Article
Public, Environmental & Occupational Health
Orla T. Muldoon, Sarah Jay, Aisling T. O'Donnell, Michael Winterburn, Andrew B. Moynihan, Brenda H. O'Connell, Ramesh Choudhary, Kiran Jha, Arbind K. Sah
Summary: This study explores the group-based approach to stigma reduction among people affected by leprosy in rural Nepal. The findings suggest that a sense of belonging and health literacy can reduce stigma-related harm among leprosy patients.
HEALTH & SOCIAL CARE IN THE COMMUNITY
(2022)
Article
Psychiatry
Stefania Mannarini, Federica Taccini, Ida Sato, Alessandro Alberto Rossi
Summary: Schizophrenia is one of the most stigmatized psychiatric disorders, and this study contributes to our understanding of stigma towards mental health by investigating the relationships among various aspects of stigma.
PSYCHIATRY RESEARCH
(2022)
Article
Oncology
Huma Q. Rana, Lindsay Kipnis, Kristin Hehir, Angel Cronin, Tim Jaung, Samantha M. Stokes, Fatemeh Fekrmandi, Donna Vatnick, Ursula A. Matulonis, Judy E. Garber, Alexi A. Wright
Summary: The study found that embedding a genetic counselor in a medical and gynecologic oncology clinic significantly increased genetic testing rates and improved timeliness for ovarian cancer patients, leading to higher adherence to guideline recommendations.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Nadine Parker, Weiqiu Cheng, Guy F. L. Hindley, Pravesh Parekh, Alexey A. Shadrin, Ivan I. Maximov, Olav B. Smeland, Srdjan Djurovic, Anders M. Dale, Lars T. Westlye, Oleksandr Frei, Ole A. Andreassen
Summary: Studying the genetic relationship between psychiatric disorders and brain white matter can provide insights into the biological basis of these disorders. This study found that bipolar disorder, major depression, and schizophrenia have a more complex genetic architecture compared to average white matter fractional anisotropy (FA), with some genetic correlations and shared genetic loci. These shared genetic variants are associated with genes related to neurodevelopment, neural cell types, myelin, and cell adhesion molecules.
MOLECULAR PSYCHIATRY
(2023)
Article
Nutrition & Dietetics
Giovana Santarosa Cassiano, Joana Pereira Carvalho-Ferreira, Nicola J. Buckland, Mariana Dimitrov Ulian, Diogo Thimoteo da Cunha
Summary: The aim of this study was to understand how dietitians' body size influences perceived competence and warmth. The results showed that laypeople rated dietitians lower in competence and warmth compared to dietitians and nutrition students. Dietitians with obesity were perceived as warm but less competent. Overall, there was weight stigma among dietitians and students, although less intense than laypeople.
FRONTIERS IN NUTRITION
(2022)
Article
Nursing
Xiuxiu Shi, Zheng Li
Summary: This study aimed to modify the Stigma Resistance Scale (SRS) and assess its psychometric properties in Chinese patients with mental illness. The results showed that the modified Chinese version of the SRS demonstrated excellent reliability and validity, making it suitable for assessing stigma resistance in Chinese individuals with mental illness.
RESEARCH IN NURSING & HEALTH
(2022)
Article
Psychiatry
Carla Kotze, Gopolang Zwide
Summary: Advancements in psychiatric genetics have highlighted the importance of genetic counseling in clinical practice, particularly for patients with schizophrenia. Genetic counseling plays a crucial role in helping individuals and their families make informed decisions regarding genetic testing and mitigating unrealistic expectations and stigma.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Psychiatry
Emily Morris, Rolan Batallones, Jane Ryan, Caitlin Slomp, Prescilla Carrion, Arianne Albert, Jehannine Austin
Summary: Psychiatric genetic counseling (PGC) has been shown to reduce psychiatric symptoms in individuals with serious mental illness (SMI), but the effects may not be solely explained by improved medication adherence. Further research and studies are needed to examine the specific mechanisms behind the reduction of symptoms in SMI patients through PGC.
PSYCHIATRY RESEARCH
(2021)
Article
Clinical Neurology
Shahram Bahrami, Guy Hindley, Bendik Slagsvold Winsvold, Kevin S. O'Connell, Oleksandr Frei, Alexey Shadrin, Weiqiu Cheng, Francesco Bettella, Linn Rodevand, Ketil J. Odegaard, Chun C. Fan, Matti J. Pirinen, Heidi M. Hautakangas, Anders M. Dale, Srdjan Djurovic, Olav B. Smeland, Ole A. Andreassen
Summary: Migraine shows a certain level of shared genetic basis with bipolar disorder, depression, and schizophrenia, with some shared genetic loci. It is less polygenic compared to mental disorders and shares variants with intelligence and educational attainment. Specific loci were identified that are jointly associated with migraine and depression, as well as with migraine and schizophrenia, implicating shared molecular mechanisms and highlighting candidate migraine genes for further research.
Review
Psychiatry
Ella Pearson, Dan Siskind, Ruth E. Hubbard, Emily H. Gordon, Elizabeth J. Coulson, Nicola Warren
Summary: Emerging evidence suggests that individuals with severe mental illness (SMI) are at an increased risk of frailty. This systematic review examined the prevalence and correlates of frailty, as well as the efficacy of interventions, in this population. The findings indicate a high prevalence of frailty among individuals with SMI, with associations to physical comorbidity, cognitive deficits, falls, and mortality. However, further research is needed to develop appropriate interventions for frailty in this population.
JOURNAL OF PSYCHIATRIC RESEARCH
(2022)
Article
Psychiatry
Charlotte Lee, Felicity Waite, Carmen Piernas, Paul Aveyard
Summary: This study aimed to develop an intervention to improve uptake and engagement with a mainstream weight management program for people with serious mental illness (SMI). The intervention included attending a 12-week mainstream weight management program and receiving online adjunct support and regular check-ins. Preliminary results showed that the intervention was feasible and acceptable, warranting further trials.
Review
Psychiatry
Amy J. Morgan, Judith Wright, Nicola J. Reavley
Summary: This study identified strengths and weaknesses in the current Australian practices for reducing stigma towards people with complex mental illnesses. While most programs involve significant input from individuals with lived experience and focus on education and contact as effective strategies, best-practice programs are not widely implemented and there is a lack of programs targeting specific groups such as individuals with mental illnesses and their families, culturally diverse communities, Aboriginal communities, and LGBTIQ individuals.
INTERNATIONAL JOURNAL OF MENTAL HEALTH SYSTEMS
(2021)
Article
Genetics & Heredity
Yayoi Aizawa, Atsushi Watanabe, Kazuto Kato
Summary: Genetic counseling has become increasingly important in the field of genomic medicine globally, with Japan facing issues such as limited public insurance coverage, shortages of personnel, lack of national qualification, and limited research. Collaboration and sharing information is crucial to address these challenges and establish the position and role of genetic counselors in the healthcare system.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Dong Dong, Shiyi Xiong, Elena Nichini, Xiaoqiong Chen, Binjuan Liu, Liling Zhu, Faustina Fu Yip, Luming Sun, Jianfeng Zhu
Summary: Due to changing medical demands, there is a need for a standardized and professionalized curriculum for genetic counselors in China. This study evaluates the first Peer Experiential and Reciprocal Supervision (PEERS) training program, providing feedback and recommendations for future training and practices. Results show inadequate knowledge and skills, lack of empathy and cultural sensitivity, difficulties in counseling approach, and the overall helpfulness of the training. The professionalization of genetic counseling in China is crucial in addressing the challenges arising from genetic counseling practice.
FRONTIERS IN MEDICINE
(2023)
Article
Psychology, Biological
Shahram Bahrami, Alexey Shadrin, Oleksandr Frei, Kevin S. O'Connell, Francesco Bettella, Florian Krull, Chun C. Fan, Jan Rossberg, Guy Hindley, Torill Ueland, Anders M. Dale, Srdjan Djurovic, Nils Eiel Steen, Olav B. Smeland, Ole A. Andreassen
Summary: The study found that despite the lack of significant genetic correlation between major depression and general intelligence, there is a large shared genomic structure, with 92 shared genetic loci identified between the two phenotypes, indicating a certain genetic connection between them.
NATURE HUMAN BEHAVIOUR
(2021)
Article
Genetics & Heredity
Areesha Salman, Emily Morris, Angela Inglis, Jehannine Austin
Summary: Both empirical data and genetic counselors' clinical experience suggest that patients differ in the extent to which they benefit from genetic counseling. This study aimed to explore the relationships between patient personality dimensions, coping styles, and outcomes of genetic counseling. The preliminary findings suggest that genetic counseling can increase patients' empowerment regardless of their personality dimensions and coping styles.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Psychiatry
Caitlin Slomp, Emily Morris, Louisa Edwards, Alison M. Hoens, Ginny Landry, Linda Riches, Lisa Ridgway, Stirling Bryan, Jehannine Austin
Summary: This study aimed to understand the perceptions of people with lived experience (PWLE) and healthcare providers/policy experts (P/HCPs) regarding pharmacogenomic (PGx) testing for depression. The results showed that participants' prior professional and/or personal experiences influenced their perceptions of PGx testing. Both groups emphasized the need for robust evidence and various considerations for the implementation of PGx testing in British Columbia (BC).
CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE
(2023)
Article
Genetics & Heredity
Peter Grant, Courtney B. Cook, Sylvie Langlois, Jennifer Nuk, SzeWing Mung, Qian Zhang, Larry D. GenCOUNSEL Study, Larry Lynd, Jehannine M. Austin, Alison Elliott
Summary: When genetic tests are not funded publicly, patients may consider paying out-of-pocket. The evaluation of two publicly funded clinical programs in British Columbia showed a significant increase in the number of tests completed and out-of-pocket pay. Patients with higher incomes were more likely to pay out-of-pocket. Funding decisions have a significant impact on out-of-pocket pay rates.
Editorial Material
Biochemistry & Molecular Biology
Jessica Mundy, Helena L. Davies, Madalina Radu, Jehannine Austin, Evangelos Vassos, Thalia C. Eley, Gerome Breen, Ramona Moldovan
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Loryn Byres, Emily Morris, Jehannine Austin
Summary: This study aimed to investigate the perspectives of Autistic adults regarding genetic testing for autism. A web-based survey was distributed to English-speaking Autistic adults via social media. The results indicated that Autistic adults have concerns about genetic testing for autism. Additional work is required to bridge the divide between the Autistic community and health care providers and families to identify if and when genetic testing should be offered.
GENETICS IN MEDICINE
(2023)
Article
Public, Environmental & Occupational Health
C. Slomp, E. Morris, C. Hippman, A. Inglis, P. Carrion, R. Batallones, H. Andrighetti, A. Albert, J. Austin
Summary: This study aimed to explore the relationships between sex of infant, disappointment with sex of infant, and risk for perinatal depression. Data from a Canadian prospective longitudinal study were analyzed, and the results showed that mothers of male infants had higher EPDS scores and these scores were independently associated with infant fussiness. Regardless of maternal preference for or disappointment in sex of infant, mothers of male infants may have slightly more depressive symptoms than mothers of female infants.
MATERNAL AND CHILD HEALTH JOURNAL
(2023)
Article
Genetics & Heredity
Tiahna Moorthy, Huyan Nguyen, Ying Chen, Jehannine Austin, Jordan W. Smoller, Laura Hercher, Maya Sabatello
Summary: Polygenic risk scores (PRS) have potential for identifying common variant-related inheritance for psychiatric conditions, but their integration into clinical practice relies on their clinical utility and psychiatrists' understanding. An online survey with psychiatric genetics professionals revealed that participants showed knowledge in interpreting PRS results. Performance on knowledge-based questions was positively correlated with self-reported familiarity with PRS, but not statistically significant. However, only 48.9% of participants answered all knowledge questions correctly. Many participants (56.5%), especially researchers (42%), reported having occasional conversations about genetics in psychiatric conditions with patients or family members. Most participants (62.7%) indicated that PRS are not yet sufficiently robust for assessing susceptibility to schizophrenia due to low predictive power and lack of population diversity in available PRS. Nonetheless, 89.8% of participants were optimistic about the future use of PRS, suggesting belief in addressing current shortcomings.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2023)
Article
Genetics & Heredity
Morgan N. Driver, Sally I-Chun Kuo, Jacqueline S. Dron, Jehannine Austin, Danielle M. Dick
Summary: To make polygenic risk scores an acceptable clinical practice in psychiatry, it is crucial that receiving polygenic risk scores is associated with minimal harm and behavior changes that decrease the risk of developing a psychiatric outcome. A randomized controlled trial assessed the impact of different levels of hypothetical polygenic risk scores for alcohol use disorder on psychological distress, risk perception, and intentions to change drinking behaviors. The results showed that as the genetic risk for alcohol use disorder increased, there were significant increases in psychological distress and the perceived chance of developing the disorder. However, a higher proportion of participants expressed intentions to engage in risk-reducing behaviors as the genetic risk increased. Returning polygenic risk scores for alcohol use disorder in a clinical setting has the potential to promote behavior change, especially with increasing genetic risk.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2023)
Review
Psychiatry
Mary Bunka, Gavin Wong, Dan Kim, Louisa Edwards, Jehannine Austin, Mary M. Doyle-Waters, Andrea Gaedigk, Stirling Bryan
Summary: Pharmacogenomic (PGx) testing may increase the probability of remission and response in patients with major depressive disorder (MDD) undergoing pharmacotherapy. A systematic review found that PGx-guided care for moderate-to-severe adult depression is more likely to result in remission and response than treatment as usual (TAU). However, there are limitations in the evidence base and further research is needed.
PSYCHIATRY RESEARCH
(2023)
Article
Genetics & Heredity
Kayla Blankenship, Stephanie Chieffo, Emily Morris, Caitlin Slomp, Rolan Batallones, Eloise Prijoles, Crystal Hill-Chapman, Jehannine Austin
Summary: Parents of children with 22q11.2 deletion syndrome (22q11DS) often lack information about the psychiatric manifestations of the condition. An educational booklet specifically addressing psychiatric conditions and 22q11DS was developed and found to improve parents' understanding, decrease worry, and increase confidence in recognizing early warning signs.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Genetics & Heredity
Leah P. Macfadyen, Jehannine Austin, Ping Cao, John Cheng, Carol Cremin, Linda Duong, Alison M. Elliott, Colleen Guimond, Shur Lim, Simone Race, Indhu-Shree Rajan-Babu, Anastasia Richardson, Tasha Wainstein, Farah Zahir, Patricia H. Birch
Summary: This paper discusses the development process of a new online Graduate Certificate in Genomic Counselling and Variant Interpretation (GCGCVI) at The University of British Columbia (UBC). The certificate program was designed to meet the demand for up-to-date genomic counseling skills and knowledge in countries where genetic counseling is a prerequisite for diagnostic genomic testing. The program was developed in collaboration with genetic counselors, geneticists, and online learning specialists, following best practices in online learning design. Learner feedback and learning analytics have been utilized to continuously improve the design of the courses. The program has received approvals and assessments from relevant authorities and has attracted students from various countries.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Psychiatry
Tanisha I. Vallani, Zainab Naqqash, Boyee Lin, Cynthia Lu, Jehannine C. Austin, S. Evelyn Stewart
Summary: Disclosure of OCD diagnosis in high school allows for timely provision of individualized school-based supports. This qualitative study explores adolescent perspectives on the disclosure process and gathers recommendations for making disclosure of OCD at school safer and more helpful. A theoretical model describing the journey from concealment of OCD diagnosis to disclosure is generated, along with recommendations for meaningful education, safe spaces, deep reciprocal connections, and confidential personalized support in the school setting. The developed model can inform school disclosure strategies and optimize support for youth with OCD.
PSYCHIATRY RESEARCH
(2023)
Article
Genetics & Heredity
Prescilla B. Carrion, Jehannine Austin, Alison M. Elliott
Summary: This article describes the integration of a genetic counselor into a primary care clinic in Victoria, Canada, serving a marginalized patient population. The genetic counselor reflects on the challenges and successes during the one-year pilot integration and discusses the potential value of having a genetic counselor embedded in a primary care setting. The article explores the relationship between clinical genetic counseling practice and a culturally safe and trauma informed approach in primary care, and suggests steps to improve access to genetic counseling services for underserved and vulnerable patients.
PUBLIC HEALTH GENOMICS
(2023)
Article
Genetics & Heredity
Stephanie Huynh, Emily Morris, Angela Inglis, Jehannine Austin
Summary: This study explored whether psychiatric genetic counseling can facilitate change in life-style and health behaviors for patients with psychiatric illness, and the results showed that it could improve mental health outcomes by addressing emotions associated with perceived cause of illness and facilitating understanding of etiology and risk-reducing strategies.
PUBLIC HEALTH GENOMICS
(2023)
Letter
Genetics & Heredity
Tasha Wainstein, Alison M. Elliott, Jehannine C. Austin
JOURNAL OF GENETIC COUNSELING
(2023)