Ogden family at center of ethics debate in genetics research

Posted: February 27, 2012 at 3:52 am

Ogden • By the time Camilla Black Grondahl became pregnant with her second child in 2010, she had already watched two older sisters bury sons who were born with a congenital affliction that gave them the appearance of “little old men.” Various health problems made their survival impossible.

The young mother did not know whether she, too, could pass the condition to her unborn son. But a Utah researcher, who had been sequencing her family’s genes, did know.

Gholson Lyon’s research team had detected a mutation in her genome that gave any boy she conceived a 50-50 chance of sharing the heartbreaking fate of his cousins and two uncles.

“My jaw dropped open. Who would have thought that another mother would get pregnant during this research and it would be a boy?” said Lyon, then a professor of psychiatry leading the University of Utah’s genetic research into the disease.

He found himself in an ethical quandary that is bound to become more common in biomedical research. As technology advances and costs come down, gene sequencing is becoming routine — yet no system is in place to alert study volunteers about results that could have crucial bearing on their health.

Lyon is a physician, but he was not comfortable with warning the Grondahl family. He was not Camilla Grondahl’s doctor. And the gene sequencing, like almost all testing done for biomedical research, was not done in a clinically certified manner.

What if the data were wrong and the young woman terminated her pregnancy?

Nor was he comfortable not sharing the results with the family, who had welcomed him into their home.

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Last February, the Grondahls’ son Max was born with the telltale signs of the then-unknown disease: wrinkled skin, hernias and facial deformities. By the time “our valiant hero,” as his parents called Max, died four months later, U. researchers had a name for the disease: Ogden syndrome.

In a commentary published this week in the top-shelf science journal Nature, Lyon describes the ethical dilemma that he and other genetic researchers face when they find genes with medical consequences for those they are studying.

“At the moment, human-genetics researchers operate in a totally unregulated environment, following their own protocols to obtain, store, track and analyze DNA — creating many opportunities for error,” Lyon wrote. “But when the result can mean the difference between life and death, mistakes are not an option.”

He proposes requiring that all sequencing of human genes follow strict federal guidelines known as Clinical Laboratory Improvement Amendments, or CLIA. The move would add physicians to each study, who would order certified testing and ensure volunteers received genetic counseling to explain the results.

“In this way, when participants want to know what we know, we will feel confident that what we tell them is correct,” wrote Lyon, now a research scientist at the Children’s Hospital of Philadelphia. Next month, he is moving to Cold Spring Harbor Laboratory, a leading genetics research institution on Long Island.

But Lyon concedes there are no simple answers, although he believes his proposal could save society money in the long run since the resulting information could prevent disease in some cases and improve treatment outcomes in others. And sequencing DNA in centralized certified-facilities could be less costly, thanks to economies of scale, and avoid unnecessary duplication of sequencing.

But if all laboratories that might make discoveries related to volunteers’ health were required to be CLIA-certified, research costs could be driven up, said Lynn Jorde, the chairman of the U.’s human genetics department and the past president of the American Society of Human Genetics.

“It would cost a great deal of extra money,” Jorde said, “at a time when research funding is rapidly vanishing.”

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Ogden family at center of ethics debate in genetics research

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