Research Program Manager, GeneDx
Kirsty McWalter is a Director, Research, Medical Affairs at GeneDx based in Gaithersburg, Maryland.
Her team of genetic counsellors and genetic counselling assistants facilitate research that brings genetic test results to the medical literature. They offer opportunities for their client clinicians to participate in candidate gene collaborations, conduct general project development and review, and coordinate multiple internal and external research studies. Their goal is to partner with ordering clinicians in a collaborative manner, and to share their amazing data with the medical community.
In the past year, Kirsty's team have worked on over 60 publications, about two-thirds of which resulted in the reclassification of candidate genes to disease-causing genes. Ultimately, this means answers for families and clinicians.
Kirsty is involved in the National Society of Genetic Counselors and her professional interests include workforce issues, genetic counsellor training, and ethical issues related to genetic counselling.
Kirsty is currently collecting a group of individuals with CRELD1 genetic changes, in the hopes of learning more about the gene variants and clinical symptoms. They are collaborating with clinicians who have patients with variants to perform functional studies and develop a manuscript for publication.
The proposed outcome of the project is to have an article published in a scientific journal. The article will include de-identified (anonymous) information about the patients gathered, in the hopes of educating others about this gene and hopefully getting it classified as a "disease gene" (rather than a gene of unknown significance).