Frailty and Determinants of Health Among Older Adults in the United States 2011-2016.

OBJECTIVE: To characterize frailty phenotype in a representative cohort of older Americans and examine determinants of health factors. METHODS: Retrospective analysis of data from 5,553 adults ≥60 years old in the 2011-2016 cross-sectional National Health and Nutrition Examination Survey (NHANES). World Health Organization "Determinants of Health" conceptual model was used to prioritize variables for multinomial logistic regression for the outcome of modified Fried frailty phenotype. RESULTS: 482 participants (9%) were frail and 2432 (44%) prefrail. Four factors were highly associated with frailty: difficulty with ≥1 activity of daily living (77%; OR 24.81 p < 0.01), ≥2 hospitalizations in the previous year (17%, OR 3.94 p < 0.01), having >2 comorbidities (27%; OR 3.33 p < 0.01), and polypharmacy (66%; OR 2.38 p < 0.01). DISCUSSION: A modified Fried frailty assessment incorporating five self-reported criteria may be useful as a rapid nursing screen in low-resource settings. These assessments can streamline nursing care coordination and case management activities, thereby facilitating targeted frailty interventions to support healthy aging in vulnerable populations.

Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems.

Introduction: The precision medicine (PM) era presents unprecedented proliferation of genetic/genomic initiatives, information, and bioinformatic tools to enhance targeted molecular diagnosis and therapeutic treatments. As of February 29, 2020, the National Institutes of Health (NIH) National Center for Biotechnology Information (NCBI) Genetic Testing Registry contained 64,860 genetic tests for 12,268 conditions and 18,686 genes from 560 laboratories, and the Food and Drug Administration had 404 entries for pharmacogeneomic biomarkers used in drug labeling. Population-based research initiatives including NIH's All of Us and Veterans Affairs' Million Veteran Program, and the UK Biobank, combine use of genomic biorepositories with electronic medical records (i.e., National Human Genome Research Institute's [NHGRI's] electronic Medical Records and Genomics [eMERGE] Network). Learning health care systems are implementing clinical genomics screening programs and precision oncology programs. However, there are insufficient medical geneticists, nurse geneticists, and genetics counselors to implement expanding number of clinical genetic tests that are required for PM implementation. Methods: A scoping review of current (2014-2019) trends in U.S. genomic medicine translation, PM health care provider workforce education and training resources, and genomic clinical decision support (CDS) implementation tools was conducted. Results: Health care delivery institutions and systems are beginning to implement genetic tests that are driving PM, particularly in the areas of oncology, pharmacogenetics, obstetrics, and prenatal diagnostics. To ensure safe adoption and clinical translation of PM, health care systems have an ethical responsibility to ensure their providers and front-line staff are adequately prepared to order, use, and interpret genetic test information. Conclusion: There are a number of high-quality evidenced-based educational resources and CDS tools available. Strong partnerships between health care system leaders, front-line providers and staff coupled with reasonable goal setting can help drive PM translation interests.

Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.

Many folate-related genes have been investigated for possible causal roles in neural tube defects (NTDs) and oral clefts. However, no previous reports have examined the major gene responsible for folate uptake, the proton-coupled folate transporter (SLC46A1). We tested for association between these birth defects and single nucleotide polymorphisms in the SLC46A1 gene. The NTD study population included 549 complete and incomplete case-family triads, and 999 controls from Ireland. The oral clefts study population comprised a sample from Utah (495 complete and incomplete case-family triads and 551 controls) and 221 Filipino multiplex cleft families. There was suggestive evidence of increased NTD case risk with the rs17719944 minor allele (odds ratio (OR): 1.29; 95% confidence intervals (CI): [1.00-1.67]), and decreased maternal risk of an NTD pregnancy with the rs4795436 minor allele (OR: 0.62; [0.39-0.99]). In the Utah sample, the rs739439 minor allele was associated with decreased case risk for cleft lip with cleft palate (genotype relative risk (GRR): 0.56 [0.32-0.98]). Additionally, the rs2239907 minor allele was associated with decreased case risk for cleft lip with cleft palate in several models, and with cleft palate only in a recessive model (OR: 0.41; [0.20-0.85]). These associations did not remain statistically significant after correcting for multiple hypothesis testing. Nominal associations between SLC46A1 polymorphisms and both Irish NTDs and oral clefts in the Utah population suggest some role in the etiology of these birth defects, but further investigation in other populations is needed.

Hereditary nonpolyposis colorectal cancer (Lynch syndrome): molecular pathogenesis and clinical approaches to diagnosis and management for nurses.

Hereditary nonpolyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is the most common form of hereditary colorectal cancer and is responsible for 2% to 4% of all colorectal cancers in the Western hemisphere. Generally characterized by early-onset colorectal carcinoma with a mean age of presentation of 40 to 45 years, it can also manifest with extracolonic adenocarcinomas and cancers of the endometrium, ovaries, stomach, pancreas, small intestine, hepatobiliary tract, upper uroepithelial tract, brain, and skin. HNPCC is autosomal dominant and carries an 80% lifetime risk of cancer development. This review addresses the molecular underpinnings of HNPCC while providing a concise approach to clinical detection, diagnosis, and management of patients who may or may not test positive for an HNPCC-causing mutation. Although applicable to any patient-care setting in which cancer may be observed, this review specifically addresses the role of nurses in detecting, diagnosing, and clinically managing HNPCC.