Privacy-preserving genomic testing in the clinic: a model using HIV treatment

PURPOSE The implementation of genomic-based medicine is hindered by unresolved questions regarding data privacy and delivery of interpreted results to health-care practitioners. We used DNA-based prediction of HIV-related outcomes as a model to explore critical issues in clinical genomics. METHODS We genotyped 4,149 markers in HIV-positive individuals. Variants allowed for prediction of 17 traits relevant to HIV medical care, inference of patient ancestry, and imputation of human leukocyte antigen (HLA) types. Genetic data were processed under a privacy-preserving framework using homomorphic encryption, and clinical reports describing potentially actionable results were delivered to health-care providers. RESULTS A total of 230 patients were included in the study. We demonstrated the feasibility of encrypting a large number of genetic markers, inferring patient ancestry, computing monogenic and polygenic trait risks, and reporting results under privacy-preserving conditions. The average execution time of a multimarker test on encrypted data was 865 ms on a standard computer. The proportion of tests returning potentially actionable genetic results ranged from 0 to 54%. CONCLUSIONS The model of implementation presented herein informs on strategies to deliver genomic test results for clinical care. Data encryption to ensure privacy helps to build patient trust, a key requirement on the road to genomic-based medicine.Genet Med advance online publication 14 January 2016Genetics in Medicine (2016); doi:10.1038/gim.2015.167.

Transition from adolescence to adulthood in congenital heart disease - Many roads lead to Rome

More than 90% of children born with heart defects reach adulthood. They continue to require specialized medical care. In most countries, their care has to be transferred from the pediatric care environment to specialized adult clinics. This transfer of care usually occurs at a time when adolescents become young adults. Supporting adolescents and emerging adults with congenital heart disease through transition has been recognized as an important task of their treating teams in recent years. An environment where adolescents feel welcome and where education and patient participation are fostered is crucial. For an optimal transition process, patients, their families and all health care providers need to be involved. Different models for transition programs have emerged, depending on local policies and resources. The authors offer insight into established transition programs in Bern and Zurich, Switzerland. Advantages and challenges of different models of care and transition programs are presented.

Summary of European Association of Urology (EAU) Guidelines on Neuro-Urology

CONTEXT Most patients with neuro-urological disorders require life-long medical care. The European Association of Urology (EAU) regularly updates guidelines for the diagnosis and treatment of these patients. OBJECTIVE To provide a summary of the 2015 updated EAU Guidelines on Neuro-Urology. EVIDENCE ACQUISITION Structured literature searches in several databases were carried out to update the 2014 guidelines. Levels of evidence and grades of recommendation were assigned where possible. EVIDENCE SYNTHESIS Neurological disorders often cause urinary tract, sexual, and bowel dysfunction. Most neuro-urological patients need life-long care for optimal life expectancy and quality of life. Timely diagnosis and treatment are essential to prevent upper and lower urinary tract deterioration. Clinical assessment should be comprehensive and usually includes a urodynamic investigation. The neuro-urological management must be tailored to the needs of the individual patient and may require a multidisciplinary approach. Sexuality and fertility issues should not be ignored. Numerous conservative and noninvasive possibilities of management are available and should be considered before a surgical approach is chosen. Neuro-urological patients require life-long follow-up and particular attention has to be paid to this aspect of management. CONCLUSIONS The current EAU Guidelines on Neuro-Urology provide an up-to-date overview of the available evidence for adequate diagnosis, treatment, and follow-up of neuro-urological patients. PATIENT SUMMARY Patients with a neurological disorder often suffer from urinary tract, sexual, and bowel dysfunction and life-long care is usually necessary. The update of the EAU Guidelines on Neuro-Urology, summarized in this paper, enables caregivers to provide optimal support to neuro-urological patients. Conservative, noninvasive, or minimally invasive approaches are often possible.

The effect of alcohol consumption on mortality among idiosyncratic drug induced liver injury (IDILI) patients

Severe liver injury (SLI) due to drugs is a frequent cause of catastrophic illness and hospitalization. Due to significant morbidity, mortality, and excess medical care costs, this poses a challenge as a public health problem. The role of associated risk factors like alcohol consumption in contributing to the high mortality remains to be studied. This study was conducted to assess the impact of alcohol use on mortality in IDILI patients, while adjusting for age, gender, race/ethnicity, and education level. The data from this study indicate only a small excess risk of death among IDILI patients using alcohol, but the difference was not statistically significant. The major contribution of this study to the field of public health is that it excludes a large hazard of alcohol consumption on the mortality among idiosyncratic drug induced liver injury (IDILI) patients. ^

Barriers to Timely Screening Colonoscopy

Objective: Colorectal cancer (CRC) can be largely prevented or effectively treated in its early stages, yet disparities exist in timely screening. The aim of this study was to explore the disparities in CRC screening on the basis of health insurance status including private, Medicare, Medicaid, and State Administered General Assistance (SAGA). Methods: A retrospective chart review for the period January 2000 to May 2007 (95 records) was conducted at two clinic sites; a private clinic and a university hospital clinic. All individuals at these sites who met study criteria (>50 years old with screening colonoscopy) were included. Age, gender, date of first clinic visit when screening referral was made, and date of completed procedure (screening colonoscopy) were recorded. Groups were dichotomized between individuals with private health insurance and individuals with public health insurance. Individuals with any history of CRC, known pre-cancerous conditions as well as family history of CRC requiring frequent colonoscopy were excluded from the study. Linear model analysis was performed to compare the average waiting time to receiving screening colonoscopy between the groups. T-test was performed to analyze age or gender related differences between the two groups as well as within each group. Results: The average waiting time (33 days) for screening colonoscopy in privately insured individuals was significantly lower than publicly insured individuals (200 days). The time difference between the first clinic visit and the procedure was statistically significant (p < 0.0001) between the two groups. There was no statistical difference (p=0.089) in gender between these groups (public vs. private). There were also no statistically significant gender or age related differences found within each group. Conclusions: Disparities exist in timely screening for CRC and one of the barriers leading to delayed CRC screening includes health insurance status of an individual. Even within the insured group, type of insurance plays major role. There is a negative correlation between public health insurance status and timely screening. Differences in access to medical care and delivery of care experienced by patients who are publicly insured through Medicaid, Medicare, and SAGA, suggests that the State of Connecticut needs to implement changes in health care policies that would provide timely screening colonoscopy. It is evident that health insurance coverage facilitates timely access to healthcare. Therefore, there is a need for increased efforts in advocacy for policy, payment and physician participation in public insurance programs. A state-wide comprehensive program involving multiple components targeting different levels of change such as provider, patients and the community should help reduce some of the observed causes of healthcare disparities based on the insurance status.

Everyone is; should healthcare? Outsourcing: Issues in strategic planning, organizational culture, and organizational ethics

Expenditures for personal health services in the United States have doubled over the last decade. They continue to outpace the growth rate of the gross national product. Costs for medical care have steadily increased at an annual rate well above the rate of inflation and have gradually outstripped payers' ability to meet their premiums. This limitation of resources justifies the ongoing healthcare reform strategies to maximize utilization and minimize costs. The majority of the cost-containment effort has focused on hospitals, as they account for about 40 percent of total health expenditures. Although good patient outcomes have long been identified as healthcare's central concern, continuing cost pressures from both regulatory reforms and the restructuring of healthcare financing have recently made improving fiscal performance an essential goal for healthcare organizations. ^ The search for financial performance, quality improvement, and fiscal accountability has led to outsourcing, which is the hiring of a third party to perform a task previously and traditionally done in-house. The incomparable nature and overwhelming dissimilarities between health and other commodities raise numerous administrative, organizational, policy and ethical issues for administrators who contemplate outsourcing. This evaluation of the outsourcing phenomenon, how it has developed and is currently practiced in healthcare, will explore the reasons that healthcare organizations gravitate toward outsourcing as a strategic management tool to cut costs in an environment of continuing escalating spending. ^ This dissertation has four major findings. First, it suggests that U.S. hospitals in FY2000 spent an estimated $61 billion in outsourcing. Second, it finds that the proportion of healthcare outsourcing highly correlates with several types of hospital controlling authorities and specialties. Third, it argues that healthcare outsourcing has implications in strategic organizational issues, professionalism, and organizational ethics that warrant further public policy discussions before expanding its limited use beyond hospital “hotel functions” and back office business processes. Finally, it devises an outsourcing suitability scale that organizations can utilize to ensure the most strategic option for outsourcing and concludes with some public policy implications and recommendations for its limited use. ^

Physician and patient determinants of the treatment of sleep difficulties in U.S. outpatient settings

The prevalence of sleep difficulties among the patients seen in the primary care settings is about 30%. This problem increases with age and is more common among females than males. Variations are noticed in prescription choices for different patients with sleep difficulties. Many factors affect a physician's prescription decision while chosen from a wide array of available medications. Both pharmacological and behavioral therapies are available for the treatment of sleep difficulties. It is important to know the impact of use of different types of prescriptions on health outcomes related to sleep difficulties. Thus the knowledge of prescription patterns among different types of patients (e.g. age, gender, race, insurance type etc.) becomes important for determining a clinical guideline. This study is designed to assist in evidence-based policymaking on understanding the variations in physician prescriptions for sleep difficulties and reasons for such variations. ^ A modified version of the model suggested by Eisenberg was used as a theoretical framework for this study to predict the factors influencing treatment of sleep difficulties. Multivariate logistic regression methods were used to analyze the 1996–2001 National Ambulatory Medical Care Survey data. ^ This study found that increased age, female gender, white race, established patients, and mental comorbidity were associated with significantly increased likelihood for prescription of some type of therapy for sleep difficulties in US outpatient settings. Patients with private insurance were associated with lower likelihood of receipt of many therapies. Psychiatrists were more likely to prescribe some kind of treatment as well as more expensive therapies for sleep difficulty as compared to other physician specialties. HMO enrolled patient visits were more likely to be associated with receipt of behavioral therapy. This study also found that 32% of patients with sleep difficulties received no type of therapy during their visits. Only 5% of the patients received behavioral therapy only. Almost three-quarters of the patients receiving some kind of medication prescription were prescribed benzodiazepines. The study results also suggest a need for wider coverage of behavioral therapy by payers in US outpatient settings. ^

Assessing the need and options available for trauma physician funding in Texas

Efforts have been made to provide supplemental funding to emergency departments to offset the costs of uncompensated medical care. But a problem exists within the trauma system in Texas that has largely been overlooked by the state. This project will focus on the lack of funding available to physicians and on-call specialists who contract with hospitals to provide emergency care. ^ A lack of funding and reimbursement for emergency care is directly influencing the number of medical specialists willing to provide emergency treatment in hospitals on a contractual basis. A shortage of emergency physicians has an impact on the public health of all Texans who may need trauma care in a hospital. Specifically, a shortage of emergency physicians can lead to a complete denial of specialty emergency health care, a delay in patient treatment, and increased ambulance diversions. Quality and access barriers to emergency services undoubtedly threaten the stability of the trauma care system in Texas and the health status of its citizens. ^ In 2003, Texas took a significant step towards addressing the issue of uncompensated care provided by the trauma system and passed House Bill 3588, creating the Trauma Facilities and Emergency Medical Services Fund (“the Trauma Fund”). However, the primary shortfall to this legislation is that the Trauma Fund is only available to emergency medical service providers and hospitals. The Trauma Fund does little to help offset the cost incurred by contracting physicians and on-call specialists who provide emergency services to the uninsured. ^ This paper addresses how funding shortages for emergency department physicians negatively impact the trauma care system in Texas and the policy options available to create physician funding to offset the cost of uncompensated trauma care. Ultimately this paper concludes that although creating a new funding stream similar to the actions taken in other states would be a dramatic step towards addressing the problem, the political process in Texas may slow implementation of this option. Consequently, modifying existing legislation, although the weaker of the options, may be more attractive to those looking for immediate action. ^

Health education intervention to reduce risk of infectious disease transmission among community health workers and their clients

Indigent and congregate-living populations have high susceptibilities for disease and pose a higher risk for disease transmission to family, friends and to persons providing services to these populations. The adoption of basic infection control, personal hygiene, safe food handling and simple engineering practices will reduce the risk of infectious disease transmission to, from and among indigent and congregate-living populations. ^ The provision of social services, health promotion activities and other support services to indigent and congregate-living populations is an important aspect of many public health-related governmental, community-based and other medical care provider agencies. ^ In the interest of protecting the health of indigent and congregate-living populations, of personnel from organizations providing services to these populations and of the general community, an educational intervention is warranted to prevent the spread of blood-borne, air-borne, food-borne and close contact-borne infectious diseases. ^ An educational presentation was provided to staff from a community-based organization specializing in providing housing, health education, foodstuffs and meals and support services to disabled, low-income, homeless and HIV-infected individuals. The educational presentation delivered general best practices and standard guidelines. A pre and post test were administered to determine and measure knowledge pertinent to controlling the spread of infectious diseases between and among homeless shelter-living clients and between clients and the organization's staff. ^ Comparing pre-test and post-test results revealed areas of knowledge currently held by staff and other areas that staff would benefit from additional educational seminars and training. ^

Factors associated with mammography utilization in Sao Paulo and Mexico city elderly females

Introduction. Breast cancer has the highest incidence and mortality rates of all cancers in Sao Paulo and Mexico City women with rates expected to rise due to increasing elderly populations. While mammograms could reduce the breast cancer burden, little information exists about screening behavior factors in these areas. The primary objective of this study is testing the association of socio-demographic, geographic, and health access/health status variables on mammogram screenings in elderly females in both cities. Studying the regions' healthcare systems and their screening impact is the ancillary objective. ^ Methods. Accounting for the complex sample design (weights, stratification, and clusters) of the 1999-2000 SABE study, analysis of mammogram utilization in the past two years was performed. The sample consisted of 1239 women from Sao Paulo and 1349 women from Mexico City. ^ Results. Having private insurance in Sao Paulo (OR = 5.86) and Mexico City (OR = 4.09) increased the chance of having a mammogram in the targeted women. In both cities, women with higher levels of education had higher likelihoods of screening (Sao Paulo OR = 4.56 and Mexico City OR = 3.04). Age, regular medical care, and health status were significant in Sao Paulo; however, the factors showed no significance in Mexico City. ^ Discussion. Mammogram utilization can reduce mortality from breast cancer, and understanding screening factors is crucial to screening adherence. Addressing key variables may lead to increased screening and decreased breast cancer mortality in elderly women in Sao Paulo, Mexico City, and similar regions. ^

Differences in health status of HIV infected children cared for by parents as compared to those cared for by grandparents

Purpose. The purpose of the study was to use measures of an HIV positive child's health to examine whether or not there is a difference in their health status according to caretaker and household economic status. ^ Study design. This was a case comparison study between HIV infected children living with parents and those living with grandparents. ^ Study setting. The study was conducted at the Pediatric Infectious Disease Clinic (PIDC) in Mulago, Kampala, Uganda. ^ Participants. 369 HIV-infected children aged seven months to 15 years attending the PIDC between June 13th and August 15th 2007 as well as their caretakers. ^ Method. Patients were recruited during their clinic visits after they had seen the health care providers and waited to receive their medication. Methods used included a survey of all the 369 caregiver participants and abstraction of data from the 369 patient charts. ^ Results. There was no significant association between staging and caretaker status (OR: 0.73 95%CI 0.44–1.21 p=0.09). Children taken care of by grandparents were more likely to have low height for age z-scores and higher weight for height z-scores (OR: 0.32, 95%CI: 0.14–0.74, p = 0.005). There was no difference is social support seeking behavior between parents and grandparents. ^ Conclusion. There was no statistically significant association observed between caretaker status and presenting in advanced stages. This implies that the stage at which HIV-infected children present for care is not determined by the type of caretaker. Caretakers for HIV-infected children need a lot of support beyond medical care. ^

Emerging arboviruses in Harris County, Texas

Harris County, which includes Houston, Texas, is an endemic and epidemic area for two viruses transmitted by arthropods (arboviruses). These viruses are maintained in cycles involving mosquitoes and wild birds, and transmission to humans is accidental. The majority of human infections is asymptomatic or may result in a flu-like syndrome. However, some infections can result in meningitis or encephalitis. These neuroinvasive infections may cause death, and those who survive may experience serious neurological complications requiring costly and lengthy medical care. The most important arboviruses in terms of morbidity are St. Louis encephalitis (SLEV) and West Nile (WNV) viruses. In fact, Harris County reports more SLEV encephalitis cases than any other county in the U.S. Most arboviral human cases occur from July through September, when mosquitoes are most active. Those at risk for encephalitis and death are the elderly and those with a history of hypertension or immunosuppresion. There is no specific treatment and no human vaccines are commercially available in the U.S. The approach for control of arboviruses in Harris County during epidemics is multidisciplinary and executed by several agencies. It includes surveillance, vector control, and educational messages for the population. Prevention of outbreaks consists of elimination of the vector and its breeding grounds, and practicing personal protective measures to prevent exposure to mosquitoes. ^ Current findings indicate that mosquito-borne viruses other than SLEV and WNV could pose an additional threat for the population. Eastern equine encephalitis virus (EEEV) activity has been detected in dogs and sentinel chickens in Houston and surrounding areas. Several serotypes of dengue virus have caused recent outbreaks in south Texas, and some locally-acquired cases have been detected in Houston. Since the clinical presentation of all arboviruses that cause encephalitis is very similar, and current surveillance is focused on detecting SLEV and WNV, there is a possibility that other arboviruses could be present in the area but are not being detected. Additionally, Harris County's ample annual rainfall and flooding problems, warm weather, multiple mosquito species, local and migrating birds that are susceptible to arboviral infection, and a constant flow of goods and travelers from many parts of the world could favor the emergence or re-emergence of other arboviruses. ^ The aims of this project were to determine if other arboviruses were circulating in the county, to assess the knowledge and attitudes about mosquito-borne viruses in a sample of the population, and to conduct an analysis of the initial WNV epidemic in Harris County. Through the retrospective analysis of clinical specimens collected during the 2002-2005 epidemic seasons, serologic evidence of dengue infection was detected suggesting the possibility that this virus may be co-circulating with SLEV and WNV. A cross-sectional survey revealed high awareness about arboviruses but not a consistent use of protective measures to avoid mosquitoes. The third component for this project included a retrospective review and geographical analysis of the 2002 WNV epidemic. ^ Overall, this study documented valuable information about the dengue virus, a potentially emerging arbovirus in Texas, revealed the need for more educational preventative programs, reinforced the value of mosquito and avian surveillance, and indicated the importance of continuing to investigate the factors that contribute to the development of outbreaks. ^

Performance in healthcare organizations: The quality dimension

In the context of a healthcare organization, such as a hospital that provides medical care to its community, performance cannot be measured without special attention to quality. Indeed, quality is as important as finance not only in measuring performance for the organization, but also in securing the organization's viability and competitiveness in the long run.^ Yet quality today is not adequately understood and managed. An inductive framework for integrating finance and quality for purposes of organizational performance measurement as well as strategic planning is proposed in this dissertation. Future areas of research are discussed.^

Foodborne illness - An age old problem requiring contemporary solutions

Foodborne illness has always been with us, and food safety is an increasingly important public health issue affecting populations worldwide. In the United States of America, foodborne illness strikes millions of people and kills thousands annually, costing our economy billions of dollars in medical care expense and lost productivity. The nature of food and foodborne illness has changed dramatically in the last century. The regulatory systems have evolved to better assure a safe food supply. The food production industry has invested heavily to meet regulatory requirement and to improve the safety of their products. Educational efforts have increased public awareness of safe food handling practices, empowering consumers to fulfill their food safety role. Despite the advances made, none of the Healthy People 2010 targets for reduction of foodborne pathogens has been reached. There is no single solution to eliminating pathogen contamination from all classes of food products. However, irradiation seems especially suited for certain higher-risk foods such as meat and poultry and its use should advance the goal of reducing foodborne illness by minimizing the presence of pathogenic organisms in the food supply. This technology has been studied extensively for over 50 years. The Food and Drug Administration has determined that food irradiation is safe for use as approved by the Agency. It is time to take action to educate consumers about the benefits of food irradiation. Consumer demand will compel industry to meet demand by investing in facilities and processes to assure a consistent supply of irradiated food products. ^

A systematic review of literature to compare the fertility desires among HIV positive women and cancer survivors

Background. Decision-making on reproductive issues is influenced by an interplay of individual, familial, medical, religious and socio-cultural factors. Women with chronic medical illnesses such an HIV infection and cancers are often fraught with decisional conflicts about child-bearing. With increase in the incidence of these illnesses as well as improvement in survival rates, there is a need to pay due attention to the issue of reproductive decision-making. Examining the prevalence and determinants of fertility desires in the two groups in a comparative manner would help bring to light perception of the medical community and the society in general on the two illnesses and the issue of motherhood. ^ Methods. Systematic literature search was undertaken using databases such as MEDLINE (PubMED), MEDLINE (Ovid), PsycInfo and Web of Science. Articles published in English and English language abstracts for foreign articles were included. Studies that explore ‘fertility desires’ as the outcome variable were included. Quantitative studies which have assessed the prevalence of fertility desires as well as qualitative studies which have provided a descriptive understanding of factors governing reproductive desires were included in the review. ^ Results. A total of 34 articles (29 studies examining HIV and 5 studies examining cancer in relation to fertility desires). Variables such as age, stage of illness, support of spouse and family, perception of the medical community and one’s own view of motherhood were key determinants among both groups. ^ Conclusion. There is a need for uniform, systematic research in this field. It is important that health care workers acknowledge these decisional conflicts, include them as part of the medical care of these patients and provide guidance with the right balance of information, practicality and compassion.^