-
European Journal of Paediatric... Jan 2022To clarify the diagnostic utility and the cost-effectiveness of whole-exome sequencing (WES) as a routine early-diagnostic tool in children with progressive neurological...
OBJECTIVES
To clarify the diagnostic utility and the cost-effectiveness of whole-exome sequencing (WES) as a routine early-diagnostic tool in children with progressive neurological disorders.
METHODS
Patients with infantile-onset severe neurological diseases or childhood-onset progressive neurological disorders were prospectively recruited to this WES study, in the pediatric neurology clinic at Helsinki University Hospital during 2016-2018. A total of 48 patients underwent a singleton WES. A control group of 49 children underwent traditional diagnostic examinations and were retrospectively collected from the hospital records. Their use of health care services, related to the diagnostic process, was gathered. Incremental cost-effectiveness ratio (ICER) per additional diagnosis was calculated from the health care provider perspective. Bootstrapping methods were used to estimate the uncertainty of cost-effectiveness outcomes.
RESULTS
WES provided a better diagnostic yield (38%) than diagnostic pathway that did not prioritize WES in early diagnosis (25%). WES outperformed other diagnostic paths especially when made early, within one year of first admission (44%). Cost-effectiveness in our results are conservative, affected by WES costs during 2016-18.
CONCLUSIONS
WES is an efficient and cost-effective diagnostic tool that should be prioritized in early diagnostic path of children with progressive neurological disorders. The progressively decreasing price of the test improves cost-effectiveness further.
Topics: Child; Cost-Benefit Analysis; Genetic Testing; Humans; Nervous System Diseases; Retrospective Studies; Exome Sequencing
PubMed: 34852981
DOI: 10.1016/j.ejpn.2021.11.006 -
European Radiology Jan 2022During the COVID-19 pandemic, there was a temporary cessation of mammography screening. However, in some facilities, diagnostic breast imaging services continued for...
OBJECTIVE
During the COVID-19 pandemic, there was a temporary cessation of mammography screening. However, in some facilities, diagnostic breast imaging services continued for patients with a high clinical suspicion of breast cancer. The objective of this study was to evaluate changes in the diagnostic interval (DI) of non-screening patients presenting for diagnostic mammography during the first wave of the COVID-19 pandemic.
METHODS
Retrospective chart review was performed on patients presenting for non-screening diagnostic mammography from April 1 to June 30, 2020 (pandemic group) and April 1 to June 30, 2019 (pre-pandemic group). Age, reason for referral, number and type of imaging studies/biopsies necessary for a final diagnosis were recorded. Diagnostic interval (DI) was defined as the number of days from the date of the diagnostic mammogram to the date of the final diagnosis.
RESULTS
Compared to the pre-pandemic group (n = 64), the pandemic group (n = 77) showed a reduction in DI of the entire cohort (pandemic: 1 day; pre-pandemic: 15 days, p < 0.0001) for patients not requiring tissue sampling (pandemic: 1 day; pre-pandemic: 11 days, .p < 0.0001) and those requiring tissue sampling with benign pathology (pandemic 9 days; pre-pandemic, 33 days, p = 0.0002). A higher percentage of patients in the pandemic group had their assessment completed during the initial visit (pandemic: 50.6%; pre-pandemic: 23.4%, p = 0.0009).
CONCLUSION
During the first wave of the COVID-19 pandemic, the DI for patients with non-screening-related diagnostic mammography was significantly shorter, with a higher percentage of patients completing their assessments on the initial visit, compared to one year prior.
KEY POINTS
• Despite reductions in manpower and clinical services, during pandemic times, it is possible to maintain a diagnostic breast imaging service for women at high clinical suspicion for breast cancer. • During pandemic times, breast imaging departments should consider restructuring to a Rapid Diagnostic Unit model with a navigation team that follows patients through the assessment process to a final diagnosis. • Departmental restructuring and patient navigation during pandemic times could either maintain or shorten the diagnostic interval for patients presenting for diagnostic mammography.
Topics: Breast Neoplasms; COVID-19; Early Detection of Cancer; Female; Humans; Mammography; Mass Screening; Pandemics; Retrospective Studies; SARS-CoV-2
PubMed: 34143286
DOI: 10.1007/s00330-021-08117-z -
Journal of Public Health Management and...By providing timely services at all steps along the continuum of the early hearing detection and intervention (EHDI) process, providers may be able to lessen potential...
CONTEXT
By providing timely services at all steps along the continuum of the early hearing detection and intervention (EHDI) process, providers may be able to lessen potential adverse effects of late identification of hearing loss on children's language development.
OBJECTIVE
To examine the timeliness of key events in the EHDI process from birth through diagnosis of hearing loss among different populations.
DESIGN
Retrospective, cross-sectional.
SETTING
Data pooled from 9 states' EHDI information systems were used to determine the extent to which timely screening and diagnosis were achieved by 754 613 infants born in calendar year 2017. Enrollment into early intervention for children diagnosed is not examined here due to incomplete data.
PARTICIPANTS
Nine state EHDI programs were selected to participate in this study for their successful experience in using EHDI-IS to collect detailed child-level data.
MAIN OUTCOME MEASURES
Age of service, rate of service receipt.
RESULTS
Median age of newborn hearing screening was 1 day, and median age of hearing loss diagnosis was 68 days. Early completion of newborn hearing screening was associated with maternal education, maternal race/ethnicity, and admission into a neonatal intensive care unit (NICU). Receiving and completing follow-up diagnostic services were associated with maternal education, maternal race/ethnicity, age of screening, and enrollment into the Women, Infants, and Children program.
CONCLUSIONS
Timely completion of the newborn hearing screening is achieved by most of the population among the participating states. Increased efforts may be considered by state EHDI programs to provide additional follow-up and education to underrepresented racial/ethnic groups, mothers with less education, and NICU infants and their families as these groups appear to be at an increased risk for delayed diagnostic testing for hearing loss.
Topics: Cross-Sectional Studies; Diagnostic Services; Female; Hearing; Humans; Infant; Infant, Newborn; Neonatal Screening; Retrospective Studies
PubMed: 32956290
DOI: 10.1097/PHH.0000000000001232 -
Human Genetics May 2022Genetic carrier screening for reproductive purposes has existed for half a century. It was originally offered to particular ethnic groups with a higher prevalence of... (Review)
Review
Genetic carrier screening for reproductive purposes has existed for half a century. It was originally offered to particular ethnic groups with a higher prevalence of certain severe recessive or X-linked genetic conditions, or (as carrier testing) to those with a family history of a particular genetic condition. Commercial providers are increasingly offering carrier screening on a user-pays basis. Some countries are also trialing or offering public reproductive genetic carrier screening with whole populations, rather than only to those known to have a higher chance of having a child with an inherited genetic condition. Such programs broaden the ethical and practical challenges that arise in clinical carrier testing. In this paper we consider three aspects of selecting genes for population reproductive genetic carrier screening panels that give rise to important ethical considerations: severity, variable penetrance and expressivity, and scalability; we also draw on three exemplar genes to illustrate the ethical issues raised: CFTR, GALT and SERPINA1. We argue that such issues are important to attend to at the point of gene selection for RGCS. These factors warrant a cautious approach to screening panel design, one that takes into account the likely value of the information generated by screening and the feasibility of implementation in large and diverse populations. Given the highly complex and uncertain nature of some genetic variants, careful consideration needs to be given to the balance between delivering potentially burdensome or harmful information, and providing valuable information to inform reproductive decisions.
Topics: Child; Family; Genetic Carrier Screening; Genetic Testing; Humans
PubMed: 34426854
DOI: 10.1007/s00439-021-02341-9 -
BJS Open Jan 2022The National Health Service Abdominal Aortic Aneurysm Screening Programme (NAAASP) was introduced in England in 2009 to offer ultrasound screening to men over... (Review)
Review
INTRODUCTION
The National Health Service Abdominal Aortic Aneurysm Screening Programme (NAAASP) was introduced in England in 2009 to offer ultrasound screening to men over 65 years, in order to reduce aneurysm-related deaths. This study describes the development of a quality assurance (QA) process and conducts an analysis of the first round of QA visit reports. The aim was to identify themes where local providers can target their efforts for improvement.
METHODS
Forty-one providers were assessed over 4 years using a process of QA visits adapted from previously established screening programmes. A mixture of qualitative and quantitative methods was used to analyse the 41 QA reports, which identified a range of recommendations for providers. The data were coded for key words and assigned to themes. The number of recommendations per visit report was compared with experience of the providers and performance against national screening standards.
RESULTS
A total of 773 recommendations were made, with an average of 19 per QA visit. Around one third of the recommendations were based on governance and leadership standards, with 43.0 per cent of those based around commissioning and accountability. A significant relationship was seen between number of infrastructure recommendations and performance against standards.
CONCLUSION
This review of a QA cycle found that sound infrastructure is key to the success of a local provider.
Topics: Aortic Aneurysm, Abdominal; England; Humans; Male; Mass Screening; State Medicine; Ultrasonography
PubMed: 35143623
DOI: 10.1093/bjsopen/zrab148 -
Annales de Biologie Clinique Jun 2020The diagnosis of parasitic and fungal infections, historically based on the detection of these pathogens using direct diagnosis (macro/microscopic examination, culture)... (Review)
Review
The diagnosis of parasitic and fungal infections, historically based on the detection of these pathogens using direct diagnosis (macro/microscopic examination, culture) or serological methods, has considerably evolved in the last decades, especially with the development of molecular approaches and mass spectrometry. These techniques, as well as most analyses of parasitic and fungal serology, are mostly the preserve of Hospital University Centers Parasitology-Mycology laboratories. In 2016, the French association of medical parasitology and mycology teachers and hospital practitioners (Anofel) has provided a Catalogue of rare analyses, regularly updated and freely accessible on the Anofel website (https://anofel.net/). This tool, which hinges on 4 parts (parasitology, parasitic serology, mycology, and fungal serology), aims to provide information on all available analyses, and a list of hospital laboratories able to undertake them. It is complementary to the other reference works that were developed by our association, including the Guide of analyses and methods in parasitology and mycology, published in 2018, and the eANOFEL pictures and videos database, freely accessible online (http://www.eanofel.fr). In this article, we draw-up a state-of-the-art of the most specialized techniques available in the parasitology-mycology laboratories and presented in the Catalogue of rare analyses of the Anofel collegium, and their interest for the diagnosis of these infections.
Topics: Clinical Laboratory Services; Diagnostic Techniques and Procedures; Humans; Laboratories, Hospital; Mycology; Mycoses; Parasitic Diseases; Parasitology
PubMed: 32540816
DOI: 10.1684/abc.2020.1554 -
PloS One 2023Diagnostic network optimization (DNO) is an analytical approach that enables use of available country data to inform evidence-based decision-making to optimize access to...
Optimizing diagnostic networks to increase patient access to TB diagnostic services: Development of the diagnostic network optimization (DNO) approach and learnings from its application in Kenya, India and the Philippines.
Diagnostic network optimization (DNO) is an analytical approach that enables use of available country data to inform evidence-based decision-making to optimize access to diagnostic services. A DNO methodology was developed using available data sources and a commercial supply chain optimization software. In collaboration with Ministries of Health and partners, the approach was applied in Kenya, India and the Philippines to map TB diagnostic networks, identify misalignments, and determine optimal network design to increase patient access to TB diagnostic services and improve device utilization. The DNO analysis was successfully applied to evaluate and inform TB diagnostic services in Kenya, India and the Philippines as part of national strategic planning for TB. The analysis was tailored to each country's specific objectives and allowed evaluation of factors such as the number and placement of different TB diagnostics, design of sample referral networks and integration of early infant diagnosis for HIV at national and sub-national levels and across public and private sectors. Our work demonstrates the value of DNO as an innovative approach to analysing and modelling diagnostic networks, particularly suited for use in low-resource settings, as an open-access approach that can be applied to optimize networks for any disease.
Topics: Humans; Philippines; Kenya; Referral and Consultation; Diagnostic Services; India
PubMed: 38033120
DOI: 10.1371/journal.pone.0279677 -
European Journal of Human Genetics :... Dec 2022Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on... (Review)
Review
Direct-to-consumer genetic testing (DTC-GT) is becoming increasingly widespread. The aim of this research was to systematically review the literature published on healthcare professionals' knowledge and views about DTC-GT, as an update to a 2012 systematic review. The secondary aim was to assess the knowledge and views of healthcare professionals on the ethical and legal issues pertaining to DTC-GT. A systematic search was performed to identify all relevant studies that have been conducted since 2012. Studies fulfilled the inclusion criteria if they were primary research papers conducted on healthcare professionals about their knowledge and views on health-related DTC-GT. PubMed, Embase, CINAHL, PsycINFO and Medline databases were searched from 2012 to May 2021. Title and abstract were screened, and full texts were reviewed by two study authors independently. New papers included were appraised and data were extracted on study characteristics, knowledge and views on DTC-GT, and ethical and legal issues. A narrative synthesis was conducted. Nineteen new papers were included, along with eight papers from the previous review. There was considerable variation in study participants with differing views, awareness levels, and levels of knowledge about DTC-GT. Genetic counsellors and clinical geneticists generally had more concerns, experience, and knowledge regarding DTC-GT. Ten ethical concerns and four legal concerns were identified. Healthcare professionals' knowledge and experience of DTC-GT, including awareness of DTC-GT ethical and legal concerns, have only minimally improved since the previous review. This emphasises the need for further medical learning opportunities to improve the gaps in knowledge amongst healthcare professionals about DTC-GT.
Topics: Humans; Delivery of Health Care; Direct-To-Consumer Screening and Testing; Genetic Testing; Health Personnel; Morals
PubMed: 36220915
DOI: 10.1038/s41431-022-01205-8 -
Prenatal Diagnosis Sep 2021Investigators have long been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these... (Review)
Review
Investigators have long been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these circulating cells makes their detection and isolation technically challenging. However, as a DNA source of fetal origin not mixed with maternal DNA, they have the potential of considerable benefit over circulating cell-free DNA-based noninvasive prenatal genetic testing (NIPT). Endocervical trophoblasts, which are less rare but more challenging to recover are also being investigated as an approach for cell-based NIPT. We review published studies from around the world describing both forms of cell-based NIPT and highlight the different approaches' advantages and drawbacks. We also offer guidance for developing a sound cell-based NIPT protocol.
Topics: Cells; Female; Humans; Noninvasive Prenatal Testing; Placenta; Pregnancy
PubMed: 33974713
DOI: 10.1002/pd.5957 -
BMC Health Services Research Sep 2022Effective care services for people whose work participation is at risk require low-threshold access, a comprehensive diagnostic clarification of intervention needs, a...
BACKGROUND
Effective care services for people whose work participation is at risk require low-threshold access, a comprehensive diagnostic clarification of intervention needs, a connection to the workplace and job demands, and interdisciplinary collaboration between key stakeholders at the interface of rehabilitation and occupational medicine. We have developed a comprehensive diagnostic service to clarify intervention needs for employees with health restrictions and limited work ability: this service is initiated by occupational health physicians.
METHODS/DESIGN
Our randomized controlled trial tests the effectiveness of a comprehensive diagnostic service for clarifying intervention needs (GIBI: Comprehensive clarification of the need for intervention for people whose work participation is at risk). The comprehensive intervention comprises three elements: initial consultation, two-day diagnostics at a rehabilitation center and follow-up consultations. We will include 210 employees with health restrictions and limited work ability, who are identified by occupational health physicians. All individuals will receive an initial consultation with their occupational health physician to discuss their health, work ability and job demands. After this, half the individuals are randomly assigned to the intervention group and the other half to the waiting-list control group. Individuals in the intervention group start two-day diagnostics, carried out by a multi-professional rehabilitation team in a rehabilitation center, shortly after the initial consultation. The diagnostics will allow first recommendations for improving work participation. The implementation of these recommendations is supported by an occupational health physician in four follow-up consultations. The control group will receive the comprehensive two-day diagnostic service and subsequent follow-up consultations six months after the initial consultation. The primary outcome of the randomized controlled trial is self-rated work ability assessed using the Work Ability Score (0 to 10 points) six months after study inclusion. Secondary outcomes include a range of patient-reported outcomes regarding physical and mental health, impairment, and the physical and mental demands of jobs.
DISCUSSION
This randomized controlled trial is designed to test the effects of a new complex intervention involving a comprehensive clarification of intervention needs in order to promote work participation and prevent the worsening of health and work disability.
TRIAL REGISTRATION
German Clinical Trials Register (DRKS00027577, February 01, 2022).
Topics: Diagnostic Services; Humans; Medicine; Occupational Health Physicians; Occupational Medicine; Randomized Controlled Trials as Topic; Rehabilitation Centers
PubMed: 36085150
DOI: 10.1186/s12913-022-08513-1