Holy moly it has been a while! My apologies for being so absent, I wish I had a better excuse rather than “UGH I LOVE MY LIFE, DO ALL THE FUN THINGS” but I really don’t!

School has been plodding along well, although now I’m deep into second year I can say it is very different from first year. Read: less classes = more rotation/work = okay let’s do this, I’m ready to conquer the world of genetic counseling! At the moment, we are in classes Monday and Friday and Tuesday through Thursday are rotation/work/off days. I’m busy all throughout the week with work and rotation so it really feels to me that I’m working more than a student right now. I’m feeling ready to graduate and be a real adult. With a salary. Pls. Debt to pay off.

We just finished up our first rotation this week. I was at the Beth Israel CF Center and also at Bellevue Hospital this round for peds and was doing a day at a week at each location. [For those of you following the Ebola outbreak – yep Bellevue was where Dr. Spencer was.. imagine how weird it was turning up to the hospital to six news crews all standing around the door.] Peds was great, I really enjoyed my time there and had an interesting dichotomy of autonomy where I was very independent at one site and only took family/medical histories at the other. I had a particularly touching moment one day at Bellevue where we were seeing a patient who had a clinical diagnosis of Angelman syndrome for results of genetic testing. We were having a discussion with the mother, who admitted she was feeling a lot of guilt for the diagnosis as we knew the causative mutation had come from her. We spoke for a while about how we have no control over the genes we pass down to our children. As we finished, her son reached over and gave her a big hug. There was not a dry eye in the room and I swear that situation spoke to just how much communication even someone who is non-verbal with intellectual disability is capable of.

Thesis/capstone projects are shaping up quite nicely. My group, as I may have mentioned, is doing a pilot study on an LGBT cultural competency curriculum for genetic counselors-in-training. We heard this week that we received the NSGC Student Research Award for this year, which we are really excited about! This will allow us to bring a subject matter expert in to help teach some of the curriculum. We have a Capstone Day coming up on November 24th where all the groups will be coming together to talk about their progress so I’m excited to present ours and hear about other groups! We had originally hoped to have our curriculum presented by the end of this semester but had to push it back because these things take time to do well. We’re aiming for end of January now.

Other highlights from the past couple of months include a class field trip to the New York Genome Center. The NYGC moved into its new digs in SoHo September 2013, after being located on the Rockefeller University campus for a number of years. It is a consortium of a lot of the medical centers/med schools, as well as some other scientific organizations, with the goal of putting genomic science right into the heart of medical care for useful clinical solutions to disease. We heard from some of the people who are working there right now and they are in the process of setting up a CLIA-certified lab (which means they can start doing clinical testing) which is very exciting! Since they opened they have only been doing sequencing on a research basis so this would be a big step! The whole organization sounds great and if you’d like to learn more I would recommend this talk from the president – Dr. Robert Darnell – about the future of genomic medicine that he gave to IBM, who NYGC is teaming up with: ow.ly/ElYpF

Outside of school life is great as well! I have way too many social events for my calendar at the moment and I’m going to the Alt-J concert tonight so it is possible to have a life outside of school even when you’re busy doing a thesis! But you don’t want to hear about my fun and adventures so I will say goodbye for now! Someone had requested that we do a post about what has changed in the program since Anne Greb, the new director, came on board so that will be coming down the pipeline soon but for now I will wish you all a wonderful (American) Thanksgiving with friends and family wherever you may be!

– Amber