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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. [ABSTRACT FROM AUTHOR]

Extensive research has shown the potential value of digital health solutions and highlighted the importance of clinicians' adoption. As general practitioners (GPs) are patients' first point of contact, understanding influencing factors to their digital health adoption is especially important to derive personalized practical recommendations. Using a mixed-methods approach, this study broadly identifies adoption barriers and potential improvement strategies in general practices, including the impact of GPs' inherent characteristics - especially their personality - on digital health adoption. Results of our online survey with 216 GPs reveal moderate overall barriers on a 5-point Likert-type scale, with required workflow adjustments (M = 4.13, SD = 0.93), inadequate reimbursement (M = 4.02, SD = 1.02), and high training effort (M = 3.87, SD = 1.01) as substantial barriers. Improvement strategies are considered important overall, with respondents especially wishing for improved interoperability (M = 4.38, SD = 0.81), continued technical support (M = 4.33, SD = 0.91), and improved usability (M = 4.20, SD = 0.88). In our regression model, practice-related characteristics, the expected future digital health usage, GPs' digital affinity, several personality traits, and digital maturity are significant predictors of the perceived strength of barriers. For the perceived importance of improvement strategies, only demographics and usage-related variables are significant predictors. This study provides strong evidence for the impact of GPs' inherent characteristics on barriers and improvement strategies. Our findings highlight the need for comprehensive approaches integrating personal and emotional elements to make digitization in practices more engaging, tangible, and applicable., (© 2024. The Author(s).)

Background: Various studies propose the significance of digital maturity in ensuring effective patient care and enabling improved health outcomes, a successful digital transformation, and optimized service delivery. Although previous research has centered around inpatient health care settings, research on digital maturity in general practices is still in its infancy., Objective: As general practitioners (GPs) are the first point of contact for most patients, we aimed to shed light on the pivotal role of GPs' inherent characteristics, especially their personality, in the digital maturity of general practices., Methods: In the first step, we applied a sequential mixed methods approach involving a literature review and expert interviews with GPs to construct the digital maturity scale used in this study. Next, we designed a web-based survey to assess digital maturity on a 5-point Likert-type scale and analyze the relationship with relevant inherent characteristics using ANOVAs and regression analysis., Results: Our web-based survey with 219 GPs revealed that digital maturity was overall moderate (mean 3.31, SD 0.64) and substantially associated with several characteristics inherent to the GP. We found differences in overall digital maturity based on GPs' gender, the expected future use of digital health solutions, the perceived digital affinity of medical assistants, GPs' level of digital affinity, and GPs' level of extraversion and neuroticism. In a regression model, a higher expected future use, a higher perceived digital affinity of medical assistants, a higher digital affinity of GPs, and lower neuroticism were substantial predictors of overall digital maturity., Conclusions: Our study highlights the impact of GPs' inherent characteristics, especially their personality, on the digital maturity of general practices. By identifying these inherent influencing factors, our findings support targeted approaches to drive digital maturity in general practice settings., (©Lisa Weik, Leonard Fehring, Achim Mortsiefer, Sven Meister. Originally published in the Journal of Medical Internet Research (https://www.jmir.org), 22.01.2024.)

Septo-optic dysplasia (SOD) is a developmental phenotype characterized by midline neuroradiological anomalies, optic nerve hypoplasia, and pituitary anomalies, with a high degree of variability and additional systemic anomalies present in some cases. While disruption of several transcription factors has been identified in SOD cohorts, most cases lack a genetic diagnosis, with multifactorial risk factors being thought to play a role. Exome sequencing in a cohort of families with a clinical diagnosis of SOD identified a genetic diagnosis in 3/6 families, de novo variants in SOX2 , SHH , and ARID1A , and explored variants of uncertain significance in the remaining three. The outcome of this study suggests that investigation for a genetic etiology is warranted in individuals with SOD, particularly in the presence of additional syndromic anomalies and when born to older, multigravida mothers. The identification of causative variants in SHH and ARID1A further expands the phenotypic spectra associated with these genes and reveals novel pathways to explore in septo-optic dysplasia.

Essentials How thrombocytopenia relates to bleeding in 22q11 deletion syndrome (22q11DS) is not clear. Bleeding severity, platelet count and volume, and GPIBB were examined in patients with 22q11DS. Macrothrombocytopenia and bleeding typified imperfectly overlapping subsets of 22q11DS patients. GPIBB hemizygosity does not cause macrothrombocytopenia or bleeding in patients with 22q11DS. SUMMARY: Background and objectives Macrothrombocytopenia and bleeding are frequently associated with 22q11 deletion syndrome (22q11DS). GPIBB, which encodes the glycoprotein (GP) Ibβ subunit of GPIb-IX-V, is commonly deleted in patients with 22q11DS. Absence of functional GPIb-IX-V causes Bernard-Soulier syndrome, which is a severe bleeding disorder characterized by macrothrombocytopenia. Patients with 22q11DS are often obligate hemizygotes for GPIBB, and those with only a pathogenically disrupted copy of GPIBB present with Bernard-Soulier syndrome. The objective of this study was to determine how GPIBB hemizygosity and sequence variation relate to macrothrombocytopenia and bleeding in patients with 22q11DS who do not have Bernard-Soulier syndrome. Patients/methods We thoroughly characterized bleeding severity, mean platelet volume, platelet count and GPIBB copy number and sequence in patients with 22q11DS. Results and conclusions Macrothrombocytopenia and mild bleeding were observed in incompletely overlapping subsets of patients, and GPIBB copy number and sequence variation did not correlate with either macrothrombocytopenia or bleeding in patients with 22q11DS. These findings indicate that GPIBB hemizygosity does not result in either macrothrombocytopenia or bleeding in these patients. Alternative genetic causes of macrothrombocytopenia, potential causes of acquired thrombocytopenia and bleeding and ways in which platelet size, platelet count and GPIBB sequence information can be used to aid in the diagnosis and management of patients with 22q11DS are discussed., (© 2018 International Society on Thrombosis and Haemostasis.)

To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al., 2002; Zou et al., 2009; Guilherme et al., 2014).

Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for which recent evidence indicates an important etiologic role for rare copy number variants (CNVs) and suggests common genetic mechanisms. We performed cytogenomic array analysis in a discovery sample of patients with neurodevelopmental disorders referred for clinical testing. We detected a recurrent 1.4 Mb deletion at 17q12, which harbors HNF1B, the gene responsible for renal cysts and diabetes syndrome (RCAD), in 18/15,749 patients, including several with ASD, but 0/4,519 controls. We identified additional shared phenotypic features among nine patients available for clinical assessment, including macrocephaly, characteristic facial features, renal anomalies, and neurocognitive impairments. In a large follow-up sample, the same deletion was identified in 2/1,182 ASD/neurocognitive impairment and in 4/6,340 schizophrenia patients, but in 0/47,929 controls (corrected p = 7.37 × 10⁻⁵). These data demonstrate that deletion 17q12 is a recurrent, pathogenic CNV that confers a very high risk for ASD and schizophrenia and show that one or more of the 15 genes in the deleted interval is dosage sensitive and essential for normal brain development and function. In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only., (Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)