Medicine
Genetic guilt and disease susceptibility testing in kids
When my son developed symptoms of asthma at age three, I found it hard to understand why my wife, who also has asthma, expressed a profound sense of responsibility for his illness. Of course, a large component of asthma is inherited, but who was to say that my son's condition wasn't as much or more the result of being raised in a city, or other exposures that we couldn't anticipate or control? (It certainly wasn't from cigarette smoke, which has always been banned in our household.) But a year later, when relatives and teachers began noticing that one of my son's eyes would occasionally slip out of focus, I felt the first twinge of guilt. That sensation only increased after we took him to an ophthalmologist and confirmed his diagnosis of strabismus (the technical term for "lazy eye"). It was the very same condition whose correction had required two eye surgeries when I was eight and twelve years old. And alas, as I suspected, the medical literature indicates that strabismus is inherited, too.
Many parents of young children are fortunate enough not to have any outward signs of inheritable disorders to pass on to their offspring. Common chronic conditions such as diabetes, coronary artery disease, and cancer often don't manifest themselves until middle age or later, by which time the children have become adults themselves. However, genetic testing for these types of conditions is now being marketed directly to consumers, and parents might theoretically order these tests for their children to give both a better idea of what health problems may lie ahead.
The journal Pediatrics recently published an analysis of an online survey of 219 parents enrolled in a separate study of the effect of genomic health risk profiles on health-related behaviors (which I described in a previous blog post). Overall, parents expressed moderate interest in obtaining genetic testing for their children, with the most interested parents being those who would choose testing for themselves; placed a high value on genetic knowledge for its own sake; anticipated feeling good if their children were found to have reassuringly low chronic disease risks; and felt capable of modifying their child's lifestyle if needed.
Putting aside for a moment the limitations of this particular study, which may not be representative of the attitudes of the general population toward genetic tests, it's interesting to consider the larger question of what we gain or lose by predicting our medical futures, and those of our children, with very imperfect tools. It's one thing to detect early signs of incurable diseases, such as Alzheimer's dementia (personally, I'll pass), but learning that one has a higher risk of a future preventable "lifestyle" disease might potentially motivate that person (or his parents) to pay more attention to diet, physical activity, or other behaviors to counteract that risk. I write "potentially" because as far as I know, no one has even come close to proving that the possession of genetic knowledge is self-motivating, rather than self-defeating. (If I'm destined to develop diabetes anyway, why not have that extra slice of cheesecake now?)
Perhaps there will be a day when a detailed map of one's genome will have at least as much predictive value as I.Q., or SAT or MCAT scores - some, but not a great deal. Until then, I will continue to restrict screen time, send my kids outside to play, feed them lots of whole grains, fruits and vegetables, and cross bridges of future health episodes when we come to them.
-
Precision Medicine, Trade Policy And The Cost Of Drugs: Benefiting People Or Profit For Business?
In a recent (January 29, 2015) New York Times Op-Ed, Mayo Clinic anesthesiologist Michael Joyner writes that “’Moonshot’ medicine will let us down”. What Dr. Joyner is referring to is what is now most commonly called, particularly in the large...
-
Palliative Care Makes A Difference At All Ages
A troubling study published earlier this year in the Annals of Internal Medicine reported that patients and their caregivers were more likely to report pain, depression, and periodic confusion during the last year of life in 2010 than in 1998. This...
-
Healthy Habits Are Hard To Maintain - Even If You Know What Lies Ahead
"It's about that time of the month," a physician colleague of mine said to me a few days ago, "when our patients start to let go of their New Year's resolutions." That is, all those well-intentioned promises we make to ourselves year after year...
-
Care Management For Chronic Health Conditions
When my three-year old son began having recurrent coughing fits and shortness of breath after exercise, my wife and I knew the probable diagnosis. We made an appointment with our family doctor who confirmed that our son, indeed, had asthma. After prescribing...
-
Are Obesity And Smoking Contagious?
The Framingham Heart Study is perhaps the most famous long-term medical study. As every medical student learns, starting in 1948, the lifestyle habits of thousands of residents of Framingham, Masschusetts were followed to determine important risk factors...
Medicine