Session Descriptions

Alternative Service Delivery Models: 5 Years of Experience at the Hereditary Cancer Program in British Columbia
Wednesday October 21, 9:10 – 10:00 a.m.

Zoe Lohn, MSc, Genetic Counsellor, BC Cancer’s Hereditary Cancer Program

Objectives:
At the end of this session, participants will be able to:

  • Examine the rationale for exploring novel service delivery models.
  • Compare and contrast various service delivery models with respect to patient-reported outcome measures and practical considerations.
  • Summarize the considerations and challenges in selecting a particular service delivery model.

The Hereditary Cancer Program is a provincial publically-funded clinical service in British Columbia for hereditary cancer risk assessment and support. Wait times for non-urgent new patients has grown and is currently up to 3 years. As a result, the HCP has been piloting alternative models of service delivery over the past five years to optimize efficiency and decrease wait times. This plenary session will include an overview of service delivery models utilized at the HCP including: traditional face-to-face, telephone/telegenetics, DNA-direct, oncology-based, small group and large group. This plenary session will be of interest genetic counsellors practicing in various clinical specialties.

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The Mainstreaming Process: Oncologist-Mediated Genetic Testing for Hereditary Cancer
Wednesday October 21, 10:00 – 10:25 a.m.

Stephanie Desmarais, MSc, CGC, CCGC, Certified Genetic Counsellor, Hereditary Cancer Clinic, Alberta Children’s Hospital
McKenzie Mitchell, BSc, MSc, CGC, Genetic Counsellor, Alberta Health Services

Objectives:
At the end of this session, participants will be able to:

  • Summarize the planning and rollout of the Mainstreaming process.
  • Indicate how Mainstreaming performs and compares to the historical model of offering genetic testing to patients for hereditary cancer.
  • Examine how the Mainstreaming model can be applied to other tumour groups and hereditary cancer clinics across the country.

In Alberta, hereditary cancer testing historically required referral to the Hereditary Cancer Clinic (HCC) for genetic counselling. Exponentially increasing HCC referrals and need for timely genetic test results meant this model was not sustainable. Mainstreaming enables oncology teams to discuss and offer multigene panel testing for hereditary cancer, while preserving informed decision-making and genetic counselling support. Mainstreaming is supported by a centralized “HCC Hub”. Results suggest Mainstreaming is a satisfactory model, streamlines the genetic testing process and increases capacity of the HCC province-wide. Now that Mainstreaming is a standardized provincial service model, expansion to other tumour groups is underway. This presentation is intended for: hereditary cancer genetics and oncology healthcare providers, as well as any genetics professionals exploring innovative ways to manage increased referrals without an increase in resources, in an era of genotype-driven treatment.

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Undergraduate co-Operative Students in the Genetics Clinic
Wednesday October 21, 10:25 – 10:55 a.m.

Brittney Johnstone, MSc, Genetic Counsellor, Sunnybrook Odette Cancer Centre
Karen Ott, MS, Genetic Counsellor, Sunnybrook Odette Cancer Centre

Objectives:
At the end of this session, participants will be able to:

  • Summarize the logistics of employing co-operative (co-op) students.
  • List the potential roles of a co-op student.
  • Identify benefits and limitations of having co-op students.

At our tertiary cancer centre, increasing demands on genetic counsellor’s time have necessitated the development of additional support roles. This has included volunteers, genetic counselling assistants, and more recently co-operative (co-op) students. Our clinic has six years’ experience integrating co-op students into our team, which sees them completing a variety of tasks ranging from taking pedigrees over the phone to preparation of charts. This session will provide an overview of our experience including the roles, limitations, and benefits of having co-op students. Target audience: genetic counsellors.

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Telephone: a means to scale & increase access, with high patient and genetic counselor satisfaction
Wednesday October 21, 11:25 – 12:05 p.m.

Colleen Caleshu, MSc, CGC, Senior Director of Research, Cardiovascular Team Lead, GeneMatters

Objectives:
At the end of this session, participants will be able to:

  • Define three key components of a scaled telehealth genetic counseling service.
  • Examine the evidence base for telehealth genetic counseling.
  • List five tricks to improve effectiveness of genetic counseling by phone.

There has been rapid adoption of telehealth in response to the COVID pandemic. This session will review the evidence available on telephone-based genetic counseling. We’ll also explore the model and experience of GeneMatters, a genetic counselor-founded and led telehealth company that has been providing telehealth genetic counseling for over 3 years. Finally, we’ll consider best practices, tips, and tricks for effective telephone-based genetic counseling. Target audience is genetic counselors in any setting or specialty.

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A Complete 180 – How a community hospital changed to phone and virtual counselling due to the COVID-19 pandemic
Wednesday October 21, 12:05 – 12:45 p.m.

Ingrid Ambus, MSc, CCGC, Genetic Counsellor, North York General Hospital
Islay Fitzgerald, MSc, CGC, CCGC, Genetic Counsellor, North York General Hospital
Kristen Miller, MS, CGC, CCGC, Genetic Counsellor, North York General Hospital

Objectives:
At the end of this session, participants will be able to:

  • Examine how a community hospital general genetics program switched to phone and virtual counselling methods due to the COVID-19 pandemic.
  • Evaluate our experience with the strengths and weaknesses of phone, virtual, and protected in-person genetic counselling in prenatal, cancer, and Huntington disease cases.
  • Illustrate a plan to continue using these methods once in-person genetic counselling becomes available again.
  • Identify how these alternate tools may be used in place of group counselling for prenatal and cancer cases.

Before COVID-19, the NYGH general genetics program did not offer phone counselling. With the pandemic, nearly all appointments were switched from in-person to phone or virtual. We will review the NYGH experience with virtual and phone genetic counselling in the three specialized areas of Prenatal, Cancer, and Huntington disease. These alternate modes have worked very well in some cases, and in others there were fairly significant limitations. The target audience is all genetic counsellors, as the lessons learned could be applied to any area of genetic counselling and/or genetics speciality.

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Genetic counselling delivery by webinar: The Alberta experience with hypertrophic cardiomyopathy
Wednesday October 21, 1:15 – 1:45 p.m.

Raechel Ferrier, BSc, MSc, MA, Clinical Operations Lead / Certified Genetic Counsellor, Alberta Health Services

Objectives:
At the end of this session, participants will be able to:

  • Argue the effectiveness and acceptability of an online webinar for delivery on genetic services.
  • Summarize the logistics of the development of an online patient webinar.
  • Evaluate the feasibility of adapting this model into their practices.

Genetic counselling for hypertrophic cardiomyopathy (HCM) has traditionally involved face-to-face / one-on-one appointments. The number of HCM referrals in Alberta have increased significantly in recent years, straining resources. In response, a provincial initiative to develop an alternative delivery method through a webinar was launched. Patients have the option of a traditional appointment, or to register for a live and interactive webinar. Patients who proceed with genetic testing receive a one-on-one post-test genetic counselling appointment where results are reviewed and interpreted in detail. As part of this initiative the quality of the webinar as compared with the traditional approaches was evaluated. Target Audience: Clinicians (genetic counsellors, physicians), Leaders / Managers, IT professionals.

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Implementation of Online Learning Module for Hereditary Breast and Ovarian Cancer
Wednesday October 21, 1:45 – 2:15 p.m.

Kelly Anderson, MSc, Genetic Counsellor, CHEO

Objectives:
At the end of this session, participants will be able to:

  • Illustrate the e-learning (eL) service delivery model used at CHEO for women who have not been diagnosed with cancer (unaffected) but have a family history of breast and/or ovarian cancer.
  • Summarize the quality improvement initiatives used to launch the online learning module.
  • Evaluate how the eL work flow improved our efficiency to provide genetic assessments to our largest referred population.

Almost 50% of referrals made to the Hereditary Cancer Clinic at CHEO are women who have not been diagnosed with cancer, but have a significant family history of breast and/or ovarian cancer. To see all patients within their assigned priority level, a need was identified to find efficiencies in the way we provided genetic counselling. The steps and quality improvement (QI) initiatives to provide genetic counselling to patients within their priority level will be discussed. The development and launch of our online service delivery model (elearning module) will be outlined as well as the results of these changes. Target audience: Genetic counsellors working in a clinical (patient facing) setting.

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Effectiveness of the Genomics ADvISER, a decision aid for the selection of incidental genome sequencing results
Wednesday October 21, 2:15 – 2:45 p.m.

Salma Shickh, MS, Genetic Counsellor, St. Michael’s Hospital, University of Toronto

Objectives:
At the end of this session, participants will be able to:

  • Examine the benefits and challenges of using e-tools in clinical genetics practice.
  • Summarize the Genomics ADvISER, an online interactive decision aid to guide patients in selecting incidental results.
  • Compare knowledge and decisional conflict between patients undergoing standard genetic counseling versus patient using the Genomics ADvISER.

The volume and complexity of incidental results (IR) from genome sequencing (GS) makes engaging in pre-test shared decisionmaking with each patient infeasible. Novel e-health tools such as decision aids (DAs) are needed to fill this critical care gap. We created an interactive, online DA (www.genomicsadvisor.com) to guide patients’ selection of IR by “binning” IR into 5 categories: 1. Medically actionable & pharmacogenetic variants 2. Common disease SNPs 3. Mendelian disease variants 4. Early-onset neurological variants 5. Carrier results. This presentation will review the tool and summarize results of a trial that evaluated the effectiveness of the Genomics ADvISER DA compared to genetic counseling. Target audience: Genetic counsellors, genetic counselling students and other providers interested in alternative tools for education and counselling.

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Genetic testing for all breast and ovarian cancer patients at the time of diagnosis: Can (and should) it be done?
Wednesday October 21, 3:15 – 4:00 p.m.

Jeanna McCuaig, MSc, CGC, CCGC, Genetic Counsellor, Princess Margaret Cancer Centre
Kelly Metcalfe, RN, PhD, Professor, University of Toronto

Objectives:
At the end of this session, participants will be able to:

  • Identify the benefits and limitations of genetic testing for all breast and ovarian cancer patients.
  • Evaluate the clinical and psychosocial impact rapid genetic testing at the time of breast cancer diagnosis.
  • Summarize the benefits and limitations of reflex BRCA tumor testing.

Genetic information is necessary to personalize the care of breast and ovarian cancer patients; however, many patients do not access this information. While genetic testing is recommended for all high-grade serous ovarian cancers, the role of genetic testing for all breast cancer patients is still debated. Alternative genetic testing strategies are being used in increase access and timeliness of genetic information. Dr. Metcalfe will review the Rapid Genetic Testing Study, where genetic testing is offered to breast cancer patients at the time of diagnosis. Ms. McCuaig will discuss the implementation of reflexive BRCA tumour testing for high-grade serous ovarian cancer.

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Genetic Screening in ALS – A National Approach
Wednesday October 21, 4:00 – 4:30 p.m.

Kristiana Salmon, BSc. EMBA, National Programs Manager, Montreal Neurological Institute-Hospital

Objectives:
At the end of this session, participants will be able to:

  • Summarize the current practices, regarding genetic testing in the ALS population, across Canada.
  • Evaluate the growing appreciation for the implication of genetics in what present as seemingly sporadic cases of ALS.
  • Summarize the proposed plan for a national quality improvement plan to introduce genetic testing for all new diagnoses of ALS, in collaboration with Canadian ALS Clinics, medical genetics, local ALS societies and advocacy groups, and provincial governments.

Several therapies are currently in development, in both early pre-clinical and clinical late stage, for amyotrophic lateral sclerosis (ALS) with a genetic etiology. While genetic testing is somewhat readily available for those patients presenting with a clear family history of ALS, testing of what present as sporadic cases is not widespread. Our goal is to initiate a Quality Improvement plan to explore implementation of genetic testing to all new diagnoses of ALS in Canada, in order to ensure timely access to emerging therapies. This presentation is aimed at genetic counsellors.

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Universal testing of endometrial cancer: Reaching an under-served population (the UTERUS project)
Wednesday October 21, 4:30 – 5:00 p.m.

Candice Jackel-Cram, MSc, PhD, CCGC, Genetic Counsellor, Saskatoon Royal University Hospital

Objectives:
At the end of this session, participants will be able to:

  • Compare the roles of immunohistochemistry for mismatch repair tumour screening and paired germline and somatic testing for diagnosis of Lynch syndrome.
  • Evaluate the value of universal tumour screening and testing for Lynch syndrome.
  • Identify other potential hereditary cancer syndromes that may be involved in endometrial cancer risk.

Endometrial cancer has been an under-recognized cancer in the identification of Lynch syndrome families. Newly available technologies by tumour genetic testing can allow for a more streamlined approach to identifying women with endometrial cancer due to Lynch syndrome or other hereditary cancer syndromes. Currently in Saskatchewan, the process of genetic testing for suspected Lynch syndrome is hampered by a long waitlist to see Genetics for testing. The purpose of the UTERUS project is to show the value of universal screening for Lynch syndrome at the time of diagnosis via mismatch Repair (MMR) somatic genetic testing to identify both Lynch and biallelic somatic MMR (“Lynch-Like”) patients by utilizing paired tumour and germline analysis and improve the process and wait times for suspicious patients and their families. All women in Saskatchewan diagnosed with endometrial cancer from March 2019 – September 2020 were screened by immunohistochemistry for MMR in their tumour. Women with MMR deficient tumours were offered comprehensive paired MMR tumor and germline testing. Women with MMR proficient tumours were offered germline hereditary cancer testing via a 30 gene panel. Genetic counselling was offered at the time of enrollment through collaboration with Dynacare laboratories and following positive test results with the Saskatoon Division of Medical Genetics. The program was made possible through a $100,000 grant from the Royal University Hospital Foundation’s Women Leading Philanthropy program. Patient recruitment and testing is ongoing and data on patient results will be presented.

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Keynote: Twisted Science: Are Public Representations of Genetics Doing Harm?
Thursday October 22, 9:45 – 10:45 p.m.

Timothy Caulfield, BSc, LLB, LLM, FRSC, Canada Research Chair in Health Law and Policy, University of Alberta

Objectives:
At the end of this session, participants will be able to:

  • Differentiate between public representation of genetics and they science-informed reality.
  • Summarize the harms associated with misrepresentations genetics and inaccurate marketing strategies.
  • Construct strategies to counter genetic misinformation, including the utilization of regulation and science communication.

Genetics continues to get a lot of attention in popular culture, including topics relevant to conceptions of “race” and biological difference, emerging genomic technologies, the personalized approaches to a healthy lifestyle. And genetic language is often used to sell a range of health products (a marketing strategy I call “scienceploitation”). But how accurate are these representations? Do they do more harm than good? And what is the role of healthcare professionals, researchers, and regulators in helping to ensure that science communication about genetics is done in a responsible and constructive manner?

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Abstract Session
Thursday October 22, 11:15 – 12:30 p.m.

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CAGC Research Grant Presentation – The Whole Exome Sequencing Experience in Canada: Current Practices and Anticipated Challenges to Widespread Implementation (Not Available OnDemand)
Thursday October 22, 12:30 – 1:00 p.m.

Salma Shickh, MS, Genetic Counsellor, St. Michael’s Hospital, University of Toronto

Objectives:
At the end of this session, participants will be able to:

  • Summarize current practices across Canada with regards to clinical exome and genome sequencing.
  • State providers’ perspectives on the clinical utility of exome and genetic sequencing.
  • Examine common policy challenges, such as access to exome/genome sequencing, returning incidental results, and recontacting participants.

Exome and genome sequencing are anticipated to replace standard genetic testing modalities. However, these tests are associated with policy challenges, including access issues, revealing incidental findings (IF) and results of uncertain significance, whose classification may change over time. Research assessing the use of exome/genome and these associated challenges within Canada is limited. This presentation will review the results of a qualitative study that explore current practices and anticipated challenges associated with clinical exome/genome sequencing among Canadian clinicians and laboratory professionals. Target audience: Genetic counsellors practicing in a setting where exome/genome sequencing are frequently ordered.

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General Public Inquiries – How Far should you go?
Thursday October 22, 1:30 – 2:15 p.m.

Tina Babineau Sturk, MSc, CCGC, Genetic Counsellor, LifeLabs Genetics

Objectives:
At the end of this session, participants will be able to:

  • Contrast the limitations in patient advice from a clinical genetic perspective vs private laboratory.
  • Examine the volume of work created by general public inquiries.
  • Design a strategy for time management of work created by general public inquiries.

As awareness of genetics rises in the general population, individuals are increasingly interested in knowing more about their risks of disease or finding a definitive cause for their symptoms. There may be options for Ministry funding but wait times are long and funding is limited. Individuals are increasingly seeking private pay options or looking to coordinate genetic testing without going through traditional routes but what is the role and time commitment from the genetic counsellor in advising genetic testing on patients they have not evaluated? How do we work together as a profession to ensure best possible care?

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Poster Presentations
Thursday October 22, 2:15 – 3:00 p.m.

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The Cost of Free Testing: Sponsored Genetic Testing in Canadian Health Care
Thursday October 22, 3:30 – 4:30 p.m.

Kirsten Bartels, MSc, CCGC, Program Coordinator, St. Paul’s Hospital
Jennifer Nuk, MSc, CCGC, CGC, Clinical Coordinator/Genetic Counsellor, BC Cancer Hereditary Cancer Program

Objectives:
At the end of this session, participants will be able to:

  • Examine the changing landscape of sponsored genetic testing programs.
  • Summarize the potential impact of these programs on providers, patients, the health care system, and clinical genomic research in Canada.
  • Examine the ethical considerations in the provision of sponsored genetic testing in the Canadian context.
  • Identify key considerations for providers ordering sponsored tests.

The landscape of sponsored genetic testing programs offered by commercial clinical laboratories has recently evolved from targeted biopharma-sponsored tests identifying those with very rare diseases for development of therapeutics to programs with broad eligibility criteria which test for multiple, much more common, genetic conditions. Offering a clinical test at no-cost can allow patients, in Canada and elsewhere, to access the test without the need for public or private health insurance coverage. In return, the sponsors are receiving clinical and genetic patient data. Although sponsored programs may appear to simplify access to genetic testing, we will discuss the important potential privacy, clinical, ethical and legal ramifications of such programs. Additionally, we will outline key considerations for healthcare professionals who may avail of these programs. Target audience: Genetic Counsellors, Medical Geneticists, other genetics clinicians.

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Supporting a Lost Dream
Thursday October 22, 4:30 – 5:30 p.m.

Danielle Holm, BSW, RSW, Women’s Health Social Worker, Alberta Health Services
Jennifer Karpes, RN, BScN, Clinical Nurse Educator, Lois Hole Hospital for Women, Royal Alexandra Hospital
Patti Walker, RN, BN, Regional Bereavement Coordinator, Lois Hole Hospital for Women/Royal Alexandra Hospital

Objectives:
At the end of this session, participants will be able to:

  • Language – Illustrate the importance of supporting a family with a life altering or life limiting diagnosis in the pregnancy by using appropriate language and mimicking the language of the grieving families.
  • Birth Plan – Illustrate the importance of creating a birth plan for their pregnancy/delivery and assist grieving parents with creating their own birth plan.
  • Mementos – List memento options available to grieving families and support families in obtaining these mementos.

Pregnancy is often described as a happy and exciting time for families. However, for many families, their dream of becoming a parent takes a very different journey. The bereavement team at the Royal Alexandra Hospital/Lois Hole Hospital for Women help explore the difficult path that many families are presented with when they receive a life limiting or life altering fetal diagnosis in pregnancy. This is frequently an isolating experience, which at times is misunderstood by the families natural support network and/or extended family and friends. While we are unable to change the fact that many families are confronted with loss during pregnancy, we can help to support them and bring new meaning to their experience. Together, we will discuss how the bereavement team supports families throughout their journey; at the time of diagnosis, at the delivery, and once they return home.

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Improving the Experience for LGBTQ2S+ People
Friday October 23, 9:15 – 10:00 a.m.

Marni Panas, Program Manager Diversity and Inclusion, Alberta Health Services

Objectives:
At the end of this session, participants will be able to:

  • List LGBTQ2S+ terminology that is meaningful and respectful.
  • Identify and break down the myths and misunderstandings about transgender people.
  • Summarize skills needed to create a safe, supportive and nurturing environment for people of a sexual or gender minority.

This presentation will explore how to better work with, support and advocate for patients, family, friends and colleagues who identify as a sexual or gender minority (LGBTQ2S+). Participants will hear personal experiences and stories, learn terminology and theory, and discuss what we can do to improve the experience for this often marginalized and vulnerable population. This session is valuable to anyone who provides care and services too or works with members of the LGBTQ2S+ community.

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Genetic Counselling for Intersex Conditions: A Community Approach to Depathologization
Friday October 23, 10:00 – 10:45 a.m.

Katie Saulnier, B.A., B.C.L./LL.B., M.A., McGill University

Objectives:
At the end of this session, participants will be able to:

  • Examine the history of pathologization of intersex individuals and the needs of the intersex community.
  • List the challenges facing intersex individuals and their families in receiving counselling.
  • Evaluate their own experiences as counsellors and consider ways to integrate the voices of intersex individuals into counselling approaches.

About 1.7% of the population falls under the umbrella of “intersex”, including sexual variation at the chromosomal, gonadal, hormonal, and genital levels. For this population, healthcare is fraught with harms, including non-consensual surgeries and the misuse of therapeutic privilege. Genetic testing is increasing the frequency of prenatal detection, and medical pathologization directly influences prenatal decision-making. Genetic counselors are well-situated to place test results in an appropriate social and medical context. This talk will outline the challenges facing intersex individuals, their families, and their healthcare providers, and invite reflective discussion on the genetic counselling community’s role in providing non-pathologizing care. Target audience: Genetic Counselors.

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Poster Presentations
Friday October 23, 11:15 – 12:00 p.m.

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Introduction to Preimplantation Genetic Testing for the Clinical Counsellor (Not Available OnDemand)
Friday October 23, 12:00 – 1:00 p.m.

Charlotte Emmerson, CGC, CCGC , Consultant, Recombine
Erica Pai, MS, CGC, CCGC, Senior International & Operational Genetic Counsellor, CooperSurgical Fertility and Genomics Solutions
Jaspreet Sekhon-Warren, BSc, MSc, MSc, Genetic Counselor CooperSurgical/BC Prenatal Screening Program/UBC Medical Genetics Clinical Instructor, CooperSurgical Fertility and Genomics Solutions/BC Prenatal Screening Program

Objectives:
At the end of this session, participants will be able to:

  • Differentiate between PGT-A, PGT-M, and PGT-SR and identify patients who could benefit from these procedures.
  • Examine the ethical and social issues surrounding PGT.
  • Identify challenges in PGT, such as counselling patients about embryonic mosaicism, de novo child cases, mosaic de novo parents.

This presentation reviews the preimplantation genetic testing (PGT) options available for human embryos created via in vitrofertilization. These options include preimplantation genetic testing for aneuploidy (PGT-A), preimplantation genetic testing for monogenic diseases (PGT-M), and preimplantation genetic testing for structural rearrangements (PGT-SR). Attendees will learn about the processes, technologies, benefits, and limitations of PGT. The presentation will additionally address special considerations such as embryonic mosaicism and current events. Intended audience is the clinical genetic counsellor (primarily prenatal and pediatrics) who would be seeing patients who may be interested in PGT or who have established a pregnancy following PGT.

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Abstract Session
Friday October 23, 1:30 – 3:15 p.m.

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Beyond the Bubble: SCID newborn screening and management in Alberta
Friday October 23, 3:45 – 5:00 p.m.

Dr. Stacey Hume, PhD, FCCMG, ErCLG, Joint Laboratory Head, Edmonton Molecular Genetics Laboratory
Dr. Ross Ridsdale, BA, BSc, MSc, PhD, FACMG, DABMG, Biochemical Geneticist, Laboratory Director, Alberta Precision Laboratories
Dr. Sneha Suresh, MD, FRCPC, Assistant Professor, University of Alberta
Cowie family

Objectives:
At the end of this session, participants will be able to:

  • Define the harms and benefits of newborn screening from the lab perspective.
  • Evaluate the method used for SCID newborn screening.
  • Examine test results not previously anticipated prior SCID testing.
  • Design a preliminary safety management plan for an infant with a possible severe combined immunodeficiency after a positive TREC screen.
  • List 3 clues on family history significant for a possible history of immunodeficiency.
  • Identify the effects of duress and fear on patients’ emotional responses.
  • Summarize how newborn screening plays a paramount role in proactive patient care and management.

Dr. Ross Risdale’s section of the talk is the introduction: Newborn screening was developed by Dr. Robert Guthrie in the 1960 for phenylketonuria. This public health program has continued to evolve with respect to techniques and number of conditions screened for. Examples of currently screened conditions and benefits of early detection shall be discussed and used to highlight the Wilson and Jungner criteria for screening. It is important to understand the limitations and the potential harms of newborn screening. Harms of screening include false positive and false negative results. Effective screening must adapt to changes as new conditions become treatable and work to reduce harms.

This session will outline the test for SCID, identifying the types of immunodeficiencies the test will detect and not detect. It will also address some of the unexpected decisions we have had to make along the way with respect to the test algorithm.

Listeners will be able to understand the basics of clinical management for a infant with severe combined immunodeficiency as well as clinical clues for families with a possible immunodeficiency in their history. The target audience for this talk will be genetic counsellors and clinical staff who may be the first disclosing the diagnosis of primary immunodeficiency or SCID, and taking the initial family history for these patients.

Ian Cowie’s presentation aims to share the perspective of the patient experience in the clinical setting. As the parent of a child with a rare genetic disease, whom was a first-hand recipient of care from a genetics department, I hope to share the impact that this profession makes in patient care and outcome.

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Please note: Speakers were selected to present based on their area of expertise; however, the opinions of the speakers are not necessarily reflective of the opinions of the CAGC.