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PubMed2025

PathoSeq-QC: a decision support bioinformatics workflow for robust genomic surveillance.

MOTIVATION: Recommendations on the use of genomics for pathogens surveillance are evidence that high-throughput genomic sequencing plays a key role to fight global health threats. Coupled with bioinformatics and other data types (e.g., epidemiological information), genomics is used to obtain knowledge on health pathogenic threats and insights on their evolution, to monitor pathogens spread, and to evaluate the effectiveness of countermeasures. From a decision-making policy perspective, it is essential to ensure the entire process's quality before relying on analysis results as evidence. Available workflows usually offer quality assessment tools that are primarily focused on the quality of raw NGS reads but often struggle to keep pace with new technologies and threats, and fail to provide a robust consensus on results, necessitating manual evaluation of multiple tool outputs. RESULTS: We present PathoSeq-QC, a bioinformatics decision support workflow developed to improve the trustworthiness of genomic surveillance analyses and conclusions. Designed for SARS-CoV-2, it is suitable for any viral threat. In the specific case of SARS-CoV-2, PathoSeq-QC: (i) evaluates the quality of the raw data; (ii) assesses whether the analysed sample is composed by single or multiple lineages; (iii) produces robust variant calling results via multi-tool comparison; (iv) reports whether the produced data are in support of a recombinant virus, a novel or an already known lineage. The tool is modular, which will allow easy functionalities extension. AVAILABILITY AND IMPLEMENTATION: PathoSeq-QC is a command-line tool written in Python and R. The code is available at https://code.europa.eu/dighealth/pathoseq-qc.

Genomics↗

PubMed2026

SeqUIaSCOPE: multi-omics data integration platform for single-patient clinical oncology pathway exploration.

SUMMARY: SeqUIaSCOPE is an open-source platform designed for routine clinical oncology diagnostics through case-centric integration and visualization of genomic variants, fusion events, and expression profiles. The platform combines molecular-level validation via embedded genome browsing with systems-level interpretation through dynamic pathway visualization, enabling geneticists to assess how alterations converge across biological networks. Flexible reporting with customizable templates accommodates diverse institutional requirements, while secure cluster-based or local deployment ensures compliance with data protection policies, making advanced multi-omics diagnostics accessible to academic and clinical institutions. AVAILABILITY AND IMPLEMENTATION: SeqUIaSCOPE is freely available on GitHub at https://github.com/BioIT-CEITEC/sequiascope under the MIT license and archived at Zenodo (https://zenodo.org/records/21338445). Due to the sensitive nature of patient data, the repository provides simulated datasets that mimic the structure of real clinical data for testing and exploration. Documentation and a live demo accompany these datasets, allowing users to explore the application without any prior setup. The repository also includes a Helm chart for Kubernetes deployment and Docker containers for local deployment, ensuring compatibility across Linux, macOS, and Windows. No user registration is required, and all data remains on local or institutional infrastructure.

Humans↗

PubMed2001

Prenatal screening and genetics.

Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were more precisely observed.

Amniocentesis↗

PubMed1997

The measure and discuss intervention: a procedure for client empowerment and quality control in residential care homes.

This article presents an intervention that is used to empower clients in residential care homes in the Netherlands. The intervention comprises a standardized survey-feedback procedure in which residents' opinions on life and care in their particular home are gauged, discussed, and reported. The procedure is designed to influence individuals and processes in the institution. It results in a report containing residents' collective opinion and recommendations and a plan for action. This provides residents' committees and management with a basis for policy making and quality control.

Aged↗

PubMed2003

Health-seeking behaviors of elderly Chinese Americans: shifts in expectations.

PURPOSE: This study reported a qualitative analysis of health-seeking behaviors of community-dwelling elderly Chinese Americans on the influences of family network, cultural values, and immigrant experience in their use of health resources. Barriers to health care, pathway of health care, and adaptation of health care by use of self-treatment and Eastern and Western medicines were also examined. DESIGN AND METHODS: The investigators used content analysis to obtain themes and key points of focus group interview data (N = 25) to explore the elderly participants' attitudes, values, and practices in their use of health resources. Survey questionnaires in Chinese were used to compile demographic data. RESULTS: Findings suggested a shift from traditional expectations of filial piety to more dependence on neighbors and friends, and a genuine adaptability to combining Eastern and Western health care modalities. Immigration was not proposed by these Chinese elders as an explanation of shifts in expectations for family support or values. IMPLICATIONS: This study has implications for research, service delivery, and policy making for health care of ethnic elderly persons, particularly in addressing structural and cultural issues in access and compliance.

Aged↗

PubMed2005

Use of complementary medicine in older Americans: results from the Health and Retirement Study.

PURPOSE: The correlates of complementary and alternative medicine (CAM) utilization among elders have not been fully investigated. This study was designed to identify such correlates in a large sample of older adults, thus generating new data relevant to consumer education, medical training, and health practice and policy. DESIGN AND METHODS: A subsample from the 2000 Wave of the Health and Retirement Study (n = 1,099) aged 52 or older were surveyed regarding use of CAM (chiropractic, alternative practitioners, dietary and herbal supplements, and personal practices). RESULTS: Of respondents over 65 years of age, 88% used CAM, with dietary supplements and chiropractic most commonly reported (65% and 46%, respectively). Users of alternate practitioners and dietary supplements reported having more out-of-pocket expenses on health than nonusers of these modalities. Age correlated positively with use of dietary supplements and personal practices and inversely with alternative practitioner use. Men reported less CAM use than women, except for chiropractic and personal practices. Blacks and Hispanics used fewer dietary supplements and less chiropractic, but they reported more personal practices than Whites. Advanced education correlated with fewer chiropractic visits and more dietary and herbal supplement and personal practices use. Higher income, functional impairment, alcohol use, and frequent physician visits correlated with more alternative practitioner use. There was no association between CAM and number of chronic diseases. IMPLICATIONS: The magnitude and patterns of CAM use among elders lend considerable importance to this field in public health policy making and suggest a need for further epidemiological research and ongoing awareness efforts for both patients and providers.

Activities of Daily Living↗

PubMed2002

Mental health recovery paradigm: implications for social work.

Social workers have long been involved in developing, administering, and providing services for people with psychiatric disabilities. Critics of the system, including social workers and mental health consumer-survivor practitioners, have noted that the medical model has been a driving force in policy and services provision. This model is detrimental to consumers' self-efficacy and sense of hope and conflicts with a number of central social work values. The article argues that the values and beliefs of the consumer-survivor recovery movement are closely aligned with those of the profession, and that the movement offers social workers a more promising perspective from which to practice. The primary concepts and values of the evolving recovery paradigm are delineated, and implications for direct practice, administration, policy making, education, and research are discussed.

Adult↗

PubMed2002

Use of home health services covered by new public long-term care insurance in Japan: impact of the presence and kinship of family caregivers.

OBJECTIVE: In April 2000, the system for caring for the elderly in Japan was changed drastically with the launch of new long-term care insurance. Unlike the previous system, the maximum monthly amount of insured services is now decided solely by an applicant's physical condition, regardless of family support. We investigated whether the presence and kinship of a family caregiver still affect service use under the new system. DESIGN: A cross-sectional, mailed, self-administered questionnaire survey and analysis using multiple logistic regression. SETTING: One month after the introduction of long-term care insurance in Japan. PARTICIPANTS: The main family caregivers of 237 applicants for long-term care insurance with a caregiver and 33 applicants without a caregiver, living in the community in one city. OUTCOME MEASURES: The applicants' sex, age, and eligible care level, existence of a family caregiver, family caregiver's sex, age, and kinship, and service use for each service covered by long-term care insurance. RESULTS: Caregiver factors significantly affected use of the main services. The most popular service, nursing-home daycare, was utilized most when a wife was caring for her husband. As the level of care increased, this service was utilized less. Home help, the second most popular service, was most utilized when a wife was caring for her husband or when there was no caregiver. CONCLUSION: The use of major services may be decided more by the needs of caregivers than by the care level of the applicant. To successfully implement the new system, consideration of the caregiver situation should be included in policy making.

Aged↗

PubMed1993

The common good in a secular society: the relevance of a Roman Catholic notion to the healthcare allocation debate.

This essay analyzes Roman Catholic social teaching on the right to health care and the legitimacy of healthcare rationing. It considers that discussion at two levels: (1) the specific warrants that undergrid key terms; and (2) the accessibility and applicability of those warrants to policy choices in a secular society. The essay concludes with a number of broader reflections meant to reserve an appropriate place for religious voices in the process of policy-making, as distinguished from its justification.

Catholicism↗

PubMed1995

The use of gene tests to detect hereditary predisposition to cancer: economic considerations.

Several mutations recently have been shown to be associated with hereditary nonpolyposis colon cancer (HNPCC) in families displaying unusually strong predisposition to colorectal cancer. Laboratory tests to detect such gene mutations soon will be commercially available, raising the possibility for population-wide screening. The purpose of this study was to explore the economic implications of conducting a population-wide screening for HNPCC compared with restricted screening among members of the families at high risk. An exploratory analysis was performed to determine which factors are most important in determining the cost-effectiveness of such a testing program. The base-case analysis focuses on current uncertainty about the population prevalence of the HNPCC genotype and phenotype. The uncertainty with regard to parameters related to the cost-effectiveness of screening and preventive interventions for HNPCC were explored, using additional sensitivity analyses. Cost-effectiveness is achieved for population-wide screening only when assumptions most favorable to that outcome are made regarding the HNPCC prevalence, the cost and effectiveness of screening, and preventive intervention. Information on the population prevalence of HNPCC genotypes and the penetrance of these genotypes is essential for making policy decisions. Additional information is needed regarding the determinants of the cost of genetic testing and counseling, the efficacy of preventive regimens for individuals at high risk, and the accuracy and cost of alternative methods of identifying families at risk.

Adult↗

PubMedDate not supplied

International studies in dementia with particular emphasis on populations of African origin.

Epidemiologic studies on dementia generally have 2 major interacting objectives: descriptive, where rates of dementia and Alzheimer Disease (AD) are calculated for communities and selected populations, and analytic, which attempt to explain the observed phenotypic variations in communities and populations by identifying disease risk factors. The public health benefits derived from descriptive studies are exemplified by the recent published review of the global prevalence of dementia under the auspices of Alzheimer Disease International. This review emphasized the enormous and growing burden associated with dementia particularly for countries in the developing world and outlined strategies to influence policy making, planning, and healthcare allocation. One interesting feature of descriptive studies on dementia is that although the few epidemiologic studies conducted in Africa suggest that rates of dementia and AD are relatively low, rates of AD and dementia have been reported to be relatively high for African Americans. The Indianapolis-Ibadan Dementia Project has reported that the incidence rates for AD and dementia in Yoruba are less than half the incidence rates for AD and dementia in African Americans. Analytic studies are now underway to identify risk factors that may account for these rate differences. The risk factor model being applied, attempts to identify not only putative genetic and environmental factors but also their interactions. So far the major findings have included: apolipoprotein E e4, a major risk factor for AD in most populations, is also a risk factor for AD in African Americans but not for Yoruba; African Americans are at higher risk not only for AD, but also for diseases associated with increased cardiovascular risk such as hypertension, diabetes, and metabolic syndrome; African Americans have higher rates of hypercholesterolemia than Yoruba: there is an interaction between apolipoprotein E e4, cholesterol, and AD risk in both Yoruba and African Americans. We eventually hope to create a risk factor model that will not only account for the dementia rate differences between Yoruba and African Americans, but also help explain dementia rates in other developing and developed countries.

Aged↗

PubMedDate not supplied

The CNS regulatory quagmire--we need clarity about advanced nursing practice.

The current quagmire in the regulation of CNS practice is largely due to confusion about definitional approaches to advanced nursing practice. Establishing clarity about the nursing focused and medical focused definitions of advanced practice can greatly assist in developing and implementing appropriate levels of regulation for the CNS role and scope of practice. It has been my experience that state boards of nursing want to do their very best in helping to protect the public while not creating insurmountable problems that essentially put APRNs such as CNSs out of work and raise restraint of trade issues. Currently, in some states, there is real economic harm being experienced by CNSs because they cannot get jobs as CNSs when they have been practicing within the domains of the RN license for 10 or more years. I believe the inappropriate regulation of CNSs in some states is occurring because CNSs did not have an organization to represent them at national policy tables until 1995. Therefore, we weren't "at the table" in the early development of recognition strategies for APRNs to help state boards and other policy making groups understand how the CNS practice and role is different from other APRN roles. We must help state boards of nursing clarify the level of regulation needed for both the CNS without and the CNS with prescriptive authority. Then we must help them identify and implement reasonable solutions that do not create unnecessary barriers to CNS practice while assuring society's access to the full range of CNS services.

Certification↗

PubMed2000

The impact of Medicare reimbursement changes on home healthcare: a nursing perspective.

This article presents an overview of changes in Medicare's payment system and their effect on home healthcare from a nursing standpoint, and makes policy recommendations for nurses. Home health care utilization, the Balanced Budget Act 1997, the effect of changes in Medicare reimbursement (on beneficiaries and providers), and transition to the new PPS system are discussed. Suggested strategies agencies can use, and how home care nurses can get involved in policy recommendations are presented.

Community Health Nursing↗

PubMed1989

Youth and America's future: the forgotten half.

The William T. Grant Foundation's Commission on Youth and America's Future was created to review existing research on problems facing young people in America today, and to make policy recommendations based upon the results of that research. The Commission found that fewer economic opportunities are available today, especially to non-college-bound young people, than was the case even a decade ago. This situation has had an adverse effect on the youths themselves, their families, and ultimately, on American society as a whole. Many problem behaviors have their origin in the reduced opportunities which young people face today. The Commission cites a number of programs that show promise to ameliorate behavioral and economic problems of youth, and urges government, business, and other private agencies to join together in implementing and expanding existing programs (such as the Job Training Partnership Program) and in creating new ones (such as the Youth Opportunities Demonstration Act). Society needs to recognize the important role which youth can play as good citizens by providing opportunities for them to give needed services to the community.

Adolescent↗

PubMed2002

The California experiment: alternatives for minimum nurse-to-patient ratios.

In making policy, it is ideal to study a problem, test solutions, and then implement the best solution. In California there is legislation regarding nurse staffing that requires implementation of a solution before the problem has been accurately stated and before alternative solutions have been tested. Assembly Bill 394 directs the California Department of Health Services to establish "minimum, specific, and numerical licensed nurse-to-patient ratios by licensed nurse classification and by hospital unit" and have these ratios in place January 1, 2002. This law is scheduled for implementation before there is specific evidence of optimal staffing levels for various patient populations. The author presents a comprehensive literature review of activities related to nurse staffing in the United States, provides data related to existing patient classification systems in California, and suggests an alternative to staffing ratios to protect consumers.

California↗

PubMed1976

14. The patient classification for long-term care developed by four research groups in the United States.

Delineation of long-term care problems and measurement of the effectiveness of efforts to deal with them requires a reliable method of describing observations made in the field. Recognizing this need, four groups of investigators have collaborated to produce the Patient Classification for Long-Term Care. Criteria for design of the Classification and its uses are described with specific reference to monitoring the quality of care, to policy making for long-term care, to research, and to education and training. Areas requiring further work are adaptation to care in noninstitutional settings and to children with long-term problems, and development of detailed psychosocial descriptors. Practical application of a classification scheme should not, however, wait upon the solution of all existing problems; a built-in mechanism of revision, analogous to that of the ICD, would make it possible to get on with the job of patient care, improving our methods of observation as we go, on the basis of experience.

Activities of Daily Living↗

PubMed1977

Treated adverse effects of drugs in an ambulatory population.

Adverse drug reactions represent an area of concern in the delivery of medical care. Current data available indicating the nature and extent of the problem of adverse drug reactions are recognized as inadequate for policy making. This study contributes new information about the adverse effects of drugs treated in an outpatient population. The findings showed that the adverse effects of oral contraceptives accounted for a large share of medical care contacts, procedures rendered, and estimated dollars expended. The incidence and prevalence rates indicated relatively few persons among the population were treated for adverse effects of drugs. Annual costs to the medical care system of treating adverse drug effects were estimated to be $.83 per person. Additional information is needed about adverse drug reactions if strategies and approaches to deal with adverse effects of drugs are to be efficient and effective.

Adolescent↗

PubMed1983

Surgical utilization statistics: some methodologic considerations.

This article considers variations in the recording and counting protocols used in the generation of surgical utilization data. A single raw data source was manipulated to reproduce several common protocols to illustrate the statistically significant differences that can result in the volume of surgical utilization considered for both individual procedures and groups of procedures. The results suggest that if recording or counting protocols differ in the samples under consideration, comparison of the statistics and inferences drawn as to utilization therein may be confounded. It is quite possible, therefore, that some of the results of earlier surgical utilization studies may be confounded by such differences in protocols. While there may be valid differences in surgical utilization across different settings, our findings suggest that until methods used in previous work are investigated and reconciled, caution should be exercised in the utilization of this research in public policy making.

Female↗