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Public Health Action Mar 2020Finding and treating all tuberculosis (TB) patients is crucial for ending TB. We investigated whether rapid diagnostic turnaround time (TAT) and patient tracking could...
Finding and treating all tuberculosis (TB) patients is crucial for ending TB. We investigated whether rapid diagnostic turnaround time (TAT) and patient tracking could increase TB treatment initiation in Maputo, Mozambique. Among 3329 TB patients newly diagnosed by the University Eduardo Mondlane-Anti-Persoonsmijnen Ontmijnende Product Ontwikkeling/Anti-Personnel Landmines Detection Product Development (APOPO) Laboratory between 2013 and 2018, on average 61% were verifiably linked to care. This proportion increased from 54% (first half 2013) to 79% (second half 2018) after introducing a 24-hour TAT in 2015 and patient tracking conducted by a community-based partner, Associação Kenguelekezé, in 2017. Rapid, well-connected TB diagnostic services can reduce pre-treatment loss to follow-up and support the joint initiative of WHO, Stop TB and Global Fund to 'FIND.TREAT.ALL.#EndTB'.
PubMed: 32368516
DOI: 10.5588/pha.19.0037 -
BMJ Open Dec 2021Waiting times in the UK for an autism diagnostic assessment have increased rapidly in the last 5 years. This review explored research (including 'grey' literature) to... (Review)
Review
OBJECTIVES
Waiting times in the UK for an autism diagnostic assessment have increased rapidly in the last 5 years. This review explored research (including 'grey' literature) to uncover the current evidence base about autism diagnostic pathways and what works best, for whom and in what circumstances, to deliver high quality and timely diagnosis.
DESIGN
We performed a Rapid Realist Review consistent with recognised standards for realist syntheses. We collected 129 grey literature and policy/guidelines and 220 articles from seven databases (January 2011-December 2019). We developed programme theories of how, why and in what contexts an intervention worked, based on cross comparison and synthesis of evidence. The focus was on identifying factors that contributed to a clearly defined intervention (the diagnostic pathway), associated with specific outcomes (high quality and timely), within specific parameters (Autism diagnostic services in Paediatric and Child & Adolescent Mental Health services in the UK). Our Expert Stakeholder Group, including representatives from local parent forums, national advocacy groups and clinicians, was integral to the process.
RESULTS
Based on 45 relevant articles, we identified 7 programme theories that were integral to the process of diagnostic service delivery. Four were related to the clinical pathway: initial recognition of possible autism; referral and triaging; diagnostic model; and providing feedback to parents. Three programme theories were pertinent to all stages of the referral and diagnostic process: working in partnership with families; interagency working; and training, service evaluation and development.
CONCLUSIONS
This theory informed review of childhood autism diagnostic pathways identified important aspects that may contribute to efficient, high quality and family-friendly service delivery. The programme theories will be further tested through a national survey of current practice and in-depth longitudinal case studies of exemplar services.
TRIAL REGISTRATION NUMBER
NCT04422483.
Topics: Adolescent; Autistic Disorder; Child; Humans; Parents; Referral and Consultation
PubMed: 34907053
DOI: 10.1136/bmjopen-2021-051241 -
JAMA Network Open Aug 2022Delayed engagement in tuberculosis (TB) services is associated with ongoing transmission and poor clinical outcomes.
IMPORTANCE
Delayed engagement in tuberculosis (TB) services is associated with ongoing transmission and poor clinical outcomes.
OBJECTIVE
To assess whether patients with TB have differential preferences for strategies to improve the public health reach of TB diagnostic services.
DESIGN, SETTING, AND PARTICIPANTS
A cross-sectional study was undertaken in which a discrete choice experiment (DCE) was administered between September 18, 2019, and January 17, 2020, to 401 adults (>18 years of age) with microbiologically confirmed TB in Lusaka, Zambia. The DCE had 7 attributes with 2 to 3 levels per attribute related to TB service enhancements. Latent class analysis was used to identify segments of participants with unique preferences. Multiscenario simulations were used to estimate shares of preferences for different TB service improvement strategies.
MAIN OUTCOMES AND MEASURES
The main outcomes were patient preference archetypes and estimated shares of preferences for different strategies to improve TB diagnostic services. Collected data were analyzed between January 3, 2022, to July 2, 2022.
RESULTS
Among 326 adults with TB (median [IQR] age, 34 [27-42] years; 217 [66.8%] male; 158 [48.8%] HIV positive), 3 groups with distinct preferences for TB service improvements were identified. Group 1 (192 participants [58.9%]) preferred a facility that offered same-day TB test results, shorter wait times, and financial incentives for testing. Group 2 (83 participants [25.4%]) preferred a facility that provided same-day TB results, had greater privacy, and was closer to home. Group 3 (51 participants [15.6%]) had no strong preferences for service improvements and had negative preferences for receiving telephone-based TB test results. Groups 1 and 2 were more likely to report at least a 4-week delay in seeking health care for their current TB episode compared with group 3 (29 [51.3%] in group 1, 95 [35.8%] in group 2, and 10 [19.6%] in group 3; P < .001). Strategies to improve TB diagnostic services most preferred by all participants were same-day TB test results alone (shares of preference, 69.9%) and combined with a small financial testing incentive (shares of preference, 79.3%), shortened wait times (shares of preference, 76.1%), or greater privacy (shares of preference, 75.0%). However, the most preferred service improvement strategies differed substantially by group.
CONCLUSIONS AND RELEVANCE
In this study, patients with TB had heterogenous preferences for TB diagnostic service improvements associated with differential health care-seeking behavior. Tailored strategies that incorporate features most valued by persons with undiagnosed TB, including same-day results, financial incentives, and greater privacy, may optimize reach by overcoming key barriers to timely TB care engagement.
Topics: Adult; Cross-Sectional Studies; Diagnostic Services; Female; Humans; Male; Patient Preference; Tuberculosis; Zambia
PubMed: 36036933
DOI: 10.1001/jamanetworkopen.2022.29091 -
The Journal of Molecular Diagnostics :... Mar 2022Clinical laboratories offering genome sequencing have the opportunity to return pharmacogenomic findings to patients, providing the added benefit of preemptive testing...
Clinical laboratories offering genome sequencing have the opportunity to return pharmacogenomic findings to patients, providing the added benefit of preemptive testing that could help inform medication selection or dosing throughout the lifespan. Implementation of pharmacogenomic reporting must address several challenges, including inherent limitations in short-read genome sequencing methods, gene and variant selection, standardization of genotype and phenotype nomenclature, and choice of guidelines and drugs to report. An automated pipeline, lmPGX, was developed as an end-to-end solution that produces two versions of a pharmacogenomic report, presenting either Clinical Pharmacogenetics Implementation Consortium or US Food and Drug Administration guidelines for 12 genes. The pipeline was validated for performance using reference samples and pharmacogenetic data from the Genetic Testing Reference Materials Coordination Program. To determine performance and limitations, lmPGX was compared with three additional publicly available pharmacogenomic pipelines. The lmPGX pipeline offers clinical laboratories an opportunity for seamless integration of pharmacogenomic results with genome reporting.
Topics: Genetic Testing; Genotype; Humans; Pharmacogenetics; Pharmacogenomic Testing; Phenotype
PubMed: 35041930
DOI: 10.1016/j.jmoldx.2021.12.001 -
MedRxiv : the Preprint Server For... Sep 2023The objective of this study was to map place of cancer diagnosis in relation to Human Immunodeficiency Virus (HIV) care centre among people with HIV (PWH) within South...
OBJECTIVE
The objective of this study was to map place of cancer diagnosis in relation to Human Immunodeficiency Virus (HIV) care centre among people with HIV (PWH) within South Africa (SA) using national laboratory database.
DESIGN
We linked HIV and cancer laboratory data from 2004-2014 using supervised machine-learning algorithms. We performed a cross-sectional analysis comparing province where individuals accessed their HIV care versus where they had their cancer diagnosis.
SETTING
We used laboratory test records related to HIV diagnostics and care, such as CD4 cell counts and percentages, rapid tests, qualitative Polymerase Chain Reaction (PCR), antibody and antigen tests for HIV data that was documented as HIV positive and laboratory diagnosed cancer records from SA.
STUDY POPULATION
Our study population consisted of HIV records from the National Health Laboratory Service (NHLS) that linked to cancer record at the National Cancer Registry (NCR) between 2004- 2014.
PRIMARY AND SECONDARY OUTCOMES
We linked HIV records from NHLS to cancer records at NCR in order to study the inherent characteristics of the population with both HIV and cancer.
RESULTS
The study population was 68,284 individuals with cancer and documented HIV related laboratory test. The median age at cancer diagnosis was 40 [IQR, 33-48] years for the study population with most cancers in PWH diagnosed in females 70.9% [n=46,313]. Of all the PWH and cancer, 25% (n=16,364 p < 0.001) sought treatment outside their province of residence with 60.7% (n=10,235) travelling to Gauteng. KZN had 46.6% (n=4,107) of its PWH getting cancer diagnosis in Gauteng. Western Cape had 95% (n=6,200) of PWH getting cancer diagnosis within the province.
CONCLUSIONS
Our results showed health systems inequalities across provinces in South Africa with respect to cancer diagnosis. KZN for example had nearly half of the PWH getting cancer diagnosis outside the province while Western Cape is able to offer cancer diagnostic services to most of the PWH in the province. Gauteng is getting over burdened with referral for cancer diagnosis from other provinces. More effort is required to ensure equitable access to cancer diagnostic services within the country.
PubMed: 37745395
DOI: 10.1101/2023.09.10.23295338 -
Current Opinion in Pediatrics Dec 2016Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with... (Review)
Review
PURPOSE OF REVIEW
Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with increased precision and lower cost. These powerful technologies raise a number of ethical issues in pediatrics, primarily because of the frequent lack of clinical utility of genetic information, the generation of secondary results and questions over the proper scope of parental authority for testing.
RECENT FINDINGS
Several professional organizations in the fields of genetics and pediatrics have published new guidance on the ethical, legal, and policy issues relevant to genetic testing in children. The roles of predictive testing for adult-onset conditions, the management of secondary findings and the role of informed consent for newborn screening remain controversial. However, research and experience are not demonstrating serious adverse psychosocial impacts from genetic testing and screening in children. The use of these technologies is expanding with the notion that the personal utility of test results, rather than clinical utility, may be sufficient to justify testing.
SUMMARY
The use of microarray and genome sequencing technologies is expanding in the care of children. More deference to parental decision-making is evolving in contexts wherein information and counseling can be made readily available.
Topics: Child; Genetic Testing; Humans; Infant, Newborn; Neonatal Screening; Parental Consent
PubMed: 27606958
DOI: 10.1097/MOP.0000000000000418 -
Genome Medicine Sep 2023Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic...
BACKGROUND
Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer.
METHODS
This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken.
RESULTS
Pathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing.
CONCLUSIONS
These findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability.
Topics: Humans; Prospective Studies; Neoplastic Syndromes, Hereditary; Oncogenes; Genetic Testing; Germ Cells
PubMed: 37723522
DOI: 10.1186/s13073-023-01223-1 -
Cleveland Clinic Journal of Medicine Jul 2017Diagnostic algorithms for venous thromboembolism exist, but most do not provide detailed guidance as to which patients, if any, may benefit from screening for... (Review)
Review
Diagnostic algorithms for venous thromboembolism exist, but most do not provide detailed guidance as to which patients, if any, may benefit from screening for thrombophilia. This article provides an overview of the optimized diagnosis of venous thromboembolism, with a focus on the appropriate use of thrombophilia screening.
Topics: Algorithms; Humans; Mass Screening; Patient Selection; Quality Improvement; Thrombophilia; Venous Thromboembolism
PubMed: 28696195
DOI: 10.3949/ccjm.84a.16049 -
Tidsskrift For Den Norske Laegeforening... Feb 2017Transport to a radiology department can be a strain on nursing home patients, leading to less use of diagnostic imaging. The purpose of this study was to examine the use...
BACKGROUND
Transport to a radiology department can be a strain on nursing home patients, leading to less use of diagnostic imaging. The purpose of this study was to examine the use and benefit of a mobile X-ray service that enables imaging at nursing homes.
MATERIAL AND METHOD
In connection with 300 of a total of 326 referrals to a mobile X-ray service in Vestfold County in the period March to September 2015, 66 doctors at 33 nursing homes completed a questionnaire on the options patients would have had in the absence of the mobile service. A hundred of these referrals were followed up one to two weeks later with a further questionnaire on the implications of the X-ray scan for diagnosis, treatment and nursing. Eighty-seven questionnaires were completed.
RESULTS
In 219 cases (73 %), the patients would have been sent to a hospital radiology department if the mobile X-ray service had not been available. In 60 cases (20 %) the patients would not have had an X-ray examination. In the follow-up, doctors answered that the X-rays had yielded new diagnostic information in 81 cases (95 %), that 71 (83 %) of the X-ray results had had implications for further treatment and that 29 (34 %) had helped patients avoid hospitalisation. In 77 cases (89 %), the X-rays enabled important information to be given to patients and their families.
CONCLUSION
A mobile X-ray service makes it possible to avoid transports that place a strain on patients and to provide necessary diagnoses for patients who would not otherwise have been examined.
Topics: Humans; Mobile Health Units; Nursing Homes; Patient Admission; Patient Transfer; Physicians; Radiography; Surveys and Questionnaires; Transportation of Patients
PubMed: 28181756
DOI: 10.4045/tidsskr.16.0035