Community-driven partnerships with Community-Engaged Research teams bring resources and reliable information to Baltimore residents.

This case study presents an analysis of community-driven partnerships, focusing on the nonprofit Baltimore CONNECT (BC) network and its collaborative efforts with a Community-Engaged Research (CEnR) team of the Johns Hopkins Institute for Clinical and Translational Research (ICTR). BC has built a network of over 30 community-based organizations to provide health and social services in Baltimore City. The study emphasizes the role of CEnR in supporting community-led decision-making, specifically in the planning and implementation of community health resource fairs.

Latina immigrants' breast and colon cancer causal attributions: genetics is key.

Latinos in the US suffer health disparities including stage of disease at time of breast or colon cancer diagnosis. Understanding Latinas' causal attributions of breast and colon cancer may provide insight into some of the individual level determinants of cancer disparities in this population. Cultural consensus analysis (CCA) is one way to study causal beliefs.

Feasibility of the Genetic Information Assistant Chatbot to Provide Genetic Education and Study Genetic Test Adoption Among Pancreatic Cancer Patients at Johns Hopkins Hospital.

Genetic testing is a valuable tool to guide care of pancreatic cancer patients, yet personal and family uncertainty about the benefits of genetic testing (i.e., decisional conflict) may lead to low adoption.

Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review.

Aneurysmal lesions are commonly seen in Ehlers-Danlos Syndrome (EDS). To better identify the regional and vessel-specific spectrum of aneurysms in different subtypes of EDS, we performed a systematic review. We searched Medline for relevant studies from 1963 to April 2022.

Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common disorder in children and adolescents that negatively impacts health-related quality of life (HRQOL). It can include chronic pain, fatigue, autonomic dysfunction, and mood problems. The objective of this study was to examine levels of agreement between children and parents in the setting of hEDS and HRQOL.

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.

Background: Duplication of the distal end of chromosome 15q has been previously implicated in a characteristic overgrowth syndrome. Additionally, many patients have other congenital malformations, including cardiac, renal, genital, and musculoskeletal anomalies. However, some patients may present with intrauterine growth restriction and short stature.

Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4.

Background: Ovarian sex cord-stromal tumors (OSCTs) are rare ovarian tumors that can develop from sex cord, stromal cells, or both. OSCTs can be benign or malignant. Bilateral and/or unilateral ovarian fibromas, a type of OSCT of the stromal cells, have been reported in individuals diagnosed with nevoid basal cell carcinoma syndrome (NBCCS).

Considerations in Methods and Timing for Delivery of Genetic Counseling Information to Pediatric Oncology Patients and Families.

Many pediatric oncology patients and their families may benefit from genetic counseling and testing; however, identifying the best timing and delivery method for these referrals is sometimes a challenge. The goal of this study was to understand how and when caregivers prefer to receive information about genetic counseling and testing. A total of 56 surveys completed by caregivers at The Johns Hopkins Hospital Pediatric Oncology unit in Baltimore, Maryland were analyzed.

Post Graduate Education: Is Genomics Included on Board Certification Exams?

Integrating clinical genetic education in physician training is an important strategic approach in the era of genomic medicine. To understand how much the board examinations of the American Board of Medical Specialties contain genomics-related content, a descriptive analysis of 21 exam blueprints was performed. Topics in genomics were not included in 43% of specialty blueprints which shows underrepresentation of clinical genetics in graduate medical education curricula.

The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.

Pathogenic variations in the OTOF gene are a common cause of hearing loss. To refine the natural history and genotype-phenotype correlations of OTOF-related auditory neuropathy spectrum disorders (ANSD), audiograms and distortion product otoacoustic emissions (DPOAEs) were collected from a diverse cohort of individuals diagnosed with OTOF-related ANSD by comprehensive genetic testing and also reported in the literature. Comparative analysis was undertaken to define genotype-phenotype relationships using a Monte Carlo algorithm.

Demographic and socioeconomic trends in DNA banking utilization in the USA.

Demographic and clinical information from de-identified individuals utilizing a single DNA banking service over a 22-year period was assessed using descriptive statistics. The socioeconomic characteristics of the study population were estimated using a zip code-level analysis of US Census data and compared to national US Metrics for 2016. Samples from 4,874 individuals were deposited to a single commercial DNA bank from 1997 to 2019.

The 2019 US medical genetics workforce: a focus on clinical genetics.

Purpose: This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development.

Methods: A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing clinical geneticists.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.

Reversible modification of proteins with linkage-specific ubiquitin chains is critical for intracellular signaling. Information on physiological roles and underlying mechanisms of particular ubiquitin linkages during human development are limited. Here, relying on genomic constraint scores, we identify 10 patients with multiple congenital anomalies caused by hemizygous variants in , encoding a K48/K63 linkage-specific deubiquitylase.

Improving Detection of Cancer Predisposition Syndromes in Pediatric Oncology.

Implementation and adherence to consensus statement criteria for referral of pediatric cancer patients for genetic evaluation are critical to identify the 5% to 10% with a genetic cancer predisposition syndrome. The authors implemented a Plan-Do-Study-Act quality improvement initiative aimed at increasing referrals of at-risk patients. Retrospective chart review was followed by educational intervention-with impact assessed over a 9-month prospective chart review.

An Integrative Review of Family Health History in Pediatrics.

The aim of this integrative review is to investigate current literature regarding family health history (FHH) taking practices, attitudes, and challenges in the pediatric outpatient setting. FHH is a known clinical tool for providers; however, there are no explicit standards for pediatric FHH collection. The integrative review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines.

"It's a Little Different for Men"-Sponsorship and Gender in Academic Medicine: a Qualitative Study.

Background: Women remain underrepresented in top leadership positions in academic medicine. In business settings, a person with power and influence actively supporting the career advancement of a junior person is referred to as a sponsor and sponsorship programs have been used to diversify leadership. Little is known about how sponsorship functions in academic medicine.

A structured genetics rotation for pediatric residents: an important educational opportunity.

Purpose: As the integral role of genetics in health and disease becomes increasingly understood, pediatricians must incorporate genetic principles into their care of patients. Structured exposure to genetics during residency may better equip future pediatricians to meet this goal.

Methods: Pediatric interns in the Johns Hopkins pediatric residency program have the option to spend one week immersed in clinical genetics by attending outpatient clinics and seeing inpatient consults.

Correction: Regional models of genetic services in the United States.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Regional models of genetic services in the United States.

Purpose: To outline structures for regional genetic services support centers that improve access to clinical genetic services.

Methods: A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering health care through a regional infrastructure, especially for genetic conditions; (2) analyzed data from a needs assessment conducted by the National Coordinating Center (NCC) to determine important components of a regional genetic services support center; and (3) prioritized components of a regional genetic services support system.

Results: Analysis of identified priorities and existing regional systems led to development of eight models for regional genetic services support centers.