Dr. Paul Yong received a MSFHR Health Professional-Investigator Award for his study, Sexual pain in endometriosis: Role of somatic mutations, which looks at the role of gene mutations in endometriosis sexual pain. This research could help to influence the incorporation of gene mutation testing into clinical care for endometriosis to promote more individualized care.
When did you first become interested in the topic of endometriosis sexual pain?
When I joined Dr. Catherine Allaire and Dr. Christina Williams at the BC Women’s Centre for Pelvic Pain and Endometriosis, I realized that endometriosis-associated sexual pain was common, but we did not fully understand its causes or how best to treat it. At the same time, I was working at the VGH Multidisciplinary Vulvodynia Program, which focuses on sexual pain associated with vulvodynia. Both clinical experiences led me to reflect more on the pathophysiology of endometriosis sexual pain, and on how to approach it in a more systematic way.
What led you to study gene mutations as a means for addressing this pain?
This arose through a collaboration with the OVCARE team: I would particularly note the leadership and mentorship of Dr. David Huntsman, the partnership of Dr. Michael Anglesio and Dr. Blake Gilks (who are Co-PIs on our recent CIHR grant), the encouragement of Dr. Diane Miller, and the support of the Gynecologic Cancer Tissue Bank via Dr. Jessica Mcalpine. We began biobanking specimens from our endometriosis surgeries, and we collectively became interested in deep endometriosis, a subtype that has invasive tumour-like qualities, yet is benign. We wondered whether somatic driver mutations, which are present in cancers, could also be present in this subtype of endometriosis (and perhaps other subtypes as well).
Could you speak briefly about the novel techniques you are using to analyze samples?
Briefly, this involves isolating endometriosis cells from surgical samples (via micro- or macro-dissection), isolating DNA, and then performing next generation sequencing and bioinformatics analyses to identify somatic (non-inherited) mutations in the endometriosis cells. This work is done with a local company, Contextual Genomics. We are correlating these mutations with anatomic and clinical variables, and also with local protein expression through a collaboration with Dr. Mohamed Bedaiwy (Co-PI).
The MSFHR Health Professional-Investigator Research Award is focused on implementation and using research to improve patient outcomes. How do you intend to mobilize the results of your study?
In addition to traditional knowledge translation (publications and conference presentations), we are exploring new approaches to mobilize research results. First, we have a Patient Research Advisory Board, which partners with the research team in the design, interpretation, and application of the research. We also disseminate our research through a quarterly online newsletter for patients, as well as the annual Celebration of Hope at BC Women’s. Furthermore, we have a new collaboration with a KT expert, Dr. Fuchsia Howard (Co-PI), who will lead qualitative studies to inform an online patient education tool for sexual pain in endometriosis.
How do you think that these findings will benefit patients?
If somatic driver mutations are associated with sexual pain in endometriosis, then we may be able to use drugs targeting cellular pathways associated with these mutations, in order to provide a non-hormonal treatment alternative for women with endometriosis. Moreover, we envision that the study of somatic mutations in endometriosis may lead one day to a novel genomics-based classification for endometriosis, a condition that affects 10% of reproductive-aged women.
I would like to end by thanking and acknowledging our research coordinator, Heather Noga, and all our trainees, without whom this award would not have been possible.