11 research outputs found
2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling
The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and nonâclinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselorsâ roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the preâdefined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Forceâs work, key changes and the 2013 PBCs are presented herein.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147172/1/jgc40868.pd
Talking about depression : an analogue study of physician gender and communication style on patient disclosures
Objectives
To disentangle the effects of physician gender and patient-centered communication style on patientsâ oral engagement in depression care.
Methods
Physician gender, physician race and communication style (high patient-centered (HPC) and low patient-centered (LPC)) were manipulated and presented as videotaped actors within a computer simulated medical visit to assess effects on analogue patient (AP) verbal responsiveness and care ratings. 307 APs (56% female; 70% African American) were randomly assigned to conditions and instructed to verbally respond to depression-related questions and indicate willingness to continue care. Disclosures were coded using Roter Interaction Analysis System (RIAS).
Results
Both male and female APs talked more overall and conveyed more psychosocial and emotional talk to HPC gender discordant doctors (all p < .05). APs were more willing to continue treatment with gender-discordant HPC physicians (p < .05). No effects were evident in the LPC condition.
Conclusions
Findings highlight a role for physician gender when considering active patient engagement in patient-centered depression care. This pattern suggests that there may be largely under-appreciated and consequential effects associated with patient expectations in regard to physician gender that these differ by patient gender.
Practice implications
High patient-centeredness increases active patient engagement in depression care especially in gender discordant dyads
Mutation spectrum in the large GTPase dynamin 2, and genotypeâphenotype correlation in autosomal dominant centronuclear myopathy
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 ( DNM2 ), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNMârelated DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first spliceâsite mutation. Genotypeâphenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with CharcotâMarieâTooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissueâspecific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33:949â959, 2012. © 2012 Wiley Periodicals, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/92087/1/22067_ftp.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/92087/2/humu_22067_sm_SuppInfo.pd