Monday, August 20, 2012

Genetics and impersonalized medicine

An op/ed piece in Sunday's New York Times by Peter Hotez, dean of the National School of Tropical Medicine at Baylor College of Medicine, entitled "Tropical Diseases: The New Plague of Poverty" is a sobering reminder that for a lot of people the idea that genetics is going to improve their health would be laughable if genetics weren't taking so much money from things that actually would improve their health.

Genetics under Francis Collins as director of the US National Institutes of Health has fared as well as many of us predicted it would when he was chosen to lead the Institutes.  Genetics gets more NIH funding than any other category except for clinical research, having received more than $7 billion in 2011. Infectious diseases, on the other hand, got half that. Yet they are the diseases with real, strong, classically simple and targetable cause.  And they may affect more people in reality than do genetic diseases, as many diseases assumed to have genetic causes only do so in theory.

Hotez writes that 2.6 million children in the US "are living in households with incomes of less than $2 per person per day, a benchmark more often applied to developing countries.  An additional 20 million Americans live in extreme poverty.  In the Gulf Coast states of Louisiana, Mississippi and Alabama, poverty rates are near 20 percent."  The rate is nearly 30 percent in parts of Texas.  "In these places, the Gini coefficient, a measure of inequality, ranks as high as in some sub-Saharan African countries."

Most of us healthy enough to think about how our genes might contribute to our eventual ill-health at advanced age rarely think about infectious diseases, unless it's the flu, HIV/AIDS or the celebrity disease of the moment, West Nile.  But even in the US neglected tropical diseases continue to take their toll.  As Hotez writes:
Outbreaks of dengue fever, a mosquito-transmitted viral infection that is endemic to Mexico and Central America, have been reported in South Texas. Then there  is cysticercosis, a parasitic infection caused by a larval pork tapeworm that leads to seizures and epilepsytoxocariasis, another parasitic infection that causes asthma and neurological problems; cutaneous leishmaniasis, a disfiguring skin infection transmitted by sand flies; and murine typhus, a bacterial infection transmitted by fleas and often linked to rodent infestations. 
Among the more frightening is Chagas disease. Transmitted by a “kissing bug” that resembles a cockroach but with the ability to feed on human blood, it is a leading cause of heart failure and sudden death throughout Latin America. It is an especially virulent scourge among pregnant women, who can pass the disease on to their babies. Just last month, the first case of congenital Chagas disease in the United States was reported. 
These are, most likely, the most important diseases you’ve never heard of.
Hotez says that one of the most important reasons that these diseases are still afflicting people in the US is that these are the people who can't afford medical care, so their disease goes unrecognized and unreported.  He proposes a series of steps that might help eliminate these diseases, however.  First, surveillance programs are required to enable a more accurate estimate of incidence and prevalence.  Then, better diagnostic tests, and safer and better drugs, and new vaccines, although there's little incentive for pharmaceutical companies to invest in these.  What we need fundamentally, Hotez says, is to turn our attention once again to fighting poverty in America.

A story in the NYT Sunday Magazine does just that, pointing out that President Obama learned from his community organizing days in Chicago that eliminating poverty was going to take political power.  This is what impelled him to law school, and then into politics.  He drew attention to poverty frequently during his first campaign for president, detailing his plans for cutting it at least in half during his presidency "because we can't afford not to."  The piece argues that, despite the economic downturn that Obama inherited, he has done more than any president since Lyndon Johnson to at least prevent poverty from getting worse.

But there is no discussion of poverty by either candidate this time around.  Why that is can be debated, and that isn't our point.  Our point is something we've said many times, and that is that billions of dollars is being poured into the assumption that chronic diseases have an identifiable genetic cause, and are preventable, but the payoff for this investment has, at best, reached a plateau.  The money could be more fruitfully spent, in terms of healthy person years gained, on vaccines, treatments for infectious diseases, health, nutrition and sports education in elementary schools, and so on, rather than on the rather elitist idea that genetics research is going to bring us all personalized medicine and longer, healthier lives.

When so many people don't even have access to impersonalized medicine, and so many conditions that we currently do know how to prevent and treat aren't being addressed, it's arguable that the $7+ billion going to genetics is another very real indicator of the economic inequality that affects quality of life for so many in the US.  It's middle class welfare, largely for the science and university social class itself, relatively remotely related to public health.

There are, of course, many truly genetic diseases whose direct causation is in a way comparably tractable to infectious diseases and we have often argued that these diseases should receive much more funding.  If the politics were different, we wouldn't be investing in the genetics of chronic lifestyle diseases at the expense of many healthy person-years for a lot of people for whom the possibility that some disease they might get someday could have a genetic component.  This is, to many, so remote as to be irrelevant given the health issues they face today.  In most cases this is so even if all the estimated genetic component of risk were targeted by means based on genetic risk.  When it's clear to so many of us, even among those benefiting from the investment in genetics, that a lot of the research is pie-in-the-sky anyway, with little foreseeable likelihood of payoff, it does make you realize that economic inequality isn't just something to blame on George W. Bush.


Zachary Cofran said...

I *love* the commentary in this post. "Neglected tropical diseases" (e.g. PLoS) may be more aptly titled "Neglected people."

Anne Buchanan said...

Thank you, Zachary. And absolutely.

Even assuming that genetics will someday have a central role in medicine, and that's a huge assumption based on little evidence to date, the idea that it will ever "trickle down" to people who now can't even get antibiotics is a head shaker. And perpetuated in large part because it keeps the NIH funding for genetics streaming in.

AndyB said...

This reminds me of Richard Lewontin's point that what defeated TB was not the identification of the bacteria responsible, but rendering the bacteria irrelevant (in societal terms, at least) by improving urban housing and sanitation.

Anne Buchanan said...

Yes, and the same was true for malaria in the US and other countries with the resources to clean up standing water, canals, the use of window screens and so forth. Widespread insecticide spraying helped too, but wouldn't have been enough to eliminate the disease.

Unknown said...

This is also the point that Thomas McKeown ("the McKeown thesis") famously made.

Great post!

Ken Weiss said...

This post is in the short memory department--mine!--as your comment points out. I was doing demographic work and well aware of McKeown's work at the time. But I had completely forgotten it.

It's a problem--having to reinvent things one should have remembered. Of course, the health profession as a which is driven by a narrow technological focus, systematic short memory, and the fads and fashions of the research and funding systems.