Sunday, November 06, 2005

The Doctor of the Future?

This weeks NYTimes Magazine has a cover story on a doctor working with Amish and Mennonite children with severe genetic defects, including a scary disease which in addition to being fatal makes your joints so rubbery they call it "The Pretzel Syndrome."

The doctor, D. Holmes Morton, certainly looks like a saint from the article. (And he's gotten similar coverage before in the Wall Street Journal.) He set up a clinic to help an isolated community at a time when his advisors were telling him to stay in pure research and he's used his field experience to develop a wealth of new treatments. Science as public service, field science, these are good things. We all like it when doctors help poor babies who are having seizures.

The article has another angle, though, which is less appealing: medical genetics will transform everything for the better. Sure, the article begins by talking about how medical genetics has promised too much
"The enthusiasm has dimmed," says Dr. David Ginsburg, a professor of medical genetics at the University of Michigan. "Many in the field have been accused of overhyping it."
But then it starts right away overhyping it.
"This really is the future," says Edward R.B. McCabe, co-director of the University of California at Los Angeles Center for Society and Genetics. "Genomic medicine will be predictive, preventive and personalized," meaning that treatment will be shaped by, and tailored to, each patient's DNA.
Of course, its easy to make medical genetics look good if your example is a doctor in a community that has been genetically isolated for a couple hundred years. The article doesn't use the phrase, but the Amish are dealing with inbreeding depression. It also helps the Times' example that the diseases they are looking at are caused by single mutations. In one case, a disease called glutaric aciduria Type 1 (GA1), the ailment not only has a single cause, but also has a treatment. GA1 is a metabolic disorder, and if you keep the baby away from the things she can't metabolize, she's better off. The other main disease the article tracks, pretzel syndrome, has a known cause but no known cure.

Still, you're thinking, once you know the cause, isn't it easier to find the cure? This is where the dangers of overhyping genetic medicine come in. The article briefly mentions that for a while Morton, the heroic doctor whose tale we are following, was planning on treating GA1 using gene therapy. For those of you who don't know, gene therapy is really a form of genetic engineering. Your genetic code is rewritten, but only to cure disease and only some parts of your body--not your gonads, so the alterations won't be passed on to future generations. It is rightly regarded as far less morally problematic than other forms of genetic engineering. But still, it is odd that the Amish, who don't even drive cars, were going to be among the first to rewrite their DNA.

In any case, the death of Jesse Gelisinger and the crash of the gene therapy hype made Morton move from using genetic technology as a possible cure to a tool for early diagnosis. He still pushes strongly for universal genetic screening for all sorts of shit. This is something I favor too, although I am more keenly away of privacy and discrimination concerns.

The thing is, we still have no reason to think that genetic medicine will provide a radical transformation in the treatment of diseases that aren't caused by a single mutation. Genetic medicine is good news for people like the Amish, groups with inbreeding depression. For that reason, it should be pursued. But hold off on promising stuff to everyone.


Anonymous said...

As a mother to one of the children diagnosed with pretzel syndrome...we are not amish. So far none of the children diagnosed are amish . We are mennonites. I find your comments about our dear children very rude . We searched years for answers that no doctors could give us. Dr Morton has given us answers and also we are now in contact with other parents who also have children like ours. Kendra

Rob Helpy-Chalk said...

I apologize if my comments were offensive or unclear. Glutaric aciduria Type 1 is the disease that is affecting the Amish. Pretzel syndrome affects other groups.

My goal in the post was not to in any way demean those who are suffering, but to warn about the dangers of overhyping genetic treatments. Geneticists like Dr. Morton have accomplished a great deal of good, but we should be wary of claims to "revolutionize medicine"

Sherry said...

Wow, as a Beachy Amish Mennonite mother of a child with rare eosinophilic gastroenteropathy and inoperable brain cancer, I found your post to be quite harsh in regards to the Amish and their children in general. I have to agree with Kendra. While you probably had no intent to write with such a slant, it most definitely came across that way. I hope you never have to walk a mile or 10 in our shoes. A little kindness goes a long way.