The incidence appears to be increasing.

Purpose: Diagnosing monogenic diseases facilitates optimal care, but can involve the manual evaluation of hundreds of genetic variants per case. Computational tools like Phrank expedite this process by ranking all candidate genes by their ability to explain the patient’s phenotypes. To use these tools, busy clinicians must manually encode patient phenotypes from lengthy clinical notes. With 100 million human genomes estimated to be sequenced by 2025, a fast alternative to manual phenotype extraction from clinical notes will become necessary. Methods: We introduce ClinPhen, a fast, high-accuracy tool that automatically converts clinical notes into a prioritized list of patient phenotypes using Human Phenotype Ontology (HPO) terms. Results: ClinPhen shows superior accuracy and 20× speedup over existing phenotype extractors, and its novel phenotype prioritization scheme improves the performance of gene-ranking tools. Conclusion: While a dedicated clinician can process 200 patient records in a 40-hour workweek, ClinPhen does the same in 10 minutes. Compared with manual phenotype extraction, ClinPhen saves an additional 3–5 hours per Mendelian disease diagnosis. Providers can now add ClinPhen’s output to each summary note attached to a filled testing laboratory request form. ClinPhen makes a substantial contribution to improvements in efficiency critically needed to meet the surging demand for clinical diagnostic sequencing.

Cancer screening rates are lower among Asian Americans than the general USA population. While prior studies examined characteristics of Asian American patients as predictors of cancer screening, few investigated their health care providers. Asian American primary care physicians practicing in New York City were surveyed by questionnaire regarding their demographics, practice characteristics, and cancer screening of their Asian American patients. Of the 117 eligible respondents, 96% recommended mammograms to their Asian patients 50+ years of age and 70% to patients 40-49-year-old. Only 30% of respondents use both age and onset of sexual activity to determine when to recommend Pap smears. For colorectal cancer screening, the rates of performing fecal occult blood testing or recommending colonoscopy or sigmoidoscopy were 77% and 74%. About 70% recommend screening for hepatitis B. Gender and ethnicity of the physician were found to be significant predictors for cancer screening practice.

We aimed to determine the yield of positive head computed tomography (CT) findings among suspected alcohol-intoxicated patients presenting to the emergency department (ED). Our secondary aim was to determine if elderly intoxicated patients were more likely to have an intracranial injury. We identified patients suspected of alcohol intoxication who underwent CT scanning in the ED over a 4-year period. Pre-determined data elements including demographics, diagnosis, and disposition were extracted using a pre-formatted data sheet by blinded abstractors. "Positive" CT was defined as evidence of any type of intracranial hemorrhage. A total of 2,671 subjects with suspected alcohol intoxication and a head CT were identified. Fifty out of the 2,671 (1.9%) had a positive CT. Among CT scans of elderly (≥60 years of age) subjects, 15/555 (2.7%, 95% CI = 1.4-4.1%) were positive compared with 35/2,116 (1.7%, 95% CI = 1.1-2.2%) among those <60 years of age (p = 0.11). The yield of positive head CT among alcohol-intoxicated patients was low, at 1.9%. An age cutoff of 60 years in this population did not predict a significantly higher positive rate.