Disclosing genetic information to family members without consent: Five Australian case studies.

Genetic risk information is relevant to individual patients and also their blood relatives. Health practitioners (HPs) routinely advise patients of the importance of sharing genetic information with family members, especially for clinically actionable conditions where prevention is possible. However, some patients refuse to share genetic results with at-risk relatives, and HPs must choose whether to use or disclose genetic information without consent. This requires an understanding of their legal and ethical obligations, which research shows many HPs do not have. A recent UK case held that HPs have a duty to a patient's relatives where there is a proximate relationship, to conduct a balancing exercise of the benefit of disclosure of the genetic risk information to the relative against the interest of the patient in maintaining confidentiality. In Australia, there is currently no legal duty to disclose genetic information to a patient's at-risk relatives, but there are laws and guidelines governing unconsented use/disclosure of genetic information. These laws are inconsistent across different Australian states and health contexts, requiring greater harmonisation. Here we provide an up-to-date and clinically accessible resource summarising the laws applying to HPs across Australia, and outline five Australian case studies which have arisen in clinical genetics services, regarding the disclosure of genetic results to relatives without consent. The issues addressed here are relevant to any Australian HP with access to genetic information, as well as HPs and policy-makers in other jurisdictions considering these issues.

Seguridad del Paciente en Medicina Intensiva. Aspectos bioéticos / Patient Safety in Intensive Care Medicine. Bioethical aspects / Seguretat del Pacient en Medicina Intensiva. Aspectes bioètics

La Seguridad del Paciente se ha convertido en un reto y en una prioridad de todos los sistemas sanitarios. Se ha implantado políticas internacionales con el objetivo de reducir el número de incidentes relacionados con Seguridad del Paciente. Todavía son muchos los pacientes que sufren daños derivados de la atención sanitaria. Además, su impacto se extiende no solo a los familiares y allegados, sino también a los propios profesionales, a las instituciones sanitarias y todo ello con un coste económico y emocional con importantes consecuencias para todos los implicados. La mayoría de estudios realizados han ido dirigidos a conocer la epidemiología de los eventos adversos, a conocer sus causas y sus consecuencias. Se han promovido numerosas prácticas seguras con el objetivo de reducir los riesgos relacionados con la atención sanitaria. Recientemente han cobrado mayor relevancia aspectos relacionados con la actuación posterior a un evento adverso (EA). La gestión del riesgo implica entre otras acciones, la identificación, notificación y el análisis de los EA que señalen los fallos latentes en el sistema y la causa raíz con el objetivo último de establecer acciones de mejora y evitar su recurrencia. De forma paulatina estas estrategias se han ido incorporando en las políticas institucionales y mejorando con ello la cultura de seguridad. Pero todavía existen partes del proceso, que en nuestro ámbito se encuentran en su etapa más inicial, tales como el proceso de información sobre los EA a los pacientes y sus familiares y el soporte a los profesionales tras verse implicados en un EA. Todo ello debe construirse en un marco de confianza y credibilidad

Patient Safety has become a challenge and a priority of all healthcare systems. International policies have been implemented with the aim of reducing the number of incidents related to Patient Safety. There are still many patients who suffer damages derived from health care. In addition, its impact extends not only to family members and relatives, but also to the professionals themselves, to health institutions and all of this at an economic and emotional cost with important consequences for all those involved. Most studies have been directed to know the epidemiology of adverse events (AE), to know their causes and their consequences. Numerous safe practices have been promoted with the aim of reducing the risks related to health care. Recently, aspects related to post-AE performance have become more relevant. Risk management involves, among other actions, the identification, notification and analysis of the AE that point out latent failures in the system and the root cause with the ultimate goal of establishing improvement actions and avoiding their recurrence. Gradually these strategies have been incorporated into institutional policies and thereby improving the safety culture. But there are still parts of the process, which in our area are in their most initial stage, such as the process of informing about AE to patients and their families and the supoort to professionlas after being involved in an AE. All this must be built in a framework of trust and credibility

La seguretat del pacient s'ha convertit en un repte i en una prioritat de tots els sistemes sanitaris. S'han implantat polítiques internacionals amb l'objectiu de reduir el nombre d'incidents relacionats amb la seguretat del pacient. Encara són molts els pacients que sofreixen danys derivats de l'atenció sanitària. A més, el seu impacte s'estén no només als familiars i afins, sinó també als propis professionals, a les institucions sanitàries i tot això amb un cost econòmic i emocional amb importants conseqüències per a tots els implicats. La majoria d'estudis realitzats han anat dirigits a conèixer l'epidemiologia dels esdeveniments adversos, a conèixer les seves causes i les seves conseqüències. S'han promogut nombroses pràctiques segures amb l'objectiu de reduir els riscos relacionats amb l'atenció sanitària. Recentment han cobrat major rellevància els aspectes relacionats amb l'actuació posterior a un EA (esdeveniment advers). La gestió del risc implica entre altres accions, la identificació, notificació i l'anàlisi dels EA que assenyalin les fallades latents en el sistema i la causa arrel de les mateixes amb l'objectiu últim d'establir accions de millora i evitar-ne la recurrència. De forma gradual, aquestes estratègies s'han anat incorporant en les polítiques institucionals millorant amb això la cultura de seguretat. Però encara existeixen parts del procés, que en el nostre àmbit es troben en la seva etapa més inicial, tals com el procés d'informació sobre els EA als pacients i els seus familiars i el suport als professionals després de veure's implicats en un EA. Tot això ha de construir-se en un marc de confiança i credibilitat

Bioética en la práctica clínica del fisioterapeuta / Bioethics in the clinical practice of the physiotherapist / Bioètica en la pràctica clínica del fisioterapeuta

En la bibliografía actual, la dedicación a los dilemas bioéticos es abundante, pero hay algunas profesiones de ciencias de la salud, como fisioterapia, en que estas problemáticas no han sido ampliamente estudiadas, y por lo tanto la resolución y análisis de los problemas éticos también es deficiente ya que no se cuenta con los elementos de análisis propios de la bioética. Esto repercute en la formación y en el desarrollo profesional de los fisioterapeutas. En este artículo se plantean algunas clasificaciones de los dilemas éticos más comunes y se analizan brevemente algunas propuestas educativas. Se concluye que la bioética es importante para el desarrollo integral de la fisioterapia, pero falta más investigación en relación con las problemáticas éticas y con la formación de la ética en la carrera

In current literature, dedication to bioethical dilemmas is abundant, however there are some professions of health sciences, in this case physiotherapy, in which these problems have not been widely studied. Therefore resolution of the ethical problems is also deficient since there are no elements of analysis inherent to bioethics and it also has an effect on training and professional development of physiotherapists. In this study some classifications of the most common ethical dilemmas are raised and some educational proposals are briefly analyzed. It is concluded that bioethics is important for the integral development of physiotherapy, but more research is lacking in relation to the ethical problems and to the formation of the ethics in the career

En la bibliografia actual, l'anàlisi de dilemes bioètics és força abundant, però hi ha algunes professions de ciències de la salut, com ara la fisioteràpia, en què aquesta problemàtica ha estat escassament estudiada i, per tant, la resolució́ I l'anàlisi dels problemes ètics de la professió també́ és deficient, ja que no existeixen elements d'anàlisi propis de la bioètica en el camp de la fisioteràpia. Això repercuteix en la formació́ I en el desenvolupament professional dels fisioterapeutes. En aquest article es plantegen diferents classificacions dels dilemes ètics més comuns I s'hi presenten algunes propostes educatives. Es conclou que la bioètica és important per al desenvolupament integral de la fisioteràpia, però falta més investigació́ en tot el que té a veure amb la formació en ètica al llarg de la carrera

Disclosure to genetic relatives without consent - Australian genetic professionals' awareness of the health privacy law.

BACKGROUND: When a genetic mutation is identified in a family member (proband), internationally, it is usually the proband's or another responsible family member's role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively. The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals (GHPs) is in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband (duty of confidentiality). In New South Wales (NSW), Australia, amendments to Privacy legislation permits such disclosure to living genetic relatives with the process defined under guidelines although there is no legal duty to warn. This study assessed NSW GHP's awareness and experience of the legislation and guidelines. METHODS: An online survey collected demographics; theoretical knowledge; clinical scenarios to assess application knowledge; attitudes; confidence; experience with active non-disclosure. A link to correct answers was provided after completion. Knowledge scores above the median for non-parametric data or above the mean for parametric data were classified as 'good' or 'poor'. Chi square tests assessed associations between confidence and knowledge scores. RESULTS: While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure. No association between confidence and 'good' theoretical or applied clinical knowledge was identified. Uncertainty of their professional responsibility was identified and in the several case examples of active non-disclosure that were reported this uncertainty reflected the need for further understanding of the guidelines in regard to the processes required before disclosure was initiated. CONCLUSIONS: There is a need for further education and training about the guidelines associated with the legislation that would be relevant to support disclosure. The findings may inform future strategies to support introduction of policy changes in other jurisdictions where similar regulatory regimes are introduced.

The duty to warn at-risk relatives-The experience of genetic counselors and medical geneticists.

Studies published over 15 years ago surveyed genetic counselors (GC) and medical geneticists (MG) to examine their clinical experiences with the conflict of "duty to warn" versus patient confidentiality. Federal and state laws pertaining to medical professionals' duty to warn have since been implemented following the publications of these studies. Using a merged version of surveys employed in the prior studies, this study seeks to understand clinicians' current decision-making process when faced with patient refusal to inform at-risk relatives, as well as their familiarity with and opinions of laws and guidelines covering this issue. Consistent with the previous studies, the majority of MG and almost half of GC experience patient refusal. Significantly, fewer MG and GC believe they had a duty to warn their patients' relatives of genetic risk. Only 8% of participants believe current guidelines effectively address the issue of duty to warn. Participant awareness of federal or state laws regulating the disclosure of genetic information remains low. The conflict of duty to warn remains a shared experience among genetics professionals, and resources are needed to facilitate informed decision-making. Participants' opinions of current policies and clinical decisions may guide professional actions regarding duty to warn.

How Should Physicians Respond When They Learn Patients Are Using Unapproved Gene Editing Interventions?

Hundreds of gene therapies are currently in various stages of research and development. A subset of these involve gene editing technologies such as CRISPR. In this hypothetical case, a patient with chronic pain has initiated a CRISPR-based intervention obtained from a clinic in the Cayman Islands. His physician doubts it is approved by the US Food and Drug Administration and worries about its safety. The case presents ethical questions about potential violations of US regulations regarding the sale of products intended to affect human health, patients' lack of understanding about risks of unproven drugs, and suboptimal support for and management of patients with chronic pain. We discuss how physicians should address these questions.

La ética en la comunicación del diagnóstico de síndrome de Down / Ethics in the communication of down syndrome diagnosis

La comunicación del diagnóstico de síndrome de Down tiene serias implicaciones éticas ya que la finalidad del mismo puede ser eugenésica o terapéutica. El objetivo de este artículo es, por un lado, resaltar el papel fundamental que desempeñan los profesionales sanitarios en la comunicación del diagnóstico y la posterior decisión de la madre. Por otra parte, se exponen las recomendaciones sobre la manera de comunicar un diagnóstico. Por último, se analiza el estado de la cuestión en España, para lo que se exponen los resultados de un estudio descriptivo transversal con una muestra de 352 madres en la que expresan, mediante una encuesta, sus experiencias personales sobre como han recibido la noticia. La conclusión a la que se llega es que la comunicación del diagnóstico de síndrome de Down se puede mejorar en muchos aspectos

Down Syndrome diagnosis communication has got serious ethical implications, since the aim thereof can be either eugenic or therapeutic. The purpose of this paper is, on the one hand, to highlight the fundamental role which sanitary professionals play in diagnosis communication and the subsequent decision of the mother. On the other, recommendations on the way to communicate a diagnosis are set out. Finally, in order to analize the state of play in Spain the results of a cross-sectional descriptive study with a sample of 352 mothers are exposed. In this study the mothers express, by means of a survey, their personal experiences of how they have received the news. It is concluded that the communication of Down syndrome diagnosis can be improved in many aspects

Familial genetic risks: how can we better navigate patient confidentiality and appropriate risk disclosure to relatives?

This article investigates a high-profile and ongoing dilemma for healthcare professionals (HCPs), namely whether the existence of a (legal) duty of care to genetic relatives of a patient is a help or a hindrance in deciding what to do in cases where a patient's genetic information may have relevance to the health of the patient's family members. The English case ABC v St George's Healthcare NHS Trust and others considered if a duty of confidentiality owed to the patient and a putative duty of care to the patient's close relatives could coexist in this context. This article examines whether embracing the concept of coexisting duties could enable HCPs to respect duties in line with their clinical judgement, thereby providing legal support and clarity to professionals to allow them to provide the best possible genetics service to both the patient and their family. We argue that these dual duties, framed as a novel, composite duty to consider the interests of genetic relatives, could allow HCPs to exercise and act on their professional judgements about the relative value of information to family members, without fears of liability for negligence or breach of confidence.

Confidentiality in medicine: how far should doctors prioritise the confidentiality of the individual they are treating?

There is a premium placed on the maintenance of our privacy and confidentiality as individuals in society. For a productive and functional doctor-patient relationship, there needs to be a belief that details divulged in confidence to the doctor will be kept confidential and not disclosed to the wider public. However, where the information disclosed to the doctor could have implications for the safety of the wider public, for example disclosures with potential criminal implications, or have serious consequences for another individual, as is the case in genetic medicine, should doctors feel confident about breaching confidentiality? This essay firstly explores the legal rulings regarding cases in which confidentiality has been breached where there was risk of significant harm to others following the patient's disclosure, and secondly, focusing on the evolving legal position with regard to confidentiality in contexts where information sharing would be beneficial to others, for example the evolving case of the implications of genetic diagnosis on families (eg, ABC v St George's Healthcare NHS Trust; 2017).

Positive HIV Test Results from Deceased Organ Donors: Should We Disclose to Next of Kin?

In the context of deceased organ donation, donors are routinely tested for HIV, to check for suitability for organ donation. This article examines whether a donor's HIV status should be disclosed to the donor's next of kin. On the one hand, confidentiality requires that sensitive information not be disclosed, and a duty to respect confidentiality may persist after death. On the other hand, breaching confidentiality may benefit third parties at risk of having been infected by the organ donor, as it may permit them to be tested for HIV and seek treatment in case of positive results. We conclude that the duty to warn third parties surpasses the duty to respect confidentiality. However, in order to minimize risks linked to the breach of confidentiality, information should be restrained to only concerned third parties, that is, those susceptible to having been infected by the donor.

Posthumous HIV Disclosure and Relational Rupture.

In response to Anne L. Dalle Ave and David M. Shaw, we agree with their general argument but emphasize a moral risk of HIV disclosure in deceased donation cases: the risk of relational rupture. Because of the importance that close relationships have to our sense of self and our life plans, this kind of rupture can have long-ranging implications for surviving loved ones. Moreover, the now-deceased individual cannot participate in any relational mending. Our analysis reveals the hefty moral costs that disclosure can bring, which should influence what information is given to would-be donors and how organ procurement coordinators approach these conversations.