Treating the Amish
A good article in the NYTimes magazine about Holmes Morton, a graduate of the same residency as me.
Morton has set up a clinic in Lancaster, PA, home to many Amish, where he treats primarily Amish and Mennonite kids, focusing on the many genetic diseases present in these communities.
Morton made the simple observation that at least one common disease, glutaric aciduria type I, is easily treatable if diagnosed early, but if untreated, it leads to irreversible mental retardation. Treatment basically involves supplementation of sugar by IV during illnesses (e.g. gastroenteritis). Unfortunately, the Amish kids were often not diagnosed until they were neurologically devastated. The families, who don't have insurance, run up huge medical bills.
He started the Clinic for Special Children which helps make diagnoses BEFORE the kids get really sick. The kids do remarkably better, don't need outrageously expensive care and everyone is happy.
Read the whole thing, he is an inspirational guy.
My residency classmate, Kevin Strauss, is mentioned. He is the second full-time pediatricain at the clinic. Kevin is the smartes physician I've encountered, by a very wide margin and his strength is genetics and metabolism, so I'm sure he is a huge asset to the clinic and the kids.
The Clinic is also a resource for all of us who take care of Amish kids. A year or so ago, we had an Amish boy with severe combined immunodeficiency (SCID) a disease in which the immune system is largely absent. There are many causes, but I contaced Kevin who knew of several cases in the Amish and correctly predicted the defect would be in the enzyme adenosine deaminase (ADA). Interestingly, a different defect (IL-7 receptor) predominates in Mennonites.
The story tries to make the case that Morton is the exemplar of what all physicians will soon be: geneticist-clinicians. Given that Morton works entirely on single gene defects in a population where these are particularly prevalent, this seems quite a stretch. Medicine is good at dealing with single gene disorders. The problem is all the big killer (cancer, heart disease, diabetes, etc) are not caused by a single gene, but by an interaction of multiple genes with the environment. While some progress has been made in identifying these genes, integrating this knowledge into clincal practice has not happened.