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Journal of Clinical Neuromuscular... Jun 2023The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated...
The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance.
Topics: Humans; Mutation; Phenotype; Genetic Testing; Muscle, Skeletal; Muscular Dystrophy, Duchenne
PubMed: 37219861
DOI: 10.1097/CND.0000000000000436 -
Journal of Neurology Feb 2022To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the... (Review)
Review
OBJECTIVE
To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling, education, and support.
METHODS
Four databases were systematically searched for articles published from 2009 to 2020. Peer-reviewed research articles in English that reported research and clinical genetic counseling and testing practices for LONDs were included. A narrative synthesis was conducted to describe different practices and map genetic counseling activities to the goals. Risk of bias was assessed using the Qualsyst tool. The protocol was registered with PROSPERO (CRD42019121421).
RESULTS
Sixty-one studies from 68 papers were included. Most papers focused on predictive testing (58/68) and Huntington's disease (41/68). There was variation between papers in study design, study population, outcomes, interventions, and settings. Although there were commonalities, novel and inconsistent genetic counseling practices were identified. Eighteen papers addressed all four goals of genetic counseling.
CONCLUSION
Contemporary genetic counseling and testing practices for LONDs are varied and informed by regional differences and the presence of different health providers. A flexible, multidisciplinary, client- and family-centered care continues to emerge. As genetic testing becomes a routine part of care for patients (and their relatives), health providers must balance their limited time and resources with ensuring clients are safely and effectively counseled, and all four genetic counseling goals are addressed. Areas of further research include diagnostic and reproductive genetic counseling/testing practices, evaluations of novel approaches to care, and the role and use of different health providers in practice.
Topics: Counseling; Genetic Counseling; Genetic Testing; Humans; Neurodegenerative Diseases
PubMed: 33649871
DOI: 10.1007/s00415-021-10461-5 -
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 -
JAMA Jun 2024Among all US women, breast cancer is the second most common cancer and the second most common cause of cancer death. In 2023, an estimated 43 170 women died of breast...
IMPORTANCE
Among all US women, breast cancer is the second most common cancer and the second most common cause of cancer death. In 2023, an estimated 43 170 women died of breast cancer. Non-Hispanic White women have the highest incidence of breast cancer and non-Hispanic Black women have the highest mortality rate.
OBJECTIVE
The USPSTF commissioned a systematic review to evaluate the comparative effectiveness of different mammography-based breast cancer screening strategies by age to start and stop screening, screening interval, modality, use of supplemental imaging, or personalization of screening for breast cancer on the incidence of and progression to advanced breast cancer, breast cancer morbidity, and breast cancer-specific or all-cause mortality, and collaborative modeling studies to complement the evidence from the review.
POPULATION
Cisgender women and all other persons assigned female at birth aged 40 years or older at average risk of breast cancer.
EVIDENCE ASSESSMENT
The USPSTF concludes with moderate certainty that biennial screening mammography in women aged 40 to 74 years has a moderate net benefit. The USPSTF concludes that the evidence is insufficient to determine the balance of benefits and harms of screening mammography in women 75 years or older and the balance of benefits and harms of supplemental screening for breast cancer with breast ultrasound or magnetic resonance imaging (MRI), regardless of breast density.
RECOMMENDATION
The USPSTF recommends biennial screening mammography for women aged 40 to 74 years. (B recommendation) The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening mammography in women 75 years or older. (I statement) The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of supplemental screening for breast cancer using breast ultrasonography or MRI in women identified to have dense breasts on an otherwise negative screening mammogram. (I statement).
Topics: Humans; Breast Neoplasms; Female; Mammography; Early Detection of Cancer; Middle Aged; Aged; Adult; Magnetic Resonance Imaging; Age Factors; Ultrasonography, Mammary; United States; Mass Screening
PubMed: 38687503
DOI: 10.1001/jama.2024.5534 -
Ultrasound in Obstetrics & Gynecology :... Dec 2023Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature,... (Review)
Review
OBJECTIVES
Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of the available literature on the prenatal diagnosis and postnatal outcome of CKD and to summarize the current evidence on this topic.
METHODS
A systematic review of the literature on the prenatal diagnosis of CKD was performed in PubMed, Scopus and EMBASE. A predefined combination of specific keywords was used, focusing on intrauterine manifestations, diagnostic methods, prenatal behavior, postnatal treatment and neonatal outcome as well as long-term outcome in terms of ambulation, motion and joint stability. The quality of studies was assessed using the National Institutes of Health tool for quality assessment of case series. A summary of results was carried out providing proportions and rates of diagnostic and prognostic features associated with this rare condition.
RESULTS
In total, 20 cases were retrieved for analysis, of which 19 were obtained from the identified eligible studies (n = 16) and one was an unpublished case from our center. The median gestational age at prenatal diagnosis, which was made using ultrasound in most cases, was 20 weeks (range, 14-38 weeks). Bilaterality was observed in 11/20 (55%) cases. The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 (65%) cases. An association was observed with oligohydramnios (4/20 (20%)), and an invasive procedure was performed in 13/20 (65%) cases, including 11 cases with an invasive procedure performed for diagnostic purposes. Genetic testing was normal in all isolated cases for which information was available (4/7), while a genetic syndrome was present in 10/13 (77%) non-isolated cases (Larsen, Noonan, Grebe, Desbuquois or Escobar syndrome). There were seven terminations of pregnancy, of which six were performed in cases with associated anomalies and one in an isolated case, 11 cases of postnatal survival, one case of intrauterine death and one of neonatal death. The fetal and neonatal deaths occurred in cases with associated anomalies or abnormal genetic findings. Postnatal treatment was mostly conservative, with only two reports (18% of the 11 surviving neonates) of surgical intervention, both in cases with associated anomalies. Postnatal follow-up was up to 1 year in most cases, and motor outlook appeared normal in all isolated cases.
CONCLUSIONS
CKD is a rare fetal anomaly with a prenatal diagnosis achievable from the early second trimester, for which a favorable outcome can be expected when no associated anomalies are present. Prenatal diagnosis should include detailed ultrasound assessment and amniocentesis for extensive genetic studies, particularly in non-isolated cases. Early postnatal treatment achieves success in most cases without surgical intervention and leads to a normal motor outlook. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Infant, Newborn; Pregnancy; Fetus; Genetic Testing; Prenatal Diagnosis; Renal Insufficiency, Chronic; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 37289939
DOI: 10.1002/uog.26283 -
Birth (Berkeley, Calif.) Mar 2021Postpartum anemia can negatively affect maternal health and interfere with early parenting. Thus, it is important to have clear, evidence-informed recommendations on its... (Review)
Review
BACKGROUND
Postpartum anemia can negatively affect maternal health and interfere with early parenting. Thus, it is important to have clear, evidence-informed recommendations on its diagnosis and treatment.
OBJECTIVE
To compare global recommendations regarding the appropriate management of postpartum anemia and to highlight similarities and differences.
METHODS
Systematic searches were conducted in the databases PubMed, CINAHL, LILACS, TRIP database, and Scopus, and in the websites of health institutions and scientific societies. Search terms were related to anemia and the postpartum period. Two hundred and eighty papers were identified; the full texts of 30 sets of guidelines were reviewed, with seven being included in the final analysis. Recommendations were extracted through an evaluation of the evidence on the definition, screening, and diagnosis of anemia. The quality of the guidelines was assessed using the AGREE II instrument.
RESULTS
Two sets of guidelines have been elaborated by international organizations, and the rest were produced by professional associations within high-resource countries. The discrepancies found in the guidelines are important and affect the definition of anemia, the criteria for screening asymptomatic women, or the criteria guiding treatment. The quality of the guidelines commonly scored between 4 and 6 on a scale of 0 to 7. Recommendations with poor-quality evidence predominated over recommendations with high-quality evidence.
CONCLUSIONS
This review highlights the need to reach a consensus on the definition of postpartum anemia, to agree on what constitutes a problem for maternal health, and to provide recommendations that reach greater consensus on its diagnosis and treatment.
Topics: Anemia; Female; Humans; Mass Screening; Postpartum Period
PubMed: 33274766
DOI: 10.1111/birt.12519 -
Atherosclerosis Aug 2022FH is still underdiagnosed. Cost-effectiveness results of preventive screening strategies vary. We aimed at systematically assessing the benefits, harms and cost... (Review)
Review
BACKGROUND AND AIMS
FH is still underdiagnosed. Cost-effectiveness results of preventive screening strategies vary. We aimed at systematically assessing the benefits, harms and cost effectiveness of screening for familial hypercholesterolemia (FH) and at providing an overview of the main characteristics and methodological approaches of applied decision-analytic models.
METHODS
A systematic literature search was conducted in MEDLINE, EconLit, CRD-databases and the CEA-registry for FH screening starting 2012. Earlier studies were included from a published systematic review. Results were reported in standardized semi-quantitative evidence tables. Costs were converted to current euros. Incremental cost-effectiveness ratios (ICERs) were recalculated according to economic guidelines.
RESULTS
Out of our 211 retrieved studies, eight were included in the review in addition to six studies from an earlier review. Studies were conducted in Europe (UK, The Netherlands, Spain, Poland), USA and Australia evaluating cascade (CS), opportunistic (OS), universal screening (UniS), or combinations using genetic testing, clinical criteria or combinations. Studies evaluating only CS identified strategies with an ICER of up to 37,100 EUR/quality-adjusted life-year (QALY) but some strategies were dominated depending on test combinations. UniS of newborns in combination with CS had an ICER≤15,000 EUR/QALY for sequential cholesterol-genetic screening. In other studies, UniS was dominated by OS/CS.
CONCLUSIONS
Our systematic review demonstrates the values of FH screening and provides an overview of potentially relevant screening strategies to be tested using a decision-analytic model for the respective country or region. Future research is needed on the transferability of results to other countries and modeling spillover effects to newborns.
Topics: Cost-Benefit Analysis; Genetic Testing; Humans; Hyperlipoproteinemia Type II; Infant, Newborn; Mass Screening; Quality-Adjusted Life Years
PubMed: 35870306
DOI: 10.1016/j.atherosclerosis.2022.06.1011 -
BMC Women's Health Feb 2024The incidence of breast cancer among Chinese women has gradually increased in recent years. This study aims to analyze the situation of breast cancer screening programs... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The incidence of breast cancer among Chinese women has gradually increased in recent years. This study aims to analyze the situation of breast cancer screening programs in China and compare the cancer detection rates (CDRs), early-stage cancer detection rates (ECDRs), and the proportions of early-stage cancer among different programs.
METHODS
We conducted a systematic review and meta-analysis of studies in multiple literature databases. Studies that were published between January 1, 2010 and June 30, 2023 were retrieved. A random effects model was employed to pool the single group rate, and subgroup analyses were carried out based on screening model, time, process, age, population, and follow-up method.
RESULTS
A total of 35 studies, including 47 databases, satisfied the inclusion criteria. Compared with opportunistic screening, the CDR (1.32‰, 95% CI: 1.10‰-1.56‰) and the ECDR (0.82‰, 95% CI: 0.66‰-0.99‰) were lower for population screening, but the proportion of early-stage breast cancer (80.17%, 95% CI: 71.40%-87.83%) was higher. In subgroup analysis, the CDR of population screening was higher in the urban group (2.28‰, 95% CI: 1.70‰-2.94‰), in the breast ultrasonography (BUS) in parallel with mammography (MAM) group (3.29‰, 95% CI: 2.48‰-4.21‰), and in the second screening follow-up group (2.47‰, 95% CI: 1.64‰-3.47‰), and the proportion of early-stage breast cancer was 85.70% (95% CI: 68.73%-97.29%), 88.18% (95% CI: 84.53%-91.46%), and 90.05% (95% CI: 84.07%-94.95%), respectively.
CONCLUSION
There were significant differences between opportunistic and population screening programs. The results of these population screening studies were influenced by the screening process, age, population, and follow-up method. In the future, China should carry out more high-quality and systematic population-based screening programs to improve screening coverage and service.
Topics: Female; Humans; Breast Neoplasms; Early Detection of Cancer; Mammography; China; Ultrasonography, Mammary; Mass Screening
PubMed: 38321439
DOI: 10.1186/s12905-024-02924-4 -
Ageing Research Reviews Dec 2021The use of digital cognitive tests is getting common nowadays. Older adults or their family members may use online tests for self-screening of dementia. However, the... (Review)
Review
BACKGROUND
The use of digital cognitive tests is getting common nowadays. Older adults or their family members may use online tests for self-screening of dementia. However, the diagnostic performance across different digital tests is still to clarify. The objective of this study was to evaluate the diagnostic performance of digital cognitive tests for MCI and dementia in older adults.
METHODS
Literature searches were systematically performed in the OVID databases. Validation studies that reported the diagnostic performance of a digital cognitive test for MCI or dementia were included. The main outcome was the diagnostic performance of the digital test for the detection of MCI or dementia.
RESULTS
A total of 56 studies with 46 digital cognitive tests were included in this study. Most of the digital cognitive tests were shown to have comparable diagnostic performances with the paper-and-pencil tests. Twenty-two digital cognitive tests showed a good diagnostic performance for dementia, with a sensitivity and a specificity over 0.80, such as the Computerized Visuo-Spatial Memory test and Self-Administered Tasks Uncovering Risk of Neurodegeneration. Eleven digital cognitive tests showed a good diagnostic performance for MCI such as the Brain Health Assessment. However, all the digital tests only had a few validation studies to verify their performance.
CONCLUSIONS
Digital cognitive tests showed good performances for MCI and dementia. The digital test can collect digital data that is far beyond the traditional ways of cognitive tests. Future research is suggested on these new forms of cognitive data for the early detection of MCI and dementia.
Topics: Aged; Cognitive Dysfunction; Dementia; Early Diagnosis; Humans; Mass Screening; Neuropsychological Tests
PubMed: 34744026
DOI: 10.1016/j.arr.2021.101506 -
Genetics in Medicine : Official Journal... Jun 2022Interventions that decrease barriers and improve clinical processes can increase patient access to guideline-recommended cancer genetics services. We sought to identify... (Review)
Review
PURPOSE
Interventions that decrease barriers and improve clinical processes can increase patient access to guideline-recommended cancer genetics services. We sought to identify and describe interventions to improve patient receipt of guideline-recommended cancer genetics services in the United States.
METHODS
We performed a comprehensive search in Ovid MEDLINE and Embase, Scopus, and Web of Science from January 1, 2000 to February 12, 2020. Eligible articles reported interventions to improve the identification, referral, genetic counseling (GC), and genetic testing (GT) of patients in the United States. We independently screened titles and abstracts and reviewed full-text articles. Data were synthesized by grouping articles by clinical process.
RESULTS
Of 44 included articles, 17 targeted identification of eligible patients, 14 targeted referral, 15 targeted GC, and 16 targeted GT. Patient identification interventions included universal tumor testing and screening of medical/family history. Referral interventions included medical record system adaptations, standardizing processes, and provider notifications. GC interventions included supplemental patient education, integrated GC within oncology clinics, appointment coordination, and alternative service delivery models. One article directly targeted the GT process by implementing provider-coordinated testing.
CONCLUSION
This scoping review identified and described interventions to improve US patients' access to and receipt of guideline-recommended cancer genetics services.
Topics: Delivery of Health Care; Genetic Counseling; Genetic Testing; Humans; Mass Screening; Neoplasms; United States
PubMed: 35389342
DOI: 10.1016/j.gim.2022.03.002