Dr. Aubrey Milunsky
Milunsky, codirector of the Center for Human Genetics at the Boston University School of Medicine, is also author of “Your Genes, Your Health: A Critical Family Guide That Could Save Your Life.”
Q. You write in the book that genetic mutations are far more common than most of us know.
‘There has been the idea that you’re born with all your genes and, well, that’s just it and there’s nothing you can do about it. Nothing can be further from the truth.’
A. All of us have genetic flaws in our genome. The current estimates are that each of us has not less than 100 different gene mutations. Most of the time and for much of our lives, we don’t know about them.
Q. These conditions aren’t always obvious?
A. We have this idea that if there is a genetic disorder it must be evident in childhood, but in fact many genetic disorders appear for the first time in adulthood.
Q. What are the implications of this? That people should get genetic tests to see if they have one of these disorders?
A. Physicians who graduated more than 12 years ago [before the map of the human genome was completed] have not been able to keep up with these incredible advances. There’s no primary care doctor who knows about all 2,500 DNA tests [now available]. It isn’t important that they do, but it’s important that they know how and where to get the information. And very few people at risk have ever seen a clinical geneticist.
Q. How do you know if you’re at risk for such a genetic condition?
A. The family history will be the first clue with reference to anybody who’s had certain types of cancer — colon cancer, breast cancer, ovarian cancer — or birth defects or intellectual disability, or a whole range of other different conditions which people don’t recognize as necessarily genetic, for example [blood clots in the leg]. We should all know our family histories to the extent possible.
Q. Ethnicity and race matter, too, right?
A. Simply being white for example is enough to determine that 1 in 25 to 1 in 29 are carriers of gene mutation for cystic fibrosis. Being Italian, being Jewish, being Armenian, Turkish, etc. No matter which ethnic group you choose, there are genetic mutations for which carrier tests are available by DNA.
Q. So, do you support wholesale genetic screening? Should we all go out and get all of our genes mapped?
A. No. People should realize that analysis of the entire genome is an extremely complicated affair. It’s inevitable that the information transmitted will provide information that is collectively uncertain and uninterpretable. All of this raises questions of “do you really want to hear this?”
Q. What about testing for conditions like Alzheimer’s for which there is no cure or even effective treatment?
A. Since about 90 percent or more of Alzheimer’s is not directly inherited, the question always comes up about wisdom of testing. Generally, the consensus is that testing for a disorder for which you can do nothing is not advised. If there is nothing to be gained [by knowing the genetics], then one can simply entertain sorrow.
Q. But you’re saying that for many genetic conditions, there is something you can do about it, like getting screened more often for cancer or getting early treatment for heart conditions?
A. There has been the idea that you’re born with all your genes and, well, that’s just it and there’s nothing you can do about it. Nothing can be further from the truth. People always think in terms of cure, but avoidance and prevention are sometimes even more effective than that.
Q. Knowledge is power?
A. This is the refrain I’ve heard for so many decades: “If we only would have known.” It’s really sad when you encounter these situations.