Authors:
Brameld KJ, Dye DE, Maxwell S, Brisbane JM, Glasson EJ, Goldblatt J, O'Leary P
Authors notes:
Genetic Testing and Molecular Biomarkers 18(2): 77-82
Keywords:
genealogical database, genetic disorders, chromosome disorders, WA Family Connections Genealogical Project, epidemiological research
Abstract:
To investigate using a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.
There were 216 family clusters among 11,303 people who were recorded as having a genetic or chromosomal disorder on their hospital admission record.
Single gene disorders most commonly occurring in multiple family members have been identified using the WA Family Connections Genealogical Project.
These disorders reflect the most common single gene disorders requiring hospital admission, but which are not fatal before reproductive age and do not result in a loss of fertility.
They are also restricted to disorders with earlier onset, as the WA Family Connections Genealogical Project currently covers 2-3 of the most recent generations.
This study demonstrates the utility of record linkage genealogies to identify kindred with genetic disorders, offering a rich resource of information for focused genetic epidemiological research.