Last year, when I ranked
genetic counseling programs, I considered each program carefully. I thought
about what department the program was part of, the logistics of coursework and
clinical rotations, distance from home and of course, finances. The opportunity
to pursue a work-study position while attending Pitt’s genetic counseling
program was one of many features that drew me to the program. Having worked in
an academic lab for the last few years, I was concerned I was “behind” on
hands-on clinical experience, so I spent my first few months in Pittsburgh
adjusting to being back in school and looking for genetic counseling assistant
jobs. I also decided to reach out to Dr. Kelly Bailey, a physician and
researcher at the Children’s Hospital of Pittsburgh (CHP). We were introduced
by a mutual colleague who knew we shared an interest in sarcoma and I was
hoping she could help me navigate the sarcoma/cancer clinic setting in
Pittsburgh.
Dr. Bailey’s
research focuses on Ewing sarcoma, a rare childhood bone and soft tissue
cancer. She is also interested in using patient-derived primary tumor cells as
a tool to investigate novel therapeutics and tumor biology.
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| Children's Hospital of Pittsburgh |
When I met with
her initially, Dr. Bailey put me in contact with the physician and genetic
counselor who run the Pediatric Cancer Predisposition Program at CHP. I asked
if they were looking for a student to help with any aspect of the clinic but
alas, I was out of luck. I did, however, begin working with them on a thesis
project. While I had set out to find a job, a thesis was the next best thing
and I mentally checked it off my list.
Time passed,
classes and assignments demanded my attention and I stopped looking for work. Then
one day I found myself back in Dr. Bailey’s office. She had a new clinical
project in development that was also interesting from a genetic counselling
perspective. She offered me a position in her laboratory as a research
assistant and I accepted.
As a research
assistant, I work on multiple projects in the lab using molecular biology
techniques that are also used in clinical genetics laboratories. Currently, I’m
working on a project that involves RNAseq of patient tumor samples to determine
the expression patterns before and after treatment with a novel drug. The goal
of a project like this is to discover the mechanisms by which drug treatments
or specific genetic mutations lead to tumor cell death. If we can elucidate
these mechanisms, we can design novel cancer treatments.
With the exception
of sarcomas diagnosed in patients with Li-Fraumeni syndrome, sarcomas are not
typically considered hereditary tumors. However, as the field of genetics
expands, and more paired patient tumor and germline DNA are sequenced, we are learning
more about what genetic changes drive these rare tumors. Recently, we reported
a patient with Ewing sarcoma who has a germline mutation in a gene called BARD1
– one of BRCA1’s binding partners (Venier, R.E. et al., 2019. Pediatr Blood
Cancer PMID: 31157509). Further, during the genetic counseling session, we
discovered a paternal history of early onset breast cancers. While this is just
the tip of the iceberg, there is evidence from other groups that suggest Ewing
sarcoma may have a higher hereditary component than originally thought. Being a
part of this project has been exciting; it shows the importance of
collaboration between multiple disciplines including oncology, genetics,
pathology, and research. Case studies can provide a “jumping off point” for additional
projects in the lab and in the clinic that aim to further understand the
potential hereditary component of Ewing sarcoma and other cancers.
My laboratory
experience has provided me with a unique perspective. I have a detailed
understanding of the molecular genetic techniques used to facilitate clinical
tests because I’ve designed and completed the experiments myself. It’s also valuable
to have something familiar to do at work (extract RNA, take care of cells, run
westerns), especially during the first few months when I was still adapting to
a new city and being back in school. Now that I’ve begun my clinical rotations,
I’ve discovered that I’ll have no problem getting that hands-on clinical
experience that concerned me. This work position is providing a fantastic
opportunity for me to bridge the gap between the bench and bedside. In my
experience, not only does translational research bring cutting edge science to
the clinic, but it motivates multidisciplinary teams to strive to find the best
treatments for their patients. Working with an incredible physician/scientist
like Dr. Bailey as well as her colleagues at CHP has been a great experience
and I’m excited for the next year of research!
Rose Venier, Class of 2020
