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 and improving access to genetic counselling service provision.
GenCOUNSEL: Optimization of genetic counselling with clinical implementation of genome-wide sequencing (GWS). This is a four-year project that will investigate the workforce need, different models of genetic counselling, genetic counselling with GWS in different patient cohorts (newborns, pediatric and adolescent), private (out of pocket) pay for genomic testing, integration of genetic counsellors into different fields of practice and research into professional regulation of genetic counsellors in Canada.
Genomics and Rare Disease: I am very interested in “finding the answer” for individuals with suspected genetic disorders by facilitating genomic testing and supporting families with appropriate genetic counselling. My work involves rapid genome-wide sequencing in the neonatal intensive care unit at BC Women’s Hospital and older children followed at BC Children’s and Women’s Hospitals. Previous work focused on a severe multi-system disorder: Ritscher-Schinzel syndrome.
Congenital Malformations and Skeletal Disorders: I am very interested in determining the frequency and causes of birth defects, in particular those that involve the skeleton. My current research program is developing classifications of limb and skeletal disorders (e.g. split hand foot malformation), identifying underlying mechanisms and exploring the impacts of skeletal disorders and limb deficiencies on families.