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Butler R Dwosh E Beattie BL Guimond C Lombera S Brief E Illes J Sadovnick AD 《Journal of genetic counseling》2011,20(2):136-142
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. 相似文献
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Stephanie Skinner Colleen Guimond Rachel Butler Emily Dwosh Anthony L. Traboulsee A. Dessa Sadovnick 《Journal of genetic counseling》2015,24(1):46-57
Multiple sclerosis (MS) affects up to 1/500 Canadians. The University of British Columbia MS Clinic (UBC Clinic) is the only MS clinic in Canada (and likely internationally) that routinely offers genetic counseling to patients and their families. A typical session includes the collection of family history and demographic data, discussion of the inheritance of MS, interpretation of family-specific recurrence risks and psychosocial counseling. The aims of this study were to explore patients’: 1) expectations of the genetic counseling session; 2) understanding of the etiology of MS (both pre and post-session); and 3) post-session perceptions of genetic counseling. A two-part questionnaire to assess genetic counseling services was distributed before and after sessions to all consenting patients seen during the period October 1, 2008 to February 28, 2009 inclusive. Sixty-two completed questionnaires were analysed. Genetic counseling was found to significantly increase the number of individuals who were able to correctly identify the etiology of MS (p?<?0.001). Patient satisfaction with genetic counseling was high, with an average satisfaction score of 32.4/35 (92.6 %). Of those who provided comments (n?=?42/60) regarding the usefulness of the genetic counseling session, 95.2 % reported it useful (n?=?40/42). Findings suggest that genetic counseling is effective in increasing patients’ knowledge of the etiology of MS and is viewed by patients as a useful service. Based on the high level of positive feedback regarding genetic counseling by the study sample, this study suggests that the services provided by genetic counselors may be beneficial for patients with MS seen in other centers. 相似文献
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Alexander EL Butler RK Guimond C Butler B Sadovnick AD 《Journal of genetic counseling》2011,20(2):129-135
The University of British Columbia Hospital Clinic for Alzheimer Disease and Related Disorders (UBCH-CARD) invests significant
effort to obtain medical records for the confirmation of patient–reported family histories of dementia. The effectiveness
of requesting these records was assessed through a review of the 275 requests made by UBCH-CARD genetic counselors during
the 24-month period of January 1, 2005–December 31, 2006. The results were categorized according to outcome. Useful medical
records were obtained from 92 (33.5%) requests: 77 (28%) records supported, and 15 (5.5%) records did not support, the patient–reported
information. An additional 20 (7.5%) requests yielded only vague information. When verification was possible, patient–reported
family histories of Alzheimer disease, dementia, or memory loss were accurate in 84% of cases. During the study period, almost
500 h of genetic counselor work time was spent obtaining, reviewing, and following-up on records received. Changes made to
UBCH-CARD procedure in response to these findings are discussed. 相似文献
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