A piercing report for Public Radio International‘s The World, by Marina Giovannelli, gave NPR and BBC World Service listeners this week a wrenching look at the difficult politics, ethics, and clinical application decisions that can emerge from scientific research into disease in remote and poor parts of the world.

The genetic ailment is Huntington’s Disease, just as fatal now as when it took Woody Guthrie’s life more than 40 years ago. But now, wherever modern medicine is available, a DNA test can at least tell people from families that are prone to it whether or not, as they approach middle age, they themselves will likely face its attack on their ability to control their muscles and to think sanely.

Much of the raw material to develop that test came from impoverished farming and fishing communities near Lake Maracaibo in Venezuela. In many families there, the genetic defect is unusually common. The people there remember well the American researchers who gathered blood, semen, and other samples in the early 80s. Many family members are still dying in their prime years, in agony and with little medical attention. Giovannelli visited the area and talked to them. Many, perhaps most, have not heard there is a test now that can say who inherited it and who did not. The report skillfully weaves their predicament with the accusations from some quarters of scientific ingratitude and ethical lapses that kept the fruits of study of their genes from them. It notably includes the reply by the noted American researcher Nancy Wexler. Her own family is prone to Huntington’s.  She led the Venezuelan field testing and has returned to the villages many times. There is no doubt of her compassion for the people there. Her work has made her famous. But she resists the idea of providing costly tests in the villages (she was and is after an effective treatment, which she says she would insist be made available free to the Venezuelans).

This is enterprising reporting on a conundrum, done with sensitivity and clarity and done thoroughly. Wexler’s position does need further exploration. She is rightly celebrated for her work. She does, as the report notes, raise money for a clinic to provide care for those with the disease. She fears the diagnostic test, provided with little other counseling, is a mistake in the primitive villages. She’s not sure it would help. Others say that’s not her judgment to make.

But for the PRI team to have gone straight to the site of the sampling to see how things have changed – well done.

Pic source ;

Grist for the Mill: Nancy Wexler faculty profile, Columbia University.

- Charlie Petit

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