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In 2014, Diana visited our genetics clinic. She was only in her early 40’s, but her mother had died of breast cancer at 42, and two of her aunts had received the same diagnosis at young ages. As we tested her for a panel of breast cancer gene mutations, she joked about her Irish heritage, of which she was clearly proud. But we discovered that Diana carried an Ashkenazi Jewish BRCA1 mutation that predisposed her to breast and ovarian cancer. During World War II, it turned out, her French Jewish family converted to Catholicism and made Ireland their home. Nobody had told her.
The secrecy was understandable. But it has major risks. In fact, one of the most important things I need to learn about my patients is their family medical history. Many illnesses — from diabetes and asthma to heart disease and dementia all — are at least partly hereditary. One recent study found that 33 percent of cancer diagnoses can be explained by genes. Alcoholism is as much as 60 percent genetic; schizophrenia occurs in less than 1 percent of the general population but in 10 percent of people who have a sibling or parent with the disorder. “What happens in your family is an approximation of what happens to you,” geneticist Joe Nadeau told New York magazine. “The conventional family history is still the best predictor of disease risk.”
For many patients, sharing this information could save their lives. If a patient’s family is peppered with alcoholics, I might advise him or her to avoid liquor. If a patient’s relatives have suffered from colon cancer, I’d know to look for gene mutations and prescribe frequent colonoscopies.
But few of us have an accurate understanding of what came before us, health-wise. Only one-third of Americans have ever tried to collect their family medical histories from relatives. And even when they do try, they can run into major problems. You probably know less than you think about your family’s predispositions.
Part of that is the fault of the medical profession. One study found that physicians devote just three minutes to asking family-history questions during a patient’s first visit.
Even when doctors ask, they may not get the right answers. Many patients don’t really know their families’ health histories. In some instances, relatives might never have revealed that they were sick, particularly if they struggled with a disease that carries a stigma. According to one study, 58 percent of psychiatrists said they wouldn’t tell family and friends if they suffered from a mental illness. Cancer advocate Doug Ulman wrote that he’s known many people to keep their illness under wraps because of “fear, ostracism and shame.” I’ve seen this in my family, too. My 94-year-old mother loves to talk about her father’s daily visits to speakeasies and his 1931 imprisonment for drunken driving. But she would never describe him as an alcoholic.
For the next portion of this piece, originally published in the Washington Post, click here.
