Independent Studies Projects

2014-2024

2024

Li, Miranda. Exploring the Impact of Receiving a Psychiatric Assessment for Patients with NF1

Melvill, Kenzie. Evaluation of the association between the DNA fragmentation index (DFI) and the frequency of segmental aneuploidies

Rokoszak, Vanessa. Doing no Harm: Exploring the psychosocial impacts of receiving secondary findings from whole exome sequencing

White, Ashley. Coping with unexplained recurrent pregnancy loss: An examination into the psyche, lived experience and perceived resilience of affected women

White-Brown, Alexandre. Harnessing AI for Early Identification of Rare Genetic Diseases: How 'ThinkRare' will Transform Genetic Testing Referrals

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2023

D鈥橲ouza, Yasmin. Genetic Basis of Inherited Retinal Dystrophy in Montreal, Quebec: A Large Cohort Study from a Single Genetics Service over a 6鈥恲ear Period

Fontaine, Myriam. Does the Prospect of a Clinical Trial Impact Decision-Making for Predictive Genetic Testing for Familial Amyotrophic Lateral Sclerosis (fALS)?

Kawar, Joud. Evaluation of the Perceived Benefits and Barriers to Oncology-Initiated Genetic Testing

by Oncologists in Quebec

Lessard, Mathieu. Diagnostic Yield of Exome Reanalysis in 10 Patients with Suspected Rare Genetic Disease and Unsolved Phenotypes

MacDonald, Stella. Exploring Interpretations of a Negative Genetic Test Result for Men with Prostate Cancer Receiving a Mainstream Model of Care: A Qualitative Study

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2022

Chu, Valerie听 Chu V et al. 2023.听The LGBTGC Student Experience: A Qualitative Study Exploring LGBTQ2S+ Genetic Counselling Students鈥� Relationships with Peers and Faculty in Graduate School

Winner of the 2024-2025 Jane Engelberg Memorial Fellowship (JEMF) Student Manuscript Award

Dang, Vi-An.听Thinking About Disability in Genetic Counselling Programs

Ediae, Grace. 鈥楾hinkRare鈥� - Exploring the Use of Artificial Intelligence to Identify Patients with Undiagnosed Rare Genetic Disease

Feng, Leila.听Assessing the Needs for a Mobile App for Individuals Living Remotely with Pediatric-Onset Cancer Predisposition Syndromes

Horowitz, Kayla听 horowitz_et_al._2024.pdf. Parents of Intersex Children/Children with Variations of Sexual Characteristics (VSC): Perspectives on Psychosocial Education & Support Needs

• NSGC Podcast episode featuring Kayla Horowitz:听

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2021

. Assessing the education of genetic counsellors and students regarding intersex healthcare

. Patient Experience of a Gynecologic Oncology Initiated Genetic Testing Model for Patients with High Grade Non-Mucinous Epithelial Ovarian Cancer

Dooley, Sean. Refining the Phenotypic and Cytogenetic Features of a Recently Described 16p13.3 Microdeletion Syndrome

Fotopoulos, Nellie. Bridging the Gap between Clinical Genetics & Psychiatry: Investigation on Perceptions and Genetic Literacy in Mental Health Professionals

. Genetic Counselling Outside of the Genetics Clinic: Where are we now?

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2020

Adjei, Pamela. Twice the reason: both genetic status and gender affirmation justify preventive surgery in female-to-male persons with inherited susceptibility to cancer

Castrataro, Connor. A Study of the Diagnostic Potential of Next-Generation Sequencing for CFTR in the Quebec Population

Enns, Emily.听 Enns E et al. 2021. Far and Wide: Provider uptake and acceptability of remote service provision for genome-wide sequencing in Canada. A substudy of the GenCOUNSEL Study

Hebert, Robyn. Performance of an eHealth decision support tool (MIPOGG) for identifying children with constitutional mismatch repair deficiency, DICER1 syndrome, Gorlin syndrome and Li-Fraumeni syndrome

Mistry, Alana. The role of private sector genetic counsellors in discussing the non-clinical uses of genetic information

Thomas, Marie-Jacqueline. Genetic knowledge recall and carrier status retention following carrier testing using an interactive online module in two unique populations

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2019

Alexandre, Jennyphane. Genetic counsellors鈥� comfort level and practices in discussing clinical trials for ocular genetic disorders with patients

Ells, Courtney. Peer Group Supervision Practices Among Canadian Genetic Counsellors

Hudon, Catherine. Apparently Isolated Mild Fetal Ventriculomegaly: A Scoping Review and Recommendations for Future Research

. MMR Universal Screening of all newly diagnosed endometrial cancers:

The MUSE Project - A retrospective analysis of universal MMR screening at the MUHC

McAdam, Alexa. Identification of a possible founder pathogenic GLDN variant associated with 鈥渓ethal鈥� arthrogryposis in Canadian Inuits: Implications for long-term survival and maternal health

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2018

Morgan, Amanda. Addressing Barriers for Rapid Cancer Genetic Counselling: Triage System for Treatment-Focused Genetic Testing.

Levy, Tess. Fetal Sex Discordance by Non-Invasive Prenatal Testing: Current Practices and Possible Explanations.

Varin-Tremblay, Camille. Lived Experiences of Young Adults with Down Syndrome and their Parents: A Pilot Study.

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2017

Dale, Breanne. NF1 and Me: What late adolescents need to know and what they have to say about their health, privacy and social life.

El Helou, Janine. A pilot study to implement psychiatric genetic counselling at the Depressive Disorders Program, Douglas Mental Health University Institute.

Harper, Patricia. Assessment of a Potential Meckel-Gruber Founder Mutation in a Canadian Aboriginal Population.

Shaevtich, Dana. Should Genetic Counsellors have a Duty to Warn At-Risk Relatives of their Genetic Risk? The Lived-Experiences, Practices and Opinions of Genetic Counsellors in Canada Regarding Non-Consensual Disclosure of Clinically Significant Genetic Test Resul.

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2016

Jensen, Kim. Identifying predictors of psychiatric disease in individuals who carry recurrent copy-number variations (CNVs).

Nguyen, Thi. Recurrence risk for autism spectrum disorder: A systematic review and perspectives for genetic counselling.

Pirjamali, William. Informed consent practices with whole exome sequencing.

Robertson, Carleigh. The experiences of transgender individuals in cancer genetic counselling:

A qualitative investigation.

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2015

Fan, Charity. Lysanne C et al. 2018 The Evaluation of an Interactive Computer-Based Educational Module for Carrier Screening in Individuals of Ashkenazi Jewish Descent: Data Collection, Analysis, and Clinical Implications.

Rae, Sonya. Is there a Duty to Warn At-risk Relatives of their Genetic Risk? A Legal Analysis and Survey of Canadian Genetic Counselling Practices Surrounding Non-Consensual Disclosure.

Silva-Smith, Rachel. Intrafamilial Communication about Hereditary Breast and Ovarian Cancer Syndrome in Orthodox Jewish Families: Development of an Exploratory Qualitative Study.

Thomas, Sonia. The factors associated with elective termination of pregnancy of fetuses with congenital diaphragmatic hernia in Canada: An 8-year analysis of the CAPSNet data.

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2014

Canales, Karen. Development of a genetic counselling resource describing genetic discrimination in the Canadian context.

Dempsey-Nunez, Laura. Genetic contribution and perceived causes for cancer in women diagnosed with synchronous ovarian and endometrial cancer.

Rummell, Sonja.听 Lysanne C et al. 2018听Designing a study to evaluate the efficacy of a web-based educational module prior to carrier-screening in individuals of Ashkenazi descent

Schiavi, Alicia. Assessing the use of a family history screening tool in a clinic-based sample of adult patients with sarcoma.

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Previously published

Sillon G, Drury S et. al. 2004The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992鈥�2015.

Loder et al. 2009听Spinal Hamartoma with Severe Kyphoscoliosis - A rare case of spinal mass in a fetus.

Vanneste et al. 2013Effects of second language usage on Genetic Counseling training and supervision.听

Genetics and Personal Insurance: the Perspectives of Canadian Cancer Genetic Counselors

Lysanne C et al. 2018Online module for Carrier Screening in Ashkenazi Jewish individuals compared with in-person genetics education: A randomized controlled trial.