Search

The uptake of predictive DNA testing in families with a hereditary disease is <50%. Current practice often relies on the proband to inform relatives about the possibility of predictive DNA testing, but not all relatives are informed adequately. To enable informed decision‐making concerning predictive DNA testing, the approach used to inform at‐risk relatives needs to be optimized. This study investigated the preferences of patients, relatives, and the general population from the Netherlands on how to inform relatives at risk of autosomal dominant diseases. Online surveys were sent to people with autosomal dominant neuro‐, onco‐, or cardiogenetic diseases and their relatives via patient organizations (n = 379), and to members of the general population via a commercial panel (n = 1,000). Attitudes of the patient and population samples generally corresponded. A majority believed that initially only first‐degree relatives should be informed, following the principles of a cascade screening approach. Most participants also thought that probands and healthcare professionals (HCPs) should be involved in informing relatives, and a large proportion believed that HCPs should contact relatives directly in cases where patients are unwilling to inform, both for untreatable and treatable conditions. Participants from the patient sample were of the opinion that HCPs should actively offer support. Our findings show that both patients and HCPs should be involved in informing at‐risk relatives of autosomal dominant diseases and suggest that relatives' 'right to know' was considered a dominant issue by the majority of participants. Further research is needed on how to increase proactive support in informing of at‐risk relatives. [ABSTRACT FROM AUTHOR]

Abstract: Background: In 2008 the American Public Health Association endorsed lethal ingestion as a public health policy as part of “Patients'' Rights to Self-Determination at the End of Life.” Although rhetoric framing physician-assisted suicide (PAS) invokes individual autonomy, public health''s focus is populations. Even regarding treatment refusal, its logic and coercive power (e.g., quarantine) subordinate autonomy to population interests. Research indicates health practitioners and disciplines that are closer to persons with terminal conditions oppose more PAS than those having little contact: specifically, public health associations are more willing to authorize life-ending means than disciplines directly caring for the dying. Why is that the case and with what consequences for populations and public health? Methods: Contextual analysis of semantics; policy submissions; standards; statutory and regulatory documents; related economic, equity, and demographic discourses is employed; and, finally, scenarios offered of the future. Results: Notwithstanding rhetoric invoking autonomy, public health''s population orientation is reflected in population health measures (e.g., aggregated DALYs, QALYs) that intimate why public health might endorse availing life-ending means. Current associated statutes, regulations, terminology, and data practices compromise public health and semantic integrity (e.g., the falsification of death certificates) and inadequately address population vulnerabilities. In recent policy processes, evidence of patient and system vulnerabilities has not been given due weight while future-oriented scenarios suggest autonomy-based rationales will increasingly yield to population-driven rationales, increasing risk of private and public forms of domination and vulnerabilities at life''s end. Conclusion: Public health should address institutionalized violations of data integrity and patient vulnerabilities, while rescinding policy supporting the institutionalization of lethal means. [Copyright &y& Elsevier]