Overview

I am a PhD geneticist and board certified genetic counsellor. My research interests include: rare disease, genomics, congenital malformations (in particular, skeletal and limb anomalies), genetic counselling and health services implementation science. I am committed to advancing the academic field of genetic counselling.

Research

GenCOUNSEL
Optimization of genetic counselling with clinical implementation of genome-wide sequencing. This is a four-year project that will investigate the workforce need, different models of genetic counselling, integration of genetic counsellors into different fields of practice and research into professional regulation of genetic counsellors in Canada. GenCOUNSEL is the largest research genetic counselling grant ever awarded. (https://www.bcchr.ca/GenCOUNSEL). A related comment article was published in Nature Reviews Genetics (2018) The importance of genetic counselling with genome-wide sequencing (Elliott and Friedman).

CAUSES Clinic
CAUSES Clinic is embedded in a set of interdisciplinary research activities that will provide the evidence needed to justify provincial funding for genome-wide sequencing as a regular clinical service for patients with severe undiagnosed diseases.

RAPIDOMICS
I led the development, funding, ethics approval and implementation of a neonatal rapid genomic sequencing pilot project in the Neonatal Intensive Care Unit at BC Women's Hospital (funded by Genome BC and the Provincial Health Services Authority) – “RAPIDOMICS." Related publications: Smith, du Souich, Dragojlovic, CAUSES, RAPIDOMICS and Elliott: Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit – published in the Journal of Genetic Counselling and Elliott et al. - Rapid genome-wide sequencing in a neonatal intensive care unit: Successes and Challenges (published in the European Journal of Pediatrics, 2019). We are also conducting a detailed health economic study of rapid sequencing in the NICU.
Our team is currently studying genetic counselling issues in families who undergo rapid sequencing in the NICU at the pre- and post-result stage.

Skeletal Disorders
One of my primary research interests involves developmental abnormalities of the skeleton, in particular the limb. Split hand foot malformation (SHFM) is one example of a limb deficiency disorder. It is highly variable – both phenotypically and genotypically. Some affected individuals have a very mild form that may result in no missing digits and only affects one limb; whereas others may have a severe form that affects all four limbs. The existing classification systems for SHFM do not encompass the full phenotypic spectrum. I am currently developing a new classification system for SHFM and am collaborating with other investigators to determine the genetic mechanisms in affected patients. I am also investigating how patients and families deal with limb deficiencies. I am very interested in further understanding the interplay between the vascular and osseous systems within the developing limb.

Grants

Molecular Characterization of Skeletal Disorders in Manitoba Patients, Manitoba Institute of Child Health, Principal Investigator

Phenotypic and Genotypic Characterization of Ritscher-Schinzel Syndrome Patients, Manitoba Medical Services Foundation, Principal Investigator

GenCOUNSEL: Optimization of genetic counselling with clinical implementation of genome-wide sequencing, Genome Canada

RAPIDOMICS: Rapid sequencing in the neonatal intensive care unit, Genome BC

Honours & Awards

Top poster award 2016 David W. Smith Meeting on Malformations of Morphogenesis (Elliott, When Developmental Fields are not Respected: The case of monodactylous split hand foot malformation (SHFM))

Top abstract award 2017 American Clinical Genetics and Genomics Meeting (Elliott et al., Interpreting the Interpretation: The CAUSES Research Clinic Experience), a study that investigated the discrepancies between laboratory reporting and research classifications in patients who have undergone genome-wide sequencing.

Reviewer’s Choice abstract award 2018 American Society of Human Genetics Annual Meeting (Elliott et al., Blended Phenotypes: An Interesting subset of the first 400 patients of the CAUSES Research Study).

2018 Canadian Association of Genetic Counsellors National Award: Professional Practice, Innovation and Advocacy Leadership Award

Research Group Members

Emma Blanche, Research Assistant
Valerie Chu, Research Assistant
Courtney Cook, Undergraduate Student
Alivia Dey, Research Staff
Bailey Falkner, Research Project Assistant
Peter Grant, Graduate Student (Medical Genetics)
Alice Virani, Co-Investigator Project: GenCOUNSEL
Tasha Wainstein, Research Assistant