Abstract Session Objectives:
At the end of this session, participants will be able to:
- Identify ongoing research around the country.
- Communicate with colleagues from around the country.
- Promote research collaboration.
- Extend opportunities for members to discuss and examine research and clinical work in a supportive, collaborative environment.
10:30 – 12:00 p.m. | Abstract Session
Presenter: Zoe Lohn, MSc CGC CCGC, Genetic Counsellor, BC Cancer Agency Hereditary Cancer Program
Presenter: Adeline Cuggia, MSc, Genetic Counsellor, McGill University Health Centre
Presenter: Lara Reichman, MSc CCGC CGC, Genetic Counsellor, McGill University Health Centre; RI-MUHC
Presenter: Kalene van Engelen, MSc, Genetic Counsellor, University Health Network
Presenter: Grace Uwaila Ediae, HBSc, Research Assistant, Children’s Hospital of Eastern Ontario Research Institute
Presenter: Allison Sluyters, MSc CCGC CGC, Genetic Services Consultant, Blueprint Genetics
FRIDAY SEPTEMBER 13
8:30 – 10:00 a.m. | Abstract Session
Presenter: Kayla Flamenbaum, MS CGC, Genetic Counsellor, Prenatal Diagnosis & Medical Genetics, Frances Bloomberg Centre for Women’s and Infant’s Health, Mount Sinai Hospital
Presenter: Meredith Gillespie, Department of Molecular Genetics, University of Toronto
Presenter: Carly Pouchet, MS, Dynacare
Presenter: Rachelle Dinchong, MSc, Genetic Counsellor, University of Manitoba
Kim Gall, MSc CGC LGC, Clinical Liaison, Blueprint Genetics
Student Abstract Session Objectives:
At the end of this session, participants will be able to:
- Identify ongoing research being completed by students in the Genetic Counselling programs around the country.
- Communicate with colleagues from around the country and promote research collaboration.
- Extend opportunities for members to discuss and examine student research projects in a supportive, collaborative environment.
SATURDAY SEPTEMBER 14
8:40 – 9:40 a.m. | Highlighting Student Research – Abstract Session
Presenter: Alina Bielak, BSc, MSc, Genetic Counsellor
Presenter: Angela Krutish, MSc, Genetic Counsellor, Thunder Bay Regional Health Sciences Centre
Presenter: Ashleigh Hansen, MSc, Genetic Counsellor, University of British Columbia (Island Medical Program)
10:30 – 10:45 a.m.
Large Scale Group Genetic Counselling: A Novel Service Delivery Model
LOHN Zoe1, FOK Alexandra2, DEROCHER, Heather, RICHARDSON Matthew3, MUNG Sze Wing1, NUK Jennifer1, YUSON Jamie1, JEVON Mandy1, SCHRADER Kasmintan*1,4,5, SUN Sophie*1,6
1Hereditary Cancer Program, BC Cancer, Vancouver, B.C., Canada.
2Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, B.C., Canada.
3Department of Interdisciplinary Oncology, The University of British Columbia, Vancouver, B.C., Canada.
4Department of Molecular Oncology, The University of British Columbia, Vancouver, B.C., Canada.
5Department of Medical Genetics, The University of British Columbia, Vancouver, B.C., Canada.
6Division of Medical Oncology, The University of British Columbia, Vancouver, B.C., Canada.
Increased demand for hereditary cancer genetic services has led to growing wait times for non-urgent patients and is currently up to 2 years at the Hereditary Cancer Program (HCP) in British Columbia (BC). As a result, HCP has been piloting novel service delivery models to optimize efficiency and decrease wait times. The initiative presented here developed and piloted large scale group genetic counselling, whereby pre-test group genetic counselling (up to 50 patients per group) was compared to traditional one-on-one genetic counselling. All patients received a post-test one-on-one results session. To be included in this pilot, patients met provincial criteria for hereditary cancer risk assessment, had no personal history of cancer, had no prior genetic testing performed in the family, and had no living testable family member residing in BC or the Yukon. To date, 335 patients have been seen (171 in the group arm and 164 in the traditional one-on-one arm), 299 patients have provided samples for genetic testing, and 238 patients have been provided with their results. Six group sessions have been held (median group size: 26 patients). A small portion of patients (14%) declined participation in the group session because they preferred one-on-one genetic counselling. Patients in both arms showed high satisfaction with the majority of patients reporting that their expectations were met (97% group arm, 99% traditional arm), that they understood the information presented (99% group arm, 99% traditional arm) and that their questions were answered (82% group arm, 99% traditional arm). Preliminary results from this initiative indicate that large scale group genetic counselling is feasible and acceptable to patients at risk of hereditary cancer.
10:45 – 11:00 a.m.
Surveillance for Pancreatic Cancer for High-Risk Individuals: the MUHC Experience
Adeline Cuggia, George Zogopoulos
Pancreatic adenocarcinoma (PDAC) is an aggressive malignancy with a 5-year survival rate of 8%. This is partly because caused by around 80% of patients being diagnosed with advanced, unresectable disease, highlighting the need for good early detection methods. Despite efforts in the last decade, there are currently no proven clinical surveillance leading to early diagnosis and improved survival and prognosis in high-risk individuals for PDAC (HRI). Our research surveillance program aims to investigate whether a protocol consisting of biannual surveillance by imaging techniques (Magnetic Resonance Imaging and Endoscopic Ultrasound), blood test for cancer biomarker CA19-9 and follow-up clinical appointment can lead to improved survival and prognosis in HRIs. This presentation summarizes our surveillance experience and findings following 50 HRI under our surveillance protocol between 2013-2019 at the McGill University Health Centre.
11:00 – 11:15 a.m.
MIPOGG: The McGill Interactive Pediatric OncoGenetic Guidelines
MIPOGG is a new e-Health tool (app) to help oncologists rapidly determine which children with cancer could benefit most from a referral to cancer genetics. Questions are easily answered with information readily available after a new cancer diagnosis. With over 125 algorithms for different cancers occurring in children and teens, MIPOGG is also a helpful resource for genetic counsellors beginning in pediatric oncogenetics. This presentation will explain MIPOGG and invite participants to consider the impact of incorporating these new options into our practice more regularly.
11:15 – 11:30 a.m.
Assessing the psychosocial impact of cancer surveillance for at-risk individuals in the pediatric population
VAN ENGELEN Kalene1, BARRERA Maru2, WASSERMAN Jonathan D.3, RANDALL ARMEL Susan4, CHITAYAT David5, GALLINGER Bailey1, MALKIN David6, VILLANI Anita6
1Department of Clinical and Metabolic Genetics, The Hospital for Sick Children, Department of Molecular Genetics, University of Toronto, Toronto, Canada.
2Department of Psychology, The Hospital for Sick Children.
3Department of Pediatrics, Division of Endocrinology, The Hospital for Sick Children, University of Toronto.
4Division of Gynecologic Oncology, Princess Margaret Cancer Centre, University Health Network, Department of Molecular Genetics, University of Toronto.
5The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Department of Molecular Genetics, University of Toronto.
6Department of Pediatrics, Division of Hematology-Oncology, The Hospital for Sick Children, University of Toronto.
With increasing access to comprehensive genetic testing and the integration of paired tumour/germline genomic sequencing into oncology care, more individuals will be identified to carry germline pathogenic variants in cancer predisposition genes. Identifying at-risk individuals allows for the implementation of early cancer screening programs, which aim to detect pre-symptomatic, biologically low-grade or early-stage lesions. While cancer screening has the potential to improve patient outcomes, the psychosocial impact has not been well studied and is largely uncharacterized in the pediatric population.
Using a qualitative methodology, we explored the perspectives of parents of children who have a genetic predisposition to cancer, and the perspectives of adolescents themselves, about their experiences with cancer surveillance. We completed 20 semi-structured interviews of 11 parents and nine adolescents. Informed by grounded theory, thematic analysis was used to generate qualitative data. Transcripts of parents and adolescents were analyzed separately and then compared to see which themes overlapped between the two groups. Four major themes were identified to be shared among the two groups: resiliency, perceived personal utility of surveillance, challenges of surveillance and factors influencing surveillance experience. Participants felt that the benefits of surveillance outweighed the perceived challenges and that the worry surrounding surveillance is generally cyclical (i.e., the appointment acts as a reminder of cancer risk but is not a day-to-day worry). Both parents and adolescents expressed difficulties sharing or explaining information related to their condition and surveillance to those outside their immediate family system. This study identifies a need for psychological support embedded within the cancer predisposition surveillance clinic, particularly during the first year following diagnosis, and reinforces the need to develop resources to help families evolve a vocabulary to share and discuss their genetic condition and surveillance strategies with others.
11:30 – 11:45 a.m.
Optimizing the position of exome sequencing in the diagnostic process
EDIAE, Grace U.1, HARTLEY Taila1, EATON Alison1, BERNIER Francois2, MICHAUD Jacques3, DYMENT David A.1, Care4Rare Canada Consortium1, KERNOHAN Kristin D.1, BOYCOTT Kym M.1
1CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.
2Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
3Department of Medicine, Centre de Recherche du CHU Ste-Justine, University of Montreal, Montreal, QC, Canada.
Rare disease patients often experience a diagnostic process consisting of multiple specialist consultations and a variety of assessments spanning years before finding an accurate diagnosis; an experience often referred to as the diagnostic odyssey. In recent years, exome sequencing has proven to be an effective tool in providing efficient diagnoses to rare disease patients, resulting in the potential to avoid or shorten the diagnostic odyssey. However, as a costly investigation, there is pressure for care providers in the Canadian healthcare system to be judicious about use of this test, and there is insufficient evidence to inform optimal positioning of exome sequencing in the diagnostic process. We aimed to determine the diagnostic utility of exome sequencing at different time points in the diagnostic process.
We recruited 69 undiagnosed rare disease patients for exome sequencing from across Canada who were highly likely to have a monogenic disease associated with a high degree of genetic heterogeneity (as per the CCMG guidelines; Boycott et al., JMG 2015: 52: 431). Exome sequencing was performed and analyzed at the Children’s Hospital of Eastern Ontario. We captured participants’ reported phenotypes, family history, previous diagnostic tests and exome sequencing results. We classified patients into three tiers based on their previous involvement with the genetics clinic and previous diagnostic testing. Tier 1 comprised patients presenting to Medical Genetics for the first time and/or with no previous molecular testing (n=10). Tier 2 comprised those presenting to Medical Genetics for follow-up, having received negative results from the first set of investigations (n=28). Tier 3 comprised those followed by Genetics for >2 years and remain without a molecular diagnosis after a more extensive set of standard investigations had been completed (n=31).
The diagnostic yield (likely causative variants identified in known or novel genes) was 60% when exome sequencing was used as a first-tier test, 52% when used as a second-tier test, and 34% when used as a third-tier test. The yield as a 3rd tier test, while lower, is still remarkable, suggesting many patients who are easily “diagnosable” by exome sequencing are being missed by serial (and costly) testing strategies. Our data suggests that further consideration of exome sequencing as a first-tier test for complex rare disease patients is warranted. It has the potential to be cost effective through early diagnosis, while simultaneously reducing a patient’s diagnostic odyssey and providing opportunities for stream-lined specialist care, early interventions, reduced hospital visits and positive health outcomes. Care4Rare will continue to explore the diagnostic utility and positioning of exome sequencing with a larger dataset through the C4R-SOLVE initiative to gather evidence to inform and optimize clinical adoption.
11:45 – 12:00 p.m.
Genotype-first analysis of whole exome sequencing: diagnostic yield of exome trio testing including CNV analysis
SLUYTERS Allison, SCHLEIT Jennifer
Blueprint Genetics, Helsinki.
Objective: The use of whole exome sequencing (WES) continues to expand in clinical practice. Recently, NGS technologies have evolved to include the capability to detect copy number variants (CNVs). In addition, using a genotype-first analysis approach can help identify variants in genes that are strong candidates for explaining the patient’s phenotype.
Methods: To examine the utility of exome trio testing, we reviewed cases submitted from North American health care systems using an NGS platform capable of detecting >90% of single exon CNVs and approximately 99% of 5 exon CNVs. All cases were analyzed using a genotype-first approach to include potential candidate gene findings.
Results: Approximately 33% of trio cases had a pathogenic or likely pathogenic finding that was considered diagnostic. 14% of cases had a variant of uncertain significance (VUS) and another 8% of cases had a VUS that was considered a likely candidate to have its classification upgraded. 39% of cases were negative. Interestingly, 4.7% of cases had a CNV reported, despite chromosome microarray being commonly performed prior to exome analysis. Finally, 6% of cases had variants identified in novel candidate genes that were considered likely to explain the patient’s phenotype. For several genes including TLK2, PMPCB, FBXO11, SLC10A7, PPP1R21, and SYT1 additional information has become available since reporting which has established those genes as disease-causing and allowed for reclassification of the identified variants.
Conclusions: Overall, exome trio analysis is a powerful diagnostic tool that can be augmented by the inclusion of CNV detection and genotype-first analysis.
8:30 – 8:45 a.m.
Genetic counselling and patient decision-making in pregnancies conceived following mosaic embryo transfers
FLAMENBAUM, Kayla1, CHONG, Karen1, ROIFMAN, Maian1,2, MYLES REID, Diane1, MIRON, Ioana1, CHITAYAT, David1,2
1Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
2Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
As a result of higher resolution technologies, it has become more common to identify chromosomal mosaicism in embryos following in vitro fertilization (IVF) with preimplatantion genetic testing for aneuploidy (PGT-A). Although there is a current lack of long-term outcome data regarding mosaic embryos, patients are increasingly presenting to genetics clinics in pregnancies conceived via mosaic embryo transfer (MET). Here, we present three pregnancies following METs in order to explore patient-decision making and to make preliminary recommendations for patient care.
Case 1: Patient presented at 14 weeks, 6 days gestation in a pregnancy that resulted from the transfer of an embryo with a mosaic 11p15.5-14.1 deletion. The patient proceeded with detailed fetal ultrasounds at 15 weeks and 19 weeks gestation and amniocentesis for chromosomal microarray (CMA) and uniparental disomy (UPD) 11 studies. The results of these investigations were all normal. A postnatal examination was recommended.
Case 2: Patient presented at 24 weeks, 2 days gestation in a pregnancy resulting from the transfer of an embryo with a mosaic Xq11.1-q28 deletion. The patient had a previous normal 19 week detailed fetal ultrasound and declined amniocentesis following our counselling. CMA on cord blood and examination at 6 months of age were normal.
Case 3: Patient presented at 15 weeks, 5 days gestation in a pregnancy resulting from the transfer of an embryo with a mosaic 20q13.12-13.2 deletion. A detailed fetal ultrasound at 19 weeks gestation was normal and the patient declined amniocentesis. Postnatal CMA was normal and a postnatal examination was recommended.
Conclusion: Theses cases highlight the importance of genetic counselling in an emerging patient population. Although pregnancies following METs are often anxiety provoking and complicated by uncertainties, with appropriate counselling, each patient above was able to make unique decisions regarding testing that best reflected their values and desires. We specifically recommend genetic counselling in the first trimester so that all relevant prenatal screening and diagnostic testing options, particularly fetal ultrasound surveillance and amniocentesis (CMA +/- UPD studies), can be discussed and arranged if requested. Postnatal CMA +/- postnatal examinations may also be considered, especially if prenatal diagnosis is declined, as these investigations were reassuring for our patients (cases 2 and 3) and can help contribute to research on outcomes of METs.
8:45 – 9:00 a.m.
Underlying causes of fetal sex discordancy between NIPT and ultrasound: A case series review
POUCHET, Carly1, LEVY, Tess2, HODSON, Katherine1, PINHO, Stephanie1, JACOB, Karine1, FITZPATRICK, Jennifer2
1Dynacare, Laval, QC.
2McGill University Department of Human Genetics, Montreal, QC.
Non-invasive Prenatal Screening is a highly accurate screening test for the determination of fetal sex, with an accuracy of >99% (Mackie et al., BJOG, 2017). However, cases of discordant fetal sex between the NIPT result and ultrasound have been reported to occur. This is not only distressing to the expectant parent but can potentially be the result of a serious underlying condition, with medical implications for the current and future pregnancies. We describe nine cases of discordant fetal sex tested through our NIPT laboratory, as well as a large series of discordant cases (n=47) collected via an online survey, from genetics professionals using multiple NIPT platforms. Together, these cases illustrate the underlying biological and technical reasons for discordancy between NIPT and ultrasound for fetal sex. Importantly, the present data indicates there may be different implications for outcome depending on the direction of the discordance. In the survey series, cases which were identified as male by NIPT/female by ultrasound showed a higher rate of abnormal outcome (19/27 cases) than those identified as female by NIPT/male by ultrasound (6/20 cases). Biological explanations for the discordance described in cases of Male NIPT/Female US include vanishing twin, micropenis, sex reversal, androgen insensitivity and mosaicism, while outcomes in cases of Female NIPT/Male US included placental or fetal mosaisicm and sex reversal. This new data highlights the importance of not discounting the original NIPT result. Based on this data, we have proposed a suggested algorithm for follow-up when sex discordance between NIPT and ultrasound is identified.
9:00 – 9:15 a.m.
Educational resource requirements of healthcare providers offering prenatal screening
GILLESPIE Meredith K1,2, OKUN Nan3, RANDALL ARMEL Susan1,4, DOUGAN Shelley5, CHITAYAT David1,2,6, CARROLL June C7*, HAYEEMS Robin Z8,9*
1Department of Molecular Genetics, University of Toronto, Toronto, Canada.
2Division of Clinical and Metabolic Genetics, The Hospital for Sick Children.
3Department of Obstetrics and Gynaecology, Mt. Sinai Hospital.
4Division of Gynecologic Oncology, Princess Margaret Hospital.
5BORN (Better Outcomes Registry and Network) Ontario.
6The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital.
7Department of Family & Community Medicine, University of Toronto.
8Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute.
9Institute of Health Policy Management and Evaluation, University of Toronto.
Introduction: Since the introduction of Multiple Marker Screening (MMS) for aneuploidy in Ontario, prenatal genetic screening has become increasingly complex. This has affected quality and access to up-to-date counselling for pregnant people). Previous studies have found that health care providers (HCP) have difficulty understanding performance measures of prenatal screening (such as sensitivity and false positive rates), and in determining eligibility for and limitations of specific tests. To date, research has not determined the specific educational content and resource needs of Ontario HCPs.
Objectives: 1. Assess educational and resource needs of Ontario HCPs in the area of prenatal genetic screening. 2. Determine the most accessible mode of information delivery to inform Prenatal Screening Ontario’s (PSO) sustainable approach to provider education.
Methodology: A cross-sectional survey (one invitation followed by two reminders) was emailed to a convenience sample of Ontario obstetricians (OB), midwives (MW) and family physicians (FP) (n=901). The survey assessed HCPs’ confidence offering prenatal genetic screening, educational resource needs, and well as personal and practice demographics. Data were analyzed using descriptive statistics.
Results: To date, 152 responses have been received (response rate= 32% OB, 6% MW, 29% FP). Preliminary data show that HCPs report less confidence counselling on non-invasive prenatal testing (NIPT) (introduced in 2014), compared to traditional MMS. Most notably, 91% of HCP report confidence explaining the conditions screened by MMS, compared to 63% for conditions screened by NIPT. In addition, 91% of HCP report confidence explaining the MMMS test itself, compared to 76% for NIPT. As many as 62% of HCP report rarely/never accessing the PSO website for information, but going forward, 73% report that they are very/fairly likely to use resources similar to those currently available, such as targeted websites.
Conclusion: To provide a high-quality prenatal screening program, all HCPs must be well informed about the details of evolving prenatal screening options, and have continuous access to new information and guidelines as they become available. The results of our study suggest capacity-building efforts are warranted to boost provider confidence in some areas and that greater awareness about available resources is needed to ensure that providers can offer up-to-date patient-centered care.
9:15 – 9:30 a.m.
Reducing the psychosocial impact of a positive newborn screen for inborn errors of metabolism
Rachelle Dinchong1, Patrick Frosk1,2
1Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba.
2Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba.
Newborn screening (NBS) is standard practice for neonatal care in Canada and screens for over 20 inborn errors of metabolism (IEM). Education about NBS is meant to mitigate parental anxiety following an initial positive screen and reduce the inappropriate medicalization of children after a false positive result. 482 parents of children who had NBS done by Cadham Provincial Laboratory in Winnipeg, MB between 2011-2017 and who screened positive for an IEM were invited to participate in an online survey and follow-up interview. Although only 21 online survey responses were completed (5.06% response rate), this data allowed for a more detailed understanding of the demographic characteristics of the interviewed sample. 11 respondents completed semi-structured telephone interviews designed to identify how communication of a positive result and educational resources can be improved; explore how parents are accessing educational information about IEMs after being notified of their result; and determine when in the NBS process parents feel they will benefit most from these educational messages. Overall, participants felt that clinicians downplayed the significance of their result and provided them with limited information about the IEM. Immediately after being notified, parents sought information online as a source of comfort and wanted to learn more about the likelihood of a false positive result, follow-up process, prognosis of the IEM, and management guidelines. In hindsight, parents felt unaware of the potential outcomes of NBS because of a lack of education about the program prior to being notified of their result. Additionally, parents indicated that their local healthcare providers, emergency departments, and medical laboratories had inadequate knowledge about NBS which led to multiple redraws and unnecessary challenges in follow-up. Based on thematic analysis, evidenced-based strategies for improving the experience of a positive NBS result for inborn errors of metabolism are described.
9:30 – 9:45 a.m.
Copy number variants (CNVs) in inherited retinal disorders: results from genetic testing of over 2,700 patients
GALL Kim, GUIDUGLI Lucia, MEHINE Miika, TUUPANEN Sari, KAMPJARVI Kati, WELLS Kirsty, KANSAKOSKI Johanna, VALORI Miko, SAARINEN Inka, MUONA Mikko, SANKILA Eeva-Marja, MYLLYKANGAS Samuel, KOSKENVUO Juha W, ALASTALO Tero-Pekka
Blueprint Genetics, Helsinki.
Purpose: Retinal dystrophies (RD) include a heterogeneous group of disorders that damage the photoreceptors in the retina and cause visual impairment. Prompt and comprehensive genetic diagnosis of these disorders can assist in risk assessment measures, management of symptoms, and selection of the appropriate targeted treatment. To provide a comprehensive diagnosis, the genetic testing strategy needs to take into account sequence alterations, non-coding disease-causing variants as well as copy number variants (CNVs). The purpose of this study was to evaluate the rates and characteristics of CNVs in a cohort of 2754 patients tested using a comprehensive RD panel.
Methods: DNA from patients was sequenced by targeted OS-Seq using the Illumina NextSeq500 sequencing platform or the IDT xGEN Exome Research Panel using the Illumina NovaSeq platform. CNVs were detected by CNVkit and a deletion calling algorithm developed in-house.
Results: CNVs in 47 different genes consistent with the patient’s phenotype were reported as a primary finding in 128 out of 2754 (4.6%) cases. Of these, 63 (49.2%) were partial gene deletions, 32 (25%) were one exon deletions, 16 (12.5%) were whole gene deletions and 2 (1.6%) were a partial exon deletion. In addition, ten (7.8%) partial gene duplications, three (2.3%) whole gene duplications, one (0.8%) whole gene gain (CN>3), and one (0.8%) partial gene gain (CN>3) were identified.
The majority of CNVs (113, 88.3%) were either likely pathogenic or pathogenic, while 15 (11.7%) were variants of uncertain significance. Of the likely pathogenic and pathogenic CNVs, 94 (73.4%) were diagnostic: 66 (70.2%) in autosomal recessive genes, 17 (18.1%) in autosomal dominant genes, and 11 (11.7%) in X-linked genes. The USH2A, EYS and PRPF31 genes were enriched in CNVs compared to other genes. Notably, CNVs were identified also in genes in which CNVs are not commonly reported including ABCA4 and RPE65.
Conclusions: Overall, these results highlight the importance of a comprehensive genetic testing approach for the diagnosis of retinal dystrophies. We have identified CNVs ranging from one exon deletions to whole gene deletions in multiple genes. In addition, we have detected a relatively high percentage of copy number duplications that warrant further investigation.
9:45 – 10:00 a.m.
The Canadian genetic counselling workforce: perspectives from employers and recent graduates
GILLIES Brittany, COSTA Taylor, OH Tracey, SCOTT Jenna
Provincial Medical Genetics Program, University of British Columbia, Vancouver, BC.
There is a lack of research devoted to the Canadian genetic counselling workforce and opportunities post-graduation. Current and prospective genetic counselling students, graduates, employers, program directors, and funding agencies remain largely uninformed of trends in the job market. Therefore, the purpose of this study was to investigate both the experiences of recent Canadian genetic counselling graduates and employers of genetic counsellors in Canada. To our knowledge, this is the first study to examine employment trends, supply and demand, and hiring practices for Canadian genetic counsellors. To assess employment experiences, an online survey was distributed to Canadian genetic counselling graduates from the past 5 years and to employers with experience hiring patient-facing genetic counsellors in the past 3 years. Where possible, quantitative data were analyzed through descriptive statistics and logistic regression, and qualitative data were reviewed to identify common themes. Based on the experiences of 70 recent graduates and 22 employers of genetic counsellors, our findings suggest that there is a growth of employment opportunities in Canada, yet still an increasing and unmet clinical demand for genetic counsellors. Half of the surveyed employers reported hiring more or many more genetic counsellors compared to 3 years ago, and a majority (89%) reported a desire to hire at least one more genetic counsellor if funding was available. Graduates are also being hired in a timely manner, with 64% securing employment before graduation, 33% within 6 months of graduation, and no one taking longer than 1 year. The specialties in highest demand for genetic counsellors and the most common areas of practice for recent graduates include adult general, prenatal, and cancer. In conclusion, our findings suggest that for students and graduates, clinical demand is on the rise and training programs are preparing students well for the job market. For program directors, caution should be exercised when considering expansion of training programs until more funding and job opportunities become available. Employers of genetic counsellors can be reassured that the vast majority of employers across Canada are satisfied or very satisfied with recent graduates. Greater advocacy is needed to secure additional funding and continue the growth of employment opportunities to meet the clinical demand in Canada.
8:40 – 9:00 a.m.
The Landscape of Direct-to-Consumer Genetic Testing in the Canadian Genetics Clinic
BIELAK, Alina1,2, CHAD, Lauren2, ANDERSON, James3,4, LORENTZ, Justin5, SUTZO, Anna1,2, CHITAYAT, David1,2,6, WASIM, Syed7, SHUMAN, Cheryl1,2
1Department of Molecular Genetics, University of Toronto, Toronto, Canada.
2Division of Clinical and Metabolic Genetics, The Hospital for Sick Children.
3Institute for Health Policy, Management and Evaluation, University of Toronto.
4Joint Centre for Bioethics, University of Toronto.
5Cancer Genetics and High-Risk Program, Odette Cancer Centre, Sunnybrook Health Sciences Centre.
6The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital.
7Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital.
With effective marketing strategies and the decreasing cost of genetic testing, the uptake for direct-to-consumer genetic testing (DTC-GT) has been increasing. DTC-GT allows individuals to learn about their genetic traits, some of which are directly related to their health, without the involvement of a healthcare practitioner. Genetic counsellors are skilled in helping individuals understand and adapt to the outcomes of clinically indicated genetic testing. Several studies indicate that genetic counsellors are uncomfortable counselling consumers about DTC test results while also feeling a duty to provide this service. These studies were undertaken in the US healthcare setting and no published data exist regarding the perceptions of Canadian genetic counsellors towards DTC-GT referrals. The goal of this study is to: 1) assess the comfort Canadian genetic counsellors when providing genetic counselling to individuals about DTC-GT; 2) examine existing policies in Canadian genetics clinics regarding counselling for individuals who have accessed DTC-GT; and 3) investigate what individual counsellors believe to be the most important components of these policies. Data was collected using a quantitative survey with embedded qualitative components which was distributed to Canadian genetic counsellors via the CAGC and NSGC listservs. Responses were received from 62 genetic counsellors. Analysis of genetic counsellors’ responses indicated that 6.5% (4/62) of respondents have a positive general opinion about DTC-GT and 35% (22/62) are comfortable providing counselling on DTC-GT results. Knowledge about DTC-GT, the clinical utility of this testing, accuracy and validity of these tests and limited clinic resources were factors commonly cited as contributing to discomfort. Though only 7% (4/62) of respondents had a formal institutional policy on how to counsel these individuals, 90% (56/62) believed that having a policy would be beneficial. Genetic counsellors indicated that a policy would help ensure consistency in care. The key policy components selected by participants included guidance on when to repeat testing in a clinical laboratory and how to triage DTC-GT referrals. The results indicate Canadian genetic counsellors, generally do not feel comfortable counselling individuals on their DTC-GT results and believe that having a policy on how and when to provide counselling would be beneficial.
9:00 – 9:20 a.m.
“Once you have one, you will never want to go back”: A mixed methods exploration of the impact of genetic assistants on genetics service provision
KRUTISH, Angela, KELLY, Christine, HARTLEY, Jessica N
University of Manitoba, Winnipeg.
There is a recognized shortage of genetic counsellors (GCs), which translates to longer wait times and limited access to GC services. Over the past several years, GCs in clinical settings reported that about 25% of their time was spent on tasks other than clinical care. Based on the concepts of staff mix and skill management, the amount of time that GCs have to provide patient care could be increased by reassigning tasks that do not need specialized training to other staff. For this reason, some clinics and laboratories have integrated genetic assistants (GAs), non-clerical staff who perform “behind-the-scenes” tasks otherwise assigned to a GC. However, there is limited information about the true impact of GAs on genetics service provision. Accordingly, the aim of this study was to explore the impact of GAs using a mixed methods approach.
We included two groups in the study: 1) GAs who worked in a clinic or laboratory and 2) GCs, medical genetics residents, clinical geneticists, molecular geneticists, and administrative professionals who worked in a clinic or laboratory with a GA. We distributed a survey to GCs via the CAGC and NSGC e-mail listservs and relied on snowball sampling to recruit other participants. The survey included questions about the impact of GAs on roles/responsibilities and productivity; 100 individuals who worked with GAs completed these questions. The majority of respondents (75%) indicated that working with a GA reduces the number of roles and responsibilities that they have. Similarly, 87% of respondents reported that working with a GA allows them to spend more time on tasks that they have specialized training for. Approximately two-thirds of respondents felt that working with a GA allows clinical providers to see more patients and increases laboratory productivity. 93% of respondents reported that incorporating additional GAs in their work setting could increase productivity.
We also conducted semi-structured interviews with a subset of the GAs and GCs who participated in the survey. The interviews were analyzed using cross-case thematic analysis. Both groups explained that GAs provide support for the genetics service and “take on the burden” of tasks that would normally be assigned to GCs. Participants felt that reassigning such tasks to GAs allows GCs to make better use of their skillset. In turn, participants described increased productivity, a higher quality of patient care, and greater job satisfaction among GCs. Many GAs also had some degree of patient interaction, which they felt improved patient care. Given the impact of GAs, many GCs emphasized that they could not imagine working without GAs.
Taken together, the results from both the survey and the interviews support the assertion that GAs increase productivity in clinical and laboratory settings. Further research efforts could be focused on generating quantitative evidence about the impact of GAs.
9:20 – 9:40 a.m.
Exploring immigrants’ perceptions of genetic counselling
HANSEN, Ashleigh1, FRANKEL, Sid1, FAN, Charity2, HARTLEY, Jessica N1, AMARA, Francis1
1University of Manitoba, Winnipeg.
2Shared Health Program of Genetics and Metabolism, Winnipeg.
There has been a steady increase in immigration to Manitoba. It is well described that immigrants face barriers when accessing health care services, such as cultural differences, language fluency, lack of social supports, and difficulties in understanding health care providers. Moreover, unfamiliarity with Westernized health care systems limits their knowledge of the services available and can impact their health care seeking decisions, including pursuing genetic counselling. Currently, there is limited information on immigrants’ use of genetic counselling services, as well as the ways in which genetic counsellors can best provide care. Previous genetic counselling research explored similar topics but was limited to specific populations and/or genetic indications rather than the broad immigrant population. Our research aims to provide a rich description of recent immigrants’ perceptions of and experiences with genetic counselling services.
We conducted semi-structured exploratory interviews with new immigrants who were referred to the Genetics & Metabolism program in Winnipeg, Manitoba. Interviews explored immigrants’ thoughts and opinions about genetic disease, genetic testing, and genetic counselling services. Convenience sampling was used to select participants. A total of 8 participants were interviewed by telephone. Interviews were conducted until saturation of major themes was reached. Following data analysis, member-checking was completed with a subset of respondents.
Genetic counselling was unknown to most participants before their referral. Participants had varied levels of understanding of genetic concepts, possibly resulting from experience, health literacy, and education. All participants reported that they were satisfied with this service; most described satisfaction with the counselling style, thoroughness, and information provided. Participants discussed language barriers and reflected on how communication is essential to building trust. They conveyed a high level of trust in the Canadian health care system, especially as compared to their home country. Support systems were seen as necessary when starting a new life in Canada and managing a new or future diagnosis, however they can be difficult to cultivate. This research provides vivid descriptions of living with a genetic condition, caring for or supporting a relative with a condition, and perception of genetic conditions. Further, this study describes how individuals often combine the biomedical illness model and their personal level of faith or cultural background to understand disease causation – a delicate balance that can affect coping ability.
In summary, our findings support major themes as previously reported. They demonstrate a need to increase awareness about genetic counselling within the immigrant community and to provide more culturally appropriate support systems.