Clerkship Update: Medical Genetics

I just completed my 2-week rotation in Medical Genetics and it was an incredible experience. My first week consisted of clinics where I got to meet pediatrics patients with a variety of genetic conditions. During my second week, I was assigned to the in-patient service where we were consulted  by the neonatal and pediatric Intensive Care Units to evaluate newborns and toddlers.

What I enjoyed most: 

This is a very intellectual specialty that requires extensive reading around cases. I very much enjoyed coming up with a differential diagnosis of possible conditions. The best part of this rotation was getting to spend an hour or more with each patient as we require much of this time to work through family histories in great detail as well as conduct a very thorough physical exam looking for dymorphologies, skeletel dysplasias, and any other abnormalities that could signal a possible genetic condition. I also appreciated refreshing my knowledge about the different types of Genetic testing such as FISH (Fluorescent In Situ Hybridization), aCGH (array Comparative Genomic Hybridization) and karyotyping.

What I struggled with most:

There is a vast amount of information to know in Genetics such as various syndromes, which definitely poses a challenge! Genetics deals mostly with diagnoses and counselling of patients. Although being able to provide a diagnosis for a child’s condition was very satisfying and would assist parents in learning how to manage the condition going forward, it was also emotionally challenging to not have a cure or solution for their condition. I wished there was more I could do for these families!

My take home message: 

This rotation increased my knowledge and understanding of congenital conditions which I feel will be important to consider when  assessing patients in the future. Medical Genetics is a fascinating field and this rotation increased my appreciation for the molecular intricacies of the human body. It was also humbling to witness how just one single DNA mutation could result in severe disease. It reminded me that having good health is something we cannot take for granted.

Featured image: Plethrons-Basics of DNA

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