Saturday, November 21, 2015

Whole Exome Sequencing Clinic Optional Rotation

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

Wednesday, November 4, 2015

2015 National Society of Genetic Counselors Annual Education Conference

Recently, the genetic counseling students attended the National Society of Genetic Counselors (NSGC) Annual Education Conference.  Here are some thoughts from our second year students about their first NSGC conference!

"Meeting so many successful and experienced counselors and being able to discuss varying aspects of the field with them, as colleagues, was very empowering.” - Erin

“I was amazed and inspired by Kristen Powers, and her documentary entitled “Twitch.” Kristen shared her journey to get tested for Huntington’s disease, and had very thoughtful answers to the questions posed by audience members about her experience.” – Amy D.

“I was surprised by how much fun I had! I met so many incredible genetic counselors ranging from new graduates to experienced pros, being surrounded by so many amazing and accomplished people was absolutely inspiring. I am so grateful and excited to be a part of this field” –Nikki

"I was very inspired by the lecture about Roe vs. Wade and Down Syndrome Information Acts. It was so intriguing to hear from a panel of experts that included a lawyer and English professor. As a student who is interested in law and ethics and how they interact with genetic counseling, the interdisciplinary lecture was a perfect fit! By the end, most of us in the audience had shed a few tears and felt a true call to action to advocate for our patients.” -Becca

The conference in general was a great chance to meet GCs from around the country. Everyone was so friendly and excited to share advice with new grads as well as encourage us to apply for job opportunities.” 
–Amy B.

"The educational breakout sessions had a large variety of intriguing topics. It was an amazing experience to hear individuals at the top of their field explain revolutionary topics, debate ethical implications of technologies, and have general discussions regarding current and future practices. It is inspiring to see where our field has come from and what the future holds.”–Kerrianne

“I really enjoyed the session on CRISPR. The presenters raised many of the ethical debates and technical challenges of a new gene editing technology that may have a huge impact on the field. It’s important for GCs to be aware of these issues so they can be part of the conversation and help direct how this technology can be used responsibly.” 

“The NSGC conference really made me feel encouraged by the growth of the field. It was so great to see that there are many genetic counseling jobs out there and that they WANT US! It is a nice reminder that we have worked hard, and all have a very bright future ahead with endless opportunities.” –Kelly

“I enjoyed having the opportunity to hear from and talk to so many genetic counselors in various specialties with a variety of backgrounds. Being in the environment itself, surrounded by people who are so interested in genetics and the advancement of genetic counseling was a unique and fun experience.” -Laura

“I really enjoyed the lecture on newborn and fetal exome/genome sequencing and the ethical implications that these useful technologies have in that setting. It applied to my thesis, but was also just generally interesting”. – Tricia

“I thought Dr. Austin’s address was up-lifting and powerful. It was inspiring to hear such a strong woman’s vision for the future of NSGC and the field of genetic counseling.” - Kristin