The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases—is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.

Emotion-focused, patient-centered interventions like PIPAC hold promise for advancing treatment options in the early and mild stages of dementia. A full-scale, randomized clinical trial of this intervention is warranted to determine both short-term and long-term impacts on clinical outcomes including improved depressive symptomatology, quality of life, and health-related factors that impact daily functioning in social environments.

BackgroundPrecision medicine in oncology relies on rapid associations between patient-specific variations and targeted therapeutic efficacy. Due to the advancement of genomic analysis, a vast literature characterizing cancer-associated molecular aberrations and relative therapeutic relevance has been published. However, data are not uniformly reported or readily available, and accessing relevant information in a clinically acceptable time-frame is a daunting proposition, hampering connections between patients and appropriate therapeutic options. One important therapeutic avenue for oncology patients is through clinical trials. Accordingly, a global view into the availability of targeted clinical trials would provide insight into strengths and weaknesses and potentially enable research focus. However, data regarding the landscape of clinical trials in oncology is not readily available, and as a result, a comprehensive understanding of clinical trial availability is difficult.ResultsTo support clinical decision-making, we have developed a data loader and mapper that connects sequence information from oncology patients to data stored in an in-house database, the JAX Clinical Knowledgebase (JAX-CKB), which can be queried readily to access comprehensive data for clinical reporting via customized reporting queries. JAX-CKB functions as a repository to house expertly curated clinically relevant data surrounding our 358-gene panel, the JAX Cancer Treatment Profile (JAX CTP), and supports annotation of functional significance of molecular variants. Through queries of data housed in JAX-CKB, we have analyzed the landscape of clinical trials relevant to our 358-gene targeted sequencing panel to evaluate strengths and weaknesses in current molecular targeting in oncology. Through this analysis, we have identified patient indications, molecular aberrations, and targeted therapy classes that have strong or weak representation in clinical trials.ConclusionsHere, we describe the development and disseminate system methods for associating patient genomic sequence data with clinically relevant information, facilitating interpretation and providing a mechanism for informing therapeutic decision-making. Additionally, through customized queries, we have the capability to rapidly analyze the landscape of targeted therapies in clinical trials, enabling a unique view into current therapeutic availability in oncology.

Identifying anger levels among caregivers who report symptoms of depression is warranted. Reducing depression in caregivers who report high levels of anger may result in reductions of PHB. Screening for resentment is warranted, as the relation between resentment and anger is similar to that between depression and anger.

Objectives To document the stability, concurrent validity and clinical correlates of two fatigability severity measures as recommended by the American Geriatrics Society. Design Descriptive, cross-sectional. Setting Two independent-living and one community senior centers. Participants 43 volunteers, average age 85 ± 6 years. Measurements Perceived fatigability severity was quantified by directly asking subjects to report change in energy following a standardized 10-minute walk at self-selected pace. Performance fatigability severity was defined as a ratio of change in walking speed and total distance walked. The walk test was repeated within two weeks to assess stability. Total daily physical activity (PA) was measured over seven consecutive days using waist-worn accelerometer. Frailty was measured with the VES13 interview scale and gait speed was measured using standardized 25-feet walk test. Results The perceived and performance fatigability severity measures were significantly correlated (r=.94, p<01) and stable over two assessments (r= .82 and .85, respectively p<.01). Both fatigability severity measures were significantly correlated with PA level (r=−.42 and −.44, respectively p<.05), frailty (r=.47 and .53, respectively p<.01) and gait speed (r= −.45 and −.54 respectively, p<.01.). Conclusion The methodology described in this study permits the calculation of two highly correlated fatigability severity scores, which summarize the relationship of a person’s change in self-reported tiredness or change in physical performance to concurrently measured PA. The fatigability severity scores are reproducible and correlated with clinical measures predictive of decline. The methods used to quantify fatigability severity can be implemented during a brief assessment (< 15 minutes) and should be useful in the design and evaluation of interventions to increase PA in older adults at risk for functional decline.