Medicolegal and insurance issues regarding BRCA1 and BRCA2 gene tests in high income countries.

Hereditary breast and ovarian cancer syndrome is an autosomal dominant cancer susceptibility syndrome mainly due to variants in BRCA1 or BRCA2 genes. Patients presenting with BRCA1 or BRCA2 gene mutations have a lifetime risk of developing breast or ovarian cancer (80% and 40%, respectively). Genetic testing to explore the predisposition to develop cancer represents a pivotal factor in such cases, and this review wants to explore the main implications in terms of medicolegal liability and insurance issues. Medicolegal issues related to these diagnostic processes include: (a) failure to recommend the test; (b) failure to properly interpret the test; (c) failure to correctly translate results into clinical practice; (d) lack of informed consent; and (e) failure to refer patients to specialized genetic counseling. Such errors may lead to compensation since the legal burden inherent in the efficacy of prophylactic interventions is a proof that requires the so-called 'preponderance of the evidence'. Concerning insurance issues, the carriers of such alleles without cancer are healthy because the genetic predisposition is not a disease per se but represents a (relevant) health risk. However, disclosure of these conditions can be impelled by insurers. It can lead to so-called 'genetic discrimination' because insurance companies might use genetic information to limit insurance options or increase their costs. Many private and public healthcare funders do not cover risk reducing surgeries, even when recommended as part of a risk reduction management plan for BRCA gene mutation carriers. Here, positions on these matters from different high income countries are discussed, stressing the importance of a common supranational or international regulatory framework to reach a trade-off between the economic interests of insurers and the rights of carriers not to disclose extremely sensitive information.

Distinguishing injury patterns in fatal falls from heights versus pedestrian impacts: an autopsy study for differential diagnosis in ambiguous cases.

This study investigated the injury patterns associated with fatal falls from heights compared to individuals struck by cars, aiming to enhance the differential diagnosis in ambiguous cases, where it is unclear whether the body fell from nearby building or was left on the street following a road traffic incident. A retrospective review of comprehensive forensic reports from the Institute of Legal Medicine of the University of Rome "Tor Vergata" between 2012 and 2023 was conducted. The analysis included 232 cases, gathering data on internal organ injuries, skeletal fractures, external skin injuries, as well as pleural, peritoneal, and pericardial effusions. Bilateral lung injuries were significantly more common in falls from height (33.3%) compared to pedestrians (13.6%, p < 0.001). Liver injuries also occurred more frequently in fall victims (49.6%) than in pedestrians (28.2%, p < 0.001). Skull fractures were more frequent in falls from height (68.2%) versus individuals struck by cars (55.3%, p = 0.044), while unilateral leg fractures were more common in pedestrians (28.2%) compared to fall victims (16.3%, p = 0.029). External injuries, notably to the head and legs, were more frequent in pedestrians. The "Total Injured Skin Area" analysis revealed a significant discriminative power with an optimal cut-off of 84.2 cm², suggesting that injuries exceeding this threshold may be indicative of a pedestrian road fatality.