Graduate explores genetic test's effects

by Bruce Mason
Staff writer

It's highly unusual for a large crowd to attend and applaud a PhD defence, but more than 50 people were present when Sue Cox defended her doctoral research.

Many had first-hand experience with the topic of her 500-page thesis, "It's Not a Secret But...: Predictive Testing and Patterns of Communication about Genetic Information in Families at Risk for Huntington's disease."

Cox is one of more than 2,200 UBC students graduating during Fall Congregation Nov. 25 and 26. Degrees will be awarded in eight ceremonies at the Chan Centre for the Performing Arts.

"My interest in what it's like to live with the knowledge that one may develop an unpreventable, degenerative disease in mid-life began nearly 20 years ago when a friend explained that he was at risk for Huntington's disease," recalls Cox who has earned a PhD in Sociology.

"I had no idea that his story would leave such an indelible impression or that I would later struggle to articulate something about the social and familial implications that he came to understand all too well," she adds.

Described as a "genetic time bomb," Huntington's disease typically occurs after age 35 and each child of a parent with the disease has a 50 per cent chance of developing it. In 1993, predictive testing with near 100 per cent certainty became available for the first time.

Focusing on how families communicate about hereditary risk, Cox conducted 102 interviews throughout B.C. with 16 people who were having the test and 33 of their family members.

"The phrase `It's not a secret but' is intended to convey the profound sense of ambivalence that many at risk individuals feel about disclosing their test results to others," Cox says. "Such information is a powerful source and ever-present threat to self-identity, intimacy and social life."

Her research was part of a larger study headed up by UBC medical anthropologist Prof. William McKellin.

"Much of genetics research is undertaken in the lab, working at the molecular level with the hope of developing tests that will eventually lead to clinical interventions," McKellin says. "Sue moved beyond the molecular genetics lab and clinic to understand the subtle and profound ways that genetic testing affects everyday family and social lives."

Cox is currently a post-doctoral fellow with the Centre for Applied Ethics and continues to collaborate with renowned researcher, Medical Genetics Prof. Michael Hayden, director of the Centre for Molecular Medicine and Therapeutics. She is also a very active volunteer in Huntington's societies.

Prof. Brian Elliott, head of the Anthropology and Sociology Dept. says, "In an era in which genetics is trumpeted, this is an enormous, original and sympathetic work which pioneers the study of the consequences, as well as the intellectual and ethical struggles, in dealing with the future when we know our fates."

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