Genes and geneticization? The social construction of autosomal dominant polycystic kidney disease
Bibliographic record
Abstract
Critics of the new genetics argue that contemporary understandings of health and illness are becoming increasingly 'geneticized.' Salient implications of this critique are explored here within the context of Autosomal Dominant Polycystic Kidney Disease (PKD), a life-threatening genetic disease that causes fluid-filled cysts in the kidneys and progressive loss of renal function. Although PKD is very common, public awareness of the disease remains low and there is little clinical emphasis on hereditary aspects. Drawing upon qualitative interviews with 16 healthcare providers, 13 patients and 15 family members, this paper examines the social construction and clinical management of PKD. In particular, interviewees' perceptions of the role of genetics in PKD and views on presymptomatic testing are considered. Finding little impetus toward early diagnosis and/or presymptomatic identification of mutation carriers, we conclude that careful empirical study of PKD (or other neglected hereditary conditions) contributes new insights into factors mitigating geneticization.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.006 | 0.010 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.007 | 0.068 |
| Scholarly communication | 0.005 | 0.005 |
| Open science | 0.001 | 0.006 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".