28 January 2013
ByAppeared in BioNews 690
Risky Genes: Genetics, Breast Cancer and Jewish Identity
Published by Routledge
ISBN-10: 0415502284, ISBN-13: 978-0415502283
Buy this book from Amazon UK
Forty years ago I began to realise that the most interesting work in medicine lay at the interface of different specialties. Researchers who straddle such boundaries gain important insights but the experience can be daunting. For example, physicians with both a PhD and a higher medical qualification could be dismissed by their clinical colleagues as scientists; unable to examine patients, diagnose or suggest therapy. Similarly they may be pigeon-holed as clinicians by scientists, with a consequent incapacity for objective analysis. These difficulties still remain but I have no hesitation in recommending that young researchers take up the challenge.
Jessica Mozersky has written a valuable monograph that crosses the immense boundary between history, social science and culture on the one hand and molecular methods, genetic mutation testing and predictive testing on the other. Whilst the original data comes from Jessica's PhD, this book is not just a repackaging of her thesis. On the contrary, it details vast amounts of information about the history of Ashkenazi Jews, their culture over centuries and the medical, societal and racial discrimination they have endured.
I learnt much that I would have found useful in my clinical and family contacts during the last four decades. There is too much to cover in a review but I hope many will seek out this book, the latest in the series on Genetics and Society, commissioned by the Economic and Social Research Council (ESRC) in the UK.
Mozersky acknowledges that her approach is focused on giving 'life to the voices of members of the [Ashkenazi Jewish] population and does not address how those outside that group might interpret the same knowledge'. This has disadvantages that I shall mention later. At heart though, this is the story obtained from in-depth, unstructured interviews with 14 Ashkenazi women who were attending either a cancer genetic or a family history clinic in London. They were considered to be at high risk of breast cancer but the criteria are not stated.
Similar interviews were also held with individuals not at high risk, mostly recruited via the London Jewish Cultural Centre in the north of the city. Transcripts of all the interviews were then used to develop a coding system that was used in a self-completed postal survey, distributed to Jewish organisations in London. From 200 questionnaires there were 111 responses, a reasonable response for such a study.
Mozersky begins by explaining key definitions, such as founder effects and population genetics, as well as summarising the very successful genetic screening programme, known as Dor Yeshorim, which addressed the previous high incidence of the fatal, debilitating, autosomal recessive condition, Tay-Sachs disease. This discussion is valuable for understanding the positive attitude of Jewish communities to measures aimed at improving health.
Delving into the Tay-Sachs experience and the rapidly evolving BRCA 1 and 2 gene studies of the 1990s, Mozersky describes how these were linked with the collective Jewish identity and a history of suffering. She concludes with the caveat that the characteristic Jewish enthusiasm for positive health strategies, might have led to over-representation of Ashkenazi individuals in disease groups such as breast cancer and consequent biases in the selection of individuals for inclusion in these studies.
Reaching the halfway point of this monograph, questions were explored around whether Jewish individuals had concerns about research specifically directed at their own community and the consequent labelling, such as the historic associations made between Ashkenazi Jews and ill health. I well remember being harangued, twenty years ago, by a strong-willed, opinionated social scientist who would not support any type of population screening on the grounds of possible unforeseen consequences (unstated but in the direction of stigmatisation).
How refreshing it is to find that Mozersky has independently sought out what the people actually think. Here she shows that her empirical data contradict social science criticisms of genetic research on the grounds of 'unintended consequences' or the 'lessons of history'. What the data also shows up is important; Ashkenazi Jewish people have a mistaken belief that they are more prone to disease than other population groups.
The chapter 'On being Jewish', sets out the facts about how a racial definition can be both social and biological. With frequent quotations from the interviewees this has a poignancy not often seen in qualitative research. This is followed by an exploration of how a positive family history or the experience of being affected by breast cancer can impinge on the memory of important details, such as the presence of disease in relatives.
Lastly the implications for future generations are addressed, specifically how responsible people can play their part in ensuring the survival of their communities. Here, the example of avoiding cousin or even endogamous marriages as a strategy is raised, again mentioning the example of Tay-Sachs disease (see BioNews 658). Mozersky does however make clear that approaches to the reduction of autosomal recessive disorders barely apply to genetic disorders that are dominant in inheritance.
Mozersky's approach throughout is valuable and most educational. She starts by telling us what she intends to do, then what she has done with the results and apt discussion, and finally she summarises and draws wise conclusions. She obviously has covered in much depth the social science, historical and molecular genetic literature.
However, I must note the lack of a foray across the most obvious interdisciplinary boundary of this topic, to record the views (different or similar to the Ashkenazi subjects) from other people and communities at risk of breast cancer.
Mozersky has worked in a molecular laboratory with many colleagues with genetics expertise and has interviewed study participants not many metres from clinical geneticists and genetic counsellors with direct experience of how other patient groups respond to the same breast cancer risks. If she had spoken with these professionals, my guess is that other groups of high risk people would have views much more similar to her own study group than different. If that were the case, the data would support even stronger arguments against the narrow use of genetic knowledge to characterise the Ashkenazim, the most extraordinarily well-documented and very talented ethnic communities.
Buy Risky Genes: Genetics, Breast Cancer and Jewish Identity from Amazon UK.