Background: Genetic diseases represent a significant public health challenge in China that will need to be addressed by a correspondingly large number of professional genetic counselors. However, neither an official training program for genetic counseling, nor formal board certification, was available in China before 2015. In 2009, a genetic counseling training program based on role-playing was implemented as a pilot study at the Third Military Medical University to train third-year medical students.
Methods: Questionnaires on participant attitudes to the program and role-playing were randomly administered to 324 students after they had finished their training. Pre- and post-training instructional tests, focusing on 42 key components of genetic counseling, were administered randomly to 200 participants to assess mastery of each component. Finally, scores in final examinations of 578 participants from 2009 to 2011 were compared to scores obtained by 614 non-participating students from 2006 to 2008 to further assess program efficacy.
Results: Both the training program and the instructional strategy of role-playing were accepted by most participants. Students believed that role-playing improved their practice of genetic counseling and medical genetics, enhanced their communication skills, and would likely contribute to future professional performance. The average understanding of 40 of the key points in genetic counseling was significantly improved, and most students approached excellent levels of mastery. Scores in final examinations and the percentages of students scoring above 90 were also significantly elevated.
Conclusions: Role-playing is a feasible and effective instructional strategy for training genetic counselors in China as well as in other developing countries.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010759 | PMC |
http://dx.doi.org/10.1186/s12909-016-0756-4 | DOI Listing |
Neurology
February 2025
Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, the Netherlands.
Background And Objectives: Identifying genetic causes of dementia in patients visiting memory clinics is important for patient care and family planning. Traditional clinical selection criteria for genetic testing may miss carriers of pathogenic variants in dementia-related genes. This study aimed identify how many carriers we are missing and to optimize criteria for selecting patients for genetic counseling in memory clinics.
View Article and Find Full Text PDFCurr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
View Article and Find Full Text PDFInt J Gynecol Pathol
January 2025
Department of Pathology and Immunology, Washington University.
High-grade serous carcinomas (HGSCs) with homologous recombination deficiency (HRD) respond favorably to platinum therapy and poly ADP ribose polymerase (PARP) inhibitors. Mutations in BRCA1 and BRCA2 commonly cause HRD and have been associated with Solid, pseudoEndometrioid, and Transitional-like (SET-like) histology. Mutations in other homologous recombination repair (HRR) genes as well as epigenetic changes can also result in HRD; however, morphologic correlates have not been well-explored in these cases.
View Article and Find Full Text PDFJ Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Ann Clin Transl Neurol
January 2025
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Biallelic loss-of-function variants in AP4S1 cause childhood-onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same AP4S1 variant (NM_007077.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!