My latest article, in the November issue of the American Prospect, concerns the dilemmas of newborn genetic screening, focusing on fragile X syndrome, the most common heritable form of intellectual disability.
This was a tough piece to write. even more difficult to edit. Fragile X causes an interesting, complicated set of conditions. And these complexities really matter for both clinical interventions and public policy. Whatever you learned in high school or in freshman biology about familiar genetic conditions turns out to be a grossly oversimplified picture of fragile X.
As in the case of sickle cell, supposed “carriers” face characteristic health concerns. People with the same genetic markers display very different impairments and symptoms—including no apparent symptoms at all. Not surprisingly, then, fragile X is frequently overlooked or misdiagnosed. Many families spend thousands of dollars over several years chasing down false leads before proper diagnosis is made. They also have other children during this period of diagnostic uncertainty. For some of the same reasons, a nontrivial proportion of people with fragile X-related conditions are diagnosed through the diagnosis of a younger sibling.
Newborn screening could often prevent this “diagnostic odyssey.” Unfortunately, it raises difficulties and tensions, too. Most people identified through newborn fragile X screening probably derive no immediate benefit from this information—though their parents, siblings, and other relatives might derive important benefits for their own care and their own reproductive planning. Inevitable difficult questions of informed consent and cost-effectiveness arise, too.
Central to this piece is an issue which will recur in many different ways: the large and embarrassing mismatch between our medical care system’s lofty aspirations of high-tech genomic medicine and its everyday capacities to actually use this information to help real people.
Basic issues must be confronted before personalized medicine becomes a useful everyday reality. We continue to pump money into research and advanced treatments for conditions influenced by detectable genetic traits. That’s good. We don’t yet support the everyday patient and provider experiences of genetic screening and care with equal vigor. As a result of this imbalance, advances in genetic science and diagnosis continually raise questions that our medical care system is ill-equipped to answer.
PS: I’ve written many columns over the past several months of the sort “Wall Street Journal writes another misleading editorial about healthcare reform.” I’m not sure this is a great use of my comparative advantage these days. So expect to see more stories like this one, probably less traditional blogging, looking forward.