In the middle of growing consensus that genomics researchers should offer to return clinically valid, medically relevant, and medically actionable findings identified in the course of research, psychiatric genetics researchers face new challenges. As they uncover the genetic architecture of psychiatric disorders through genome-wide association studies and integrate whole genome and whole exome sequencing to their research, there is a pressing need for examining these researchers' views regarding the return of results (RoR) and the unique challenges for offering RoR from psychiatric genetics research. Based on qualitative interviews with 39 psychiatric genetics researchers from different countries operating at the forefront of their field, we provide an insider's view of researchers' practices regarding RoR and the most contentious issues in psychiatry researchers' decision-making around RoR, including what are the strongest ethical, scientific, and practical arguments for and against offering RoR from this research. Notably, findings suggest that psychiatric genetics researchers (85%) overwhelmingly favor offering RoR of at least some findings, but only 22% of researchers are returning results. Researchers identified a number of scientific and practical concerns about RoR, and about how to return results in a responsible way to patients diagnosed with a severe psychiatric disorder. Furthermore, findings help highlight areas for further discussion and resolution of conflicts in the practice of RoR in psychiatric genetics research. As the pace of discovery in psychiatric genetics continues to surge, resolution of these uncertainties gains greater urgency to avoid ethical pitfalls and to maximize the positive impact of RoR. K E Y W O R D S attitudes, empirical, genetic, psychiatry, qualitative
Objective To derive and validate a new ecological measure of the social determinants of health (SDoH), calculable at the zip code or county level. Data Sources and Study Setting The most recent releases of secondary, publicly available data were collected from national U.S. health agencies as well as state and city public health departments. Study Design The Social Vulnerability Metric (SVM) was constructed from U.S. zip‐code level measures (2018) from survey data using multidimensional Item Response Theory and validated using outcomes including all‐cause mortality (2016), COVID‐19 vaccination (2021), and emergency department visits for asthma (2018). The SVM was also compared with the existing Centers for Disease Control and Prevention's Social Vulnerability Index (SVI) to determine convergent validity and differential predictive validity. Data Collection/Extraction Methods The data were collected directly from published files available to the public online from national U.S. health agencies as well as state and city public health departments. Principal Findings The correlation between SVM scores and national age‐adjusted county all‐cause mortality was r = 0.68. This correlation demonstrated the SVM's robust validity and outperformed the SVI with an almost four‐fold increase in explained variance (46% vs. 12%). The SVM was also highly correlated (r ≥ 0.60) to zip‐code level health outcomes for the state of California and city of Chicago. Conclusions The SVM offers a measurement tool improving upon the performance of existing SDoH composite measures and has broad applicability to public health that may help in directing future policies and interventions. The SVM provides a single measure of SDoH that better quantifies associations with health outcomes.
Purpose: Large-scale array-based and sequencing studies have advanced our understanding of the genetic architecture of psychiatric disorders, but also increased the potential to generate an exponentially larger amount of clinically relevant findings. As genomic testing becomes more widespread in psychiatry research, urgency grows to establish best practices for offering return of results (RoR) to individuals at risk or diagnosed with a psychiatric disorder. Methods:We interviewed an international sample (n = 39) of psychiatric genetics researchers to examine conceptualizations of "best practices" for RoR to individual research participants.Results: While the vast majority of researchers do not offer RoR, most believed medically actionable findings (85%) and clinically valid but non-medically actionable findings (54%) should be offered. Researchers identified three main areas for improvement: interfacing with individual participants; interdisciplinary training, guidance, and integration; and quality planning and resource allocation for returning results.Conclusion: There are significant gaps between researchers' visions for "best" versus "actual" RoR practices. While researchers call for participant-centered practices, including consent practices that consider any special needs of participants with psychiatric disorders, return of individually meaningful results, and effective follow-up and provisions for treatment, the current reality is that consent and RoR practices lack standardized and evidencebased norms. (2020) 22:345-352; https://doi. Genetics in Medicine
Recent studies have identified genomic and nongenomic psychiatric risk biomarkers (PRBs; e.g., genomic variants, blood analytes, gray matter volume). PRBs may soon become a powerful tool for improving psychiatric care and prevention. PRB research and its translation to clinical care, however, may prove to be a double-edged sword. Mental health stigma and discrimination are already widespread, and data caution that biological explanations of psychiatric disorders can exacerbate these stigmatizing attitudes, increasing the desire for social distance and heightening the perceived dangerousness of the patient. As a reaction to the Human Genome Project and historical concerns about eugenics, the international community mobilized to establish legislation to prevent genomic discrimination. But in most countries, these laws are limited to few contexts (e.g., employment, health insurance), and very few countries protect against discrimination based on nongenomic risk biomarkers. Like genomic PRBs, nongenomic PRBs provide information regarding risk for stigmatized psychiatric disorders and have similar-and in some cases greater-predictive value. Numerous large-scale neuroscience and neurogenomics projects are advancing the identification and translation of PRBs. The prospect of PRB-based stigma however, threatens to undermine the potential benefits of this research. Unbridaled by nonexistent or limited PRB anti-discrimination protections, the threat of PRB-based stigma and discrimination may lead many to forego PRB testing, even if shown to have clinical utility. To maximize the clinical and social benefits of PRB-based technologies, educational campaigns should address mental health and PRB stigma, and lawmakers should carefully consider expanding legislation that prohibits PRB-based discrimination.
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