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European Journal of Radiology Aug 2023Since 1989, hundreds of thousands of lives have been saved worldwide by the widespread use of screening mammography alongside new developments in breast cancer treatment...
Since 1989, hundreds of thousands of lives have been saved worldwide by the widespread use of screening mammography alongside new developments in breast cancer treatment [1]. The ability of screening mammography to detect cancer early, when treatment is most effective, is optimized when it is performed in the highest quality manner and accessed by all eligible candidates. Currently, worldwide, there are over 14 guidance documents for mammographic quality [2]. Some countries, such as the United Kingdom (UK), monitor quality through a national screening program. In the United States (US), where 39 million mammograms are performed annually [3], there is not a national screening program, but the federal government mandates minimum quality standards for the performance of mammography. Among a consortium of European countries, the European Reference Organisation for Quality Assured Breast Screening and Diagnostic Services (EUREF) promotes voluntary adherence to European mammography quality standards. Setting quality standards at national or international levels ensures the uniformity of practice and identifies substandard practices in need of improvement, ultimately maximizing the benefit of screening mammography.
Topics: Humans; United States; Female; Mammography; Breast Neoplasms; Mass Screening; Early Detection of Cancer; Europe; Quality Assurance, Health Care
PubMed: 37354771
DOI: 10.1016/j.ejrad.2023.110935 -
The Veterinary Clinics of North... Sep 2020The era of precision/genomic medicine has arrived, including its application within veterinary medicine for the health care of companion animals. The plummeting costs of... (Review)
Review
The era of precision/genomic medicine has arrived, including its application within veterinary medicine for the health care of companion animals. The plummeting costs of assaying large groups of genetic tests into one panel has led many laboratories offering direct-to-consumer (DTC) genetic testing for animals, including cats. However, proper education of the consumer and the veterinarian is lacking, causing a significant lack of genetic counseling pertaining to the results of the genetic tests. This article addresses the current state of DTC testing in domestic cats and the implications for veterinary care.
Topics: Animals; Cat Diseases; Cats; Direct-To-Consumer Screening and Testing; Genetic Testing
PubMed: 32665138
DOI: 10.1016/j.cvsm.2020.05.004 -
Clinics in Laboratory Medicine Mar 2020The number of companies offering direct-to-consumer genetic tests is increasing. There is growing concern over whether direct-to-consumer genetic companies should be... (Review)
Review
The number of companies offering direct-to-consumer genetic tests is increasing. There is growing concern over whether direct-to-consumer genetic companies should be allowed to offer clinically relevant testing that has only been possible under medical care. Direct-to-consumer genetic testing can be incomplete, inaccurate, and inappropriate. The usefulness of such testing is extremely limited and it is unclear how well customers understand reported results. Research on the long-term impact of direct-to-consumer genetic testing is necessary to determine if stricter regulations regarding the performance of direct-to-consumer genetic testing are necessary.
Topics: Direct-To-Consumer Screening and Testing; Genetic Testing; Humans; Neoplasms
PubMed: 32008642
DOI: 10.1016/j.cll.2019.11.005 -
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 -
American Journal of Medical Genetics.... Feb 2023Clinical exome sequencing (ES) is the most comprehensive genomic test to identify underlying genetic diseases in Canada. We performed this retrospective cohort study to... (Review)
Review
Clinical exome sequencing (ES) is the most comprehensive genomic test to identify underlying genetic diseases in Canada. We performed this retrospective cohort study to investigate the diagnostic yield of clinical ES in adulthood. Inclusion criteria were: (1) Adult patients ≥18 years old; (2) Patients underwent clinical ES between January 1 and December 31, 2021; (3) Patients were seen in the Department of Medical Genetics. We reviewed patient charts. We applied American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant classification guidelines for interpretation of variants. Non-parametric Fisher's exact statistical test was used. Seventy-seven patients underwent clinical ES. Fourteen different genetic diseases were confirmed in 15 patients: FBXO11, MYH7, MED13L, NSD2, ANKRD11 (n = 2), SHANK3, RHOBTB2, CDKL5, TRIO, TCF4, SCN1, SMAD3, POGZ, and EIF2B3 diseases. The diagnostic yield of clinical ES was 19.5%. Patients with a genetic diagnosis had a significantly higher frequency of neurodevelopmental disorders than those with no genetic diagnosis (p = 0.00339). The diagnostic yield of clinical ES was the highest in patients with seizures (35.7%), and with progressive neurodegenerative diseases (33.3%). Clinical ES is a helpful genomic test to provide genetic diagnoses to the patients who are referred to medical genetic clinics due to suspected genetic diseases in adulthood to end their diagnostic odyssey. Targeted next generation sequencing panels for specific phenotypes may decrease the cost of genomic test in adulthood.
Topics: Humans; Exome Sequencing; Genetic Testing; Genetics, Medical; Neurodevelopmental Disorders; Phenotype; Retrospective Studies
PubMed: 36401557
DOI: 10.1002/ajmg.a.63053 -
Diagnosis (Berlin, Germany) Aug 2021Clinical laboratory testing provides essential data for making medical diagnoses. Generating accurate and timely test results clearly communicated to the treating... (Review)
Review
OBJECTIVES
Clinical laboratory testing provides essential data for making medical diagnoses. Generating accurate and timely test results clearly communicated to the treating clinician, and ultimately the patient, is a critical component that supports diagnostic excellence. On the other hand, failure to achieve this can lead to diagnostic errors that manifest in missed, delayed and wrong diagnoses.
CONTENT
Innovations that support diagnostic excellence address: 1) test utilization, 2) leveraging clinical and laboratory data, 3) promoting the use of credible information resources, 4) enhancing communication among laboratory professionals, health care providers and the patient, and 5) advancing the use of diagnostic management teams. Integrating evidence-based laboratory and patient-care quality management approaches may provide a strategy to support diagnostic excellence. Professional societies, government agencies, and healthcare systems are actively engaged in efforts to advance diagnostic excellence. Leveraging clinical laboratory capabilities within a healthcare system can measurably improve the diagnostic process and reduce diagnostic errors.
SUMMARY
An expanded quality management approach that builds on existing processes and measures can promote diagnostic excellence and provide a pathway to transition innovative concepts to practice.
OUTLOOK
There are increasing opportunities for clinical laboratory professionals and organizations to be part of a strategy to improve diagnoses.
Topics: Clinical Laboratory Services; Communication; Delivery of Health Care; Diagnostic Errors; Humans; Laboratories
PubMed: 33554526
DOI: 10.1515/dx-2020-0119 -
Ugeskrift For Laeger Mar 2021Risk of genetic diseases with autosomal recessive or X-linked inheritance can be unknown to prospective parents until an affected child is born. New technology has... (Review)
Review
Risk of genetic diseases with autosomal recessive or X-linked inheritance can be unknown to prospective parents until an affected child is born. New technology has enabled carrier screening for hundreds of genetic diseases (expanded carrier screening, ECS). I Denmark, each year estimated 100-180 children are born affected with a serious condition which could have been detected with ECS of the parents. This review describes the considerations and perspectives of a systematic genetic screening programme for prospective parents in the Danish healthcare system.
Topics: Child; Genetic Carrier Screening; Genetic Counseling; Genetic Testing; Humans; Parents; Prospective Studies
PubMed: 33829993
DOI: No ID Found -
European Journal of Human Genetics :... Feb 2022Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to... (Review)
Review
Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the paradigm of rare disease diagnosis, delivering results in real time to inform patient management. More than 20 studies totalling over 1500 patients from diverse healthcare settings worldwide have now been published, forming a compelling evidence base for healthcare system implementation. We review the reported diagnostic and clinical outcomes, as well as broader evaluations of family and professional experiences, cost effectiveness, implementation challenges and bioethical issues arising from rapid testing. As rapid genomic testing transitions from the research to the healthcare setting to become a 'standard of care' test, there is a need to develop effective service delivery models to support scalability at both the laboratory and clinical level and promote equity of access, prompt test initiation, integrated multidisciplinary input and holistic family support. Harnessing the high level of professional engagement with rapid genomic testing programmes will continue to drive innovation and adoption, while close integration with emerging precision medicine approaches will be necessary to deliver on the promise of reduced infant and child mortality.
Topics: Child; Critical Illness; Delivery of Health Care; Genetic Testing; Humans; Infant; Infant, Newborn; Standard of Care
PubMed: 34744166
DOI: 10.1038/s41431-021-00990-y -
Current Opinion in Pediatrics Dec 2021A single genetic diagnosis, especially from the analysis of a limited number of genes, may not signal the end of a diagnostic odyssey. When a patient with a genetic... (Review)
Review
PURPOSE OF REVIEW
A single genetic diagnosis, especially from the analysis of a limited number of genes, may not signal the end of a diagnostic odyssey. When a patient with a genetic syndrome presents with symptoms that are not usually associated with their disease phenotype, additional genetic testing is warranted.
RECENT FINDINGS
Although multiple co-existing genetic diagnoses may sound unlikely, many recent studies and case reports have demonstrated that this scenario is more common than expected. Studies involving whole exome and genome sequencing have identified a frequency of multiple genetic diagnoses and have identified clinical findings that make a second diagnosis more likely, which we have seen reflected in recent cases from our own clinic and consult service. These include multisystem disease, consanguinity, well described aneuploidies with rare or new symptoms, and complex structural chromosomal anomalies which may include multiple chromosomes and breakpoints that disrupt gene function.
SUMMARY
Identifying a second diagnosis can have vast implications for patient management and counseling. Patients can be followed with appropriate medical screening and early interventions to support optimal child development. Furthermore, the patient's family can be impacted by ending the diagnostic odyssey, providing testing for other at-risk family members, and offering prenatal options.
Topics: Exome; Family; Female; Genetic Testing; Humans; Phenotype; Pregnancy; Exome Sequencing
PubMed: 34654050
DOI: 10.1097/MOP.0000000000001072 -
Autism Research : Official Journal of... Jul 2020Autism research is heavily skewed toward western high-income countries. Culturally appropriate screening and diagnostic instruments for autism are lacking in most low-... (Review)
Review
Autism research is heavily skewed toward western high-income countries. Culturally appropriate screening and diagnostic instruments for autism are lacking in most low- and middle-income settings where the majority of the global autism population lives. To date, a clear overview of the possible cultural and contextual factors that may affect the process of identifying and diagnosing individuals with autism spectrum disorders (ASD) is missing. This study aims to outline these factors by proposing a conceptual framework. A multidisciplinary review approach was applied to inform the development of the conceptual framework, combining a systematic review of the relevant autism research literature with a wider literature search spanning key texts in global mental health, cultural psychiatry, cross-cultural psychology, and intellectual disability research. The resulting conceptual framework considers the identification, help-seeking, and diagnostic process at four interrelated levels: (a) the expression; (b) recognition; (c) interpretation; and (d) reporting of autism symptoms, and describes the cultural and contextual factors associated with each of these levels, including cultural norms of typical and atypical behavior, culture-specific approaches to parenting, mental health literacy, cultural beliefs, attitudes and stigma, as well as the affordability, availability, accessibility, and acceptability of services. This framework, mapping out the cultural and contextual factors that can affect the identification, help-seeking, and diagnosis of ASD may function as a springboard for the development of culturally appropriate autism screening and diagnostic instruments, and inform future cross-cultural autism research directions. The framework also has relevance for clinicians and policy makers aiming to improve support for underserved autism populations worldwide. Autism Res 2020, 13: 1029-1050. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The vast majority of autism research is conducted in western high-income settings. We therefore know relatively little of how culture and context can affect the identification, help-seeking, and diagnosis of autism across the globe. This study synthesizes what is known from the autism research literature and a broader literature and maps out how culture and context may affect (a) the expression, (b) recognition, (c) interpretation, and (d) reporting of autism symptoms.
Topics: Autism Spectrum Disorder; Humans; Mass Screening; Parenting; Surveys and Questionnaires
PubMed: 32083402
DOI: 10.1002/aur.2276