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Pediatrics Mar 2020Next-generation sequencing has revolutionized the diagnostic process, making broadscale testing affordable and applicable to almost all specialties; however, there...
Next-generation sequencing has revolutionized the diagnostic process, making broadscale testing affordable and applicable to almost all specialties; however, there remain several challenges in its widespread implementation. Barriers such as lack of infrastructure or expertise within local health systems and complex result interpretation or counseling make it harder for frontline clinicians to incorporate genomic testing in their existing workflow. The general population is more informed and interested in pursuing genetic testing, and this has been coupled with the increasing accessibility of direct-to-consumer testing. As a result of these changes, primary care physicians and nongenetics specialty providers find themselves seeing patients for whom genetic testing would be beneficial but managing genetic test results that are out of their scope of practice. In this report, we present a practical and centralized approach to providing genomic services through an independent, enterprise-wide clinical service model. We present 4 years of clinical experience, with >3400 referrals, toward designing and implementing the clinical service, maximizing resources, identifying barriers, and improving patient care. We provide a framework that can be implemented at other institutions to support and integrate genomic services across the enterprise.
Topics: Child; Delivery of Health Care; Genetic Testing; Genomics; Humans; Pediatrics
PubMed: 32102930
DOI: 10.1542/peds.2019-0855 -
South African Medical Journal =... Feb 2016The decision of the UK House of Commons in 2015 to endorse the use of pioneering in vitro fertilisation techniques to protect future generations from the risk of...
The decision of the UK House of Commons in 2015 to endorse the use of pioneering in vitro fertilisation techniques to protect future generations from the risk of mitochondrial DNA (mtDNA) disease has sparked worldwide controversy and debate. The availability of such technologies could benefit women at risk of transmitting deleterious mutations. MtDNA disease certainly occurs in South Africa (SA) in all population groups. However, diagnostic strategies and practices for identifying individuals who would benefit from technologies such as IVF have in the past been suboptimal in this country. New developments in the molecular diagnostic services available to SA patients, as well as better education of referring clinicians and the implementation of more structured, population-appropriate diagnostic strategies, may open the floor to this debate in SA.
Topics: DNA, Mitochondrial; Female; Genetic Testing; Health Services Accessibility; Health Services Needs and Demand; Humans; Male; Mitochondrial Diseases; Mitochondrial Replacement Therapy; Reproductive Techniques, Assisted; South Africa
PubMed: 26915934
DOI: 10.7196/SAMJ.2016.v106i3.10170 -
Australian Dental Journal Sep 2016Diagnostic services are the most common area of dental service in Australia. The objective was to investigate differences in services per visit for examinations and...
BACKGROUND
Diagnostic services are the most common area of dental service in Australia. The objective was to investigate differences in services per visit for examinations and radiographs in relation to the characteristics of patients receiving these services in terms of age and gender, aspects of visiting such as dental insurance and reasons for visit, and oral health such as number of teeth and presence of decay.
METHODS
A random sample of Australian dentists was surveyed in 2009-2010. Data on diagnostic services and patient characteristics were collected from a service log.
RESULTS
A total of 1148 dentists responded (response rate = 67%). Models adjusted for age and gender of patients showed that rates [Rate Ratio, 95% CI] of examinations were higher for insured patients [1.13; 1.06-1.21], while rates of radiographs were higher for emergency visits [1.25; 1.11-1.48]. Patients with 20 or more teeth had higher rates for examinations [1.15; 1.01-1.32] and radiographs [1.28; 1.02-1.60]. Decayed teeth were associated with lower examination rates [0.70; 0.65-0.76] but higher rates of radiographs [1.34; 1.16-1.55].
CONCLUSIONS
The finding that number of teeth was associated with higher rates of examinations and radiographs suggests that retention of teeth could be influencing the increasing rates of diagnostic services in Australia.
Topics: Adolescent; Adult; Aged; Australia; Child; Child, Preschool; Dental Care; Diagnostic Services; Female; Humans; Insurance, Dental; Male; Middle Aged; Practice Patterns, Dentists'; Radiography, Dental; Surveys and Questionnaires; Tooth Diseases; Young Adult
PubMed: 27480290
DOI: 10.1111/adj.12373 -
Clinics in Laboratory Medicine Mar 2024Syndromic respiratory panels are now widely available in clinical microbiology laboratories and health care institutions. These panels can rapidly diagnose infections... (Review)
Review
Syndromic respiratory panels are now widely available in clinical microbiology laboratories and health care institutions. These panels can rapidly diagnose infections and detect antimicrobial resistance genes allowing for more rapid therapeutic optimization compared to standard microbiology approaches. However, given reimbursement concerns and limitations of multiplex molecular testing and results interpretation, maximum clinical utility and positive clinical outcomes depend on active diagnostic stewardship. Here, the authors review clinical outcomes of both upper and lower respiratory panels and present diagnostic stewardship strategies for optimal use of respiratory panels.
Topics: Anti-Infective Agents; Molecular Diagnostic Techniques; Antimicrobial Stewardship; Clinical Laboratory Services
PubMed: 38280797
DOI: 10.1016/j.cll.2023.10.001 -
The International Journal of... Feb 2021
Topics: Africa; Diagnostic Services; Dyspnea; Humans; Plant Leaves
PubMed: 33656418
DOI: 10.5588/ijtld.20.0853 -
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 -
American Journal of Medical Genetics.... Mar 2018As the public's interest in genetics and genomics has increased, there has been corresponding and unprecedented growth in direct-to-consumer genetic testing (DTC-GT)....
As the public's interest in genetics and genomics has increased, there has been corresponding and unprecedented growth in direct-to-consumer genetic testing (DTC-GT). Although regulatory concerns have limited true DTC-GT available without a physician order, the paradigm has shifted to a model of consumer-directed genetic testing (CD-GT) in which patients are researching testing options and requesting specific genetic testing from their health-care providers. However, many nongenetics health-care providers do not have the background, education, interest, or time to order and/or interpret typical clinical genetic testing, let alone DTC-GT. The lines between CD-GT, DTC-GT, and traditional clinical genetic testing are also blurring with the same types of tests available in different settings (e.g., carrier screening) and tests merging medical and nonmedical results, increasing the complexity for consumer decision-making and clinician management. The genetics community has the training to work with CD-GT, but there has been a hesitancy to commit to working with these results and questions about what to do when consumers have more complicated asks, like interpretation of raw data. Additionally, at the rate with which CD-GT is growing, there are questions about having sufficient genetics professionals to meet the potential genetic counseling demand. While there are many complex questions and challenges, this market represents a chance for the genetics community to address and unmet need. We will review the history of the CD-GT/DTC-GT market and outline the issues and opportunities our profession is facing.
Topics: Counselors; Direct-To-Consumer Screening and Testing; Genetic Carrier Screening; Genetic Testing; Humans; Pedigree
PubMed: 29512889
DOI: 10.1002/ajmg.c.31603 -
PloS One 2020Federal Ministry of Health (FMoH) Ethiopia achieved significant declines in malaria mortality and incidence and has recently launched malaria elimination in selected low... (Clinical Trial)
Clinical Trial
BACKGROUND
Federal Ministry of Health (FMoH) Ethiopia achieved significant declines in malaria mortality and incidence and has recently launched malaria elimination in selected low transmission settings. Successful malaria elimination calls for rapid and accurate diagnosis of cases so that the patients can promptly be treated before the occurrence of transmission. Therefore, this study assessed the competency of malaria microscopists using panal slides, and laboratory service availability and readiness in terms of supplies and equipments in malaria elimination targeted districts in Ethiopia.
METHOD
A cross-sectional study was conducted from February to June 2018 in all hospitals, health centers and private clinics in 20 malaria elimination targeted districts, selected out of the 6 regional states in Ethiopia. All malaria microscopists available in the study health facilities during the study period were included in the study. Questionnaires were used for interviewing sociodemography of personnel and laboratory supplies. Per World Health Organization (WHO) criteria set for proficiency testing, 10 Giemsa stained malaria slide panels (8 positive low/high density pf/pv/Mixed and 2 negative slides) were administered to each study participant for performance assessment on malaria parasite detection, species identification and parasite count using light microscopy. The slide panels are PCR confirmed and WHO approved ones, which have been stored in the slide banks at the national reference laboratory in Ethiopian Public Health Institute.
RESULT
In this assessment, 17(16%) district hospitals, 71(67%) health centers (HCs) and 18(17%) private clinics (PCs) were included. Of the 18 PCs, only 10(55.6%) had license certificate. Of the study facilities, 91.5%(97) use light microscopy, 2.83%(3) use RDTs and 2.9%(3) use both microscopy and RDT to detect malaria. Accessible and appropriate storage of Giemsa was reported by 58.8%(10) hospitals, 81.7%(58) HCs & 72.2%(13) private clinics. Of the 1896 malaria positive & 474 negative slides administered to 237 study participants, 318(16.8%) slides reported falsely negative & 47(9.9%) reported falsely positive. The participants achieved "good" grade [Agreement(A): 84.6%, Kappa(K): 0.6] on parasite detection and "poor" agreement (A: 43.8%; K: 0.11) on every species identification. No or slight agreement seen on differentiation of P. falciparum from other species (A: 28.41%; K:0.29). Above 95%(201) of participants, did not count or used plus system of parasite estimation which is the least accurate and unreccomended method per WHO guideline.
CONCLUSION
In the current study, low performance of malaria microscopists particularly in species identification & poor to moderate capacity of laboratories observed. This is really a great obstacle to malaria elimination strategy of the country. Therefore, national malaria control and elimination program in collaboration with partners is supposed to provide comprehensive training for professionals giving laboratory service and to fulfill laboratory supplies to have the gold standard service.
Topics: Adult; Cross-Sectional Studies; Diagnostic Services; Ethiopia; Female; Humans; Laboratory Proficiency Testing; Malaria, Falciparum; Male; Microscopy; Middle Aged
PubMed: 32584866
DOI: 10.1371/journal.pone.0235151 -
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 -
American Journal of Medical Genetics.... Dec 2022Children with genetic diseases endure a prolonged and costly "diagnostic odyssey." The use of whole exome sequencing (WES) and whole genome sequencing (WGS) has improved...
Children with genetic diseases endure a prolonged and costly "diagnostic odyssey." The use of whole exome sequencing (WES) and whole genome sequencing (WGS) has improved the diagnosis rate, ending the odyssey. However, the additional costs associated WES/WGS has impeded their adoption in Asian settings. We aim to estimate the expected change to the mean number of diagnostic tests used, and the associated costs from a decision to use WES early in the diagnostic pathways of pediatric phenotypes, as compared to Existing Practice. Retrospective data from a patient cohort recruited under the Singapore Undiagnosed Disease Program from a tertiary hospital in Singapore, for the period October 2004 to September 2020, was analyzed. Four phenotype-specific subgroups were used: multiple congenital anomalies (MCA) without developmental delay; global developmental delay (GDD); neuromuscular disorder (NMD) and primary immunodeficiency disorder (PID). Patients had undergone a traditional diagnostic pathway and received a diagnosis either through clinical exome or WES or WGS. A costs only analysis was performed, by tabulating the outcomes "test quantity" and "test costs" incurred by patients. The outcomes were compared with alternate diagnostic pathways which incorporates the early introduction of WES trio testing. To include uncertainty in cost outcomes, simulation studies were done on uncertain parameters. Cost outcomes are reported in Singapore dollars (S$). The 92 included patients had MCA (n = 48), GDD (n = 29), NMD (n = 10), or PID (n = 5). Patients were aged between 18 days and 26 years, 52.2% were males. The majority were of Chinese ethnicity (81.5%). If patients had access to WES directly, test quantity reduced by 97.38% for MCA, 96.98% for GDD, 96.56% for NMD, and 99.84% for PID. The expected cost savings per patient were $5940 for MCA (US$4433), $5342 for GDD (US$3986), $4622 for NMD (US$3449), and $58,497 for PID (US$43,654). Uncertainty assessment for MCA and GDD patients showed a respective likelihood of 86.9% and 97.4% for cost savings. Adoption of alternate diagnostic pathways with early WES in selected pediatric subgroups are likelt to reduce costs, when compared to Existing Practice. Benefits arising from earlier diagnosis, and the potential cost savings could mitigate the large initial cost of implementing WES in Asian settings.
Topics: Humans; Male; Female; Retrospective Studies; High-Throughput Nucleotide Sequencing; Exome Sequencing; Exome; Phenotype; Abnormalities, Multiple; Rare Diseases; Genetic Testing
PubMed: 36156406
DOI: 10.1002/ajmg.a.62974