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Thursday November 3 | 10:30 a.m. – 12:00 p.m.

10:30–10:45 a.m.

Adolescent Decision-Making Regarding Secondary Findings In Whole Genome Sequencing

10:45–11:00 a.m.

Triple Positive NIPT: Lessons Learned

11:00–11:15 a.m.

Reflections on Teaching Psychosocial Complexity To Genetic Counseling Students

11:15–11:30 a.m.

“A Change in Perspective”: Exploring the Experiences Of Adolescents With Hereditary Tumour Predisposition

11:30–11:45 a.m.

Oncology-Based Testing: A Novel Service Delivery Model in British Columbia

11:45–12:00 p.m.

Prenatal Chromosomal Microarray – Experiences with Variant Analysis

Friday November 4 | 8:40 – 10:10 a.m.

8:40–8:55 a.m.

Creating a Resource To Support Families Of Children Living Without A Diagnosis

8:55–9:10 a.m.

A Review Of Genetic Diagnostic Detection Rate For Sudden Unexplained Deaths: “Natural” Is Not A Cause Of Death

9:10–9:25 a.m.

Prenatal Testing Practice: Mothers’ Experiences Of Continuing With A Pregnancy After Prenatally Receiving A Diagnosis Of Down Syndrome

9:25–9:40 a.m.

Prenatal Exomes – Are we ready?

9:40–9:55 a.m.

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray

9:55–10:10 a.m.

Parent’s Perception and Expectation On The Use Of CGH For The Assessment Of Their Children With Developmental Disorders




Thursday November 3 | 5:30 p.m. – 7:30 p.m.


Confirmation of tumor biomarker results in the germline


A snapshot of the CAGC’s Non-Clinical Community of Practice: the varying roles of non-clinical GCs in Canada


The GEC-KO website: online genomics education for primary care providers


A Case Report: Psychological sequelae of a diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) caused by the p.S358L mutation in TMEM43


Paediatric sudden cardiac death and a novel frameshift variant in RBM20 identified via Whole Exome Sequencing: Case report and review of the literature


A survey of tablet use in the field of genetic counselling in Canada and the U.S.A.


Casting a wider net: A comparison of the experiences and preferences of patients pursuing BRCA1/2 and multi-gene panel testing


Carrier screening program for Cree Encephalitis and Cree Leukoencephalopathy: Long-term knowledge and carrier status retention in high school students


Transition from pediatric to adult care for young patient with hereditary ataxia


An autosomal dominant case of hemophagocytic lymphohistiocytosis (HLH) due to a rare NLRC4 mutation


Integration of genetics into the assessment and management of cardiovascular risk: a report from a specialty lipids clinic in Southern Ontario


How the Quebec Rare Disease Information and Resource Centre can help patients (or not)?


Non-invasive prenatal testing: watch out for that mole!


Genetic Counselling Students’ Attitudes Toward Stress and Anxiety and their Help Seeking Behaviors

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Oral Presentation: Thursday November 3, 10:30–10:45 a.m.

Adolescent Decision-Making Regarding Secondary Findings In Whole Genome Sequencing


Background: Genomic testing is widely used to diagnose adolescent patients with suspected genetic conditions. Such testing is preceded by an educational component to support informed decision-making. Recent research suggests that adolescents benefit from participation in medical decision-making regarding their health care. However, little is known about adolescents’ understanding of the risks and benefits related to secondary findings (SFs) found in genomic sequencing. Identifying and understanding the factors that contribute to adolescents’ decision-making about SFs will inform new approaches to education and consent for adolescents undergoing genomic sequencing.

Objective: To explore factors that are important to adolescents in their decision-making process related to learning about SFs in genomic research.

Study Design: Using semi-structured interviews, we explored the experiences of adolescents, ages 12-19, in their decision to learn about SFs in the context of the whole genome sequencing (WGS) in a research setting. Adolescents were previously offered WGS to determine the molecular etiology of their chronic medical condition. Interview questions were used to assess adolescents’ understanding of SFs, awareness of the potential risks and benefits and the factors that adolescents consider when deciding to learn about SFs in genomic research.

Results: Eight adolescents, ranging from 12-19 years of age, of whom 7/8 opted to learn about SFs were recruited. Thematic analysis of the transcripts using constant comparative analysis was conducted. To date, three sets of factors have emerged as influential with respect to decision-making about secondary findings: familial factors, including family history and parental discussion; personal health history; perceived value of knowledge.

Conclusion: Preliminary results from the study suggest that adolescents’ personal health and family relationships impact their decision to learn about SF. This indicates the importance of exploring these factors with adolescents in the pre-test consent process for genomic sequencing.

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Oral Presentation: Thursday November 3, 10:45–11:00 a.m.

Triple Positive NIPT: Lessons Learned


Mount Sinai Hospital, Toronto.

We report an unusual case of a false positive Non-Invasive Prenatal Testing indicating an increased risk for fetal trisomy 13, 18 and 21 and normal number of sex chromosomes (XY). Chromosomal studies on amniocentesis, placenta and newborn were normal. Maternal NIPT was done 6 months after delivery and showed the same ?ndings (elevated cell free DNA from chromosomes 13, 18 and 21) with normal female sex chromosomes. These ?ndings raised the possibility of maternal malignancy and the dif?culties in genetic counselling in this situation are discussed in detail.

Additionally, the patient shares her perspective on the offer of NIPT, the manner in which her unusual NIPT results were disclosed, including being told she may have cancer and how she ?nally is able to move forward from her experience. Through her experience, she humbly reminds us of the importance of transparency not only in the limitations with regards to prenatal testing, but transparency in our own discomfort with uncertainty. She also reflects on whether genetic counsellors can adequately prepare patients for unexpected findings.

Conclusion: This case not only highlights the appeal of NIPT f or reassurance for couples who wish to be prepared regarding the possibility of Down syndrome in a pregnancy but underscores the anxiety unexpected and unusual results can create particularly when the clinician is unable to provide concrete explanations for them despite thorough and anxiety provoking follow-up.

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Oral Presentation: Thursday November 3, 11:00–11:15 a.m.

Reflections on Teaching Psychosocial Complexity To Genetic Counseling Students

SHUGAR, Andrea1,2

1University of Toronto, Department of Molecular Genetics, Toronto. 2The Hospital for Sick Children, Division of Clinical & Metabolic Genetics, Toronto.

Genetic counseling has been described as unique form of psychotherapy, in which the communication of genetic concepts plays a central role. The view that the genetic counsellor’s role is as much “counselor” as it is “information-giver” has been endorsed by the profession for several decades now. Despite a universal philosophical acceptance that addressing psychosocial concerns is core to genetic counseling practice, the literature demonstrates there is insufficiency in its application. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them to integrate advanced counseling skills into their practice. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psychosocial goals. The speaker shares her personal experience with teaching psychosocial skills in a Master’s level genetic counselling training program. She presents the Genetic Counseling Adaptation Scale and teaching methodology that she developed to guide students in their application of advanced counseling skills. Concepts of psychosocial complexity, adaptation and psychosocial goals are presented and defined. Case examples to illustrate the application of this tool are presented.

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Oral Presentation: Thursday November 3, 11:15–11:30 a.m.

“A Change in Perspective”: Exploring the Experiences Of Adolescents With Hereditary Tumour Predisposition

WEBER Evan1,2, SHUMAN Cheryl1,2,3, WASSERMAN Jonathan D.4, BARRERA Maru5,6,
PATENAUDE Andrea F.7, FUNG Karen8, CHITAYAT David1,2,9, MALKIN David6, DRUKER Harrier1,3,6

1Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. 2Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada. 3Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON Canada. 4Division of Endocrinology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada. 5Department of Psychology, The Hospital for Sick Children, Toronto, ON, Canada. 6Division of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, Toronto, ON, Canada. 7Department of Psychosocial Oncology and Palliative Care, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA. 8Department of Social Work, The Hospital for Sick Children, Toronto, ON, Canada. 9Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

Hereditary tumour predisposition syndromes are being more frequently recognized in the context of paediatric neoplasms. As more adolescents are identified with hereditary tumour predisposition, insight from their experiences can guide the provision of health care including genetic counselling. Previous research indicates that disclosure of tumour susceptibility is a significant event in adolescents’ lives. This study explored the lived experiences of adolescents with hereditary tumour predisposition and their perceptions of living at risk. Adolescents were sampled purposively to include those with paediatric-onset hereditary tumour predisposition syndromes, irrespective of personal or family history of tumours. Seven adolescents (ages 14 to 17) with five different syndromes were interviewed by telephone or in person using a newly developed semi-structured interview guide. We explored the disclosure process, support systems, and the benefits and harms of knowledge of tumour susceptibility. Interviews were transcribed, and analyzed via interpretive description. Four major themes emerged from the data: 1) The benefits of knowing about tumour susceptibility outweigh the harms; 2) A change in life perspective and choices made with respect to the future; 3) Perceptions shaped by the disclosure process within one’s health and family contexts; 4) Self-concept is not defined by tumour risk. We conclude that adolescents recognize the challenges associated with awareness of tumour predisposition, but may also identify positive aspects in their experiences. Results of this study can guide pre- and post-test genetic counseling of adolescents for hereditary tumour predisposition syndromes, facilitating the incorporation of this genetic information into an adolescent’s self-concept in an adaptive manner.

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Oral Presentation: Thursday November 3, 11:30–11:45 a.m.

Oncology-Based Testing: A Novel Service Delivery Model in British Columbia

Lohn Z, McCullum M, Nuk J, Turner K, Cremin C, Portigal-Todd C, Scott J, Thompson J, Louie K, Thomas R, Bedard A, Mindlin A, Nevay D, Heidary N, Petersen T, Taylor M, Mitchell G, Aubertin G, Tucker T, Bosdet I, Young S, Karsan A, Sun S and Schrader K

In response to a growing waiting list and increasing indications to guide treatment decisions, the Hereditary Cancer Program (HCP) launched a novel oncology-based service delivery model in British Columbia in November 2015. The traditional HCP model is to provide pre-test and post-test genetic counselling to individuals who meet established provincial criteria for hereditary cancer syndromes. Oncology-based testing was introduced for index BRCA1/2 cases using a multiplex hereditary cancer panel testing approach for patients eligible based on their personal history of non-mucinous epithelial ovarian cancer, invasive breast cancer diagnosed prior to or at 35 years, or ‘triple negative’ breast cancer diagnosed prior to or at 60 years. This model has involved: 1) education of oncologists to provide pre-test counselling and consent eligible patients; 2) a patient education session with a genetic counsellor or designate; 3) a post-test results session with a genetic counsellor. As of July 2016, 23 patients have completed testing using this new process, 4 (17%) have been found to carry a pathogenic or likely pathogenic variant. Our preliminary results indicate that oncology-based testing is feasible, optimizes genetic counselling resources, and provides test results in a timely manner. Evaluation of the benefits and limitations of oncology-based testing is ongoing to ensure quality clinical care. We will present our rationale for introducing oncology-based testing, an overview of the model, discuss advantages and challenges, and review our experience.

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Oral Presentation: Thursday November 3, 11:45–12:00 p.m.

Prenatal Chromosomal Microarray – Experiences with Variant Analysis

WATKINS Nicholas1, LEONG Kai Xuan1, MUHAMMAD Saad1,2, VLASSCHAERT Matthew1, NOOR Abdul1,2, KOLOMIETZ Elena1,2

1Mount Sinai Hospital, Pathology and Laboratory Medicine. 2University of Toronto.

Chromosomal microarray analysis is utilized to detect micro-deletions and duplications throughout the genome. Although it is recommended and well accepted as a first tier test in a pediatric population with developmental delay, multiple congenital anomalies and autism, the utilization of this technology in a prenatal context is still developing. We have performed prenatal microarray as an option for all pregnancies undergoing invasive procedures including both amniocentesis or chorionic villus sampling. From July 2015 to May 2016 inclusive, 1056 prenatal microarray results were analyzed, 952 cases were reported as normal and 104 case had a copy number variant (CNV) identified that was reported. Of these, a total of 74 pathogenic variants were identified. Level one analyses includes determining any CNVs that are have been well described as benign or pathogenic. Level two analyses involve a thorough assessment of CNVs that are unique to our laboratory and their pathogenicity is not immediately clear. CNV analysis requires detailed review of gene content, public databases and the literature along with phenotypic information in order to determine pathogenicity. Of the pathogenic variants, 28 were unique to our laboratory and required further review to determine pathogenicity. An additional 30 variants were reported as variants of uncertain significance (VUS,) including 15 that were likely pathogenic and 15 that were reported as a preliminary result requiring parental sample analysis. Of all the prenatal microarrays performed, 105 variants representing 85 cases (8.0%) required level two analyses, 28 variants representing 21 cases (2.0%) were pathogenic, 7 cases (0.7%) had two pathogenic variants identified, 27 cases (2.6%) had a VUS, including 3 cases with two VUSs identified. Our reporting guidelines are based on published guidelines and reporting variants in a prenatal context is considered on a case by case basis, often including review with the referring clinicians. Herein we further describe our experience with prenatal microarray and describe two cases where VUSs were identified.

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Oral Presentation: Friday November 4, 8:40–8:55 a.m.

Creating a Resource To Support Families Of Children Living Without A Diagnosis

LYNCH, Kelsey1, THOMPSPON, Jennifer2, PATEL, Millan3; University of British Columbia, Department of Medical Genetics

1Providence Health Care Research Institute, Vancouver, BC. 2Provincial Health Services Authority, Hereditary Cancer Program. 3University of British Columbia, Department of Medical Genetics.

Objectives: When lacking a specific diagnosis for their child, parents often do not know where to turn for support and information. Our study focused on the following research questions: 1) what are the unique experiences of parents of children living without a diagnosis within Canada’s rare disease community? 2) what information and resources do parents of children living without a diagnosis feel are beneficial to families beginning a diagnostic journey? We aimed to capture the experience of living without a diagnosis and translate these challenges and successes into a useable online and paper-based resource for other families.

Methodology: We collected feedback on our two research questions via an online questionnaire and semi-structured interviews with 12 parents who have a child with a combination of health and/or learning challenges and a suspected genetic condition or syndrome, but no underlying diagnosis established. The online questionnaire assessed the relative importance of key issues regarding support for parents of children without a diagnosis. The follow-up semi-structured interviews focused on their diagnostic journey and advice that they would offer to other parents at the beginning of their experience. The content of the first draft of the resource was informed by key issues from the questionnaire that were rated as being pertinent by parent participants, as well as by issues or themes identified by parents, from the interviews. Next, parents of undiagnosed children were invited to participate in a focus group to review and further develop the resource. After incorporating feedback from the focus group, the next draft was reviewed by healthcare providers, with specialized experience working with families with rare and undiagnosed conditions, including genetic counsellors, geneticists, pediatricians and a nurse. An anthropologist and a children’s book author also provided feedback.

Summary of Results: Using content analysis, we identified five recurrent themes from our interviews with parents: 1) role of a support network with other parents, 2) dynamics of a healthcare team, 3) value of a diagnostic label, 4) personal knowledge and 5) acceptance. The final draft of our information resource was developed based on our findings to help families understand and better manage their diagnostic journey, by providing tools to promote empowerment, support and advocacy.

Conclusion: To our knowledge, this is the first study aimed at creating an information resource for families of children living without a diagnosis, within Canada’s rare disease community. Once the resource has been launched on the Rare Disease Foundation website, in the Fall of 2016, we hope it will be widely used by hospitals, health organizations and rare disease family support groups.

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Oral Presentation: Friday November 4, 8:55–9:10 a.m.

A Review Of Genetic Diagnostic Detection Rate For Sudden Unexplained Deaths: “Natural” Is Not A Cause Of Death

BARTELS, Kirsten1; HATHAWAY, Julie1; DEGRAAF, Ashley2; ENS, Connie3; LAKSMAN, Zachary1; LAUSON, Samantha2, LEATHER, Richard4; LEHMAN, Anna5; MELLOR, Gregory1; SANATANI, Shubhayan3; SEIDMAN, Michael1; SHERWIN, Elizabeth3; KRAHN, Andrew1; ARBOUR, Laura2

1St. Paul’s Hospital. 2Victoria General Hospital. 3BC Chidlren’s Hospital. 4Royal Jubilee Hospital. 5BC Women and Children’s Hospital.Presenter Institution: BC Inherited Arrhythmia Program, St. Paul’s Hospital, Vancouver BC.

Background: Retaining post-mortem tissue (blood, blood spot or frozen tissue) for the purposes of genetic testing in cases of sudden unexplained death (SUDS) is an internationally published, class I recommendation. However, retention of adequate post-mortem tissue has not yet become a routine practice in many jurisdictions. Recent evidence demonstrates the diagnostic yield of molecular autopsies performed in SUDS cases increases with the use of broader cardiac gene panels, with a yield of up to 27 %. We report on the diagnostic rate in cases of SUDS through both molecular autopsy and familial cardiac evaluations through the BC Inherited Arrhythmia Program (BCIAP) as well as implications for family members.

Methods: A retrospective chart review of families referred to the BCIAP for investigation of SUDS in a first degree relative was performed (ages 1-35). Age of death, type of post-mortem tissue available and results of genetic testing (post-mortem and in living relatives) were collected.

Results: The BCIAP received referrals for 32 SUDS cases from 2013 to 2016. Twenty-four (75%) occurred in British Columbia (BC) and of those, 18 (75%) occurred after the BCIAP began operation in 2013. Genetic testing was indicated in 23/24 cases (1 case was determined to be a medication overdose); in these, cardiac evaluations were performed in 51 first degree relatives, none of which led to a definite diagnosis. Of these cases, 15 (63%) had frozen post-mortem tissue available (deaths between 2009-2015), 6 (27%) had only formalin fixed paraffin embedded (FFPE) tissue (deaths between 2006-2015), and the status of retained tissue could not be determined in 2 cases. Broad panel genetic testing was performed on 12 of the 15 (80%) cases where frozen tissue was retained. Sequencing was carried out using commercially-available panels from 2 companies (10 genes, n=3; 47 genes, n=7; 133 genes, n=2). A pathogenic or likely pathogenic variant was identified in 2/12 cases (17%). In cases with only FFPE material, broad panel testing could not be robustly performed, but a suspected inherited arrhythmia was identified in 3/6 (50%) living relatives. In these family members, panel genetic testing (7 genes n=2; 47 genes n=1) identified a causative variant in 1 case (33%). Overall, a genetic diagnosis was made in 3/23 families (13%). Cascade screening was performed in 11 relatives from these 3 families and beta-blocker therapy was initiated in 5 genotype positive relatives.

Conclusion: The use of post-mortem genetic testing alone revealed an actionable gene variant in 17% of SUDS cases, which is lower than previously published. Concurrent evaluation of family members can increase the yield of the post-mortem investigation of SUDS. Further evaluation of the BCIAP approach to SUDS is warranted to optimise the diagnostic rate through appropriate tissue retention and use of more comprehensive genetic testing.

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Oral Presentation: Friday November 4, 9:10–9:25 a.m.

Prenatal Testing Practice: Mothers’ Experiences Of Continuing With A Pregnancy After Prenatally Receiving A Diagnosis Of Down Syndrome

p class=”style12n” style=”margin: 0px;”>ASGAROVA, Sevinj; STAINTON, Tim; AUSTIN, Jehannine; HOLE, Rachelle

University of British Columbia; Vancouver, BC.

Using social constructionism and interpretive description, the study explored Canadian mothers’ experiences of continuing with a pregnancy after prenatally having received a screen-positive result or a definitive diagnosis of Down syndrome for their babies. 23 interviews were conducted with mothers in British Columbia (n=11) and Ontario (n=12). Currently, their children’s ages span 4 months to 5 years.

Three primary categories emerged from the data analysis: prenatal testing/decision making by mothers, the adjustment process to the diagnosis and postnatal experiences. The first phase was concerned with the mothers’ prenatal testing experience in which they became aware of their child’s diagnosis, their initial reactions, as well as their decision-making. In the second component, mothers reflected on the adjustment process, and discussed what they considered to be some of the more difficult aspects as well as some of the joys of their pregnancy. The third phase focused on postnatal support and the mothers’ resistance to the common perception of having a child with DS.

Interaction with medical professionals was a primary theme reported by the participants having had a critical impact on their experiences through all three components, both negatively and positively. However, reported negative incidents were overrepresented, in particular for their prenatal experiences. The majority of mothers in both provinces reported three main areas of dissatisfaction during the prenatal experience by medical personnel. Firstly, the manner of delivering the news was very cold, insensitive, and expressed in scientific language, which many found too difficult to understand. Secondly, inconsistency in describing all testing options available (including NIPT) and lack of detailed and balanced information while outlining the strengths and limitations of these options. Finally, insistence on terminating the pregnancies, the lack of accurate and current information about DS, insensitive terminology and the lack of provision of up-to-date printed materials or referral to other parents helped to create a negative prenatal experience.

Some medical professionals, counseling in relation to the possibility of false positive results of prenatal screening, had encouraged some mothers to downplay the possibility of having a child with DS. This resulted in an increased risk for depression and post-traumatic stress in some women after the birth of the child.

Mothers reported that prenatal knowledge of the diagnosis of DS allowed both themselves and healthcare team to be better prepared for the birth of the child, which enhanced their postnatal experience as compared to their prenatal experience. However, there were instances that physicians questioned their decision of continuing their pregnancy during their postnatal experience.
The study results offer considerable implications in terms of the prenatal and postnatal counseling information provided to mothers at risk of having a child with Down syndrome.

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Oral Presentation: Friday November 4, 9:25–9:40 a.m.

Prenatal Exomes – Are we ready?


Mount Sinai Hospital, Toronto.

Over the last few years there have been rapid changes in the world of prenatal diagnosis and screening. We have seen the heavily marketed non-invasive testing prenatal testing for aneuploidy dramatically impact our counselling and uptake of invasive procedures. We now quote a reduced risk of miscarriage associated with amniocentesis and in many centres microarray has replaced fetal karyotyping…so many changes in such a short period of time. Exomes, having now well established their utility in the pediatric and adult setting, are the new horizon…but are we ready? Or is it time to pause?

I will present some case examples of whole exomes studies performed on stillbirths/terminations for cases of multiple congenital anomalies as well as prenatal cases -exploring some of the complex counselling scenarios as well as lessons learned. Prenatal exome, like microarray before it is coming and coming fast, so we need to prepare ourselves and be thoughtful in our approach.

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Oral Presentation: Friday November 4, 9:40–9:55 a.m.

Informed Decision-Making in the Context of Prenatal Chromosomal Microarray

BAKER Jessica1,2, SHUMAN Cheryl1,2, CHITAYAT David1,2,3, WASIM Syed4, OKUN Nan3, KEUNEN Johannes3, HOFSTEDTER Renee3 and SILVER Rachel3

1Department of Molecular Genetics, University of Toronto MSc Program in Genetic Counselling, Toronto, ON, Canada. 2Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. 3Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada. 4Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON, Canada.

Background: In January of 2015, following the Canadian Consensus Conference at The Hospital for Sick Children (October 2014; Toronto, Ontario), Mount Sinai Hospital (Toronto, Ontario) adopted chromosomal microarray analysis (CMA) as the new standard of care for prenatal diagnosis of chromosome abnormalities. The introduction of CMA into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g. adult onset conditions and copy number variant’s of uncertain clinical significance). These issues are typically discussed and explored in pre-test counselling for pregnant women to support informed decision making regarding prenatal testing options.

Aims: This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and to determine what factor(s) influenced each patient’s decision to accept CMA for their selected prenatal testing approach (i.e. chorionic villus sampling (CVS) or amniocentesis).

Methods: We employed a questionnaire that was adapted from a three-dimensional measure previously used to assess the extent of informed decision-making with respect to prenatal screening for Down syndrome and neural tube defects. This measure classifies an informed decision as one that is knowledgeable, value-consistent, and deliberated. Our questionnaire also included an optional open-ended question soliciting factor(s) that may have influenced the patient’s decision to accept prenatal CMA; these responses were analyzed qualitatively.

Results: 106 patients who decided to have amniocentesis or CVS and were offered prenatal CMA completed the questionnaire. Data analysis indicated that 62% were ‘knowledgeable’ about prenatal CMA; 86% of the decisions were ‘deliberated’; and 94% of the decisions were value-consistent. Overall, 49% of the participants made an informed decision (i.e. meeting all three criteria of knowledgeable, deliberated and value-consistent). Fifty-nine of the 106 participants answered the optional open-ended question. Of these, 30 (51%) were classified as having made informed decisions. When the responses to the open-ended question were analyzed, “the more information the better” emerged as the dominant factor influencing both informed and uninformed patient’s decisions to accept an offer for prenatal CMA.

Conclusions: Despite learning about the key issues in pre-test genetic counselling, our study classified a significant portion of women as making uninformed decisions due to insufficient knowledge. A smaller proportion of women were classified as making uninformed decisions due to lack of deliberation, value-inconsistency or a combination of these three measures. Future efforts should focus on developing educational approaches to effectively increase the rate of informed decision making among women offered prenatal CMA.

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Oral Presentation: Friday November 4, 9:55–10:10 a.m.

Parent’s Perception and Expectation On The Use Of CGH For The Assessment Of Their Children With Developmental Disorders

GRONDIN Steffany, TREMBLAY Isabelle, COUSINEAU Dominique, LEMYRE Emmanuelle, ROWAN Anita, CARMANT Lionel, LABERGE Anne-Marie, JANVIER Annie

CHU Sainte-Justine, Montréal

Background: Comparative genomic hybridization (CGH) has become the gold standard of care in the investigation of children with developmental disorders. In fact, these genetic investigations can identify 20-35% of cases. This practice now raises questions in terms of clinical and ethical issues, as for example the informed consent about the possible results and their familial and clinical impact. Indeed, there are four different results that can be obtained: normal (no abnormal findings), abnormal that explains the patient’s condition, variant of uncertain signification (VUS) or incidental findings. Each of these results has a different impact on the family and on the patient’s care. In an ethical point of view, it is important to give all the information a parent needs to know before consenting to genetic testing. Psychosocial impacts can also occur on these families during and after the process of genetic testing.

Objectives: To explore parental perspectives regarding the impacts of the CGH on their child and family as well as their understanding of genetic testing.

Methods: (ongoing study) More than 33 parents of children with developmental delay or autism were interviewed in the month following genetic testing (CGH). They were being asked about the impacts of genetic testing on their child and their understanding of CGH. The parents were also being asked about their feelings in regard of genetic testing. Each interview lasted twenty minutes and was recorded. A thematic analysis was performed using Excel and SPSS software. A comparison of the data coding was performed to obtain inter-judge agreement of over 80%. Statistical analyzes were based on a mixed methodology which involves quantitative and qualitative data.

Results: (preliminary results) A minority of parents (27.2%) remembered that genetic investigation (CGH) took place and half (45.5%) reported moderate to severe anxiety regarding genetic testing. When asked about their expectations, 39.4% of the parents reported that an abnormal genetic result that would explain their child’s developmental disorder would be helpful for the family but 54.5% of the parents mentioned that an abnormal result of uncertain significance would be the worst possible result.

Conclusion: Many parents have difficulties understanding genetic testing. Furthermore, it seems to be anxiogenic for many families. However, many parents report that an abnormal result explaining the developmental disorder would be beneficial.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-301 Confirmation of tumor biomarker results in the germline


GeneDx, Gaithersburg, Maryland, United States

Objectives: Biomarker testing, including tumor sequencing, is becoming integral for personalized cancer care. Utilization includes guiding therapeutic treatment with FDA-approved or off-label drugs, prognostic prediction, clinical trial enrollment, and tumor result clarification. Although tumor next-generation sequencing (TNGS) intends to identify actionable somatic alterations, results from tumor-only or circulating tumor DNA (ctDNA) analysis may contain both somatic and germline variants, which cannot be differentiated without additional testing. We aim to determine the extent to which variants identified by biomarker testing are confirmed to be germline at a clinical molecular diagnostic laboratory.

Methods: We retrospectively reviewed all cases submitted for germline analysis by either a next-generation sequencing panel, single gene testing or targeted variant testing, for which prior biomarker testing was completed at an outside laboratory indicating a variant in an inherited cancer susceptibility gene.

Results: Fifty-three individuals underwent germline testing, at least in part, as a result of one or more variants being detected in a variety of genes by biomarker testing of the patient’s tumor or ctDNA. Three cases were excluded from analysis as the variant of interest was either not specified or the gene of interest was not included in the panel ordered. The majority (32/50, 64%) of tumors were an inherited gastrointestinal (GI) syndrome-associated cancer and 34% (17/50) were a hereditary breast-ovarian cancer syndrome (HBOC)-associated cancer with 11 cancers overlapping both syndrome spectrums. In almost half of the cases (23/50; 46%), at least one variant found in the tumor was found to be present in the germline, including 19 pathogenic/likely pathogenic variants, 1 variant of uncertain significance and 3 benign polymorphisms. Forty-seven percent (15/32) of GI tumor variants and 7/17 (41%) HBOC tumor variants were found to be present in the germline.

Conclusions: Overall, almost half of variants identified by biomarker testing were confirmed in the germline. In addition, 3 variants identified by TNGS were classified as benign germline polymorphisms, cautioning against extrapolating variant classifications from biomarkers to the germline since classification objectives and processes differ. Future research is needed to help clinicians distinguish when germline testing for a tumor biomarker result may be warranted.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-302 A snapshot of the CAGC’s Non-Clinical Community of Practice: the varying roles of non-clinical GCs in Canada

VANNESTE Rachel1, LITTLE Leichelle2

1PreventionGenetics, Saskatoon, SK. 2Children’s Hospital of Eastern Ontario, Ottawa, ON.

Increasingly, genetic counsellors are taking on non-clinical roles within both public and private related health institutions. The CAGC non-clinical Communities of Practice (CoP) is a newly formed network of Canadian genetic counsellors (GCs) who are working in non-clinical roles such as education, administration, marketing, consulting and research. The idea behind this CoP was to connect GCs, across the country, who perform these duties as part of their profession.

A needs assessment was performed for the non-clinical CoP members via a 14 item questionnaire. The primary aim of the questionnaire was to gain a better understanding of the job titles and roles, as well as what they perceive as the main goals and objectives for the community. A total of 22 out of 25 (88% response rate) CoP members completed the survey.

The 22 respondents described various roles in education, industry, including sales and report writing, research, laboratory and public policy. All but one respondent indicated that 75% or more of their time was spent on non-clinical roles, with 13/22 indicating that 100% of their jobs involved non-clinical duties.

As per their motivation for joining the CoP and their desired objectives for the community, the overwhelming response was a desire to network and connect with other GCs who also performed non-clinical roles. Interestingly, a few respondents described wanting to further expand their role into the non-clinical setting and that being a member of the community might allow them to learn from the experiences of other community members.

Many respondents also described a desire to grow the profession into the non-clinical realm and to educate GCs in clinical roles about the varying duties that their training has equipped them to perform. In addition, some respondents indicated a desire to participate in the training and supervision of genetic counselling trainees, specifically to enhance the students’ exposure to the varied non-clinical roles that they might perform after graduation.

Given the growing number of GCs performing non-clinical roles in the profession, the non-clinical CoP will serve as an important tool to connect these CAGC members, keep the CAGC membership as a whole informed of what roles we are able to fill and will provide a voice for the growing number of non-clinical GCs in Canada.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-303 The GEC-KO website: online genomics education for primary care providers


1Children’s Hospital of Eastern Ontario, Ottawa. 2Sinai Health System, University of Toronto, Toronto.

Background: Needs assessments consistently show that to facilitate the integration of genomic medicine into primary care (PC), relevant, concise, evidence-based, up-to-date PC-specific resources are essential. The GEC-KO website (Genetics Education Canada-Knowledge Organization www.geneticseducation.ca) went online in late 2013 to provide this type of resource for PC providers.

Objective: To describe the resources on the GEC-KO website and provide analytics which examine pattern of use.

Methodology: PIWIK and Google analytics were used to assess site use since launch by comparing access during the first 6 month interval (Int1: Nov 1, 2013 to April 30, 2014) to the most recent 6 month interval (Int2: Jan 1, 2016 to June 30, 2016). Int2 was interrogated more closely to explore access of site content.

Results: The GEC-KO website products include evidence-based peer-reviewed point-of-care (POC) tools, summaries of genomic topics, genetics referral, testing and surveillance guidelines, genetics clinics contact information and education modules. Site access increased from 685 visits/2,445 page views (PV) during Int1 to 2,465 visits/4,816PV during Int2. Users increasingly accessed the site via a search engine e.g. Google (14.7% in Int1 vs 64.8% in Int2), and less often through another site e.g. entry via Ehlers-Danlos Syndrome Canada (39.0% in Int1 vs. in 9.5% in Int2), or by directly typing the web URL (46.3% in Int1 vs 25.9% in Int2). Users continue to be mostly Canadian (77.1% in Int1 and 72.3% in Int2) and American (9.5% in Int1 and 11.2% in Int2). In the past six months (4,816PV) the highest traffic section was Educational Resources (36.1%, 1,739PV). Of these, the most accessed were GEC-KO on the run, ~2 page evidence-based summaries of genomic topics (1,198PV; favorite topics were non-invasive prenatal testing (NIPT) (713PV) and chromosomal microarray (67PV)), and GEC-KO Messenger, more detailed reviews of genomic topics (333PV; favorite topics were consanguinity (184PV) and hereditary breast and ovarian cancer (88PV)). Contact information for genetics centres (19.1%, 918PV) was the next most visited section followed by POC tools (6.6%, 318PV), particularly tools on family history (110PV) and hereditary cancer (90PV)). During Int2, 511 items were downloaded (e.g. PDFs, PowerPoint presentations). The top three were NIPT with microdeletion education module (7.6%), NIPT GEC-KO on the run (6.5%) and POC family history tool (5.9%).

Conclusions: Early results show sustained increase in users accessing these PC genomics resources. Efforts to increase GECKO’s ranking on internet search engines have been successful, however a formal launch is needed to broadly promote awareness of the site. Users are accessing both new (e.g. NIPT) and traditional (e.g. consanguinity) genomic medicine topics. We plan to further evaluate these resources and whether they change practice and patient outcomes.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-304 A Case Report: Psychological sequelae of a diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) caused by the p.S358L mutation in TMEM43

PREDHAM, Sarah1; DWYER, Christopher2; HODGKINSON, Kathleen1,3

1Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John’s, NL. 2Undergraduate Medical Education Program, Faculty of Medicine, Memorial University of Newfoundland. 3Clinical Epidemiology, Faculty of Medicine, Memorial University of Newfoundland.

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an autosomal dominant condition associated with ventricular tachycardia, heart failure and sudden cardiac death (SCD). In the Newfoundland population, the TMEM43 p.S358L mutation causing ARVC occurs at a high incidence due to a founder effect. The phenotype associated with this mutation is sex influenced: untreated males die at a median age of 40, compared with a median age of 67 years in untreated females. An implanted cardioverter defibrillator (ICD) is the only effective treatment to prevent SCD: it continuously monitors heart rhythm in recipients and provides an electrical discharge to return a malignant cardiac rhythm to sinus rhythm.

A number of studies have looked at mental illness and psychological wellbeing in cohorts of older patients with ICD’s (generally the recipients of these devices), and found psychological sequelae in the form of anxiety, depression and post traumatic stress disorder. Psychological manifestations are also known to occur in long term chronic disease. The sequelae of mental health concerns after a diagnosis of ARVC caused by p.S358L in TMEM43 have not been investigated. They are important to understand as the latest data from the SCD team at Memorial University indicates that the ICD has a significant effect on survival with an additional 30 years of life for affected males compared to their historic untreated relatives.

This case report describes a young man, shown to have the p.S358L mutation in TMEM43 at the age of 22 years, provided with an ICD at age 23, and who subsequently died at age 28. This is a qualitative assessment of an in-depth interview regarding his life and death with his parents and partner. The symptoms of his diagnosis (e.g. discharge of the ICD) followed by the aftermath of these symptoms (e.g. loss of his driver’s licence), caused severe mental health changes. These interrupted his medical care, and his compliance with medications to treat heart failure diminished. This resulted in serious cardiac problems, which caused several hospital admissions. Additionally, his lifestyle changed and ‘risky’ behaviours were adopted. Despite great efforts from his family, friends and hospital staff, he saw a psychiatrist only once, and failed to return for follow up appointments.

This case report highlights the need for further research into the psychological implications of the diagnosis and treatment of ARVC due to TMEM43 p.S358L. This would allow us to develop robust data for the provision of psychological / psychiatric supports for these families, which may be applicable to other genetic SCD conditions.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-305 Paediatric sudden cardiac death and a novel frameshift variant in RBM20 identified via Whole Exome Sequencing: Case report and review of the literature

ROADHOUSE, Chelsea1,2, ZAHAVICH, Laura1,2,3, HAMILTON, Robert1, CHATURVEDI, Rajiv1, BOWDIN, Sarah1,2

1Division of Cardiology, The Labatt Family Heart Centre, Hospital for Sick Children, University of Toronto, Toronto, ON. 2Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON. 3Department of Molecular Genetics, University of Toronto, Toronto, ON.

Background: RBM20 (RNA binding motif protein 20) is a gene that has been associated with up to 3% of dilated cardiomyopathy (DCM). Emerging research has demonstrated RBM20’s role in splicing of sarcomeric proteins, including titin. The RBM20– associated DCM phenotype is described as severe with high mortality and transplantation rates. Average age of cardiac onset is in the third decade.

Case Presentation: Patient presented with an atrial septal defect, surgically closed with an ASD device. Subsequently, he had episodes of non-sustained supraventricular tachycardia and premature ventricular contractions. At fourteen years of age he experienced a cardiac arrest during recess at school. Post-mortem examination identified dilated cardiomyopathy and mitral valvular disease.

As this individual had features of a congenital heart defect, arrhythmia, and cardiomyopathy, Whole Exome Sequencing (WES) was determined to be the genotyping method of choice. WES revealed a novel frameshift variant in RBM20 (c.1222del; p.Leu408Serfs*17). This variant was maternally inherited. Subsequently the decedent’s brother and maternal grandfather were found to have the RBM20 variant. The mother has a history of ASD and palpitations. The brother has a history of ASD, as well as mitral valve prolapse and some early findings of generalized or right ventricular cardiomyopathy. The maternal grandfather has a history of atrial fibrillation as well as mitral valve prolapse.

Conclusion: A novel RBM20 variant was identified in family with atrial septal defect, mitral valve disease, arrhythmia, dilated cardiomyopathy, and sudden cardiac death. This family expands the phenotypic spectrum of RBM20-related disease. Functional studies to further support pathogenicity of the identified variant are actively being discussed with consideration for the elicited disease mechanism of RBM20.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-306 A survey of tablet use in the field of genetic counselling in Canada and the U.S.A.

GRAY Christopher1,2, CARUSO Laura1, STEPHENSON Emily3, and WALIA Jagdeep3

1Queen’s University, Kingston ON K7L 3N6, Canada. 2University of Toronto, Toronto ON M5S 1A1, Canada. 3Kingston General Hospital, Kingston ON K7L 2V7, Canada.

Purpose: The objective of this survey was to assess genetic counsellors’ attitudes towards, and/or experiences with, iPads/tablets in the field of genetic counselling. We were interested in determining if genetic counsellors perceive iPads/tablets to increase patient engagement, organization, and overall quality of care.

Methods: An online survey was created using Survey Monkey and distributed to genetic counsellors via the Canadian Association of Genetic Counsellors (CAGC) and the National Society of Genetic Counsellors (NSGC). We received responses from 201 genetic counsellors currently practicing in Canada and the U.S.A. Participants represented more than eight subspecialties including prenatal, cancer, paediatrics, cardiology and metabolic disease, practicing in public, private, non-clinical and academic sectors.

Results: Approximately 14% (n=28) of participants currently use iPads/tablets within their practice, while approximately 84% (n=173) do not. Yet, of the genetic counsellors not currently using iPads/tablets, nearly 60% (n=99) of them would use one “often” or “always” if it were made available to them. Qualitative data were gathered from all participants assessing their opinions about the perceived utility and efficacy of iPads/tablets in genetic counselling. From the perspective of the genetic counsellors surveyed, the results suggest that iPads/tablets improve patient understanding of presented material, patient engagement, information delivery, organization, and overall quality of counselling. For participants who currently use iPads/tablets, reasons for the use of iPads/tablets included video demonstrations, word processing, figures/diagrams/illustrations, telemedicine, and pedigree management.

Significance: The results from this survey provide information about the utilization of iPads/tablets by genetic counsellors, what demand exists for them within the profession, and what benefits they may provide. To date, no studies have examined the use and efficacy of iPads/tablets, specifically within genetic counselling setting in Canada and the U.S.A. This study will help genetic counsellors in Canada and the U.S.A. when determining whether or not iPads/tablets are a useful tool to add to their arsenal. Furthermore, our data may be useful for employers and administrators when determining if iPads/tablets are currently a justifiable expense.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-307 Casting a wider net: A comparison of the experiences and preferences of patients pursuing BRCA1/2 and multi-gene panel testing

GOJSKA Nicolea,b, MCCUAIG Jeannab, DEMSKY Rochelleb, VOLENIK Alexandrab, KIM Raymonda,b, SHUMAN Cheryla, CHITAYAT Davida, MAGANTI Manjulac, FERGUSON Sarahd, RANDALL ARMEL Susanb

aThe Hospital for Sick Children and University of Toronto, Toronto, ON, Canada, bFamilial Breast and Ovarian Cancer Clinic, Princess Margaret Cancer Center, Toronto, ON Canada. cDepartment of Biostatistics, Princess Margaret Cancer Center, Toronto, ON Canada. dDivision of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Toronto, Toronto, ON Canada.

Genetic testing for cancer susceptibility has become an integral component of clinical management. Despite this, little is known about patients’ experience and psychological response to panel testing and how this compares to traditional BRCA1/2 testing.

Objective: To assess the attitudes and psychological impact of panel testing on patients being evaluated for hereditary breast and ovarian cancer syndrome (HBOC). Specifically, the differences in attitudes, preferences and psychological responses of patients pursing BRCA1/2 or gene panel testing were examined.

Methods: Patients over age 18 with a personal diagnosis of cancer and eligible for BRCA1/2 or gene panel testing were identified at the Princess Margaret Cancer Center. Participants completed a questionnaire immediately following pretest genetic counselling, which contained novel and validated tools to obtain attitudes and preferences towards genetic testing, cancer history, demographic information, as well as psychological impact.

Results: 82 of the 148 eligible participants (55.4%) completed the questionnaire (BRCA1/2, n=47; Panel, n=35). Following pretest genetic counselling, 9.7% of participants showed signs of psychological distress related to genetic testing. In this subgroup, 38% pursued gene panel testing. Participants with a recent cancer diagnosis were more likely to report clinically significant distress. Participants pursuing BRCA1/2 (76.6%) and gene panel (77.1%) testing preferred to have panel testing offered as the primary genetic test for hereditary cancer syndromes. Response to a follow-up question indicated that the majority of participants acknowledged that gaining more information through panel testing is beneficial (BRCA1/2, 52%; Panel, 54%), as well as would play a role in guiding treatment and risk-reducing strategies (BRCA1/2, 29%; Panel, 29%).

Conclusions: Our results indicate that gene panel testing is not associated with increased psychological distress in patients pursuing genetic testing in the context of HBOC. Furthermore, most patients indicated that gene panel testing should be offered as the primary genetic test, acknowledging the potential personal and clinical utility and supporting the use of gene panel testing for high-risk patients.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-308 Carrier screening program for Cree Encephalitis and Cree Leukoencephalopathy: Long-term knowledge and carrier status retention in high school students

LE CLERC-BLAIN Jessica1, GOSSELIN Valérie2, BEARSKIN Annie3, TORRIE Jill E.2, MITCHELL Grant A.1,4, WILSON Brenda J.5, RICHTER Andrea1,4, LABERGE Anne Marie1,4

1CHU Sainte-Justine Research Center (Montreal, QC). 2Cree Board of Health and Social Services of James Bay (Chisasibi, QC). 3Eeyou Awaash Foundation (Chisasibi, QC). 4Medical Genetics Division, CHU Sainte-Justine and Department of Pediatrics, University of Montreal (Montreal, QC). 5School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa (Ottawa, ON).

Background: Cree Encephalitis (CE) and Cree Leukoencephalopathy (CLE) are two neurodegenerative autosomal recessive conditions with high carrier rates in the James Bay Cree communities of Northern Quebec (Canada). Education/counselling sessions are offered to high school students (≥ 14 years) through the CE-CLE carrier screening program (CSP), a population-based CSP developed by local health authorities in collaboration with the Eeyou Awaash Foundation (a community family support group).

Objective: To describe high school students’ knowledge of the CE-CLE CSP 6-12 months after their education/counselling session, and evaluate their carrier testing result retention.

Methodology: Surveys were handed out before (survey A), after (survey B), and 6-12 months (survey C) following the CSP education sessions to Quebec secondary 3-5 students (equivalent to grades 9-11). Data was collected on demographics, knowledge of CE-CLE, attitudes about screening, and carrier status retention. Knowledge questions were compared among participants who answered all three surveys (n=50), using t-tests. Participants’ answers about their carrier status were compared to their test results in the clinical database.

Results: Of 359 eligible students, 134 (37%) answered survey A. Of these, 71 (53%) answered survey B and 72 (54%), survey C. Ages ranged from 14-20 years. Twenty-three (17%) were either pregnant or already had at least one child. Twelve (9%) reported a positive family history for CE or CLE. Out of 14 knowledge questions, the mean number of correct answers was 4.5 (survey A), 7.3 (survey B) and 6.9 (survey C). Between pre-screening (A) and immediate post-screening (B) surveys, we observe a significant increase in the number of correct answers (p=0.003). The number of correct answers 6-12 months post-screening (C) is slightly lower than right after screening (B), but this difference is not significant (p=0.68). Knowledge remains significantly higher 6-12 months post-screening (C) than pre-screening (A) (p=0.01). Out of 72 students who answered survey C, 62 (86%) correctly remembered participating or not in the screening. Out of the 54/72 (75%) students who did the screening test and for whom results were available, 34/42 (81%) accurately remembered their carrier status.

Conclusion: Post-screening knowledge and carrier status retention is encouraging, pointing to the lasting impact of the CE-CLE CSP education sessions on high school students. This program may serve as a model for other CSPs.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-309 Transition from pediatric to adult care for young patient with hereditary ataxia

GOSSE Géraldine1, SETTO Amélé2, POMEY Marie-Pascale2, BELANGER Brigitte3, BRAIS Bernard4, CHAMELIAN Laury1, CHAMPAGNE Manon5, LAHAIE Valérie1, SZUTO Anna, DUQUETTE Antoine1

1Centre hospitalier de l’Université de Montréal (CHUM, Montreal). 2Université de Montréal. 3Children’s Hospital of Eastern Ontario (CHEO). 4Centre de réadaptation Lucie-Bruneau. 5Université du Québec en Abitibi-Témiscamingue (UQAT).

Introduction: Hereditary ataxias form a heterogeneous group of diseases characterized by incoordination of gait and voluntary movements and loss of balance, associated with a variety of other symptoms. Children affected with ataxia have benefited from medical advances and now tend to live longer. Consequently, more and more teenagers are transitioning from pediatric to adult care. The transition process has not been studied yet for this specific population of patients. Our research aims to identify the needs of ataxic patients and their families during this change in care, to understand their experience during this period, and to collect their suggestions to facilitate the process.

Methodology: Overall, 10 patients (from 16 to 30 years old) and 8 parents participated to an online questionnaire regarding their needs at the time of the transition. Among the participants, 5 (3 patients and 2 parents) were selected for semi-structured interviews. The interviews were analyzed using inductive thematic analysis.

Results: The most frequent diagnosis of the participants was Freidreich ataxia (50%), followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (28%). The questionnaire showed that 71% of participants preferred pediatric to adult care. Poor access to specialists decreased satisfaction with the adult system. We identified several needs during the transition, which relate to access to medical care, information regarding changes in the care system and adult life, as well as psychosocial support of healthcare professionals. The key aspects of the interviews were grouped in five themes: organization of medical appointments, relationship with the medical team, information provided by professionals, feelings expressed regarding the transition, and suggestions to improve the process. Participants suggested that meetings between patients and families could be part of psychological support. They also suggested a regular follow up in the adult system and a coordinator in charge of helping patients in appointment organization. All participants to the interviews were in favor of the creation of a transition clinic.

Conclusion: Healthcare professionals must keep in mind that transition to adult care is a very challenging event for patients and their families. Efforts should be made in both care systems to guide patients and parents through the transition by providing them with adequate information and psychosocial support. The idea of a transition clinic seems to meet all patient needs, and it is our future goal to establish a pilot study in Montreal to validate this hypothesis.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-310 An autosomal dominant case of hemophagocytic lymphohistiocytosis (HLH) due to a rare NLRC4 mutation

CHIU, Tillie and RICHER, Julie

CHEO Genetics Clinic, Ottawa, ON.

Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous condition in which the histiocytes and the T-lymphocytes proliferate and are abnormally active. This leads to a variety of symptoms including fever, hemophagocytosis and cytopenia, liver disease, and splenomegaly. There is clinical overlap with HLH and other conditions characterized by autoimmune disease and/or recurrent fever syndromes. HLH can be inherited (familial HLH, or FHLH) or secondary (often from an infectious cause). The typical case of FHLH presents in infancy at 2-3 months of age, with auto-inflammation and associated symptoms triggered by an ordinary viral infection. If untreated, this can lead to organ failure and death. The incidence of FHLH is estimated to be rare, at 1 in 50,000 live births, however, clinical variation in symptomatology and age of onset is starting to be appreciated and this number may therefore be an underestimate.

Familial HLH is most often transmitted as an autosomal recessive condition but can also be X-linked or dominant. We report here on an adult male of consanguineous Pakistani descent with a novel mutation in NLRC4 (c.1630G>T; p.Glu544*) identified through next-generation sequencing of a panel of fourteen genes associated with recurrent fever syndromes. He presented in his 30s with prolonged fever, hemophagocytosis, cytopenia, splenomegaly, lymphadenopathy, joint pain and myalgia, vomiting and diarrhea. A bone marrow biopsy supported a diagnosis of FHLH and not secondary HLH. He had no known family history of a similar condition. Our case represents the third HLH family due to an NLRC4 mutation found in the medical literature and illustrates a much milder presentation than in most cases previously reported.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-313 Integration of genetics into the assessment and management of cardiovascular risk: a report from a specialty lipids clinic in Southern Ontario

CARERE, Deanna Alexis1,2, THÉRIAULT, Sébastien1,2, ÇAKU, Artuela1,2, and PARÉ, Guillaume1,2

1Population Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton, Ontario. 2Department of Pathology and Molecular Medicine, McMaster University, Michael G. DeGroote School of Medicine, Hamilton, Ontario.

Background: Inherited dyslipidemias affect >1/500 Canadians and are the most common genetic cause of premature cardiovascular disease (CVD) and death. Genetic diagnosis is not currently recommended in those who meet diagnostic criteria based on plasma lipid levels; nonetheless, patients with suspected hereditary dyslipidemias may benefit from genetics-informed care. We report on our experience in the Hamilton General Hospital (HGH) Lipids Genetics Clinic (LGC), one of the only programs in Canada to integrate genetic approaches into the management of dyslipidemia.

Methods: The HGH Lipids Clinic is staffed by 4 physicians, of whom one (GP, a medical biochemist) focuses his practice (the LGC) on genetics-related cases. LGC patients are also seen by a clinical fellow (ST, AC), a genetic counsellor (DAC), and a registered dietician. We undertook a review of all LGC appointments between April 2015 and May 2016 (inclusive).

Results: Over the 1-year period, 25 LGCs were held: 77 new consults and 192 follow-up appointments were scheduled, of which 64 and 151, respectively, presented to clinic. The most frequent reasons for new referral were: hypercholesterolemia – CVD primary prevention (~30%); stroke (~26%); hypertriglyceridemia – CVD primary prevention (~23%); and coronary artery disease (~19%). Fifty-two percent of new patients had a significant family history contributing to CVD risk. Genetic testing was offered to 17 new patients (25%), of which 16 were enrolled in a whole exome sequencing (WES) research study (led by GP), and 2 had clinical genetic testing. WES results are available for 14 patients, in whom a molecular diagnosis of Familial Hypercholesterolemia (FH) was made in 2 (caused by APOB and LDLR¬ mutations, respectively); actionable incidental findings were identified in 2 (a PALB2 mutation and an SCN5A mutation); variants of uncertain significance (VUSes) related to the phenotype were identified in 4; and no variants of interest were identified in 6. Clinical genetic testing identified an LDLR mutation in a third patient. Results disclosure typically prompted discussions of future CVD risk, the multi-factorial etiology of CVD and modifiable risk factors, the importance of pharmacological treatment, and risk for family members. Two patients with FH mutations plan to pursue genetic screening of at-risk children, and all patients with VUSes have expressed interest in further research, including familial segregation studies.

Discussion: One-quarter of LGC patients have a presentation suggestive of a hereditary condition, but current methods identify a molecular diagnosis in only ~18% of those tested. Patient interest in genetic testing, screening of at-risk children, and pursuit of further research investigation is high. Integration of genetic approaches into CVD risk assessment and management facilitates discussion of future disease risk and risk modification options.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-314 How the Quebec Rare Disease Information and Resource Centre can help patients (or not)?


Regroupement québécois des maladies orphelines, Montreal, Quebec.

The Quebec Rare Disease Information and Resource Centre is managed by the Quebec Coalition of Orphan Diseases (Regroupement québécois des maladies orphelines, RQMO), a non-profit organization co-founded by patients, patient organizations and a genetic counsellor. Patients, caregivers, and health professionals can contact the Centre for information on any rare disease. Health professionals transmit official, trustworthy and up-to-date information on: the disease, patient organizations, specialized clinics, orphan drugs or other treatments, research projects, clinical trials, etc. They can also refer patients to community and governmental organizations to help with other matters (finances, social services, etc.). Other services include: connecting people with the same disease, giving basic genetic counseling, and listening. Referrals to genetic services are made when necessary.

Since its official opening in 2014, the Centre collects data on the callers’ profiles and needs. The most frequent request is for information on a rare disease; second, is for medical referrals; and, third, is for finding someone with the same disease. The requests are for a great variety of rare diseases with low recurrence for any particular disease. There is one exception and that is for Ehlers-Danlos syndrome (EDS). From February 2014 to April 2016, there were 107 calls or emails related to this syndrome, representing 14.5 % of all requests. Most of the requests concerning EDS were from people (mostly women) who wanted to obtain a diagnosis (n=71). They either self-diagnosed or obtained a probable diagnosis from their family physician or other specialist. Some contacted the Centre for an undiagnosed condition, but following a description of their symptoms which resembled EDS, we found it relevant to refer them to a genetic service for a diagnosis. The second most frequent need of this subpopulation of patients is finding physicians in different specialties who are knowledgeable about EDS. We have observed that the majority of EDS patients contacted us after a long odyssey through the health system and showed physical and emotional distress.

We will present data on the profiles, diseases, and needs of the people who contact the Rare Disease Information and Resource Centre. We will also discuss some trends that we have observed in the callers’ requests and that are related to recent changes in genetic testing. Finally, we will present more data on the EDS subpopulation and our observations concerning the needs and possible solutions for these patients.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-315 Non-invasive prenatal testing: watch out for that mole!


Children’s Hospital of Eastern Ontario, Ottawa.

We present a case of a 32-year-old G4L3 woman referred for prenatal genetic counselling following an ultrasound at 12+6 weeks gestation showing a normal fetus but a thick and inhomogeneous placenta with cystic spaces at the fundus. The placental mass could not be distinguished as molar vs. chorioangioma. The patient opted to pursue Natera’s Panorama™ non-invasive prenatal testing, which was reported as high risk for triploidy/vanishing twin. The pregnancy was terminated for vaginal bleeding and predicted poor obstetric outcome. Pathological examination of the placenta revealed a mass occupying approximately 20% of the placenta, consistent in appearance to a complete mole. The remaining 80% of the placenta appeared normal. Tissue from the placental mass showed loss of P57 staining (loss of the maternal expression pattern) supportive of a complete mole. Standard chromosome analysis of cultured cells from the fetus and normal portion of the placenta showed normal male karyotypes (46,XY). Chromosome analysis on the abnormal (molar) placenta was unsuccessful because of tissue culture failure. The SNP based NIPT data was suggestive of a vanishing twin case. Two genotypes were observed in the cffDNA: one male and one female. We examine plausible mechanisms that reconcile the clinical, pathological, cytogenetic and NIPT data. This case highlights the benefits of detailed pathological and cytogenetic studies to understand the underlying biological mechanisms of placental masses and how these influence NIPT results. Although SNP based NIPT has been reported to detect a complete molar pregnancy (Simon AL et al, 2015), this case suggests it may also assist clinicians in identifying placental masses of molar origin. Implications for prenatal genetic counselling are discussed.

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Poster Presentation: Thursday November 3, 5:30–7:30 p.m.

GC-316 Genetic Counselling Students’ Attitudes Toward Stress and Anxiety and their Help Seeking Behaviors


Hospital for Sick Children, University of Toronto, Toronto

Objective: Studies show that genetic counselling students experience high levels of stress and anxiety which can have a negative impact on academic performance and quality of life (QoL). Understanding these students’ behaviors and attitudes towards help seeking for stress and anxiety is therefore pertinent to their academic success. We thus sought to explore genetic counselling students’ help seeking behaviors, their attitudes towards help seeking for stress and anxiety and their opinions about available supports for coping with stress and anxiety in their program.

Methods: A questionnaire employing descriptive quantitative and qualitative components was adapted from previous studies looking at help seeking behaviors of medical students with burnout and student nurses’ attitudes towards help seeking for stress. An email with a link to the online, anonymous questionnaire was sent to 34 accredited genetic counselling programs across North America with a request to their program director to forward the email to current students.

Results: 224 genetic counselling students responded to the survey. Of those, 70% considered seeking help while 52% actively sought help for stress and/or anxiety since starting their program. Most sought help first from family/friends (32.4%) and classmates (21.9%). Comfort level was the most influential factor in deciding from whom they sought help (41.2%). The most important factor for not seeking help was feeling that they could work through it themselves (39.3%) and lack of time (36.5%). Most saw help seeking as a personal strength (58.5%) but fewer agreed that their program faculty views help seeking as such (36.1%). Preliminary analysis of the qualitative component revealed these recurring themes; (i) lack of time to seek support/self-care; (ii) the need to educate students/faculty about resources; (iii) feeling unsupported by faculty when approached about feeling stress/anxiety; (iv) the need to normalize help seeking.

Conclusion: This study shows that genetic counselling students with stress and anxiety actively sought help first from individuals intimately known to them because of comfort level. Those that did not seek help most often cited working through it themselves as a reason. Lack of time and perceived stigma also hindered students from seeking help. Potential recommendations for programs include having educational sessions to manage stress/anxiety, time in the curricula for student self-care, and educational sessions for faculty in providing appropriate and positive support. Combined these measures may promote positive attitudes towards help seeking thus improving student’s academic success and QoL.

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