Search

Genome-wide sequencing (exome and whole genome) has transformed our ability to diagnose patients with suspected genetic disorders. Cerebral palsy (CP), although historically thought to be due to birth injury (perinatal hypoxia), represents a clinical spectrum of disorders, many of which have been attributed to a genetic cause. GWS has elucidated the underlying single gene cause for many patients with CP and has important implications for the customization of treatment, management, and genetic counseling. International guidelines recommend genetic counseling for all families considering genome-wide sequencing. Genetic counselors educate and support families and help them to make testing decisions based on their values. They can help families adapt to, and understand the implications of a genomic diagnosis. Here, we review advances in sequencing for CP, clinical features suggestive of a genetic etiology of CP, practice guidelines for GWS, and a practical approach to the genetic counseling of these families. This includes: the content to be addressed in pre-test and post-test genetic counseling sessions, the benefits of a establishing a genetic cause and importantly, the need for ongoing support., Competing Interests: Declaration of Competing Interest The authors have no competing interests to declare., (Copyright © 2021. Published by Elsevier Inc.)

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.

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.

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.