When it runs in the family: putting susceptibility genes in perspective
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
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.
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 distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.002 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 it