More on The Gene

For my first post on Siddhartha Mukherjee’s The Gene, click here.

A sweeping tome such as The Gene deserves more than one post.

One of the most enlightening parts of the book is Mukherjee’s way of defining illness – not as an objective measurement but as a mismatch between a person and his or her environment. Something becomes an illness when it prevents the patient from reaching his or her desired goals. As usual, context matters.

ADHD, he cites as an example, would not have hindered our hunter/gatherer forbears. It might have even helped them navigate risky, hostile, and unpredictable environments. But today, we expect our children to sit still for long stretches of time in the classroom. Since ADHD can be disruptive to our current systems, we have come up with ways to diagnose and treat it.

I think the biggest elephant in the room about our increasing genetic knowledge is the answer to a deceptively simple question – “Ok. Now what?” Akin to the early detection conundrum in breast cancer, precise test results aren’t a solution. Although we detect cancers early, we don’t know which cancers are indolent and which will become deadly. Most importantly, if the cancer does metastasize, we can’t cure it. Likewise with the BRCA testing – we can tell a person of the increased likelihood of breast or ovarian cancer but we can’t say what kind, how lethal, or when it will happen. Indeed, there is a chance that the person carrying the mutation will never develop cancer. Risk reduction for these people often includes the complete removal of healthy breasts and ovaries. How valuable is the early detection if the Ok. Now what? options are limited?

I have a friend whose son has Down Syndrome, meaning he carries an extra copy of a chromosome. As of today, this is immutable. Prenatal tests can diagnose it but cannot predict what the eventual child’s life would be like or what his/her capabilities will be. If a pregnant woman finds out her fetus will be born with Down Syndrome her only remedy is abortion.

My friend is the fiercest Mama Bear I know and her son is thriving in a traditional school setting. It hasn’t always been easy but spending time with this special family is bound to make you a better person. Over the years I’ve asked myself why anyone would consider this boy to be ill or disabled. It seems just as reasonable to think that Down Syndrome might be a variation, like blue eyes, and not something that needs to be fixed or eliminated.

(NOTE WELL – I am not here to debate morality. I believe in a woman’s absolute right to make her own decisions. My bubble doesn’t include having walked in those shoes so I don’t pass judgment.)

The ancient Greeks passed along a multitude of valuable ideas and systems that shape our society such as a groundbreaking model of self-rule, the Olympics, and didacticism. Unfortunately, they also saddled us with this notion that there are objectively perfect forms. Of course if we believe perfection is a single, achievable outcome that exists out there somewhere, we’re going to chase it like Gatsby and his green light.

As discussed before, that can lead to downright evil outcomes like the Holocaust. Our ideas of what perfect means change over time, limited by both cultural norms and our inability to recognize the shortcomings of our own bubbles. Plato, the guy who talked about the perfectibility of forms, considered tallness to be perfect. Another philosopher in another society could come to the opposite conclusion. Since perfection is a matter of taste rather than a measurable objective, it is subject to all sorts of winds of change.

Given the unacknowledged limitations of our own bubble, it seems entirely possible to me that editing out genetic imperfections will bring unintended consequences. What else might we eliminate, either because we don’t full understand how all our genes work together or we ignore the full implications of so-called flaws? There are myriad theories about the imperfection of our ancestral geniuses. Michelangelo displayed symptoms of autism. Hemingway was bipolar. Einstein might have been dyslexic. Google it. There are plenty more.

I don’t mean to diminish real suffering. After all, Hemingway committed suicide at 61.

Before we start messing with traits we decide are undesirable, we need to understand the implications. Could we have had Hemingway’s brilliant writing without his mental illness or did his mental illness prevent him from achieving more?

Until we know the answer to that, we need to proceed with caution.

2 thoughts on “More on The Gene”

  1. Thanks, Katie, for your eloquent post here. This is certainly an important and provocative topic, and it’s a debate we have in the Ds community every time a new prenatal test comes out to spot Down syndrome in utero. In many ways, because Ds can be be detected via an amnio while so many other conditions can’t, it’s become the big bogeyman during that prenatal testing odyssey. And because the information handed out by doctor’s offices and the testing companies tends to be quite outdated, it paints a very dark picture of what life with Ds would be like. But that’s not at all reflective of our experience, or the experiences of many of the families we know through the DSAGC. Our kid may have more medical stuff than some of his peers, but he’s smart, funny, social, loving and stubborn, just like his siblings. And researchers are now figuring out that having a bonus copy of the 21st chromosome can mean some positive things, too. People with Ds have a higher risk of leukemia, but a much lower risk of many other kinds of cancer (breast, prostate, colon), and researchers have figured out that the 21st chromosome carries some cancer protections on it, so having three copies is a really good thing in that respect. Researchers who study the brain changes of adults with Ds are now using some of that information to help patients with Alzheimer’s (since the deterioration is similar), and some brand new research there could ultimately help slow the progression of both Alzheimer’s disease and the cognitive changes seen in older folks with Ds. Good medical care and better educational approaches and inclusion have changed things dramatically for people with Ds over the last generation, but now we need to make college and post-secondary training more accessible, and change the corporate mindset about the value of employees with developmental disabilities. Far too few people with Ds find meaningful, full-time employment, though plenty of them are capable of it. And that isn’t good for those individuals, or for society as a whole.

    1. One thing I should have mentioned about the book – Mukherjee points out that our reaction to the mismatch between person and environment is often to change the person even though an environmental change is a more reasonable idea. This sounds like a perfect example.

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