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 the scientific explosion of it all but the emotional and psychological impact, 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 letters: 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, determines many many things about us. Or that's what this new science of genetic teaches us.
Oddly enough -- and a little dishearteningly -- 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 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 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 its 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 on 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 affect 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:
- Huntington's disease: A fatal inherited disease that strikes when you are in your 40s or 50s. Years before the disease kills you, you will suffer from discoordination, psychosis, and cognitive and memory impairments. If either of your parents 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 consuming the enzymes that your body now has trouble producing, avoiding smoking and other pollutants, and 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, but about 40 to 60 percent of women with either of these genetic mutations will develop breast cancer.
As Dr. Klitzman said:
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 hardwired to accept that idea easily. But genes involve a lot of dice.
For a more in-depth version of my conversation with Dr. Klitzman and his insights into genes, please visit my website, randihutterepstein.com.
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