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Genetic Counseling for Early‐onset Familial Alzheimer Disease in Large Aboriginal Kindred from a Remote Community in British Columbia: Unique Challenges and Possible Solutions
Author(s) -
Butler Rachel,
Dwosh Emily,
Beattie B. Lynn,
Guimond Colleen,
Lombera Sofia,
Brief Elana,
Illes Judy,
Sadovnick A. Dessa
Publication year - 2011
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-010-9334-9
Subject(s) - genetic counseling , disease , public health , medicine , family medicine , genetics , nursing , biology , pathology
A novel, pathogenic presenilin 1 (PS1) mutation has recently been identified in a large Aboriginal kindred living in dispersed communities throughout British Columbia, Canada. Disseminating genetic information and ensuring that appropriate genetic counseling services are provided to all concerned relatives have posed several unique challenges. These challenges include knowledge exchange and continuity of care in a geographically remote and culturally distinct community. To our knowledge, this is the first time a specific genetic counseling approach has been needed for early‐onset familial Alzheimer disease (EOFAD) in a North American Aboriginal community.