Ethical debate: Results of genetic testing: when confidentiality conflicts with a duty to warn relatives Case study Act to resolve conflict View from Dutch general practice Family duty is more important than rights
Bibliographic record
Abstract
# Results of genetic testing: when confidentiality conflicts with a duty to warn relatives {#article-title-2} When a patient is found to have an inherited disease it has implications for the whole family. If screening is available the test is usually offered to all relatives who could be affected, but what if the patient does not want to tell his family about his diagnosis? # Case study {#article-title-3} As his general practitioner, you referred Andrew, a 23 year old man, to the local psychiatrist with gradual onset of paranoid ideation. From the hospital correspondence, you gather the psychiatrist detected dysarthria and abnormal involuntary movements and asked for a neurologist's opinion. The neurologist diagnosed Wilson's disease (hepatolenticular degeneration) and Andrew was started on chelation therapy in a specialist centre. You know Andrew's background reasonably well as you also act as the general practitioner for his 21 year old brother, Martin, and his 20 year old sister, Alison. Their father died many years ago in a road traffic accident and their mother died of breast cancer two years ago. Andrew lived with Martin and Alison until last year, when he moved out to live with his girlfriend, partly due to his increasing mistrust of Martin and Alison. As Wilson's disease is autosomal recessive in inheritance, both Martin and Alison have a 1 in 4 risk of having the disease. The disease is treatable in the presymptomatic stage, and you are anxious to ensure that Martin and Alison receive appropriate counselling and testing. However, you learn from Andrew that Martin and Alison have not received such counselling. Indeed, when the staff at the specialist centre asked Andrew whether he had any siblings, he replied that he had none. Although you carefully explained to Andrew the importance of Martin and Alison receiving early counselling and testing, Andrew is clear that he does not want anyone to inform them about his recent diagnosis. He seems … Correspondence to: J C van der Wouden.
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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 | 0.055 | 0.178 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.014 | 0.021 |
| Scholarly communication | 0.011 | 0.010 |
| Open science | 0.003 | 0.010 |
| Research integrity | 0.037 | 0.034 |
| Insufficient payload (model declined to judge) | 0.012 | 0.004 |
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".