My latest long-form article, in the November issue of American Prospect, concerns the dilemmas of newborn genetic screening, focusing on a condition called fragile X syndrome.
Fragile X is the most common heritable form of intellectual disability. Many individuals with fragile X syndrome are also diagnosed with autism and related symptoms. Especially if you've never heard of fragile X. I really hope that you read this piece.
Fragile X is reasonably complicated. And these complications really matter for both clinical interventions and for public policy. Fragile X therefore exemplifies broader dilemmas we will increasingly confront within our health care system.
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. Partly because of this variation, fragile X is often overlooked or misdiagnosed.
Many parents spend years chasing down false leads before proper diagnosis is made. They also have other children before proper diagnosis is made. Many people with fragile X-related conditions are diagnosed through the diagnosis of a younger sibling. Newborn screening might prevent this "diagnostic odyssey," but aggressive screening brings other problems and economic challenges, too.
Fragile X highlights the embarrassing mismatch between our medical care system's aspirations of personalized genomic medicine and that system's limited everyday capacities to actually use such information well.
We continue to pump money into research and advanced treatments for conditions influenced by detectable genetic traits. That's good, but we don't support the everyday patient and provider experiences of genetic screening and care with equal vigor. Because of this imbalance, advances in genetic science continually raise questions that our medical care system is ill-equipped to address. We need to do better.