m+Medelevator.RU
← Поиск публикаций
Journal of forensic and legal medicine · 2026

Postmortem genetic testing after sudden unexplained death: a proposed medico-legal implementation framework for familial risk.

СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Visci Paolo, Dell'Erba Alessandro, Ferorelli Davide

Аннотация

Postmortem genetic testing is increasingly used in selected sudden unexplained deaths, particularly when inherited arrhythmia syndromes or cardiomyopathies are suspected. Existing recommendations address clinical indications, multidisciplinary investigation, sample storage, family evaluation, communication, and ethical or legal challenges. This Clinical Practice article proposes a locally adaptable medico-legal implementation framework for the interface between postmortem genetic investigation and family clinical care. The framework contains two related pathways: phenotype- or circumstance-based family clinical referral, which may be appropriate even when genetic testing is negative, unavailable, inconclusive, or not performed; and variant-specific disclosure or cascade testing, which requires a sufficiently supported, clinically actionable finding and appropriate counselling. The article does not present original empirical data or a validated guideline. Rather, it consolidates, sequences, and operationalizes existing clinical, genetic, ethical, and forensic recommendations into an institution-level package for local adaptation. It identifies pathway initiation, coordination, sample and data custody, multidisciplinary actionability assessment, mediated notification or referral, referral acknowledgement, transfer closure, reclassification, recontact, difficult family scenarios, and audit indicators. The aim is not to transform forensic practitioners into genetic counsellors or to impose a universal duty of direct disclosure. Instead, it is to prevent potentially important familial risk information from being generated, stored, or ignored without an accountable interface between medico-legal services and clinical care. The proposed framework should be understood as a practical implementation and accountability synthesis requiring local legal review, stakeholder consultation, and future empirical evaluation.