Sequencing and its consequences:Path dependence and the relationships between genetics and medicalization

Both advocacy for and critiques of the Human Genome Project assume a self-sustaining relationship between genetics and. medicalization. However, this assumption ignores the ways in which the meanings of genetic research are conditional on its position in sequences of events. Based, on analyses of three conditions for which at least one putative gene or genetic marker has been identified, this article argues that critical junctures in the institutional stabilization of phenotypes and the mechanisms that sustain such classifications over time configure the practices and meanings of genetic research. Path dependence is critical to understanding the lack of consistent fit between genetics and medlcalization.

The shifting engines of medicalization

Social scientists and other analysts have written about medicalization since at least the 1970s. Most of these studies depict the medical profession, interprofessional or organizational contests, or social movements and interest groups as the prime movers toward medicalization. This article contends that changes in medicine in the past two decades are altering the medicalization process. Using several case examples, I argue that three major changes in medical knowledge and organization have engendered an important shift in the engines that drive medicalization: biotechnology (especially the pharmaceutical industry and genetics), consumers, and managed care. Doctors are still gatekeepers for medical treatment, but their role has become more subordinate in the expansion or contraction of medicalization. Medicalization is now more driven by commercial and market interests than by professional claims-makers. The definitional center of medicalization remains constant, but the availability of new pharmaceutical and potential genetic treatments are increasingly drivers for new medical categories. This requires a shift in the sociological focus examining medicalization for the twenty-first century.

From hyperactive children to ADHD adults:Observations on the expansion of medical categories

Medicalization is by definition, about the extension of medical boundaries. Analogous to "domain expansion," extant medicalized categories can expand to become broader and more inclusive. This paper examines the emergence of Attention Deficit Hyperactivity Disorder (ADHD) in adults. ADHD, commonly known as Hyperactivity, became established in the 1970s as a diagnosis for children; it expanded first to include "adult hyperactives" and, in the 1990s, "ADHD Adults." This allowed for the inclusion of an entire population of people and their problems that were excluded by the original conception of hyperactive children. We show how lay, professional, and media claims help establish the expanded diagnostic category. We identify particular aspects of the social context that contributed to the rise of adult ADHD and outline some of the social implications of ADHD in adults, especially the medicalization of underperformance and the availability of new disability rights. Adult ADHD serves as an exemplar of several cases of diagnostic expansion, an important avenue of increasing medicalization.

A mirage of genes

This paper examines the structure of popular conceptions of the new genetics, and assesses why genetics has been so readily accepted in medicine and in the public discourse. Adapting Rene Dubos' classic analysis, Mirage of Health, we examine the new genetics by comparing it to Dubos' analysis of the structure and limits of germ theory. Germ theory focuses on the internal rather than the external environment, emphasises a doctrine of specific aetiology, and adopts the metaphor of the body as a machine. The germ theory model narrowed our vision about disease aetiology, proved misleading in some cases, yet remained the basis for clinical medical models of disease. In recent years, genetics has moved to the cutting edge of medical research and thinking about disease and behaviour. The structure of popular conceptions of the new genetics shows remarkable parallels with germ theory. This has eased the acceptance of genetics but simultaneously raises questions about these genetic explanations. An appearance and allure of specificity privileges genetic explanations in the public discourse; on examination, this specificity may prove to be a mirage.

Uses of expertise:Sources, quotes, and voice in the reporting of genetics in the news

Science journalists call upon experts for background and for clarification and comment on scientific findings. This paper examines how science writers choose and use experts, and it focuses on several cases of reporting about genetics and behavior. Our research included two sources of data: interviews with 15 science reporters and three print media samples of coverage of genetics and behavior - alcoholism (between 1980-1995), homosexuality (in 1993 and 1995), and mental illness (between 1970-1995). Science reporters seek relevant and specific experts for nearly every story. Good sources are knowledgeable, are connected to prestigious institutions, are direct and articulate and don't overqualify statements, and they return phone calls. The mean number of experts quoted was 2.8 per story, differing for alcoholism (3.5), homosexuality (2.8), and mental illness (2.6). Researchers and scientists predominated among experts quoted. Quotes were used to provide context, give legitimization, as explication, to provide a kind of balance, and to outline implications. For the homosexuality sample, a significantly greater percentage of activists and advocates were quoted (21 percent compared with 5 percent and 1 percent in other samples, X <0.0001). "Lay" quotes for alcoholism and mental illness were minimal. Except for homosexuality, whose advocates are organized, those "affected" do not have a voice in genetics news stories.

Canaries Coalmines Thunderstones 2010:"Suppressing the Medical Model”; “Family at War”; and “The Fallenness of Humanity"

A Poetic Annual

Agreement between self-report and medical records on signs and symptoms of respiratory illness

Background: Information on patient symptoms can be obtained by patient self-report or medical records review. Both methods have limitations. Aims: To assess the agreement between self-report and documentation in the medical records of signs/symptoms of respiratory illness (fever, cough, runny nose, sore throat, headache, sinus problems, muscle aches, fatigue, earache, and chills). Methods: Respondents were 176 research participants in the Hutterite Influenza Prevention Study during the 2008-2009 influenza season with information about the presence or absence of signs/symptoms from both self-report and primary care medical records. Results: Compared with medical records, lower proportions of self-reported fever, sore throat, earache, cough, and sinus problems were found. Total agreements between self-report and medical report of symptoms ranged from 61% (for sore throat) to 88% (for muscle aches and earache), with kappa estimates varying from 0.05 (for chills) to 0.41 (for cough) and 0.51 (for earache). Negative agreement was considerably higher (from 68% for sore throat to 93% for muscle aches and earache) than positive agreement (from 13% for chills to 58% for earache) for each symptom except cough where positive agreement (77%) was higher than negative agreement (64%). Agreements varied by age group. We found better agreement for earache (kappa=0.62) and lower agreements for headache, sinus problems, muscle aches, fatigue, and chills in older children (aged =5 years) and adults. Conclusions: Agreements were variable depending on the specific symptom. Contrary to research in other patient populations which suggests that clinicians report fewer symptoms than patients, we found that the medical record captured more symptoms than selfreport. Symptom agreement and disagreement may be affected by the perspectives of the person experiencing them, the observer, the symptoms themselves, measurement error, the setting in which the symptoms were observed and recorded, and the broader community and cultural context of patients. © 2012 Primary Care Respiratory Society UK. All rights reserved.

Access to medical records for research purposes:Varying perceptions across research ethics boards

Introduction: Variation across research ethics boards (REBs) in conditions placed on access to medical records for research purposes raises concerns around negative impacts on research quality and on human subject protection, including privacy. Aim: To study variation in REB consent requirements for retrospective chart review and who may have access to the medical record for data abstraction. Methods: Thirty 90-min face-to-face interviews were conducted with REB chairs and administrators affiliated with faculties of medicine in Canadian universities, using structured questions around a case study with open-ended responses. Interviews were recorded, transcribed and coded manually. Results: Fourteen sites (47%) required individual patient consent for the study to proceed as proposed. Three (10%) indicated that their response would depend on how potentially identifying variables would be managed. Eleven sites (38%) did not require consent. Two (7%) suggested a notification and opt-out process. Most stated that consent would be required if identifiable information was being abstracted from the record. Among those not requiring consent, there was substantial variation in recognising that the abstracted information could potentially indirectly re-identify individuals. Concern over access to medical records by an outside individual was also associated with requirement for consent. Eighteen sites (60%) required full committee review. Sixteen (53%) allowed an external research assistant to abstract information from the health record. Conclusions: Large variation was found across sites in the requirement for consent for research involving access to medical records. REBs need training in best practices for protecting privacy and confidentiality in health research. A forum for REB chairs to confidentially share concerns and decisions about specific studies could also reduce variation in decisions.