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 non-clinical) 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 counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined 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 Force's work, key changes and the 2013 PBCs are presented herein.

Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors.

The master's degree is the required entry-level degree for the genetic counseling profession in the US and Canada. In 2012 the Association of Genetic Counseling Program Directors (AGCPD) passed resolutions supporting retention of the master's as the entry-level and terminal degree and opposing introduction of an entry-level clinical doctorate (CD) degree. An AGCPD workgroup surveyed directors of all 34 accredited training programs with the objective of providing the Genetic Counseling Advanced Degrees Task Force (GCADTF) with information regarding potential challenges if master's programs were required to transition to an entry-level CD. Program demographics, projected ability to transition to an entry-level CD, factors influencing ability to transition, and potential effects of transition on programs, students and the genetic counseling workforce were characterized. Two programs would definitely be able to transition, four programs would close, thirteen programs would be at risk to close and fourteen programs would probably be able to transition with varying degrees of difficulty. The most frequently cited limiting factors were economic, stress on clinical sites, and administrative approval of a new degree/program. Student enrollment under an entry-level CD model was projected to decrease by 26.2 %, negatively impacting the workforce pipeline. The results further illuminate and justify AGCPD's position to maintain the master's as the entry-level degree.

Genetic Counselors' and Genetic Counseling Students' Attitudes Around the Clinical Doctorate and Other Advanced Educational Options for Genetic Counselors: A Report from the Genetic Counseling Advanced Degree Task Force.

Since its establishment over 40 years ago, the genetic counseling profession has grown to an estimated ~4,000 professionals in North America. While the profession has maintained the Master's degree as the entry-level and terminal degree, many other allied health professions have added advanced training pathways, such as the clinical doctorate (ClinD) either as an optional post-professional degree or required entry-level degree. Discussions regarding advanced degrees have also occurred within the genetic counseling profession, dating back to as early as the 1980s. In 2011, the Genetic Counseling Advanced Degree Task Force (GCADTF) was convened to explore the issue again, with the goal of "[engaging] all of the professional leadership organizations in the field of genetic counseling in a decision-making process about whether the profession should move to a Clinical Doctorate". As part of their work, the GCADTF surveyed practicing genetic counselors (n = 4,321) and genetic counseling students (n = 522) in the US and Canada regarding their interest in moving to the ClinD as the entry-level degree. This survey also included questions about other options for advanced training to generate data to inform future discussions around this very important professional issue. Herein, we describe the results of the survey, with particular attention to genetic counselor preferences for additional advanced education/certification opportunities and recommendations for future discussion.

Genetic counseling practice analysis.

The American Board of Genetic Counseling (ABGC) performed a genetic counseling practice analysis (PA) to determine the content of the certification examination. The ABGC-appointed PA Advisory Committee worked with psychometricians to develop a survey which was distributed to 2,038 genetic counselors in the United States and Canada. The survey was also accessible on the ABGC website. Multiple criteria were used to establish the significance of the tasks included in the survey. A total of 677 responses were used in the analysis, representing a 37.1% corrected response rate. Five major content domains with 143 tasks were identified in the PA. New certification test specifications were developed on the basis of PA results and will be used in developing future examination forms. In keeping with credentialing standards, ABGC plans to conduct a PA on a regular basis so that the content of the examination reflects current practice.

Pharmacy Technician Review of Oral Nutritional Supplements (ONS) within Care Homes.

Up to 42% of patients admitted to care homes are at risk of malnutrition. Oral nutritional supplements (ONS) can be prescribed to increase nutritional intake when diet alone is insufficient to meet daily nutritional requirements. Where ONS are inappropriately initiated or continued beyond treatment goals this can contribute to significant waste and unnecessary costs. This study reviewed whether pharmacy technicians working in care home settings can support the cost-effective use of ONS. A quality improvement project using Plan-Do-Study-Act (PDSA) methodology was undertaken by pharmacy technicians working in care homes to review the prescribing and monitoring of ONS. A sample of 330 residents were reviewed across 5 care homes. 45 residents were prescribed ONS, 16 of whom were unknown to dietitians. In collaboration with the dietetic service an oral nutritional support flow chart was developed and tested. Thirteen of the 16 residents unknown to the dietetic team did not require ONS and could be considered for alternative dietary options. Through collaborative working with dietetic services, pharmacy technicians can support effective use and review of ONS for care home residents, reduce unnecessary prescribing, and ensure appropriate referral to dietitians where indicated.

The Specification of Geometric Edges by a Plant Rab GTPase Is an Essential Cell-Patterning Principle During Organogenesis in Arabidopsis.

Plant organogenesis requires control over division planes and anisotropic cell wall growth, which each require spatial patterning of cells. Polyhedral plant cells can display complex patterning in which individual faces are established as biochemically distinct domains by endomembrane trafficking. We now show that, during organogenesis, the Arabidopsis endomembrane system specifies an important additional cellular spatial domain: the geometric edges. Previously unidentified membrane vesicles lying immediately beneath the plasma membrane at cell edges were revealed through localization of RAB-A5c, a plant GTPase of the Rab family of membrane-trafficking regulators. Specific inhibition of RAB-A5c activity grossly perturbed cell geometry in developing lateral organs by interfering independently with growth anisotropy and cytokinesis without disrupting default membrane trafficking. The initial loss of normal cell geometry can be explained by a failure to maintain wall stiffness specifically at geometric edges. RAB-A5c thus meets a requirement to specify this cellular spatial domain during organogenesis.

The impact of STN deep brain stimulation on speech in individuals with Parkinson's disease: the patient's perspective.

BACKGROUND: Speech disturbance is highly prevalent and disabling for individuals with Parkinson's disease (PD). Deep brain stimulation (DBS) has been found to adversely impact speech in a number of individuals with PD. This study investigated the differential speech profiles between individuals with PD with and without DBS from the patient's perspective. METHODS: A cross sectional research design was used. A total of 758 individuals with PD participated in this study, including 287 individuals with DBS and 471 individuals without DBS. Participants completed the Voice Handicap Index (VHI) and additional questions regarding speech symptoms and the impact of speech on social interaction. RESULTS: Independent of age and disease duration, there were statistically significant differences in perceived speech disturbance severity between the STN-DBS group and Non-DBS group, with the DBS group reporting more severe symptoms as well as more significant symptom interference with social interaction and with daily experiences encountered relating to functional, physical, and emotional issues of a voice disorder (VHI). Low volume was the "most common" speech symptom for all individuals with PD patients across both age (younger and older) and disease duration (6-10 years and 11+ years) cohorts. DBS had the greatest adverse impact on "slurred speech." CONCLUSION: DBS therapy's contribution to speech disturbance is gaining more attention, and the speech symptoms ensuing from and/or being exacerbated by DBS are in the incipient stages of being investigated. Implications for DBS therapy on perceived quality of life are discussed.

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

We demonstrate the utility of an exon coverage microarray platform in detecting intragenic deletions: one in exons 24-27 of the EP300 gene and another in exons 27 and 28 of the CREBBP gene in two patients with Rubinstein-Taybi syndrome (RSTS). RSTS is a heterogeneous disorder in which approximately 45-55% of cases result from deletion or mutations in the CREBBP gene and an unknown portion of cases result from gene changes in EP300. The first case is a 3-year-old female with an exonic deletion of the EP300 gene who has classic facial features of RSTS without the thumb and great toe anomalies, consistent with the milder skeletal phenotype that has been described in other RSTS cases with EP300 mutations. In addition, the mother of this patient also had preeclampsia during pregnancy, which has been infrequently reported. The second case is a newborn male who has the classical features of RSTS. Our results illustrate that exon-targeted array comparative genomic hybridization (aCGH) is a powerful tool for detecting clinically significant intragenic rearrangements that would be otherwise missed by aCGH platforms lacking sufficient exonic coverage or sequencing of the gene of interest.

De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature.

We describe a 12-year-old patient, the second live born prenatally ascertained patient in the literature, with a de novo isodicentric X chromosome, karyotype 46,X,idic(X)(q24), with normal growth and development and lack of dysmorphic features. Molecular and cytogenetic studies were performed to further characterize the isodicentric chromosome X behavior. Literature on isodicentric X chromosomes with various breakpoints on Xq is reviewed and summarized.