Fragile X and the dilemma of newborn genetic screening

My latest American Prospect article explores the dilemma of newborn fragile X screening.

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.

Author: Harold Pollack

Harold Pollack is Helen Ross Professor of Social Service Administration at the University of Chicago. He has served on three expert committees of the National Academies of Science. His recent research appears in such journals as Addiction, Journal of the American Medical Association, and American Journal of Public Health. He writes regularly on HIV prevention, crime and drug policy, health reform, and disability policy for American Prospect,, and other news outlets. His essay, "Lessons from an Emergency Room Nightmare" was selected for the collection The Best American Medical Writing, 2009. He recently participated, with zero critical acclaim, in the University of Chicago's annual Latke-Hamentaschen debate.

5 thoughts on “Fragile X and the dilemma of newborn genetic screening”

  1. Keith,

    As a broader question (not just fragile X syndrome), don't we need to rationalize the health care finance system before we engage in these sorts of large-scale screening endeavors? The health care insurance companies are already looking for any excuse at all to rescind (or, equivalently to price out of reach) policies for those likely to need expensive care. Genetic marker screening will provide them with additional ammunition to use, absent some form of single-payer, guaranteed-issue health insurance, won't it?

    On the specific issue of fragile X syndrome, it sounds like what the screening allows is an update on the probability of developing various consequences? I'm thinking it's much as finding BRCA-1 or -2 allows us to infer a higher rate of breast and ovarian cancer incidence, but doesn't make their occurrence certain. So the screening would basically warn parents and caregivers about a few things: (1) You want daughters, not sons; (2) You want to think carefully about having any more children at all; (3) Your other children (if any) should be screened so they can make informed decisions; (4) Be on the lookout for the following things in your child; (5) If you see them, here's who we call…

    And of course the hope in this particular Pandoran Box is that none of these undesirable things occur. It's difficult for people to hear the hope in the deluge of bad news. If better screening would allow us to refine the probabilities and learn that the markers aren't the quite as dire as they seem now, it would qualify as a good thing.

  2. Harold,

    It's an amazing thing, to have easy access to expertise like yours. I like your plan for your blogging resources.

  3. My big question is along Dennis's lines: are we going to treat newborn screening as a tool for bringing additional resources to bear, or for triage in a world of scarcity? Once someone's file is tagged with a congenital defect, it will be easy for future clinicians to attribute any possibly-related problem as stemming from that defect, rather from another, more treatable cause.

    (And I'd go even further than your understated "no immediate benefit": in the absence of really good counseling and support organizations, diagnosis at birth of a carrier state or longterm degenerative disease could have disastrous effects on a person's development and identity. Much less employment and educational prospects.)

  4. Harold,

    I don't know what demon was sitting on my shoulder telling me it was Keith who wrote the piece. My apologies and congratulations on a nice essay.

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