-
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 -
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 -
Journal of Clinical Microbiology Sep 2017Group B streptococcus (GBS) is a leading cause of invasive neonatal infections and a significant pathogen in immunocompromised adults. Screening to detect GBS... (Review)
Review
Group B streptococcus (GBS) is a leading cause of invasive neonatal infections and a significant pathogen in immunocompromised adults. Screening to detect GBS colonization in pregnant women determines the need for antibiotic prophylaxis in that pregnancy. Efficient determination of the GBS colonization status of pregnant women is crucial. Methods that maximize the probability of GBS recovery are needed. The availability of technologies such as matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS), molecular techniques, and chromogenic culture media, including Granada-type media, have changed the scenario for GBS detection and identification. This review presents and evaluates novel diagnostic tools, as well as classic identification techniques, for GBS species determination.
Topics: Antibiotic Prophylaxis; Bacterial Typing Techniques; Clinical Laboratory Services; Female; Humans; Pregnancy; Pregnancy Complications, Infectious; Streptococcal Infections; Streptococcus agalactiae
PubMed: 28659318
DOI: 10.1128/JCM.00582-17 -
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 -
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 -
European Journal of Human Genetics :... Nov 2017In the wake of recent regulations targeting direct-to-consumer genetic testing (DTC-GT), an increasing number of websites have emerged that offer consumers alternative... (Review)
Review
In the wake of recent regulations targeting direct-to-consumer genetic testing (DTC-GT), an increasing number of websites have emerged that offer consumers alternative means to derive health information from their DTC-GT raw data. While the ethical concerns associated with DTC-GT have been extensively discussed in the literature, the implications of third party interpretation (TPI) websites have remained largely unexplored. Here we sought to describe these services and elucidate their ethical implications in the context of the current DTC-GT debate. We reviewed five popular TPI websites that use SNP-based genomic data to report health-related information: Promethease, Interpretome, LiveWello, Codegen.eu, and Enlis Personal. We found that many of the ethical concerns previously described in DTC-GT also applied to TPI websites, including inadequate informed consent, questionable clinical validity and utility, and lack of medical supervision. However, some concerns about data usage and privacy reported in DTC-GT were less prominent in the five TPI websites we studied: none of them sold or shared user data, and 3/5 sites did not retain data in the long term. In addition, while exaggerated claims and inaccurate advertising have been frequently problematic in DTC-GT, advertising was minimal in the TPI sites we assessed, and 4/5 made no claims of health benefits. Overall, TPI adds a new dimension to the ethical debate surrounding DTC-GT, and awareness of these services will become increasingly important as personal genomics continues to expand. This study constitutes the first detailed ethical analysis of these services, and presents a starting point for further research and ethical reflection.
Topics: Direct-To-Consumer Screening and Testing; Genetic Testing; Genome-Wide Association Study; Humans
PubMed: 28832567
DOI: 10.1038/ejhg.2017.126 -
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 -
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 -
The Medical Clinics of North America Jul 2018Substance use disorders are highly prevalent and are a large driver of costly inpatient medical care; however, historically the substance use disorder has gone... (Review)
Review
Substance use disorders are highly prevalent and are a large driver of costly inpatient medical care; however, historically the substance use disorder has gone unaddressed during an inpatient stay. Inpatient addiction consult services are an important intervention to use the reachable moment of hospitalization to engage patients and initiate addiction treatment. Addiction consultation involves taking an addiction-specific history, motivational interviewing, withdrawal symptom management, and initiation of long-term pharmacotherapy. Addiction consult services have the potential to decrease readmissions and utilization costs for medical systems and improve substance-related outcomes for patients.
Topics: Alcoholism; Diagnostic Tests, Routine; Hospitalization; Humans; Inpatients; Mass Screening; Medical History Taking; Motivational Interviewing; Patient Care Team; Severity of Illness Index; Substance Withdrawal Syndrome; Substance-Related Disorders
PubMed: 29933817
DOI: 10.1016/j.mcna.2018.03.001