2014
DOI: 10.1089/gtmb.2013.0254
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The Western Australian Family Connections Genealogical Project: Detection of Familial Occurrences of Single Gene and Chromosomal Disorders

Abstract: 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 … Show more

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Cited by 3 publications
(3 citation statements)
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“…This could ultimately contribute to improved screening for familial disorders, and earlier treatment initiation. Centers in other countries, such as Australia, Sweden, and the United Kingdom, have potential to link the administrative healthcare data between first‐degree relatives . Thus the opportunities for validating and expanding our research work are many.…”
Section: Discussionmentioning
confidence: 99%
“…This could ultimately contribute to improved screening for familial disorders, and earlier treatment initiation. Centers in other countries, such as Australia, Sweden, and the United Kingdom, have potential to link the administrative healthcare data between first‐degree relatives . Thus the opportunities for validating and expanding our research work are many.…”
Section: Discussionmentioning
confidence: 99%
“…In addition to large cohort follow-up, our suggestion for future research is to also use existing large genealogy databases. Several Scandinavian countries, Australia, 32 and the state of Utah in the United States 33 have genealogy databases that include large numbers of people. These databases could be linked to cancer registries and hospital data to identify families with HDGC and determine risk in family members.…”
Section: Randommentioning
confidence: 99%
“…Several information-rich environments and two of the well-known primary data collection efforts (the Framingham Study and the Panel Study of Income Dynamics) (D'Agostino et al, 2008;Johnson & Schoeni, 2011) facilitate making comparisons across generations within the same family. The Family Connections Genealogical Project in Western Australia has actively utilised this capacity and the large N for focused genetic epidemiological research (Brameld et al, 2014). The Danish Family Relations Database has been used to study how a number of diseases cluster in families (Boyd et al, 2009;Oyen et al, 2012).…”
Section: Families and Generationsmentioning
confidence: 99%