Author: Nina Gold, MD

In search of young medical geneticists

Nina Gold, MD, is Chief Resident of Medical Genetics at Boston Children’s Hospital.

During a quiet stretch of my final year in medical school, I read Sir Arthur Conan Doyle’s Sherlock Holmes stories. A master observer, the detective found secrets in wrinkles of clothes, tints of hair, scents of perfume, never satisfied until the truth was revealed. Sherlock was, simply, an expert diagnostician.

In the spring of 2014, I became the first student in my medical school to pursue residency training in a combined pediatrics and medical genetics program. Like Sherlock, pediatric geneticists are stalwart investigators. They are often called into a case long after other consultants and tasked with bringing a family’s diagnostic odyssey to an end. But unlike the emotionally obtuse fictional detective, geneticists must describe their findings with empathy and clarity to concerned families after they solve a mystery.

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