scholarly journals Return of Results in a Global Sample of Psychiatric Genetics Researchers: Practices, Attitudes, and Knowledge

2020 ◽  
Author(s):  
Gabriel Lázaro-Muñoz ◽  
Laura Torgerson ◽  
Stacey Pereira
Keyword(s):  
Genetic Research ◽  
Risk Scores ◽  
Return Of Results ◽  
Psychiatric Genetics ◽  
Genetics Research ◽  
Adequate Knowledge ◽  
Increased Risk ◽  
Wide Range ◽  
Psychosocial Impacts ◽  
Attitudes And Knowledge

AbstractPurposePatient-participants in psychiatric genetics research may be at an increased risk for negative psychosocial impacts related to the return of genetic research results. Examining psychiatric genetics researchers’ return of results practices and perspectives can aid the development of empirically-informed and ethically-sound guidelines.MethodsA survey of 407 psychiatric genetics researchers from 39 countries was conducted to examine current return of results practices, attitudes, and knowledge.ResultsMost respondents (61%) reported that their studies generated medically relevant genomic findings. Although 24% have returned results to individual participants, 52% of those involved in decisions about return of results plan to return or continue to return results. Respondents supported offering medically actionable results related to psychiatric disorders (82%), and the majority agreed non-medically actionable risks for Huntington’s (71%) and Alzheimer’s disease (64%) should be offered. About half (49%) of respondents supported offering reliable polygenic risk scores for psychiatric conditions. Despite plans to return, only 14% of researchers agreed there are adequate guidelines for returning results, and 59% rated their knowledge about how to manage the process for returning results as poor.ConclusionPsychiatric genetics researchers support returning a wide range of results to patient-participants, but they lack adequate knowledge and guidelines.

scholarly journals Return of Results in Psychiatric Genetics Research: Perceptions of Best Practices in a Global Sample of Psychiatric Genetics Researchers

2020 ◽  
Author(s):  
Gabriel Lazaro-Munoz ◽  
Laura N. Torgerson ◽  
Stacey Pereira
Keyword(s):  
Best Practices ◽  
Psychiatric Disorders ◽  
Psychiatric Symptoms ◽  
Genetic Research ◽  
Insurance Companies ◽  
Return Of Results ◽  
Psychiatric Genetics ◽  
Genetics Research ◽  
Patient Participant ◽  
The Impact

Many research sponsors and genetic researchers agree that some medically relevant genetic findings should be offered to participants. The scarcity of research specific to returning genetic results related to psychiatric disorders hinders the ability to develop ethically-justified and empirically-informed guidelines for responsible return of results for these conditions. We surveyed 407 psychiatric genetics researchers from 39 countries to examine their perceptions of challenges to returning individual results and views about best practices for the process of offering and returning results. Most researchers believed that disclosure of results should be delayed if a patient-participant is experiencing significant psychiatric symptoms. Respondents felt that there is little research on the impact of returning results to participants with psychiatric disorders and agreed that return of psychiatric genetics results to patient-participants may lead to discrimination by insurance companies or other third parties. Almost half of researchers believed results should be returned through a participant's treating psychiatrist, but many felt that clinicians lack knowledge about how to manage genetic research results. Most researchers thought results should be disclosed by genetic counselors or medical geneticists and in person, however, almost half also supported disclosure via telemedicine. This is the first global survey to examine the perspectives of researchers with experience working with this patient population and with these conditions. Their perspectives can help inform the development of much-needed guidelines to promote responsible return of results related to psychiatric conditions to patients with psychiatric disorders.

scholarly journals Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject

2015 ◽  
Vol 43 (3) ◽  
pp. 529-537
Author(s):  
Sarah Scollon ◽  
Katie Bergstrom ◽  
Laurence B. McCullough ◽  
Amy L. McGuire ◽  
Stephanie Gutierrez ◽  
...  
Keyword(s):  
Cancer Genetics ◽  
Recurrence Risk ◽  
Genomic Research ◽  
Return Of Results ◽  
Genetics Research ◽  
Personal Significance ◽  
Pediatric Diseases ◽  
Increased Risk ◽  
Preventive Ethics ◽  
Risk Of Cancer

In the pediatric clinical setting, the parent/guardian will almost always be the authorized representative and designated recipient of clinical and research results, making the issue of to whom results should be returned in the pediatric setting less complex than in adult settings. It is also clear that, in genomic research related to pediatric diseases such as cancer, results may be of considerable clinical, ethical, and personal significance for parents in a number of ways, including a genomic explanation of the origin of their child’s cancer, implications for the genetic testing and medical care of other siblings and of the parents themselves, and reproductive planning with regard to the recurrence risk for future children to have an increased risk of cancer. However, what remains unclear is which results should be disclosed, and under what circumstances, to parents of deceased children.

scholarly journals The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

2021 ◽  
Vol 22 (15) ◽  
pp. 8100
Author(s):  
Monica Diez-Fairen ◽  
Pilar Alvarez Jerez ◽  
Joos Berghausen ◽  
Sara Bandres-Ciga
Keyword(s):  
Genetic Research ◽  
Corticobasal Degeneration ◽  
Rapid Onset ◽  
Atypical Parkinsonism ◽  
Future Directions ◽  
Genetics Research ◽  
Wide Range ◽  
Genetic Landscape ◽  
Myoclonus Dystonia ◽  
Hand Dystonia

In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations and genetic risk factors have been unraveled, providing a deeper molecular understanding of the complex genetic architecture underlying these conditions. These disorders are difficult to accurately diagnose and categorize, thus making genetics research challenging. On one hand, dystonia is an umbrella term linked to clinically heterogeneous forms of disease including dopa-responsive dystonia, myoclonus-dystonia, rapid-onset dystonia-parkinsonism and dystonia-parkinsonism, often viewed as a precursor to Parkinson’s disease. On the other hand, atypical parkinsonism disorders, such as progressive supranuclear palsy, multiple system atrophy and corticobasal degeneration, are rare in nature and represent a wide range of diverse and overlapping phenotypic variabilities, with genetic research limited by sample size availability. The current review summarizes the plethora of available genetic information for these diseases, outlining limits and future directions.

scholarly journals Irving I. Gottesman's Collaboration in Psychiatric Genetics Research in Denmark

2018 ◽  
Vol 21 (4) ◽  
pp. 322-323
Author(s):  
Kaare Christensen ◽  
Aksel Bertelsen
Keyword(s):  
Family Studies ◽  
Genetic Research ◽  
Psychiatric Genetics ◽  
Genetics Research ◽  
Psychiatric Genetic

Irving I. Gottesman played an important role for psychiatric genetic research in Denmark through more than 40 years of collaboration with Danish scientists, resulting in important twin and family studies based upon the unique national registers available in Denmark.

scholarly journals COVID-19 and Its Symptoms’ Panoply: A Case-Control Study of 919 Suspected Cases in Locked-Down Ovar, Portugal

2021 ◽  
pp. 1-8
Author(s):  
Regina Sá ◽  
Tiago Pinho-Bandeira ◽  
Guilherme Queiroz ◽  
Joana Matos ◽  
João Duarte Ferreira ◽  
...  
Keyword(s):  
Large Scale ◽  
Case Control Study ◽  
Statistical Significance ◽  
Case Control ◽  
Case Definition ◽  
Suspected Case ◽  
Risk Characteristics ◽  
Increased Risk ◽  
Wide Range ◽  
Control Study

<b><i>Background:</i></b> Ovar was the first Portuguese municipality to declare active community transmission of SARS-CoV-2, with total lockdown decreed on March 17, 2020. This context provided conditions for a large-scale testing strategy, allowing a referral system considering other symptoms besides the ones that were part of the case definition (fever, cough, and dyspnea). This study aims to identify other symptoms associated with COVID-19 since it may clarify the pre-test probability of the occurrence of the disease. <b><i>Methods:</i></b> This case-control study uses primary care registers between March 29 and May 10, 2020 in Ovar municipality. Pre-test clinical and exposure-risk characteristics, reported by physicians, were collected through a form, and linked with their laboratory result. <b><i>Results:</i></b> The study population included a total of 919 patients, of whom 226 (24.6%) were COVID-19 cases and 693 were negative for SARS-CoV-2. Only 27.1% of the patients reporting contact with a confirmed or suspected case tested positive. In the multivariate analysis, statistical significance was obtained for headaches (OR 0.558), odynophagia (OR 0.273), anosmia (OR 2.360), and other symptoms (OR 2.157). The interaction of anosmia and odynophagia appeared as possibly relevant with a borderline statistically significant OR of 3.375. <b><i>Conclusion:</i></b> COVID-19 has a wide range of symptoms. Of the myriad described, the present study highlights anosmia itself and calls for additional studies on the interaction between anosmia and odynophagia. Headaches and odynophagia by themselves are not associated with an increased risk for the disease. These findings may help clinicians in deciding when to test, especially when other diseases with similar symptoms are more prevalent, namely in winter.

scholarly journals Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

ACI Open ◽  
2020 ◽  
Vol 04 (02) ◽  
pp. e132-e135
Author(s):  
Luke V. Rasmussen ◽  
Christin Hoell ◽  
Maureen E. Smith ◽  
Rex Chisholm ◽  
Justin Starren ◽  
...  
Keyword(s):  
Genetic Research ◽  
Lessons Learned ◽  
Return Of Results ◽  
Patient Portal ◽  
Test Results ◽  
Research Results ◽  
Genetic Test Results ◽  
Future Return ◽  
New Research ◽  
Genetic Results

Abstract Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

scholarly journals Impact of Diagnosed and Undiagnosed Respiratory Pseudomonas on VAP and VAE During Long-Term Acute Care

2020 ◽  
Vol 41 (S1) ◽  
pp. s258-s259
Author(s):  
James Harrigan ◽  
Ebbing Lautenbach ◽  
Emily Reesey ◽  
Magda Wernovsky ◽  
Pam Tolomeo ◽  
...  
Keyword(s):  
Bacterial Community ◽  
Acute Care ◽  
Statistical Significance ◽  
Rrna Gene ◽  
Care Hospital ◽  
16S Sequencing ◽  
Increased Risk ◽  
Wide Range ◽  
The Impact

Background: Clinically diagnosed ventilator-associated pneumonia (VAP) is common in the long-term acute-care hospital (LTACH) setting and may contribute to adverse ventilator-associated events (VAEs). Pseudomonas aeruginosa is a common causative organism of VAP. We evaluated the impact of respiratory P. aeruginosa colonization and bacterial community dominance, both diagnosed and undiagnosed, on subsequent P. aeruginosa VAP and VAE events during long-term acute care. Methods: We enrolled 83 patients on LTACH admission for ventilator weaning, performed longitudinal sampling of endotracheal aspirates followed by 16S rRNA gene sequencing (Illumina HiSeq), and bacterial community profiling (QIIME2). Statistical analysis was performed with R and Stan; mixed-effects models were fit to relate the abundance of respiratory Psa on admission to clinically diagnosed VAP and VAE events. Results: Of the 83 patients included, 12 were diagnosed with P. aeruginosa pneumonia during the 14 days prior to LTACH admission (known P. aeruginosa), and 22 additional patients received anti–P. aeruginosa antibiotics within 48 hours of admission (suspected P. aeruginosa); 49 patients had no known or suspected P. aeruginosa (unknown P. aeruginosa). Among the known P. aeruginosa group, all 12 patients had P. aeruginosa detectable by 16S sequencing, with elevated admission P. aeruginosa proportional abundance (median, 0.97; IQR, 0.33–1). Among the suspected P. aeruginosa group, all 22 patients had P. aeruginosa detectable by 16S sequencing, with a wide range of admission P. aeruginosa proportional abundance (median, 0.0088; IQR, 0.00012–0.31). Of the 49 patients in the unknown group, 47 also had detectable respiratory Psa, and many had high P. aeruginosa proportional abundance at admission (median, 0.014; IQR, 0.00025–0.52). Incident P. aeruginosa VAP was observed within 30 days in 4 of the known P. aeruginosa patients (33.3%), 5 of the suspected P. aeruginosa patients (22.7%), and 8 of the unknown P. aeruginosa patients (16.3%). VAE was observed within 30 days in 1 of the known P. aeruginosa patients (8.3%), 2 of the suspected P. aeruginosa patients (9.1%), and 1 of the unknown P. aeruginosa patients (2%). Admission P. aeruginosa abundance was positively associated with VAP and VAE risk in all groups, but the association only achieved statistical significance in the unknown group (type S error <0.002 for 30-day VAP and <0.011 for 30-day VAE). Conclusions: We identified a high prevalence of unrecognized respiratory P. aeruginosa colonization among patients admitted to LTACH for weaning from mechanical ventilation. The admission P. aeruginosa proportional abundance was strongly associated with increased risk of incident P. aeruginosa VAP among these patients.Funding: NoneDisclosures: None

scholarly journals Traumatic Brain Injury and Dementia in Medicare Population: Differences in Risk Between Veterans and Non-Veterans

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 850-851
Author(s):  
Arseniy Yashkin
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Proportional Hazards ◽  
Proportional Hazards Model ◽  
Senile Dementia ◽  
Strong Predictor ◽  
Community Dwelling ◽  
Risk Scores ◽  
Increased Risk ◽  
Co Morbidity

Abstract The aim of this study was to assess differences in the effect of traumatic brain injury (TBI) on the onset of Alzheimer’s disease (AD) and other dementias between veteran and non-veteran respondents of the Health and Retirement Study as well as to measure the sensitivity of these differences to the introduction of controls for groups of demographic, medical co-morbidity and polygenic risk scores reflecting AD hallmarks. Using the Fine-Gray proportional hazards model we found that TBI was a strong predictor of dementia in community dwelling residents age 65+: for AD associated risk was 181% [Hazard Ratio (HR): 2.81; CI:2.05-3.86] sample-wide and 142% [HR: 2.42; CI:1.31-2.46] in veteran males. Effect magnitude decreased with the addition of risk-related control variables but remained associated with significantly increased risk. Large differences in risk were observed between veteran and non-veteran males for AD, vascular dementia, senile dementia, and dementia with Lewy Bodies

scholarly journals Autonomic nervous system dysfunction in schizophrenia: impact on cognitive and metabolic health

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Nicolette Stogios ◽  
Alexander Gdanski ◽  
Philip Gerretsen ◽  
Araba F. Chintoh ◽  
Ariel Graff-Guerrero ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Autonomic Dysfunction ◽  
Symptom Severity ◽  
Sympathetic Activity ◽  
Antipsychotic Treatment ◽  
Autonomic Activity ◽  
Autonomic Nervous System Dysfunction ◽  
High Affinity ◽  
Increased Risk ◽  
Wide Range

AbstractSchizophrenia (SCZ) is a psychiatric disorder characterized by a wide range of positive, negative and cognitive symptoms, along with an increased risk of metabolic syndrome and cardiovascular disease that contribute to a 15–20-year reduced life expectancy. Autonomic dysfunction, in the form of increased sympathetic activity and decreased parasympathetic activity, is postulated to be implicated in SCZ and its treatment. The aim of this narrative review is to view SCZ through an autonomic lens and synthesize the evidence relating autonomic dysfunction to different domains of SCZ. Using various methods of assessing autonomic activity, autonomic dysfunction was found to be associated with multiple aspects of SCZ pathophysiology, including symptom severity, cognitive impairment, and the development of cardiometabolic comorbidities, such as metabolic syndrome and high BMI. The strongest association of low heart rate variability was noted among patients on antipsychotic treatment with high-affinity muscarinic antagonism (i.e., clozapine, olanzapine and quetiapine). The review will also suggest ways in which studying autonomic dysfunction can help reduce morbidity and mortality associated with SCZ and its treatment.

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