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Genetic Testing in the Clinic for the APOE gene: A Cautionary Tale

A special talk on genetic testing for Alzheimer's Disease by Dr Margaret Lock, 25th November 2009, 13:00-14:00. Hosted by the Institute of Public Health, at the University Forvie Site, Addenbrooke's site. All welcome, registration is not required.

Abstract: It is commonly assumed that costs of individual genotyping will steadily decrease over the next few years, leading certain researchers and policy makers to argue that genetic testing for certain complex diseases should be routinized to improve clinical care. In this presentation I will first indicate some of the difficulties involved in conveying the complex, unfolding knowledge about Alzheimer's Disease (AD) genetics to patients, their families, and the public at large. Findings will then be presented from interviews with individuals, themselves unaffected by AD, but whose families have one or more member diagnosed with AD, and who participated in the Risk Evaluation and Education for AD study, an RCT carried out at four sites in the US in which subjects were genotyped and informed about their APOE status. One year later, less than one quarter of the interviewees recall their genotype or risk estimates correctly and family history is regarded by virtually all as a better indicator of future disease than is genetic testing. The questionable worth of individualized risk estimates will also be discussed.

Biography: Margaret Lock is the Marjorie Bronfman Professor Emerita in Social Studies in Medicine, and is affiliated with the Department of Social Studies of Medicine and the Department of Anthropology at McGill University. She is a Fellow of the Royal Society of Canada and an Officier de L’Ordre national du Québec. Lock was awarded the Prix Du Québec, domaine Sciences Humaines in 1997 and in the same year the Wellcome Medal of the Royal Anthropological Society of Great Britain. In 2002 she was awarded the Canada Council for the Arts Molson Prize and in 2005 the Canada Council for the Arts Killam Prize. In 2005 she was also awarded a Trudeau Foundation Fellowship and was named a Grande Montréalaise, Secteur Social.

Trained as a cultural anthropologist with a particular interest in an anthropology of the body in health and illness, much of my research is comparative and is carried out primarily in Japan and North America. My current interest lies with the relationship among emerging bioscientific knowledge, associated technologies, the social, political, and moral order, and subjectivity. In the past I have carried out research into the 20th century revival of the indigenous Japanese medical system that continues to proliferate to the present day. I have also researched the cultural management and political meanings associated with life cycle transitions, including adolescence, female mid life, and old age. The book Encounters with Aging: Mythologies of Menopause in Japan and North America, published in 1993 by the University of California Press, won six prizes including the Staley Prize of the School of American Research, the Canada-Japan Book Prize, and the Wellcome Medal of the Royal Anthropological Institute of Great Britain. Research that I have recently completed deals with changing conceptions of life and death in Japan and North America precipitated by the technologically created hybrid conditions that result from biomedical practice. In 2002 Twice Dead: Organ Transplants and the Reinvention of Death was published by the University of California Press, and has also won several awards. This book is about disputes over recognition of the diagnosis of brain death as the end of human life in order that organs for transplant can be legally procured. The book is comparative, and documents political, medical, and moral responses over the past thirty years to this new death and to the organ transplant enterprise in Japan and North America. I am currently investigating how molecular and population genetics and genomics are being newly conceptualized and researched, with emphasis on the emerging discipline of epigenetics. Central to the project is documentation of the implications of this new found knowledge for professional and popular understanding of normal and abnormal conditions; the concept of risk and its application in everyday life; transcendence of nature/nurture debates, and for the potential "enhancement" of individuals and society. My focus is on dementia, Alzheimer's Disease, mild cognitive impairment, and psychiatric disorder, and emphasis is given to the transfer of knowledge across domains of activity including the basic sciences, clinical practice, advocacy groups, the media, patients, families, and the public.

Posted on 26/10/2009

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