, the development of the HAI has been taken forward in close liaison with Dr. Daryl Pullman (professor of medical ethics) and has been discussed with the Human Investigation Committee.

The HAI does have some data limitations but work is planned to address these limitations. One such limitation, for example, is accessing other data sources such as Vital Statistics information.

In addition to housing and developing the HAI, the PTRG through the work of Mitch Sturge (systems administrator) and Mohammed Uddin (PhD student) is working to develop the software and technical skills required to allow researchers to integrate their genetic, phenotype and pedigree data into one centralized database. This will enable researchers to carry out the required analysis using a range of software tools.

The analysis of genetic research information will be a service the PTRG aims to offer to MUN researchers in early 2009. A presentation on the work of the HAI and how the analytical tools operate is available. Anyone interested in learning more about the work of the PTRG and the opportunities offered by the HAI and associated software applications should contact, Catherine Street, PTRG project manager, at catherine.street@med.mun.ca.  

Further information regarding the work of the PTRG may also be found on the team’s website located at www.med.mun.ca/ptrg/home.aspx