scholarly journals Four Actionable Bottlenecks and Potential Solutions to Translating Psychiatric Genetics Research: An Expert Review

2020 ◽  
pp. 1-13
Author(s):  
Jessica L. Bourdon ◽  
Rachel A. Davies ◽  
Elizabeth C. Long

<b><i>Background:</i></b> Psychiatric genetics has had limited success in translational efforts. A thorough understanding of the present state of translation in this field will be useful in the facilitation and assessment of future translational progress. <b><i>Purpose:</i></b> A narrative literature review was conducted. Combinations of 3 groups of terms were searched in EBSCOhost, Google Scholar, and PubMed. The review occurred in multiple steps, including abstract collection, inclusion/exclusion criteria review, coding, and analysis of included papers. <b><i>Results:</i></b> One hundred and fourteen articles were analyzed for the narrative review. Across those, 4 bottlenecks were noted that, if addressed, may provide insights and help improve and increase translation in the field of psychiatric genetics. These 4 bottlenecks are emphasizing linear translational frameworks, relying on molecular genomic findings, prioritizing certain psychiatric disorders, and publishing more reviews than experiments. <b><i>Conclusions:</i></b> These entwined bottlenecks are examined with one another. Awareness of these bottlenecks can inform stakeholders who work to translate and/or utilize psychiatric genetic information. Potential solutions include utilizing nonlinear translational frameworks as well as a wider array of psychiatric genetic information (e.g., family history and gene-environment interplay) in this area of research, expanding which psychiatric disorders are considered for translation, and when possible, conducting original research. Researchers are urged to consider how their research is translational in the context of the frameworks, genetic information, and psychiatric disorders discussed in this review. At a broader level, these efforts should be supported with translational efforts in funding and policy shifts.

2009 ◽  
Vol 31 (2) ◽  
pp. 154-162 ◽  
Author(s):  
Quirino Cordeiro ◽  
Bruno Rezende Souza ◽  
Humberto Correa ◽  
Camila Guindalini ◽  
Mara Helena Hutz ◽  
...  

OBJECTIVE AND METHOD: A large increase in the number of Brazilian studies on psychiatric genetics has been observed in the 1970's since the first publications conducted by a group of researchers in Brazil. Here we reviewed the literature and evaluated the advantages and difficulties of psychiatric genetic studies in the Brazilian population. CONCLUSION: The Brazilian population is one of the most heterogeneous populations in the world, formed mainly by the admixture between European, African and Native American populations. Although the admixture process is not a particularity of the Brazilian population, much of the history and social development in Brazil underlies the ethnic melting pot we observe nowadays. Such ethnical heterogeneity of the Brazilian population obviously brings some problems when performing genetic studies. However, the Brazilian population offers a number of particular characteristics that are of major interest when genetic studies are carried out, such as the presence of isolated populations. Thus, differences in the genetic profile and in the exposure to environmental risks may result in different interactions and pathways to psychopathology.


2021 ◽  
pp. 1-12
Author(s):  
Maya Sabatello ◽  
Ying Chen ◽  
Carmen Fiorella Herrera ◽  
Erika Brockhoff ◽  
Jehannine Austin ◽  
...  

<b><i>Objective:</i></b> Precision medicine raises hope for translating genetic-based knowledge about psychiatric risks into mental health benefits by motivating health-related, risk-reducing behaviors. Teenagers (ages 14–17) are an important age-group to engage in preventive efforts but, their views about psychiatric genetics are understudied. <b><i>Method:</i></b> An online survey with a nationally representative sample of teenagers (<i>n</i> = 417) was conducted. Participants were randomly assigned to receive 1 of 2 handouts, 1 emphasizing the genetic underpinnings of psychiatric conditions; the other agency-oriented and focusing on gene-environment interactions. Survey questions queried their views about behavioral changes in response to psychiatric genetic risk information and expressed willingness to undertake them. Participants’ decision-making characteristics (i.e., self-efficacy, empowerment, intolerance of uncertainty, and sensation-seeking) were assessed at baseline. <b><i>Results:</i></b> Teenagers strongly valued the information provided and its potential usefulness for their mental health. Information about psychiatric genetics alone impacted views about the causes of mental illness. Contrary to our hypothesis, the type of handout did not impact participants’ expressed willingness to make behavioral changes to reduce their risk of developing a psychiatric condition, but their sense of empowerment played a key role in their responses. <b><i>Conclusion:</i></b> Educating teenagers about gene-environment interactions may help facilitate the translational efforts of precision psychiatry. Research with teenagers across racial/ethnic groups, especially those with family histories, is needed to better understand the factors that impact teenagers’ empowerment in psychiatric genomic settings and to identify measures, including the best enablers of empowerment (e.g., educators, parents), which would allow them to reap the benefits of precision psychiatry.


2018 ◽  
Vol 21 (4) ◽  
pp. 322-323
Author(s):  
Kaare Christensen ◽  
Aksel Bertelsen

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.


2020 ◽  
Author(s):  
Gabriel Lazaro-Munoz ◽  
Laura N. Torgerson ◽  
Stacey Pereira

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.


Author(s):  
Kerith Duncanson ◽  
David Schmidt ◽  
Emma Webster

PurposeWritten feedback on research-related writing is an important educational component of novice researcher development. Limited evidence exists to inform effective written feedback, particularly in relation to research reports by novice researchers. The aim of this narrative literature review was to explore supervisor and novice researcher perspectives on the provision of written feedback, particularly in the context of their evolving supervisory relationship. MethodsA systematic search of peer-reviewed journals in educational and health databases was undertaken for the terms ‘written feedback’ and ‘research report’, from January 2001 to August 2020. Identified literature was critiqued for methodological quality. Findings were coded, grouped and described as themes. Next, the themes and their parts were applied to the development of a two-part written feedback checklist that includes separate but related recommendations for supervisors and novice researchers.FindingsFrom 35 included papers, the four main themes that related to written feedback on research reports by novice researchers were: the emotional impact of receiving or giving written feedback; written feedback in the supervisory power dynamic; communicating written feedback; and the content and structure of written feedback. The changing nature and complexity of factors associated with written feedback from research supervisors reflected the transition from a supervisory relationship to a peer relationship. The checklist developed from the synthesised data is intended to provide guidance for supervisors and students about their respective and shared responsibilities within a supervisory relationship.  ImplicationsIncreased awareness of the characteristics, roles and impact of written feedback will assist supervisors of novice researchers to provide effective written feedback, and for students to effectively utilise written feedback. Progression of written feedback throughout the supervisory period is proposed as a means of transitioning from a teacher-student to a peer researcher relationship. 


2020 ◽  
Vol 40 (7) ◽  
pp. 902-911 ◽  
Author(s):  
Malihe Nourollahpour Shiadeh ◽  
Elena Cassinerio ◽  
Maryam Modarres ◽  
Armin Zareiyan ◽  
Zeinab Hamzehgardeshi ◽  
...  

2021 ◽  
Vol 20 ◽  
pp. 160940692110100
Author(s):  
Johanna Hall ◽  
Mark Gaved ◽  
Julia Sargent

This review aims to collate and organize the current literature base on the use of participatory research methods within Covid-19 and pandemic contexts. Participatory approaches rely on establishing trust and rapport between researchers and participants and advocate actively involving participants in the planning, implementation and evaluation of a research issue. However, by transitioning such approaches to an online and geographically distributed context, the openness and equitability of participatory approaches may be reduced or lost. By providing an overview of current empirical and guidance literature on the use of participatory approaches within the context of Covid-19, this review not only offers a basis for how a variety of methods may be used and adapted to distanced contexts, but also explicates the challenges associated with the use of these methods and the wider methodological implications posed by the Covid-19 pandemic. Furthermore, this review outlines the issues associated with conducting this type of research more generally, providing implications for how distance-based participatory methods may be used in wider contexts where face-to-face interaction may not be appropriate, or fieldwork may be disrupted due to logistical reasons.


Author(s):  
M Mazhar Celikoyar ◽  
Michael F Perez ◽  
M Ilhan Akbas ◽  
Oguzhan Topsakal

Abstract Background Facial features and measurements are utilized to analyze patients’ faces for various reasons, including surgical planning, scientific communications, patient-surgeon communications, and post-surgery evaluations. Objectives There are numerous descriptions regarding these features and measurements scattered throughout the literature and we did not encounter a current compilation of these parameters in the medical literature. Methods A narrative literature review of the published medical literature for facial measurements used for facial analysis in rhinoplasty was done through the electronic databases MEDLINE/PubMed and Google Scholar, along with a citation search. Results A total of 61 facial features were identified. 45 points (25 bilateral, 20 unilateral), five lines (three bilateral, two unilateral), eight planes, and three areas. A total of 122 measurements were identified: 48 distances (6 bilateral, 42 unilateral), 57 angles (13 bilateral, 44 unilateral), and 17 ratios. Supplemental Figures were created to depict all features and measurements using either a frontal, lateral or basal view of the face. Conclusions This paper provides the most comprehensive and current compilation of facial measurements to date. We believe this compilation will guide further developments (methodologies and software tools) for analyzing nasal structures and assessing the objective outcomes of facial surgeries, in particular rhinoplasty. Moreover, it will improve the communication as a reference for facial measurements of facial surface anthropometry, in particular rhinoplasty.


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