“It Is What It Is”
Authors: Jan C. Oosterwijk
Journal: Journal of Clinical Oncology (2016)

Mark looked at me shyly through his oversized Elvis Costello–style glasses. Was he feeling embarrassed by his own reply, or just waiting for my reaction? He was sitting between his mom and dad, wearing a T-shirt with a huge Minion print. His braces showed when he smiled, something he does often in a disarming way. Over more than 20 years of working in the field of hereditary cancer as a clinical geneticist, I have witnessed many scientific developments and have met thousands of patients and families who were referred for genetic counseling. Routine becomes inevitable, but every now and then, there is someone or some family that sticks in mymind. Cycling home from the hospital at the end of that September day, I tried to figure out what it was in Mark’s story that had moved me. I first met this bright teenager, together with his parents, when he was referred by his general practitioner (GP) to our Family Cancer Clinic for genetic counseling and DNA testing. A genetic trait runs in the family that causes skin tumors, gynecologic problems, and kidney cancer. They know how the family history has evolved over the past 5 years and that Mark’s mother carries a fumarate hydrase mutation that causes hereditary leiomyomatosis and renal cell cancer (HLRCC). In the past 25 years, the notion that cancer can be hereditary has moved from an academic discourse among geneticists to mainstream modern medicine. The option of genetic counseling and testing is now part of many protocols in clinical oncology. What has made the difference and rewritten the script of patient-doctor interactions in hereditary cancer is the discovery of the BRCA1 and BRCA2 genes. Suddenly, a cancer that is all too common and, therefore, familiar to almost everyone could be hereditary, and it could affect you, your mother, or your cousin. The broader result is that people are now familiar with the concept that any cancer can be hereditary. Another consequence of the discovery of the BRCA genes is that breast surveillance and preventive surgery have become options available to proven mutation carriers. This means that a genetic predisposition is no longer synonymous with ill fate; it has become something carriers can act upon. Angelina Jolie’s revelations of her preventive surgery were the finishing touch that further increased public awareness. It is this actionability that led Mark’s mother to ask their GP for a referral for genetic testing. Mark’s mother had her uterus removed 3 years ago, and her kidneys are screened every 6 months. Mark is 13 years old and has always been in good health, but he has been suffering from headaches lately. His mother is worried, because Mark’s cousin died of renal cancer a few years ago at the age of 18, and this event still echoes through the family. I cannot help noticing thatMark’s 18-yearold sister is absent at this first consultation. I know she has not been tested. I try to divide my attention between Mark and his parents and seek to adapt my language to that used by teenagers. Does it help that I have kitchen table conversations with my own, slightly older, kids? Things are “chill” or “uncool,” jeans must be skinny, and social media is the world as they know it. His parents are worried, but what is Mark’s point of view? Has he given much thought about it? Can Angelina Jolie be a role model for a 13-year-old boy? “So Mark, can you tell me what you know of this disease that runs in your family?” I take off my reading glasses, smile like he does, and try not to make it sound like a test. Mark quickly looks at his mother, who nods encouragingly. Mark starts to tell me what they had been discussing at home: that his uncle is being treated for painful skin problems, that his mother had an operation, and that the death of his cousin had a large impact on the family. He knows that before he is 18 he will have to start with some kind of medical checkup. “That’s why we’re here,” he says. And yes, he thinks this genetic thing is a bit scary. His parents are listening while he speaks, and I think I see a mixture of pride and sorrow in their expressions. I compliment Mark on his description. “It must be a tough decision to make for the three of you,” I continue after a short silence. They all agree but in slightly different ways. Mark’s father