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In this paper we describe the analysis, planning, design, development, implementation and evaluation of a new online Graduate Certificate in Genomic Counselling and Variant Interpretation (GCGCVI) at The University of British Columbia (UBC). Genetic counselling is now a prerequisite for diagnostic genomic testing in many countries, demanding that genetic counselling practitioners have up‐to‐the‐moment genomic counselling skills and knowledge. Current practitioners reported a desire for more training in this rapidly developing field: our international survey revealed substantial interest in online continuing education addressing themes such as testing and clinical bioinformatics, applied variant interpretation, evidence‐based genomic counselling, and other emerging genomic topics. However, our market analysis found no post‐graduate program globally that offered such training. To fill this gap, our oversight team of genetic counsellors and geneticists therefore guided development of curriculum and materials, and online learning specialists developed rigorous interactive asynchronous online graduate courses through collaboration with subject matter experts, following best practices in online learning design. Since launch in September 2020, we have gathered learner feedback using surveys and focus groups, and we have used learning analytics to understand how learners engaged with each other and with course materials. Together, these have helped us understand learner behaviour and guide the continuous process of design improvement to support the learning goals of this audience of professional learners. Our courses have been reviewed and approved by the UBC Faculty of Medicine, UBC Senate, and the Province of British Columbia Ministries of Advanced Education and Health, and assessed by the National Society of Genetic Counselors (NSGC, USA) and the Canadian Association of Genetic Counsellors (CAGC) to enable learners to receive North American continuing education credits. To date, 151 individuals from 18 countries have succeeded in one or more course and 43 have completed the entire certificate. [ABSTRACT FROM AUTHOR]

Objective: Outcomes from in vitro fertilization (IVF)/intrauterine insemination (ICSI) cycles for patients who underwent preimplantation genetic testing for monogenic/single gene (PGT-M) and structural chromosome rearrangements (PGT-SR) patients were reviewed. Patients pursuing PGT-M and PGT-SR often do not have pre-existing fertility issues and therefore may have uncertain expectations of successful outcomes. Before pursuing PGT-M and PGT-SR, patients require evidence-based counseling regarding the probability of having a healthy child.Method: Retrospective review from a single private IVF clinic of 73 PGT patients, from whom a total of 437 blastocysts were biopsied and screened. Embryo results and pregnancy outcomes were analyzed.Results: Of the 45 PGT-M patients, 64.4% had at least one euploid unaffected embryo. The cumulative pregnancy rate for patients who had embryo transfers in this group was 89.7%, with an ongoing pregnancy or delivery rate of 48.9%. For the 28 PGT-SR patients, 60.7% had at least one euploid unaffected embryo. The cumulative pregnancy rate for patients who had embryo transfers in this group was 87.5%, with an ongoing pregnancy or delivery rate of 42.9%.Conclusion: This information can supplement the existing data in the literature to counsel new patients in terms of realistic expectations of success following PGT-M and PGT-SR. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The article discusses a study which investigates the prevalence and genetic risk factors of multiple sclerosis (MS) among Iranian immigrants to British Columbia. Topics include the collection of blood samples for serological analyses and used questionnaire, the characteristics and causes of MS, and cases of MS patients with smoking history.

Genetic and environmental factors have important roles in multiple sclerosis (MS) susceptibility. Several studies have shown an association between smoking and MS risk. Here, in a population-based Canadian cohort, we investigate the relationship between personal and maternal smoking exposure and the risk of MS. Using the longitudinal Canadian database, 3,157 MS cases and 756 spouse controls were administered questionnaires on active and passive smoking history. Mothers of cases and controls were also asked about their smoking exposure during pregnancy. The MS cases were more likely to have smoked than spouse controls (odds ratio 1.32, 95 % confidence interval 1.10-1.60, p = 0.003). This association was driven by an excess of ever-smokers in male MS cases. No association was seen with maternal active or passive smoking exposure during pregnancy. Ever-smoking is associated with increased MS risk in males. Further work is needed to understand the mechanism underlying this association. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Genetic and environmental factors have important roles in multiple sclerosis (MS) susceptibility. A clear parent-of-origin effect has been shown in several populations. Advanced maternal age has been shown to be associated with adverse outcomes in offspring including chromosomal abnormalities. Advanced paternal age is associated with a number of adult onset disorders including schizophrenia and bipolar disorder. In a population-based Canadian cohort, we investigated whether there is any difference in parental age at birth for MS index cases compared to spouse controls. Methods: Using the longitudinal Canadian database, we identified 5,681 MS index cases and 1,249 spouse controls with complete information on parental dates of birth, thereby allowing a calculation of the maternal and paternal ages at the birth of their children (MS index cases and spouse controls). Results: No significant difference in maternal or paternal age at birth was found (average MS index case maternal age at birth = 27.3 years, average spouse control maternal age at birth = 27.0 years, p = 0.13; average MS index case paternal age at birth = 30.7 years, average spouse control paternal age at birth = 30.2 years, p = 0.37). Conclusions: Parental age at birth is not associated with susceptibility to MS. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The ages of onset in multiple sclerosis cases span more than 7 decades. Data are presented for affected relative pairs from a Canadian population base of 30,000 multiple sclerosis index cases (1993–2008). The effects of genetic sharing, parent of origin, intergenerational versus collinear differences, and gender on the ages of onset were evaluated in the following concordant pairs: monozygotic twins (n = 29), dizygotic twins (n = 10), siblings (n = 614), first cousins (n = 405), half siblings (n = 29), parent/child (n = 285), and aunt/uncle/niece/nephew (avunculars) (n = 289). Fisher's z test assessed intraclass correlation (r) for ages of onset. Correlations for monozygotic twins, dizygotic twins, full siblings, and first cousins were 0.60, 0.54, 0.20, and 0.10, respectively. Dizygotic twins resembled monozygotic twins more than siblings. The age-of-onset correlation for maternal half siblings (r = 0.37) was higher than that for paternal half siblings (r = 0.26), consistent with other observations suggesting an intrauterine environmental effect on multiple sclerosis risk. Intergenerational comparisons are complicated by substantial increases of multiple sclerosis incidence over time. Genetic loading (familial vs. sporadic cases) did not generally influence the age of onset, but correlation of age of onset in multiple sclerosis relative pairs was proportional to genetic sharing. A maternal parent-of-origin effect on the age of onset in collinear generations was suggested. [ABSTRACT FROM PUBLISHER]

We thank Compute Canada for the Research Allocation Competitions allocation, which facilitated our analysis of the IMAG INE and EGA genomes, and Julia Handra for coordinating the STR molecular testing of the clinical samples. Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions. [Extracted from the article]

ObjectivePregnancy has a well documented effect on relapse risk in multiple sclerosis (MS). Prospective studies have reported a significant decline by two-thirds in the rate of relapses during the third trimester of pregnancy and a significant increase by two-thirds during the first 3 months postpartum. However, it is unclear as to whether there are any long term effects on disability.MethodsData were collated from clinical records and family histories systematically collected from the University of British Columbia MS Clinic.ResultsClinical and term pregnancy data were available from 2105 female MS patients. MS patients having children after MS onset took the longest time to reach an Expanded Disability Status Scale (EDSS) score of 6 (mean 22.9 years) and patients having children before MS onset were the quickest (mean 13.2 years). However, these effects were not related to term pregnancy and were fully accounted for by age of MS onset.ConclusionsPregnancy had no effect on the time to reach an EDSS score 6. As MS predominantly affects women of childbearing age, women with MS can be reassured that term pregnancies do not appear to have any long term effects on disability. [ABSTRACT FROM AUTHOR]

Background: There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a nonfatal congenital anomaly. Methods: We investigated whether or not congenital anomalies are associated with MS in a population-based cohort. We identified 7063 MS index cases and 2655 spousal controls with congenital anomaly information from the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS). Results: The frequency of congential anomalies were compared between index cases and controls. No significant differences were found. Conclusions: Congenital anomalies thus do not appear to be associated with MS. However, we did not have complete data on types and severity of congenital anomalies or on maternal birth history and thus this study should be regarded as preliminary. [ABSTRACT FROM AUTHOR]

Multiple sclerosis (MS) is a complex neurological trait. Allelic variation in the MHC class II region exerts the single strongest effect on MS genetic risk. The clinical onset of the disease is extremely variable, and can range from the first to the ninth decade of life. Epidemiological studies have suggested a modest genetic component to the age of onset (AO) of MS. Previous studies have shown that HLA-DRB1*1501 may be associated with a younger AO. Here, we sought to uncover any effect of HLA-DRB1*1501 on the AO of MS in a large Canadian cohort. A total of 1816 MS patients were genotyped for HLA-DRB1. Patients carrying HLA-DRB1*1501 were shown to have a small, but significantly lower, AO than patients without the allele (P=0.03). HLA-DRB1*1501 was also shown to reduce the mean AO in both progressive and relapsing forms of the disease. An investigation of parent-of-origin effects indicated that the lower AO for HLA-DRB1*1501 patients arises from maternally transmitted HLA-DRB1*1501 haplotypes (maternal HLA-DRB1*1501 mean AO=28.4 years, paternal=30.3 years; P=0.009). HLA-DRB1*1501 exerts a modest, but significant effect on the AO of all forms of MS. Parent-of-origin effects at the MHC are further implicated in MS disease pathogenesis. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented regarding the ubiquity of Multiple sclerosis (MS) in immigrants of Iran to British Columbia, and Canada.

A letter to the editor is presented which discusses multiple sclerosis (MS) risk due to mother-child blood group incompatibility.