Your Genes, Your Family Secrets and Your Destiny
Sometimes I think we are so numb to hearing about this new genetic test or that one, that we forget the sheer impact—not only about the scientific explosion of it all but about the emotional and psychological impact it all means as well. I’m still utterly flabbergasted that our very essence—from our looks to our personality to our medical destiny—seems to boil down to the arrangement of four letter: A, C, T and G. They stand for large molecules, adenosine, cytosine, thymine and guanine. Their particular arrangement, all lined up and twirled about in pairs so that A always goes with T, C always with G, determine many many things about us. Or so that’s what this new science of genetic teaches us.
Oddly enough—and a little disheartening—is that we all share about 99.9 percent of our genes with each other. That means our uniqueness is really just based on a wee bit, some 0.1 percent of our genes. Worse, we share about 85 percent of our genes with mice, which means we are only a few base pairs—relatively speaking—from growing long tails and squeezing through little holes in the wall.
In any event, these are just a few of the fun facts I picked up from Dr. Robert Klitzman’s latest book, Am I My Genes. He also writes in his introduction that scientists think that roughly half of our DNA is junk, which I don’t believe. It may seem junky but it must have some loftier purpose that we have yet to identify. And while all of these tidbits are wonderful trivia to throw around at a cocktail party—if those are the kind of things your friends like to hear about—that IS not really the point of Klitzman’s book at all. I read it because I wanted to be up on the latest news of genetic testing. Little did I know that this book, or it’s grander theme, would hover with me long after I finished it.
As the Director of the Masters of Bioethics Program at Columbia University and a professor of Clinical Psychiatry there, Klitzman offers a unique perspective into this burgeoning field. He talked to patients who are at risk of inheriting genetic mutations that increase their likelihood of serious illness, specifically one of three diseases. He wanted to know whether they would get tested for the gene and how their decisions would impact the way they perceived themselves and their future.
As he writes, people’s response to their genetic information about themselves are a kind of “Rorschach test—interpreting this information in wide range of ways, based on their prior views and stories about themselves and other cultural and personal experiences.”
The book is a wealth of information and truly a must-read for anyone interested in the psychological impact of illness.
The illnesses he explored are:
1. Huntingtons Disease: A fatal inherited disease that strikes when you are in your 40s and 50s. Years before the disease kills you, you will suffer from discoordination, psychosis as well as cognitive and memory impairments. If either of your parent’s suffered from HD, you have a 50-50 chance of getting it. There is no prevention or treatment.
2. Alpha-1 antitripsin deficiency: This genetically inherited, enzyme-deficiency disease strikes the lungs and liver. If you find out you have the gene, you can take some steps to prevent or slow the full-blown illness by taking the enzyme that your body now has trouble producing, and you can avoid smoking and other pollutants as well as considering an organ transplant. If untreated, it is fatal.
3. BRCA1 and BRCA2 and Breast Cancer: These two genetic mutations account for only 5 to 10 percent of all breast cancer cases. About 40 to 60 percent of women with either of these genetic mutations will develop breast cancer.
I spoke with Dr. Klitzman recently—here’s a bit of our conversation:
1. What prompted you to write Am I My Genes?
When I was in training (to be a doctor) in 80s, my roommate was involved in diagnosing the first child ever diagnosed with HIV in the world. There was this kid with these weird symptoms and someone said, “Maybe it’s HIV.” We thought kids didn’t get it. THrough my training in New York City. More and more patients started having HIV. Many people wondered: how could these patients possibly cope with having a devastating, untreatable disease that they usually acquired through their own behavior? Why aren’t they all completely depressed? I wondered, and ended up conducting interviews and writing a book, Being Positive, about living with HIV. Patients said the hardest thing about being HIV-positive is whom to tell. Parenthetically, people would say, “I told my wife but don’t tell the other chicks I sleep with.” Or, “I tell my partners I tested negative but that was three years ago and I don’t tell them I got retested.” Do you tell people when you are sick and you are otherwise healthy?
I later wrote a book with Ron Bayer, Mortal Secrets: Truth and Lies in the Age of AIDS. We think that being “sick” means having symptoms. (Bayer is the co-director of the Ethics and Policy Core and a professor of sociomedical sciences at Columbia University) But many patients wrestle with other issues as well– when do you reveal the secret?
2. And how did you go from AIDS to genetic testing?
The two situations have similarities. Do you test with HIV or not? There was no treatment at the time for HIV, so people thought: why should I get tested? Similar issues come up with tests for genetic diseases: Should I get tested? Should I tell my sister whom I don’t get along with? Before I went to Yale for medical school, I also spent a year in New Guinea studying Kuru—which is basically the same as Mad Cow Disease, and was spread among Stone Age people in New Guinea through cannibalism. When someone died, their loved ones would eat them (making them susceptible to this infectious disease.) Women were the main mourners and thus participants in these cannibalistic feasts. As one woman told me, “This way I will always have part of my mother inside of me.” Yet I found women who had been at many feasts, and were healthy. They seemed resistant, and thought there must be some genetic resistance—which 20 years later we found out was the case. So I became interested in genetics. Then, when I went into psychiatry, I became interested in how people lead their lives. I began to interview people at risk of different diseases and how they cope, and what their stories were.
3. Did you change your notions of anything as you wrote the book?
Yes, in many ways, even though genes may be associated with a disease, patients still struggling wondering, is it luck that I got this mutation? Many doctors look at genetic tests as if these were pregnancy tests that give black and white, yes/no results—you either are or aren’t. But patients have difficulty interpreting these results, and integrating genetic information, which may be somewhat deterministic, into their lives. They want to feel they have control over their lives, but for many diseases genes raise the notion of fate. There is a great Indian metaphor, : Fate is the number of arrows you have in your quiver. How you shoot them and when is up to you. But in the end, there are just so many arrows. There are certain constraints.
Similarly, people want to know why they have, or may be get a disease. We may tell them, “it’s because you have this gene.” As soon as you say something about the future being to a degree predetermined, they want to know what that means. They can’t accept the notion of chance. Why did I get it and my sister didn’t? There must be a reason. It can’t just be a roll of the dice. We are not hard wired to accept that idea easily. But genes involve a lot of dice.
