Genetic counseling clinical documentation: Practice Resource of the National Society of Genetic Counselors.

Clinical documentation is an important extension of a genetic counseling encounter. The traditional types of clinical documentation include the clinical visit note (including follow-up visit note), letter to the referring physician, letter to the patient, and result summary to the patient and referring physician. Increasing patient volumes, new genetic counseling service delivery models, transition to electronic medical records (EMR), new specialty clinics in genetics, and advances in genetic testing technologies challenge the practice of writing multiple types of clinical documents.

Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with a heterogeneous phenotypic spectrum. There is an increased prevalence of monozygotic twinning in BWS. Given the epigenetic nature and phenotypic spectrum that defines BWS, twins are often discordant for clinical features, and clinicians are faced with the challenge of diagnosing and managing these twins.

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.

THOC6 encodes a subunit of the THO complex that is part of a highly conserved transcription and export complex known to have roles in mRNA processing and export. Few homozygous or compound heterozygous variants have been identified in the THOC6 gene in patients with a syndromic form of intellectual disability [Beaulieu-Boycott-Innes syndrome (BBIS); MIM: 613680]. Here we report two additional individuals affected with BBIS originating from the north of Europe and sharing a haplotype composed of three very rare missense changes in the THOC6 gene-Trp100Arg, Val234Leu, Gly275Asp.

Patient and Family Engagement in the Design of a Mobile Health Solution for Pediatric Asthma: Development and Feasibility Study.

Background: Asthma is a highly prevalent, chronic disease with significant morbidity, cost, and disparities in health outcomes. While adherence to asthma treatment guidelines can improve symptoms and decrease exacerbations, most patients receive care that is not guideline-based. New approaches that incorporate shared decision-making (SDM) and health information technology (IT) are needed to positively impact asthma management.

Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Pathogenic variants in genes encoding components of the BRG1-associated factor (BAF) chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain.

Planning for Action: The Impact of an Asthma Action Plan Decision Support Tool Integrated into an Electronic Health Record (EHR) at a Large Health Care System.

Introduction: Asthma is a chronic airway disease that can be difficult to manage, resulting in poor outcomes and high costs. Asthma action plans assist patients with self-management, but provider compliance with this recommendation is limited in part because of guideline complexity. This project aimed to embed an electronic asthma action plan decision support tool (eAAP) into the medical record to streamline evidence-based guidelines for providers at the point of care, create individualized patient handouts, and evaluate effects on disease outcomes.