When it runs in the family: putting susceptibility genes in perspective
Bibliographic record
Abstract
Using the genetics of late onset Alzheimer's disease (LOAD) as illustrative, this paper argues for a reflexive critique of the involved science, specifically in connection with estimations of increased risk. Following a review of social science commentary on genetic testing and screening in general, current scientific understanding about the molecular and population genetics of LOAD is then presented. The results of open-ended interviews conducted with first-degree relatives of individuals diagnosed with LOAD at two study sites follow. It is shown that the majority of people interviewed embrace the idea of complexity in connection with Alzheimer's disease causation and that many draw on a concept of “blended inheritance” with respect to the disease that “runs” in their family. It is argued that knowledge about risk obtained from genetic testing for LOAD rarely usurps other forms of understanding, but is nested by interviewees into previously held ideas about who in the family is most at risk for the disease.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Direct model labels (unvalidated)
Per-model category and study-design labels from the labeling rounds. They are machine output, unvalidated, and the disagreement between models ships as data. No study design here is MEDLINE-validated yet.
| Model arm | Categories | Study design | Confidence |
|---|---|---|---|
| gemma | Science and technology studies Domain: not available · Genre: Empirical About the Canadian research system: no · About a Canadian topic: no | Theoretical or conceptual | low |
| gpt | Science and technology studies Domain: not available · Genre: Commentary About the Canadian research system: no · About a Canadian topic: no | Theoretical or conceptual | low |
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 | 0.036 | 0.051 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.005 | 0.002 |
| Science and technology studies | 0.015 | 0.098 |
| Scholarly communication | 0.015 | 0.032 |
| Open science | 0.004 | 0.011 |
| Research integrity | 0.014 | 0.016 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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, unvalidatedLabeled directly by 2 models reading the full record.
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".