We investigated the clinical pharmacokinetics of azidothymidine (N3TdR) as part of a phase I/II trial in the treatment of acquired immunodeficiency syndrome and related diseases. During the 6-week course of therapy, drug levels in plasma, cerebrospinal fluid, and urine were determined by HLPC. The plasma half-life of N3TdR was 1.1 hour. The total body clearance was 1.3 L/kg/hr. At intravenous doses of 5 mg/kg or oral doses of 10 mg/kg, plasma levels were continuously maintained above the target level of 1 mumol/L. Oral bioavailability was 63% +/- 13%. Substantial penetration of N3TdR into cerebrospinal fluid was demonstrated. At doses of 5 mg/kg intravenously or 10 mg/kg orally, cerebrospinal fluid drug levels exceeded and were maintained close to 1 mumol/L. Nineteen percent of the administered dose was excreted unchanged into the urine. Renal clearance was 0.23 L/kg/hr. N3TdR possesses pharmacokinetic properties that would facilitate the long-term treatment of patients with acquired immunodeficiency syndrome: it can be given orally and it penetrates the central nervous system.

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Genomic discoveries will increasingly advance the science of medicine. Limited genomic literacy may adversely impact the public’s understanding and use of the power of genetics and genomics in health care and public health. In November 2011, a meeting was held by the National Human Genome Research Institute to examine the challenge of achieving genomic literacy for the general public, from K-12 to adult education. The role of the media in disseminating scientific messages and in perpetuating, or reducing, misconceptions was also discussed. Workshop participants agreed that genomic literacy will only be achieved through active engagement between genomics experts and the varied constituencies that comprise the public. This report summarizes the background, content, and outcomes from this meeting, including recommendations for a research agenda to inform decisions about how to advance genomic literacy in our society.

Genetic counseling and testing for HNPCC significantly influences the use of colonic endoscopy and adherence to recommendations for colon cancer screening.

Genetic counseling and testing offers the potential to focus cancer screening resources in individuals truly at increased risk, thereby reducing mortality and morbidity. Fears of discrimination and concerns about psychological and psychosocial issues may present barriers to the use of current cancer prevention strategies, including genetic counseling and testing.

Background: Although sickle cell trait (SCT) is largely a benign carrier state, it may increase risk for certain clinical outcomes. Purpose: To evaluate associations between SCT and clinical outcomes in children and adults. Data Sources: English-language searches of PubMed, CINAHL, the Cochrane Library, Current Contents Connect, Scopus, and Embase (1 January 1970 to 30 June 2018) and bibliographies of review articles. Study Selection: Observational controlled studies (published in English) in children or adults that examined an association between SCT and any of 24 clinical outcomes specified a priori in the following 6 categories: exertion-related injury; renal, vascular, pediatric, and surgery- or trauma-related out- comes; and overall mortality. Data Extraction: A single reviewer extracted study data, which was checked by another; 2 reviewers independently assessed study quality; and strength of evidence was assessed by consensus. Data Synthesis: Of 7083 screened studies, 41 met inclusion criteria. High-strength evidence supported a positive association between SCT and risk for pulmonary embolism, proteinuria, and chronic kidney disease. Moderate-strength evidence supported a positive association between SCT and exertional rhabdomyolysis and a null association between SCT and deep venous thrombosis, heart failure or cardiomyopathy, stroke, and pediatric height or weight. Absolute risks for thromboembolism and rhabdomyolysis were small. For the remaining 15 clinical outcomes, data were insufficient or strength of evidence was low. Limitation: Publication bias was possible, and high-quality evidence was scant. Conclusion: Sickle cell trait is a risk factor for a few adverse health outcomes, such as pulmonary embolism, kidney disease, and exertional rhabdomyolysis, but does not seem to be associated with such complications as heart failure and stroke. Insufficient data or low-strength evidence exists for most speculated complications of SCT.

Aim Genomics has the potential to improve personalized healthcare. Nurses are vital to the utilization of genomics in practice. This study assessed nursing attitudes, receptivity, confidence, competency, knowledge and practice in genomics to inform education efforts. Materials & methods Cross-sectional study of registered nurses who completed an online Genetic/Genomic Nursing Practice Survey posted on a national nursing organization website. Results A total of 619 registered nurses participated. The largest proportion of education level were nurses with a baccalaureate degree (39%). Most (67.5%) considered genomics very important to nursing practice. However, 57% reported their genomic knowledge base to be poor or fair. The mean total knowledge score correct response rate was 75%. Yet 60% incorrectly answered that diabetes and heart disease are caused by a single gene variant. Most (64%) had never heard of the Essential Nursing Competencies and Curricula Guidelines in Genomics. Higher academic education or post licensure genetic education increased family history collection in practice. Conclusion Most nurses are inadequately prepared to translate genomic information into personalized healthcare. Targeted genomic education is needed to assure optimal workforce preparation for genomics practice integration.

As science advances, new competencies must be integrated into nursing practice to ensure the provision of safe, responsible, and accountable care. This article utilizes a model for integrating a new complex competency into nursing practice, using genomics as the exemplar competency. Nurses working at 23 Magnet® Recognition Program hospitals participated in a 1-year new competency integration effort.The aim of the study was to evaluate nursing workforce attitudes, receptivity, confidence, competency, knowledge, and practices regarding genomics. Results were analyzed using descriptive statistical techniques. Respondents were 7,798 licensed registered nurses. The majority (89%) said it was very or somewhat important for nurses to become more educated in the genetics of common diseases. Overall, the respondents felt genomics was important, but a genomic nursing competency deficit affecting all nurses regardless of academic preparation or role was observed. The study findings provide essential information to help guide the integration of a new competency into nursing practice.