Genetic Counselor Quotes

McKusick's belief in this paradigm-the focus on disability rather than abnormalcy-was actualized in the treatment of patients in his clinic. Patients with dwarfism, for instance, were treated by an interdisciplinary team of genetic counselors, neurologists, orthopedic surgeons, nurses, and psychiatrists trained to focus on specific disabilities of persons with short stature. Surgical interventions were reserved to correct specific deformities as they arose. The goal was not to restore "normalcy"-but vitality, joy, and function. McKusic had rediscovered the founding principles of modern genetics in the realm of human pathology. In humans as in wild flies, genetic variations abounded. Here too genetic variants, environments, and gene-environment interactions ultimately collaborated to cause phenotypes-except in this case, the "phenotype" in question was disease. Here too some genes had partial penetrance and widely variable expressivity. One gene could cause many diseases, and one disease could be caused by many genes. And here too "fitness" could not be judged in absolutes. Rather the lack of fitness-illness [italicized, sic] in colloquial terms- was defined by the relative mismatch between an organism and environment.

Genetic researchers decided to follow a group of 200 Spanish teens who were on a 10-week quest to battle the bulge. What geneticists discovered was that they could actually reverse engineer the campers’ summer experience and predict which of the teens would lose the most weight depending on the pattern of methylation—the way their genes were turned off or on—in around five sites in their genome before summer camp even began.7 Some kids were epigenetically primed to lose the bulge at summer camp while others were going to keep it on, despite diligent adherence to their counselors’ dietary protocol.

There are certain people who are just genetically made to get up at four in the morning and wake everyone else up. They usually become scoutmasters or camp counselors.

At least I am crying in a hallway full of strangers who understand. They don’t even look at me, that’s how much they understand. When you are familiar with pain and grief and genetic counselors there’s no need to stare. I get it. I’m just like everyone else here, trying to stay positive while clutching folders full of bad news.

Genetic counselors are a combination of counselor, educator, detective, technical validator, technical translator, psychologist, and therapist (and there is a global shortage, if you’re looking for a job).