My Genes

I had my doctor's appointment this morning. I hadn't been to the doctor in two years and requested a full physical. Sitting in the waiting room, fielding text messages and reading a fantastic short story by my friend George Ducker, I didn't feel very anxious. Usually I tend to feel a little apprehensive, a little emotional, when I visit the doctor. I spent ten years in and out of the hospital with my parents.

Even as I checked in - weight, blood pressure, etc. - I felt calm and composed. Even as I sat in a gown on the exam table waiting for the doctor I felt fine, my thoughts on this past weekend, this coming week. It didn't take long for the doctor to appear. She was young and calm and smart. It's always interesting to be a patient of any sort these days, now that I am a clinician myself. I observe such different things, the appraisal, the wording, the approach, the documentation. I liked that she didn't seem to be in any rush at all, taking a seat, making a lot of eye contact, letting me finish sentences. Ten years of hospitals have shown me that a great many doctors are generally lacking in these attributes.

Before long her questions turned to family history. Mother, cancer. Father, cancer. Aunt, cancer. Uncle, cancer. Grandmother, cancer. It always feels slightly dissonant to say those words out loud to a stranger. My parents both died of cancer. I'm an only child. She listened carefully, took notes, met my eyes. We talked about preventative measures, appropriate ages for appropriate screenings. It was fine. I felt calm, composed. I didn't even flinch when my blood was taken, watched quietly as the needle slid into the vein, as three different tubes filled with a rush of dark crimson.

When I left I drove to work, the streets wet beneath my tires. It rained last night. I woke at 6 this morning, the sound of rain against the windows. It was lovely, laying in the dark, warm beneath the covers, listening to the gurgle of water streaming through the gutters. I drifted in and out of sleep, dreams snagging against my consciousness, the cat purring lightly against my abdomen.

I haven't been at work for almost a week. The office was cold when I came in. I turned on the computer, my desk lamp, the overhead lights, the radio, listened to messages, checked email, sipped coffee. After a while I left my desk to walk up to reception to see if any referrals had come in for me. When I came back my cell phone was blinking. A missed call, an unknown number. I pressed the voicemail key hard with my thumb, lifted the phone to my ear.

It was the doctor calling, the one I had just seen. My stomach dropped. What could she have possibly found in the last hour? Nothing. She said that she had just been doing the paperwork for my file and decided that I would be a good candidate for genetic testing. She said that she understood that this idea might be a little sensitive for me but that she was going to go ahead and make the referral and that I could think about it. I immediately started crying. I stood up before I'd even hung up the phone and closed my office door. God, genetic testing. Fuck. I don't even know what that means.

I took a deep breath, wiped quickly at my tears and googled it. Genetic testing.

An accurate gene test will tell you if you do or do not have a disease-related gene mutation. Nearly everyone with the familial adenomatous polyposis genes will - unless he or she takes effective preventive measures - someday develop colon cancer.

My mother had stage four colon cancer when she was diagnosed. My grandmother had colon cancer as well but caught it early, had the tumor removed, and thirty years later is still going strong.

Persons in high-risk families live with troubling uncertainties about their own future as well as that of their children. A negative test - especially one that is strongly predictive - can create a tremendous sense of relief.

I don't even know if I buy that. I have seen so many bad things happen to so many people - not just cancer but horrific accidents and psychological trauma -  that I don't know if getting a negative test result would really make me feel less at risk for certain peril.

A positive test can also produce benefits. It can relieve uncertainty, and it can allow a person to make informed decisions about his or her future. Under the best of circumstances, a positive test creates an excellent opportunity for counseling and interventions to reduce risk. The prime example is colon cancer. When tumors are caught early, chances for survival are greatest, and screening potentially could prevent thousands of cancer deaths a year.

Okay. Maybe.

Psychological impact. First, there are the emotions aroused by learning that one is - or is not - likely to develop a serious disease. Many people in disease families have already seen close relatives fall victim to the disorder. The news that they do indeed carry the disease gene can elicit depression, even despair.

Right.

Few studies to date have looked directly at the outcome of gene testing for cancer. One study found that, after 3 to 6 weeks, the women identified as gene carriers experienced persistent worries, depression, confusion, and sleep disturbance. Even half of the noncarriers reported that they continued to worry about their risk status.

Right. Again.

Privacy. Our genes hold an encyclopedia of information about us and, indirectly, about our relatives. Who should be privy to that information? Will a predisposition for cancer, for instance, remain secret - or could the information slip out? The concern is that test results might someday be used against a person.

Wow. That's almost scarier than any other aspect of it.

I'll probably do it. I'm absolutely curious. Although I can imagine some unsettling psychological ramifications, I can't imagine them to be anything more than I'm able to handle.

Readers, feel free to weigh in.

Comments

[Shaw]

Despite all of our technological advances and such, I truly don't think that there's a test out there that's 100% accurate for anything. Just because it says one thing, it could mean the other.

But I think you should go ahead with it. It's scary - but its part of taking care of your health...

[Cynth]

It's scary, but isn't it always flattering and compelling on some level to take tests that tell us things about ourselves? Maybe you could work up to it by starting with Myers-Briggs, IQ, Rorshach, consulting a psychic, getting an astrology chart done, etc...

[Claire]

Yeah, I'm thinking I'm probably going to do it...but I still have some concerns. I'm actually more concerned about my health information being protected than about finding out that I may have the cancer gene.

And actually, this quarter through my psych testing class, I've had to take every possible test. I NEVER want to have to take the Wechsler again. Total nightmare.

[Nathan Alexander]

Do you still talk to your brother?

[Claire]

I have a half-brother that I'm in contact with, yes...but he's on my Dad's side and all the colon cancer is on my mother's side...

[Jacob]

Have you already gone through with the testing? If not, I would talk to your doctor about how to ensure the privacy of the results--for example, paying out of pocket rather than through your insurance, somehow having the test not linked to your name or social security number. If these sorts of measures are possible for, say, HIV testing, I see no reason that you can't make your genetic testing results similarly private. Just remember, insurance companies are bottom-line entities, and they will use every scrap of information at their disposal to reduce what they pay out.

Nice blog. You seem humble and clear sighted.