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
Notice bibliographique
Résumé
# 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.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,005 | 0,007 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,001 |
| Méta-épidémiologie (sens large) | 0,005 | 0,000 |
| Bibliométrie | 0,000 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,001 | 0,000 |
| Intégrité de la recherche | 0,002 | 0,005 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; les deux têtes enseignantes s’accordent sur ce qui est montré ici.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».