As
some of my fellow classmates have previously mentioned, we each have the
opportunity to choose an optional clinical rotation in a specialty area that is
of interest. I elected to learn more
about the targeted exome sequencing that is ordered at the Children’s Hospital
of Pittsburgh (CHP) by working with Marianne McGuire, MS, CGC. Targeted exome sequencing looks at the entire
exome of a patient, but the laboratory then only reports the variants and
pathological findings in genes associated with the phenotype (or physical
symptoms) of that patient; this approach cuts down on incidental findings.
The
majority of the time spent during this rotation was dedicated to researching
the variants and pathological findings in the reports from the laboratory. This requires the utilization of a variety of
resources. For starters, I performed a
thorough review of the patient’s medical history and what testing had been
performed in order to know how relevant
certain suspected syndromes were within the context of that individual’s medical
history. Next, I researched the altered
genes and their associated syndromes.
The resources I used most often were the
Online Mendelian Inheritance in Man (OMIM) database, mutation-specific PubMed
articles, and GeneReviews. To learn more
about the specific genetic change, in silico models such as MutationTaster were
utilized. Another commonly accessed
resource was the ClinVar database, which is built by laboratory data to help
clinicians research the changes found in their patients. Using all of these resources and the
patient’s history, I sorted the reported variants into those that were not
likely causal and those that were likely causal for the patient’s condition. After this process, all of the variants and
research were presented to the ordering geneticist and he/she suggested
additional testing and referrals that needed to be performed based on the
findings. All of this research and
collaboration was made into an individualized presentation for each patient and
their family for when they came in for a genetic counseling session to discuss
their results. To wrap up each case, a summary
letter was created for the patient and their team of physicians detailing the
variations seen and the diagnoses found.
Another unique experience I had during this rotation was to enter
patient physical findings into an established research database for those
patients who were diagnosed with a specific rare syndrome based on exome
testing. I also had the opportunity to reach out to
some of the previously diagnosed families to see if they’d be willing to speak
with a newly diagnosed family about their child’s experiences since diagnosis.
This was certainly an incredible opportunity
to learn more about an amazing testing process, and some unique disorders.
-Erin Winchester, class of 2016
