469 hot topic(s) found with the query "Systematic review"
Adherence to the Mediterranean diet can beneficially affect the gut microbiota composition: a systematic review
(Posted: Apr 19, 2024 10AM)
From the abstract: "Dietary patterns could have a notable role in shaping gut microbiota composition. Evidence confirms the positive impact of the Mediterranean diet (MD), as one of the most studied healthy dietary patterns, on the gut microbiota profile. We conducted this systematic review to investigate the results of observational studies and clinical trials regarding the possible changes in the gut microbiota composition, metabolites, and clinical outcomes following adherence to MD in healthy cases or patients suffering from metabolic disorders. "
Reporting guidelines in medical artificial intelligence: a systematic review and meta-analysis
F Kolbinger et al, Comm Med, April 11, 2024
(Posted: Apr 12, 2024 9AM)
From the abstract: "AI reporting guidelines for medical research vary with respect to the quality of the underlying consensus process, breadth, and target research phase. Some guideline items such as reporting of study design and model performance recur across guidelines, whereas other items are specific to particular fields and research stages. Our analysis highlights the importance of reporting guidelines in clinical AI research and underscores the need for common standards that address the identified variations and gaps in current guidelines. Overall, this comprehensive overview could help researchers and public stakeholders reinforce quality standards for increased reliability, reproducibility, clinical validity, and public trust in AI research in healthcare. "
Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
J Chiang et al, NPJ Genomic Medicine, April 5, 2024
(Posted: Apr 04, 2024 9AM)
From the abstract: " Despite growing efforts targeted at improving cascade testing uptake, current literature continues to reflect poor rates of uptake, typically below 30%. This study aims to systematically review current literature on intervention strategies to improve cascade testing, assess the quality of intervention descriptions and evaluate the implementation outcomes of listed interventions. This systematic review shows that most interventions have demonstrated success in improving cascade testing uptake. Uptake of cascade testing was highest with delivery arrangement (68%). However, the quality of description of interventions and assessment of implementation outcomes are often suboptimal, hindering their replication and implementation downstream."
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugs.
Lisanne E N Manson et al. Eur J Hum Genet 2024 4
(Posted: Apr 04, 2024 9AM)
From the abstract: "This guideline outlines the gene-drug interaction of CYP2C9 and HLA-B with phenytoin, HLA-A and HLA-B with carbamazepine and HLA-B with oxcarbazepine and lamotrigine. A systematic review was performed and pharmacotherapeutic recommendations were developed. For CYP2C9 intermediate and poor metabolisers, the DPWG recommends lowering the daily dose of phenytoin and adjust based on effect and serum concentration after 7–10 days. For HLA-B*15:02 carriers, the risk of severe cutaneous adverse events associated with phenytoin, carbamazepine, oxcarbazepine, and lamotrigine is strongly increased. For carbamazepine, this risk is also increased in HLA-B*15:11 and HLA-A*31:01 carriers. For HLA-B*15:02, HLA-B*15:11 and HLA-A*31:01 positive patients, the DPWG recommends choosing an alternative anti-epileptic drug. "
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.
Enrica Marchionni et al. Eur J Hum Genet 2024 3
(Posted: Mar 18, 2024 9AM)
From the abstract: "Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray analysis (CMA) in fetal structural anomalies. Optimized indications and detection rates in different fetal anomalies are still under investigation. The aim of this study was to assess the incremental diagnostic yield in prenatally diagnosed Central Nervous System (CNS) anomalies. Meta-analysis showed a substantial diagnostic improvement in performing Prenatal Genome-Wide Sequencing analysis (Exome or Genome) over karyotype and CMA in CNS anomalies. "
Racial and ethnic disparities in genomic testing among lung cancer patients: a systematic review.
Clare Meernik et al. J Natl Cancer Inst 2024 2
(Posted: Feb 11, 2024 10AM)
From the abstract: "We conducted a systemic review to examine racial and ethnic disparities in the use of genomic testing among lung cancer patients in the U.S. Two comprehensive searches in PubMed, Embase, and Scopus were conducted (September 2022, May 2023). Original studies that assessed rates of genomic testing by race or ethnicity were included. A majority of studies, though not all, observed racial and ethnic disparities in the use of genomic testing among patients with lung cancer. Heterogeneity of study results throughout a period of changing clinical guidelines suggests that minoritized populations—Black patients in particular—have faced additional barriers to genomic testing."
Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review.
Clara Marquina et al. Pharmacoeconomics 2024 1
(Posted: Jan 30, 2024 10AM)
From the abstract: "A total of 21 studies evaluating 62 strategies were included in this review, most of the studies (95%) adopted a healthcare perspective in the base case, and majority were set in high-income countries. Strategies analysed included cascade screening (23 strategies), opportunistic screening (13 strategies), systematic screening (11 strategies) and population-wide screening (15 strategies). Most of the strategies relied on genetic diagnosis for case ascertainment. Based on reported willingness to pay thresholds for each setting, most CEA studies concluded that screening for FH compared with no screening was cost-effective, regardless of the screening strategy. Cascade screening resulted in the largest health benefits per person tested. "
Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis
A Ahmad et al, Com Med January 22, 2024
(Posted: Jan 22, 2024 8AM)
From the abstract: " We conducted a systematic review and meta-analysis of longitudinal studies to identify potentially novel prognostic factors that may improve CVD risk prediction in T2D. Out of 9380 studies identified, 416 studies met inclusion criteria. Outcomes were reported for 321 biomarker studies, 48 genetic marker studies, and 47 risk score/model studies."
Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II.
Mirthe J Klein Haneveld et al. Genet Med 2024 1 101071
(Posted: Jan 15, 2024 10AM)
From the abstract: "70 internationally published guidelines, addressing the diagnosis and/or management of 28 conditions, were included. The methodological rigor of development was highly variable with limited reporting of literature searches and consensus methods. Comprehensive, high-quality guidelines are lacking for many rare genetic neurodevelopmental disorders. Use and transparent reporting of sound development methodologies, active involvement of affected individuals and families, robust conflict of interest procedures, and attention to implementation are vital for enhancing the impact of clinical practice recommendations."
Opportunities and limitations of genomics for diagnosing bedaquiline-resistant tuberculosis: a systematic review and individual isolate meta-analysis
C Nimmo et al, Lancet Microbe, January 9, 2024
(Posted: Jan 10, 2024 8AM)
From the abstract: "Clinical bedaquiline resistance predominantly involves mutations in mmpR5 (Rv0678). However, mmpR5 resistance-associated variants (RAVs) have a variable relationship with phenotypic Mycobacterium tuberculosis resistance. We did a systematic review to assess the maximal sensitivity of sequencing bedaquiline resistance-associated genes and evaluate the association between RAVs and phenotypic resistance, using traditional and machine-based learning techniques. "
Systematic review and meta-analysis of AI-based conversational agents for promoting mental health and well-being
H Li, NPJ Digital Medicine, December 19, 2023
(Posted: Dec 20, 2023 9AM)
From the abstract: "Conversational artificial intelligence (AI), particularly AI-based conversational agents (CAs), is gaining traction in mental health care. Despite their growing usage, there is a scarcity of comprehensive evaluations of their impact on mental health and well-being. This systematic review and meta-analysis aims to fill this gap by synthesizing evidence on the effectiveness of AI-based CAs in improving mental health and factors influencing their effectiveness and user experience. "
Epigenome-wide association studies of prenatal maternal mental health and infant epigenetic profiles: a systematic review.
Emily Drzymalla et al. Transl Psychiatry 2023 12 (1) 377
(Posted: Dec 08, 2023 8AM)
From the abstract: "Prenatal stress and poor maternal mental health are associated with adverse offspring outcomes; however, the biological mechanisms are unknown. Epigenetic modification has linked maternal health with offspring development. Epigenome-wide association studies (EWAS) have examined offspring DNA methylation profiles for association with prenatal maternal mental health to elucidate mechanisms of these complex relationships. The objective of this study is to provide a comprehensive, systematic review of EWASs of infant epigenetic profiles and prenatal maternal anxiety, depression, or depression treatment. "
Monogenic etiologies of persistent human papillomavirus infections: a comprehensive systematic review
S Biglari et al, Genetics in Medicine, November 2023
(Posted: Nov 17, 2023 8AM)
From the abstract: " Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital, and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and epidermodysplasia verruciformis, among others. Although more reports of monogenic predisposition to PHPVI have been published with the development of genomic technologies, genetic testing is rarely incorporated into clinical assessments. In this systematic review, we found that PHPVI has at least 83 monogenic etiologies and a genetic diagnosis is essential for effective management."
Digital health tools in genomics: Advancing diversity, equity and inclusion
D Assamad et al, Public Health Genomics, November 2023
(Posted: Nov 02, 2023 9AM)
From the paper: "Patient-facing digital genomic tools are increasingly being used to facilitate the delivery of genetics services including patient intake, phenotyping, education, counseling, and result reporting. A recent systematic review found that digital tools improved the workflow of genetics providers and service efficiencies. Existing data on patient experiences also demonstrate high acceptance of pre-test digital tools across various contexts, with most
patients endorsing and expressing high levels of satisfaction with these tools. However, a closer examination of digital genomic tools reveals a concerning lack of consideration for diversity,
equity, and inclusion (DEI) principles in their design, evaluation, and implementation within health systems [ "
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Justin K Kirkham et al. JAMA Netw Open 2023 10 (10) e2337484
(Posted: Oct 24, 2023 2PM)
From the abstract: " What genetic modifiers of sickle cell disease (SCD) are currently defined, and what are potential approaches to improve future studies?
In this systematic review and meta-analysis of 571 studies examining 29?670 individuals with SCD, 17?757 associations involving 1552 genes and 25 SCD phenotype categories were discovered; of these, only 173 associations met the study design, reporting, and phenotype or genotype harmonization required for meta-analysis. Gene variants regulating fetal hemoglobin and a-thalassemia were frequently identified, but other associations remained unconfirmed."
Specific measures for data-intensive health research without consent: a systematic review of soft law instruments and academic literature.
Julie-Anne R Smit et al. Eur J Hum Genet 2023 10
(Posted: Oct 19, 2023 2PM)
From the abstract: " We performed a systematic review of relevant soft law instruments and academic literature to identify what measures are mentioned in those documents. Our analysis resulted in the identification of four overarching themes of suggested measures: organizational measures; technical measures; oversight and review mechanisms; and public engagement and participation. Some of the suggested measures do not substantially contribute to the clarification of the GDPR’s “suitable and specific measures” requirement because they remain vague or broad in nature and encompass all types of data processing. "
Participant characteristics in the prevention of gestational diabetes as evidence for precision medicine: a systematic review and meta-analysis
S Lim et al, Comm Medicine, October 5, 2023
(Posted: Oct 05, 2023 9AM)
From the abstract: "Precision prevention involves using the unique characteristics of a particular group to determine their responses to preventive interventions. This study aimed to systematically evaluate the participant characteristics associated with responses to interventions in gestational diabetes mellitus (GDM) prevention. GDM prevention through metformin or lifestyle differs according to some individual characteristics. Future research should include trials commencing preconception and provide results disaggregated by a priori defined participant characteristics including social and environmental factors, clinical traits, and other novel risk factors to predict GDM prevention through interventions. "
Genotype-stratified treatment for monogenic insulin resistance: a systematic review
RK Semple et al, Comm Medicine, October 5, 2023
(Posted: Oct 05, 2023 9AM)
From the abstract: " Systematic review using PubMed, MEDLINE and Embase (1 January 1987 to 23 June 2021). Studies reporting individual-level effects of pharmacologic and/or surgical interventions in monogenic IR were eligible. The evidence guiding genotype-specific treatment of monogenic IR is of low to very low quality. Metreleptin and Thiazolidinediones appear to improve metabolic markers in lipodystrophy, and rhIGF-1 appears to lower HbA1c in INSR-related IR. For other interventions, there is insufficient evidence to assess efficacy and risks in aggregated lipodystrophy or genetic subgroups. "
Utility and precision evidence of technology in the treatment of type 1 diabetes: a systematic review
LM Jacobsen et al, Comm Medicine, October 5, 2023
(Posted: Oct 05, 2023 9AM)
From the abstract: "The greatest change in the treatment of people living with type 1 diabetes in the last decade has been the explosion of technology assisting in all aspects of diabetes therapy, from glucose monitoring to insulin delivery and decision making. As such, the aim of our systematic review was to assess the utility of these technologies as well as identify any precision medicine-directed findings to personalize care. "
Systematic review of deep learning image analyses for the diagnosis and monitoring of skin disease.
Shern Ping Choy et al. NPJ Digit Med 2023 9 (1) 180
(Posted: Sep 28, 2023 11AM)
From the abstract: "We searched for studies applying deep learning to skin images, excluding benign/malignant lesions. The primary outcome was accuracy of deep learning algorithms in disease diagnosis or severity assessment. We modified QUADAS-2 for quality assessment. Of 13,857 references identified, 64 were included. The most studied diseases were acne, psoriasis, eczema, rosacea, vitiligo, urticaria. Deep learning algorithms had high specificity and variable sensitivity in diagnosing these conditions. Accuracy of algorithms in diagnosing acne (median 94%, IQR 86–98; n?=?11), rosacea (94%, 90–97; n?=?4), eczema (93%, 90–99; n?=?9) and psoriasis (89%, 78–92; n?=?8) was high. "
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.
Qing Li et al. JAMA Pediatr 2023 9
(Posted: Sep 12, 2023 7AM)
From the abstract: " What is the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) in cases of short stature?
In this study, review of pertinent literature resulted in 10 cohorts comprising 1350 individuals for ES and 14 cohorts including 1070 individuals for CMA in meta-analysis. The diagnostic yield for ES and CMA was determined to be 27.1% and 13.6%, respectively. In this meta-analysis, the findings indicate that ES and CMA may prove useful tools in identifying molecular etiologies underlying short stature in affected individuals."
Systematic Evidence Review and Meta-Analysis of Outcomes associated with Cancer Genetic Counseling
JO Culver et al, Genetics in Medicine, September 6, 2023
(Posted: Sep 06, 2023 11AM)
From the abstract: "We conducted a systematic review and meta-analysis of 17 patient-reported and health services-related outcomes associated with pre- and post-test GC in GCRA in accordance with PRISMA guidelines and GRADE methodology. The true impact of GC on relevant outcomes is not known due to low quality or absent evidence. While a meta-analysis found that pre-test GC had beneficial effects on knowledge, worry and risk perception, the certainty of this evidence was low according to GRADE methodology. "
Screening for Lipid Disorders in Children and Adolescents: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force.
Janelle M Guirguis-Blake et al. JAMA 2023 7 (3) 261-274
(Posted: Jul 21, 2023 9AM)
Lipid screening in childhood and adolescence can lead to early dyslipidemia diagnosis. The long-term benefits of lipid screening and subsequent treatment in this population are uncertain. We reviewed benefits and harms of screening and treatment of pediatric dyslipidemia due to familial hypercholesterolemia (FH) and multifactorial dyslipidemia. We found no direct evidence on the benefits or harms of pediatric lipid screening was identified. While multifactorial dyslipidemia is common, no evidence was found that treatment is effective for this condition. In contrast, FH is relatively rare; evidence shows that statins reduce lipid levels in children with FH, and observational studies suggest that such treatment has long-term benefit for this condition.
Impact of antibiotics on gut microbiome composition and resistome in the first years of life in low- to middle-income countries: A systematic review.
Charlie C Luchen et al. PLoS Med 2023 6 (6) e1004235
(Posted: Jul 03, 2023 8AM)
We systematically collected studies performed in LMIC in children that reported the effects of antibiotics on gut bacteria and profiled their antibiotic resistance genes. Our search revealed a paucity of published studies focusing on this topic and we identified only a handful of eligible studies to include in the review. We compared these studies based on the antibiotic used and differential impacts on gut bacteria, i.e., gut microbiome profiles and/or resistance genes.
We observed that among children in LMIC, antibiotics generally reduced the numbers of bacterial taxa in the gut and increased the number of bacterial taxa with AMR.
Systematic review and meta-analysis of the effectiveness of chatbots on lifestyle behaviours
B Singh et al, NPJ Digital Medicine
(Posted: Jun 24, 2023 10AM)
Nineteen trials were included. Sample sizes ranged between 25–958, and mean participant age ranged between 9–71 years. Most interventions (n?=?15, 79%) targeted physical activity, and most trials had a low-quality rating (n?=?14, 74%). Meta-analysis results showed significant effects (all p?<?0.05) of chatbots for increasing total physical activity (SMD?=?0.28 [95% CI?=?0.16, 0.40]), daily steps (SMD?=?0.28 [95% CI?=?0.17, 0.39]), MVPA (SMD?=?0.53 [95% CI?=?0.24, 0.83]), fruit and vegetable consumption (SMD?=?0.59 [95% CI?=?0.25, 0.93]), sleep duration (SMD?=?0.44 [95% CI?=?0.32, 0.55]) and sleep quality (SMD?=?0.50 [95% CI?=?0.09, 0.90]).
Risk of myocarditis and pericarditis in mRNA COVID-19-vaccinated and unvaccinated populations: a systematic review and meta-analysis.
Abdallah Alami et al. BMJ Open 2023 6 (6) e065687
(Posted: Jun 23, 2023 7AM)
Seven studies met the inclusion criteria, of which six were included in the quantitative synthesis. Our meta-analysis indicates that within 30-day follow-up period, vaccinated individuals were twice as likely to develop myo/pericarditis in the absence of SARS-CoV-2 infection compared to unvaccinated individuals, with a rate ratio of 2.05 (95% CI 1.49-2.82). Although the absolute number of observed myo/pericarditis cases remains quite low, a higher risk was detected in those who received mRNA COVID-19 vaccinations compared with unvaccinated individuals in the absence of SARS-CoV-2 infection.
Host genetic determinants of COVID-19 susceptibility and severity: A systematic review and meta-analysis.
Setegn Eshetie et al. Rev Med Virol 2023 6 e2466
(Posted: Jun 13, 2023 8AM)
The meta-analysis showed that a cluster of highly correlated 9 SNPs (R2 > 0.9) at 3p21.31 gene locus covering LZTFL1 and SLC6A20 genes was significantly associated with COVID-19 severity, with a pooled OR of 1.8 [1.5-2.0]. Meanwhile, another 3 SNPs (rs2531743-G, rs2271616-T, and rs73062389-A) within the locus was associated with COVID-19 susceptibility, with pooled estimates of 0.95 [0.93-0.96], 1.23 [1.19-1.27] and 1.15 [1.13-1.17], respectively.
Digital interventions for genomics and genetics education, empowerment, and service engagement: A systematic review.
Norina Gasteiger et al. J Community Genet 2023 5
(Posted: May 21, 2023 8AM)
Patient-facing digital technologies may reduce barriers to and alleviate the burden on genetics services. However, no work has synthesised the evidence for patient-facing digital interventions for genomics/genetics education and empowerment, or to facilitate service engagement more broadly. It is also unclear which groups have been engaged by digital interventions. This systematic review found insufficient evidence related to empowering patients and engaging underserved communities or consanguineous couples. Future work should focus on co-developing content with end users and incorporating interactive features.
Cost-effectiveness of Pharmacogenomic Testing: How to Measure the Value of Having the Right Dose of the Right Drug for the Right Patient
L Shi et al, CDC Blog Post, May 8, 2023
(Posted: May 08, 2023 4PM)
A recent systematic review that assessed the cost-effectiveness of pharmacogenetic testing for drugs with existing guidelines concluded that most studies favored pharmacogenomic testing. The significance of this conclusion must be interpreted with caution and in the context of study factors, such as funding sources, geography, cohort, and the cost-effectiveness comparisons being made.
Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.
Emily G Miller et al. JAMA Netw Open 2023 5 (5) e2310367
(Posted: May 06, 2023 7AM)
n this systematic review of 52 studies with 13?251 eligible participants, sex or gender was the most frequently reported demographic characteristic, followed by race and ethnicity, education, and income. Participants were disproportionately women or female (71%), White (76%), had a college degree or higher education (65%), and reported income above the US median (67%). These findings suggest that the current literature on the personal utility of genetics and genomics underrepresents the perspectives of individuals with diverse demographic backgrounds.
Systematic review and meta-analysis of performance of wearable artificial intelligence in detecting and predicting depression
AA AlRazak et al, NPJ Digital Medicine, May 5, 2023
(Posted: May 05, 2023 10AM)
AI is a promising tool for depression detection and prediction although it is in its infancy and not ready for use in clinical practice. Until further research improve its performance, wearable AI should be used in conjunction with other methods for diagnosing and predicting depression. Further studies are needed to examine the performance of wearable AI based on a combination of wearable device data and neuroimaging data and to distinguish patients with depression from those with other diseases.
Knowledge and attitudes of medical and pharmacy students about pharmacogenomics: a systematic review and meta-analysis.
Chen Li et al. Pharmacogenomics J 2023 5
(Posted: May 05, 2023 10AM)
Fifteen studies (5509 students; 69% [95% confidence interval (CI): 60%, 77%] females) were included. Among students, 28% [95%CI: 12, 46] had adequate PGx knowledge; 65% [95%CI: 55, 75] were willing to have PGx test for their own risk assessment; 78% [95%CI: 71, 84] had intention to incorporate PGx in future practice; and 32% [95%CI: 21, 43] were satisfied with current PGx component of curriculum. Age, advanced year of educational program, and more time spent in PGx education were positively associated with PGx knowledge and positive attitudes.
Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes
MD Ahsan et al, EJHG, April 28, 2023
(Posted: Apr 28, 2023 8AM)
Mathematical modeling suggests that the combination of germline genetic testing at time of cancer diagnosis with subsequent cascade testing of at-risk relatives has the potential to identify all individuals with a cancer predisposing pathogenic variant in the United States in less than a decade [4]. However, our recent systematic review demonstrates that only about a third of at-risk relatives undergo recommended cascade testing.
Precision Medicine in Oral Health and Diseases: A Systematic Review
G Malcangi et al, J Per Med, April 25, 2023
(Posted: Apr 25, 2023 7AM)
Precision medicine (PM) is personalized medicine that can develop targeted medical therapies for the individual patient, in which “omics” sciences lead to an integration of data that leads to highly predictive models of the functioning of the individual biological system. They enable rapid diagnosis, assessment of disease dynamics, identification of targeted treatment protocols, and reduction of costs and psychological stress. “Precision dentistry” (DP) is one promising application that need further investigation; the purpose of this paper is therefore to give physicians an overview of the knowledge they need to enhance treatment planning and patient response to therapy.
Digital cognitive behavioral therapy for insomnia on depression and anxiety: a systematic review and meta-analysis
S Lee et al, NPJ Digital Medicine, March 25, 2023
(Posted: Mar 25, 2023 8AM)
Despite research into the development of digital cognitive behavioral therapy for insomnia (dCBT-I), research into the outcomes of dCBT-I on insomnia and the associated clinical conditions of depression and anxiety have been limited. The PubMed, PsycINFO (Ovid), Embase, and Cochrane databases were searched for randomized controlled trials (RCTs) on adult patients with insomnia also having reported measures of depressive or anxiety symptoms. We found that digital intervention for insomnia yielded significant effects on alleviating depressive and anxiety symptoms as well as insomnia symptoms. Specifically, the study demonstrated significant effects on the above symptoms when considering treatment adherence and implementing fully automated dCBT-I.
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Pedro J Gonzalez-Mantilla et al. JAMA pediatrics 2023 3
(Posted: Mar 07, 2023 6PM)
Is the diagnostic yield of exome or genome sequencing in cerebral palsy similar to that of other neurodevelopmental disorders for which exome sequencing is recommended as a first-tier clinical diagnostic test? In this systematic review and meta-analysis that included 13 studies and 2612 individuals with cerebral palsy, the diagnostic yield of exome or genome sequencing was 31.1%, which is similar to that of other neurodevelopmental disorders, regardless of comorbid intellectual disability/developmental delay.
The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis
Y Teng et al, J Per Med, March 4, 2023
(Posted: Mar 04, 2023 8AM)
The inadequate efficacy and adverse effects of antipsychotics severely affect the recovery of patients with schizophrenia spectrum disorders (SSD). We report the evidence for associations between pharmacogenetic (PGx) variants and antipsychotics outcomes, including antipsychotic response, antipsychotic-induced weight/BMI gain, metabolic syndrome, antipsychotic-related prolactin levels, antipsychotic-induced tardive dyskinesia (TD), clozapine-induced agranulocytosis (CLA), and drug concentration level (pharmacokinetics) in SSD patients.
Application of comprehensive evaluation framework to Coronavirus Disease 19 studies: A systematic review of translational aspects of artificial intelligence in health care
AE Casey et al, MEDRXIV, February 26, 2023
(Posted: Feb 28, 2023 6AM)
Implementation costs of hospital-based computerised decision support systems: a systematic review.
Thomasina Donovan et al. Implementation science : IS 2023 2 (1) 7
(Posted: Feb 27, 2023 9AM)
Implementation costs were most frequently reported under the ‘evaluative and iterative strategies’ cluster, followed by ‘provide interactive assistance’. Labour was the largest implementation-related cost in the included papers, irrespective of implementation strategy. Other reported costs included consumables, durable assets and physical space, which was mostly associated with stakeholder training. The methods used to cost implementation were often unclear. There was variation across studies in the overall quality of reporting.
Predictive models in emergency medicine and their missing data strategies: a systematic review.
Emilien Arnaud et al. NPJ digital medicine 2023 2 (1) 28
(Posted: Feb 26, 2023 8AM)
In the field of emergency medicine (EM), the use of decision support tools based on artificial intelligence has increased markedly in recent years. In some cases, data are omitted deliberately and thus constitute “data not purposely collected” (DNPC). This accepted information bias can be managed in various ways: dropping patients with missing data, imputing with the mean, or using automatic techniques (e.g., machine learning) to handle or impute the data. Here, we systematically reviewed the methods used to handle missing data in EM research.
Effectiveness of SARS-CoV-2 Vaccines against Omicron Infection and Severe Events: A Systematic Review and Meta-Analysis of Test-Negative Design Studies
S Song et al, MEDRXIV, February 17, 2023
(Posted: Feb 20, 2023 7AM)
One or two booster doses of current SARS-CoV-2 vaccines provide considerable protection against Omicron infection and substantial and sustainable protection against Omicron-induced severe clinical outcomes.
A systematic review of economic evaluations of whole-genome sequencing for the surveillance of bacterial pathogens.
Vivien Price et al. Microbial genomics 2023 2 (2)
(Posted: Feb 17, 2023 9AM)
Six hundred and eighty-one articles were identified, of which 49 proceeded to full-text screening, with 9 selected for inclusion. All had been published since 2019. Heterogeneity was high. Five studies assessed WGS for hospital surveillance and four analyzed foodborne pathogens. Four were cost-benefit analyses, one was a cost-utility analysis, one was a cost-effectiveness analysis, one was a combined cost-effectiveness and cost-utility analysis, one combined cost-effectiveness and cost-benefit analyses and one was a partial analysis. All studies supported the use of WGS as a surveillance tool on economic grounds.
Defining genomic, transcriptomic, proteomic, epigenetic, and phenotypic biomarkers with prognostic capability in male breast cancer: a systematic review.
Subarnarekha Chatterji et al. The Lancet. Oncology 2023 2 (2) e74-e85
(Posted: Feb 03, 2023 7AM)
We identified knowledge gaps in the existing literature, discussed limitations of the included studies, and outlined potential approaches for translational biomarker discovery and validation in male breast cancer. We also recognized STC2, DDX3, and DACH1 as underexploited markers of male-specific prognostic value in breast cancer.
An innovative framework to determine the implementation level of personalized medicine: A systematic review
LA Cobos et al, Front in Public Health, February 3, 2023
(Posted: Feb 03, 2023 7AM)
Personalized medicine (PM) is now the new frontier in patient care. The application of this new paradigm extends to various pathologies and different patient care phases, such as diagnosis and treatment. Translating biotechnological advances to clinical routine means adapting health services at all levels is necessary.
This article aims to identify the elements for devising a framework that will allow the level of PM implementation in the country under study to be quantitatively and qualitatively assessed and that can be used as a guideline for future implementation plans.
Immunogenicity, Safety and Effectiveness of COVID-19 Pfizer-BioNTech (BNT162b2) mRNA Vaccination in Immunocompromised Adolescents and Young Adults: A systematic Review and Meta-Analyses
P Katoto et al, MEDRXIV, January 20, 2023
(Posted: Jan 22, 2023 8AM)
The overall estimated proportion of combined local and systemic reactions after the first BNT162b2 vaccination was 30%[95% CI: 17-42%] and slightly rose to 32% [95% CI: 19-44%] after the second dose. Rheumatic illnesses had the highest rate of AEFI (40%[95% CI: 16-65%]), while cystic fibrosis had the lowest (27%[95% CI: 17%-38%]). Hospitalizations for AEFIs were rare.
Protective effectiveness of previous SARS-CoV-2 infection and hybrid immunity against the omicron variant and severe disease: a systematic review and meta-regression
N Bobrovitz et al, Lancet Infectious Diseases, January 18, 2023
(Posted: Jan 20, 2023 6AM)
All estimates of protection waned within months against reinfection but remained high and sustained for hospital admission or severe disease. Individuals with hybrid immunity had the highest magnitude and durability of protection, and as a result might be able to extend the period before booster vaccinations are needed compared to individuals who have never been infected.
Editorial: Digitalization for precision healthcare
F Cascini et al, Front Public Health, December 2022
(Posted: Dec 21, 2022 8AM)
The creation of digital infrastructure and technologies to collect, analyse and connect electronic health and life-science data supports—now more than ever—the growth of precision healthcare. However, the current adoption of digital health tools and infrastructures is geographically variable and often missing an assessment, as shown in a systematic review of the cost-effectiveness of digital interventions. This lacking approach to the digitalisation of the health sector has the effect of wasting resources with no improvement in care.
Prevalence of Olfactory Dysfunction with the Omicron Variant of SARS-CoV-2: A Systematic Review and Meta-analysis
CS von Bartheld et al, MEDRXIV, December 16, 2022
(Posted: Dec 17, 2022 9AM)
Our estimate of the omicron-induced prevalence of olfactory dysfunction in populations of European ancestry is 11.6%, while it is significantly lower in all other populations, at 2.9-5.4%. When ethnic differences and population sizes are taken into account, the global prevalence of omicron-induced hyposmia in adults is estimated at 5.2%. Omicron's effect on olfaction is 3-4fold lower than that of the alpha or delta variant,
Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review
H Massey et al, J Community Genetics, December 13, 2022
(Posted: Dec 15, 2022 8AM)
Four themes were identified as important when using education to improve treatment adherence: involving family, patient empowerment, practical problem solving and use of information leaflets. Educational interventions improve short term treatment adherence in patients with FH. Successful interventions are those that involve the whole family, set practical problem solving tasks, and that use techniques to increase the patients self-efficacy.
A systematic review and meta-analysis comparing the diagnostic accuracy tests of COVID-19
JJV Alosilla et al, MEDRXIV, November 29, 2022
(Posted: Nov 30, 2022 8AM)
Molecular tests [Reverse transcription polymerase chain reaction (RT-PCR), reverse transcription loop-mediated isothermal amplification (RT-LAMP), and clustered regularly interspaced short palindromic repeats (CRISPR)] showed better performance in terms of sensitivity and specificity when compared to serological tests.
Systematic review of economic evaluations for internet- and mobile-based interventions for mental health problems
F Kahlke et al, NPJ Digital Medicine, November 2022
(Posted: Nov 28, 2022 11AM)
Of the 4044 studies, 36 economic evaluations were reviewed. Guided IMIs were likely to be cost-effective in depression and anxiety. The quality of most evaluations was good, albeit with some risks of bias. Heterogeneity across studies was high because of factors such as different costing methods, design, comparison groups, and outcomes used. IMIs for anxiety and depression have potential to be cost-effective. However, more research is needed into unguided (preventive) IMIs with active control conditions (e.g., treatment as usual) and longer time horizon across a wider range of disorders.
Efficacy, Effectiveness and Safety of Vaccines Against COVID-19 for Children Aged 5-11 Years: A Living Systematic Review with Meta-Analysis
V Piechota et al, SSRN, November 18, 2022
(Posted: Nov 19, 2022 7AM)
VE against pre-Omicron variant SARS-CoV-2 infections was 73·0% (41%-87%, 1 RCT, CoE: moderate), while VE against Omicron variant SARS-CoV-2 infections was 41·9% (27·4%-53·5%, 6 non-randomized studies of interventions [NRSIs], CoE: moderate). Pre-Omicron VE against symptomatic COVID-19 was 86·7% (58·1-95·8%, 2 RCTs, CoE: moderate) and 38·7% (21·7%-52·1%, 5 NRSIs, CoE: moderate) after Omicron emergence.
Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis
R Stevelink et al, EBiomedicine, November 11, 2022
(Posted: Nov 13, 2022 6AM)
We found nine independent predictors of drug resistance: three seizure types, psychiatric comorbidities, catamenial epilepsy, epileptiform focality, ethnicity, history of CAE, family history of epilepsy, status epilepticus, and febrile seizures. Internal-external cross-validation of our multivariable model showed an area under the receiver operating characteristic curve of 0·70 (95%CI 0·68–0·72). Recurrence of seizures after ASM withdrawal (n = 368) was predicted by an earlier age at the start of withdrawal, shorter seizure-free interval and more currently used ASMs.
Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: A systematic review.
Wallingford Courtney K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 11
(Posted: Nov 03, 2022 8AM)
In total, 28 articles, representing 17 studies in several disease settings were identified. There was limited consistency in PGS communication and evaluation/reporting of outcomes. Most studies (n = 14) presented risk in multiple ways (ie, numerically, verbally, and/or visually). Three studies provided personalized lifestyle advice and additional resources. Only 1 of 17 studies reported using behavior change theory to inform their PGS intervention.
Our findings call for development of best communication practices and evidence-based interventions informed by behavior change theories.
Bell's Palsy Following SARS-CoV-2 Vaccines: A Systematic Review and Meta-Analysis
A Rafati et al, MEDRXIV, October 26, 2022
(Posted: Oct 27, 2022 9AM)
Our meta-analysis suggests a higher incidence of BP among vaccinated vs. placebo groups. BP occurrence did not significantly differ between Pfizer/BioNTech and Oxford/AstraZeneca vaccines. SARS-CoV-2 infection posed a significantly greater risk for BP than SARS-CoV-2 vaccines.
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy A Systematic Review and Meta-analysis
S Srivastava et al, JAMA Neurology, October 24, 2022
(Posted: Oct 24, 2022 0PM)
What is the molecular diagnostic yield of exome sequencing and chromosomal microarray for cerebral palsy (CP)? Through a systematic review and meta-analysis of 15 exome-sequencing and 5 chromosomal microarray CP study cohorts comprising 2419 individuals from 11 articles and 294 individuals from 5 articles, respectively, the molecular diagnostic yield of these technologies was found to be 23% and 5%, respectively.
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review
AL Young et al, EJHG, October 17, 2022
(Posted: Oct 17, 2022 7AM)
Intervention delivery modes included genetic counselling with additional telephone or in-person follow-up, letters, videos, and decision aids. The percentages of at-risk relatives informed by the proband about their risk ranged from 54.0% to 95.5% in the intervention or family-mediated comparison group. Of those who were informed, 24.4–60.0% contacted a genetics clinic and 22.8–76.2% had genetic testing after they were counselled at a genetics clinic.
Wastewater Surveillance for Infectious Disease: A Systematic Review.
Kilaru Pruthvi et al. American journal of epidemiology 2022 10
(Posted: Oct 16, 2022 7AM)
Herein we identify what infectious diseases have been previously studied via wastewater surveillance prior to the COVID-19 pandemic. Infectious diseases and pathogens were identified in 100 studies of wastewater surveillance across 38 countries, as well as themes of how wastewater surveillance and other measures of disease transmission were linked. Twenty-five separate pathogen families were identified in the included studies.
HIV Prevention: Digital Health Interventions to Improve Adherence to HIV Pre-Exposure Prophylaxis
The Community Guide, October 2022
(Posted: Oct 13, 2022 6AM)
The Community Preventive Services Task Force (CPSTF) recommends digital health interventions to increase adherence to HIV pre-exposure prophylaxis (PrEP). Systematic review evidence shows interventions improve both daily-use pill taking and retention in PrEP care. This improves health for population groups who are not infected with HIV and engage in behaviors that may increase their chances of getting HIV.
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns
MF Martins et al, EJHG, October 12, 2022
(Posted: Oct 12, 2022 8AM)
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.
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
A Tluzcek et al, IJNS, September 2022
(Posted: Oct 04, 2022 9AM)
Psychosocial consequences of receiving unexpected neonatal screening results and unsolicited genetic information remain significant risks to expansion of NBS. Findings suggest that risks may be mitigated by improved parent NBS education, effective communication, individualized genetic counseling, and anticipatory developmental guidance. Clinicians need to take extra measures to ensure equitable service delivery to marginalized subpopulations.
Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis
AK Al Mekkawi et al, J Per Med, September 28, 2022
(Posted: Sep 30, 2022 7AM)
We reviewed the literature for all papers discussing both NTDs and SNPs in the folate pathway. Data were represented through five different genetic models. Quality assessment was performed using the Newcastle–Ottawa Scale (NOS) and Cohen’s Kappa inter-rater coefficient assessed author agreement. Fifty-nine papers were included. SNPs in MTHFR, MTRR, RFC genes were found to be highly associated with NTD risk. NOS showed that high quality papers were selected, and Kappa Q-test was 0.86. Our combined results support the notion that SNPs significantly influence NTDs across the population, particularly in Asian ethnicity.
A systematic review of digital and face-to-face cognitive behavioral therapy for depression
NPJ Digital Medicine, September 15, 2022
(Posted: Sep 15, 2022 7AM)
Application of Artificial Intelligence Techniques to Predict Risk of Recurrence of Breast Cancer: A Systematic Review
C Mazo et al, J Per Med, September 13, 2022
(Posted: Sep 14, 2022 3AM)
This review found three areas that require further work. First, there is no agreement on artificial intelligence methodologies, feature predictors, or assessment metrics. Second, issues such as sampling strategies, missing data, and class imbalance problems are rarely addressed or discussed. Third, representative datasets for breast cancer recurrence are scarce, which hinders model validation and deployment. We conclude that predicting breast cancer recurrence remains an open problem despite the use of artificial intelligence.
Beta-Thalassemia minor and SARS-CoV-2, prevalence, severity, morbidity and mortality: a systematic review study
E Lansiaux et al, MEDRXIV, September 2, 2022
(Posted: Sep 04, 2022 8AM)
Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate
KH van der Pol et al, EJHG, September 2, 2022
(Posted: Sep 02, 2022 9AM)
This guideline describes the gene-drug interaction of ABCG2 with allopurinol, HLA-B with allopurinol, MTHFR with folic acid, and MTHFR with methotrexate, relevant for the treatment of gout, cancer, and rheumatoid arthritis. A systematic review was performed based on which pharmacotherapeutic recommendations were developed.
A Systematic Review of Polygenic Models for Predicting Drug Outcomes
A Siemens et al, J Per Med, August 29, 2022
(Posted: Aug 30, 2022 7AM)
The search uncovered 89 papers that incorporated pharmacogenetic variants in the development of polygenic models. It was found that the most common polygenic models were constructed for drug dosing predictions in anticoagulant therapies (n = 27). While nearly all studies found a significant association with their polygenic model and the investigated drug outcome (93.3%), less than half (47.2%) compared the performance of the polygenic model against clinical predictors, and even fewer (40.4%) sought to validate model predictions in an independent cohort.
Susceptibility and infectiousness of SARS-CoV-2 in children versus adults, by variant (wild-type, Alpha, Delta): a systematic review and meta-analysis of household contact studies
O Uthman et al, MEDRXIV< September 26, 2022
(Posted: Aug 27, 2022 6AM)
Study: Incubation times of SARS-CoV-2 variants fell over time
CIDRAP, University of Minnesota, August 22, 2022
(Posted: Aug 23, 2022 1PM)
As the dominant circulating strain of SARS-CoV-2 evolved from Alpha to Omicron, the incubation period from infection to symptoms or first positive COVID-19 test result gradually decreased, from 5 to 3.4 days, according to a systematic review and meta-analysis published today. The incubation period is the time from exposure to a pathogen like a virus to the time of first symptoms of the disease that the pathogen causes.
Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review
J Gereis et al, EJHG, August 23, 2022
(Posted: Aug 23, 2022 8AM)
We found parents had mixed understanding of the nature of potential secondary findings, and of issues related to data privacy, confidentiality, and usage of sequencing results beyond their child’s clinical care. Genetic counseling consultations improved understanding. Our synthesis indicates that ES/GS can be challenging for families to understand and underscores the importance of equipping healthcare professionals to explore parents’ understanding of ES/GS and the implications of testing for their child.
COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.
Drzymalla Emily et al. Clinical immunology (Orlando, Fla.) 2022 8 109097
(Posted: Aug 22, 2022 6AM)
We performed a systematic review on COVID-19-associated morbidity and mortality in people with PI. Of the 1114 articles identified through the literature search, we included 68 articles in the review after removing 1046 articles because they were duplicates, did not involve COVID-19, did not involve PI, were not in English, were commentaries, or could not be accessed. The 68 articles included outcomes for 459 people with PI and COVID-19. Using data from these 459 people, we calculated a case fatality rate of 9%, hospitalization rate of 49%, and oxygen supplementation rate of 29%. Studies have indicated that a number of people with PI showed at least some immune response to COVID-19 vaccination, with responses varying by type of PI and other factors.
The diagnostic and triage accuracy of digital and online symptom checker tools: a systematic review
W Wallace et al, NPJ Digital Medicine, August 18, 2022
(Posted: Aug 18, 2022 1PM)
Researchers evaluated the accuracy of symptom checkers using a variety of medical conditions, including ophthalmological conditions, inflammatory arthritides and HIV. The diagnostic accuracy of the primary diagnosis was low across included studies (range: 19–37.9%) and varied between individual symptom checkers, despite consistent symptom data input. Triage accuracy (range: 48.8–90.1%) was typically higher than diagnostic accuracy. Overall, the diagnostic and triage accuracy of symptom checkers are variable and of low accuracy.
Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.
Callahan Katharine Press et al. JAMA network open 2022 8 (8) e2225980
(Posted: Aug 15, 2022 7PM)
In this systematic review of 21 studies including 1654 infants, utility was heterogeneously measured and reported but generally fit into 5 categories: treatment change, redirection of care, prognostic information, reproductive information, and screening or subspecialty referral. Measurement of utility was inconsistent, focused on documenting change rather than assessing meaningful benefit, and omitted patient-reported benefits, utility of negative or uncertain results, and disutility (harms).
The cost-effectiveness of digital health interventions: A systematic review of the literature
A Gentili et al, Front Public Health, August 2022
(Posted: Aug 11, 2022 7AM)
The studies were heterogeneous by country (mostly conducted in upper and upper-middle income countries), type of eHealth intervention, method of implementation, and reporting perspectives. The qualitative analysis identified the economic and effectiveness evaluation of six different types of interventions: (1) seventeen studies on new video-monitoring service systems; (2) five studies on text messaging interventions; (3) five studies on web platforms and digital health portals; (4) two studies on telephone support; (5) three studies on new mobile phone-based systems and applications; and (6) three studies on digital technologies and innovations.
Tools for assessing quality and risk of bias in Mendelian randomization studies: a systematic review.
Spiga Francesca et al. International journal of epidemiology 2022 7
(Posted: Aug 06, 2022 7AM)
We present an overview of tools and methods to assess risk of bias/quality of evidence in MR analysis. Issues commonly addressed relate to the three standard assumptions of instrumental variables analyses, the choice of genetic instrument(s) and features of the population(s) from which the data are collected (particularly in two-sample MR), in addition to more traditional non-MR-specific epidemiological biases. The identified tools should be tested and validated for general use before recommendations can be made on their widespread use.
Diagnostic accuracy of telemedicine for detection of surgical site infection: a systematic review and meta-analysis
R Lathan et al, NPJ Digital Medicine, August 3, 2022
(Posted: Aug 03, 2022 6AM)
Summary sensitivity and specificity was 87.8% (95% CI, 68.4–96.1) and 96.8% (95% CI 93.5–98.4) respectively. The overall surgical site infection (SSI) rate was 5.6%. Photograph methods had lower sensitivity and specificity at 63.9% (95% CI 30.4–87.8) and 92.6% (95% CI, 89.9–94.5). Telemedicine is highly specific for SSI diagnosis is highly specific, giving rise to great potential for utilisation excluding SSI.
Cardiovascular safety of COVID-19 vaccines in real-world studies: a systematic review and meta-analysis
Y Chang et al, MEDRXIV, August 2, 2022
(Posted: Aug 03, 2022 6AM)
Beta-Thalassemia minor and SARS-CoV-2, prevalence, severity, morbidity and mortality: a systematic review study
E Lansiaux et al, MEDRXIV< July 25, 2022
(Posted: Jul 26, 2022 6AM)
A systematic review of healthcare provider-targeted mobile applications for non-communicable diseases in low- and middle-income countries
P Geldsetzer et al, NPJ Digital Medicine, July 19, 2022
(Posted: Jul 19, 2022 7AM)
Cardiology was the most common clinical domain of the technologies evaluated, with 89 publications. mHealth innovations were predominantly developed using Apple’s iOS operating system. Cost data were provided in only 50 studies, but most technologies for which this information was available cost less than 20 USD. Only 24 innovations targeted the ten NCDs responsible for the greatest number of disability-adjusted life years lost globally. Most publications evaluated products created in high-income countries. Reported mHealth technologies are well-developed, but their implementation in LMICs faces operating system incompatibility and a relative neglect of NCDs causing the greatest disease burden.
Experiences of individuals with a variant of uncertain significance on genetic testing for hereditary cancer risks: a mixed method systematic review.
Gould Danielle et al. Journal of community genetics 2022 7
(Posted: Jul 15, 2022 5AM)
A total of 18 studies met the inclusion criteria. Studies included in this review identified a range of emotional reactions to a VUS result, a general lack of understanding of a VUS result and its implications, frustration with a lack of healthcare provider knowledge, and a need for clear communication with healthcare providers.
Past SARS-CoV-2 Infection Protection Against Reinfection: A Systematic Review and Meta-Analysis
COVID-19 Forecasting Team, SSRN, July 6, 2022
(Posted: Jul 09, 2022 11AM)
Our meta-analyses show that protection from recent infection and any symptomatic disease was high for ancestral, Alpha, Beta, and Delta variants but was substantially lower for the Omicron variant. Pooled effectiveness against reinfection by the Omicron variant was 38.8% (95% uncertainty interval [UI] 31.5–46.3) and 43.7% (18.4–74.4) against Omicron symptomatic disease. Mean pooled effectiveness was greater than 85% against severe disease (hospitalisation and death) for all variants, including Omicron. Protection from reinfection from ancestral, Alpha, and Delta variants declined over time but remained at 78.2% (38.9–95.1) at 40 weeks. Protection against reinfection by the Omicron variant declined more rapidly and was estimated at 29.0% (10.4–64.4) at 40 weeks.
Waning of SARS-CoV-2 vaccine-induced immunity: A systematic review and secondary data analysis
F Menegale et al, MEDRXIV, July 6, 2022
(Posted: Jul 07, 2022 7AM)
Our results show that VE of BNT162b2, mRNA-1273, ChAdOx1 nCoV-19 vaccines against any laboratory confirmed infection with Delta might have been lower than 70% at 9 months from second dose administration. We found a marked immune escape associated with Omicron infection and symptomatic disease, both after the administration of two and three doses. The half-life of protection against symptomatic infection provided by two doses was estimated in the range of 178-456 days for Delta, and between 66 and 73 days for Omicron.
Long distance airborne transmission of SARS-CoV-2: rapid systematic review.
Duval Daphne et al. BMJ (Clinical research ed.) 2022 6 e068743
(Posted: Jun 30, 2022 7AM)
22 reports relating to 18 studies were identified (methodological quality was high in three, medium in five, and low in 10); all the studies were outbreak investigations. Long distance airborne transmission was likely to have occurred for some or all transmission events in 16 studies and was unclear in two studies (GRADE: very low certainty). In the 16 studies, one or more factors plausibly increased the likelihood of long distance airborne transmission, particularly insufficient air replacement (very low certainty), directional air flow (very low certainty), and activities associated with increased emission of aerosols, such as singing or speaking loudly (very low certainty).
Pharmacogenomics of Clozapine-induced agranulocytosis: a systematic review and meta-analysis.
Islam Farhana et al. The pharmacogenomics journal 2022 6
(Posted: Jun 20, 2022 10AM)
Results showed that individuals carrying the HLA-DRB1*04:02 allele had nearly sixfold (95% CI 2.20–15.80, pcorrected?=?0.03) higher odds of CIA with a negative predictive value of 99.3%. Previously unreplicated alleles, TNFb5, HLA-B*59:01, TNFb4, and TNFd3 showed significant associations with CIA after multiple-testing corrections. Our findings suggest that a predictive HLA-DRB1*04:02-based pharmacogenomic test may be promising for clinical implementation but requires further investigation.
Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women.
Bafligil Cemsel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 6
(Posted: Jun 17, 2022 8AM)
We developed PRSs from SNVs identified from a systematic review of published studies and suggestive SNVs from the Endometrial Cancer Association Consortium. These were tested in an independent study of 555 surgically-confirmed endometrial cancer cases and 1202 geographically-matched controls from Manchester, United Kingdom and validated in 1676 cases and 116,960 controls from the UK Biobank (UKBB).
Genomics and Health Equity: Reaching Asian American, Native Hawaiian, and Pacific Islander Communities
Z Chen et al, CDC Blog Post, June 7, 2022
(Posted: Jun 08, 2022 6AM)
While Asian American, Native Hawaiian, and Pacific Islander Heritage Month has ended, we continue to examine the health disparities AA and NHPI communities may experience. Today, we reflect on the disparities in the implementation of genomics and precision medicine. For example, a recent systematic review by Young and colleagues found that Asian American women were less likely to be referred for genetic services than White Non-Hispanic women but were more likely to undergo genetic counseling and genetic testing (GC/GT) for any genetic condition despite the access challenges. The review also revealed that Asian Americans’ family members were less likely to be informed of the results from GT and risk information than other racial groups, although they had been involved in testing decisions.
Global reports of takotsubo (stress) cardiomyopathy following COVID-19 vaccination: a systematic review and meta-analysis
SK Ahmed et al, MEDRXIV, June 7, 2022
(Posted: Jun 08, 2022 6AM)
The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review
L Freeman et al, Genetics in Medicine, June 3, 2022
(Posted: Jun 06, 2022 7AM)
Most studies indicated interest in the use of prenatal diagnosis for deafness. However, there were mixed views, and sometimes strongly held views, expressed regarding the reproductive options that should be available to those with an increased chance of having a child with deafness. Studies were small, from a limited number of countries, and most were too old to include views regarding preimplantation genetic testing.
Barriers and facilitators for population genetic screening in healthy populations: a systematic review
EC Shen et al, Frontiers in Genetics, May 2022
(Posted: Jun 06, 2022 7AM)
Barriers and facilitators to population genetic screening were organized by the Social Ecological Model and further categorized by themes. We found that research in population genetic screening has focused on stakeholder attitudes with all included studies designed to elucidate individuals’ perceptions. Additionally, inadequate knowledge and perceived limited clinical utility presented a barrier for healthcare provider uptake. There were very few studies that conducted long-term follow-up and evaluation of population genetic screening.
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review
P Dixon et al, Genetics in Medicine, May 16, 2022
(Posted: May 16, 2022 10AM)
Despite the positive conclusions of the studies included in this systematic review, it is unclear if polygenic risk stratification will contribute to cost-effective cancer screening given the absence of robust evidence on the costs of polygenic risk stratification, the effects of differential ancestry, potential downstream economic sequalae, and how large volumes of polygenic risk data would be collected and used.
Family history tools for primary care: A systematic review.
Miroševic Špela et al. The European journal of general practice 2022 28(1) 75-86
(Posted: May 10, 2022 8AM)
This review explores the FH tools currently available for PC and evaluates their clinical performance.Five databases were systematically searched until May 2021. Identified tools were evaluated on the following criteria: time-to-complete, integration with electronic health record (EMR) systems, patient administration, risk-assessment ability, evidence-based management recommendations, analytical and clinical validity and clinical utility.We identified 26?PC FH tools. Analytical and clinical validity was poorly reported and agreement between FH and gold standard was commonly inadequately reported and assessed. Sensitivity was acceptable; specificity was found in half of the reviewed tools to be poor. Most reviewed tools showed a capacity to successfully identify individuals with increased risk of disease (6.2-84.6% of high and/or moderate or increased risk individuals).Despite the potential of FH tools to improve risk stratification of patients in PC, clinical performance of current tools remains limited as well as their integration in EMR systems. Twenty-one FH tools are designed to be self-administered by patients.
Effectiveness of Covid-19 vaccines against SARS-CoV-2 Omicron variant (B.1.1.529): A systematic review with meta-analysis and meta-regression
NR Pratama et al, MEDRXIV, May 2, 2022
(Posted: May 03, 2022 7AM)
Compared to full dose only, a booster dose addition provides better protection against B.1.1.529 infection. Although the VE estimates of Ad26.COV2.S, BNT162b2, ChAdOx1 nCov-19, and mRNA-1273 vaccines against B.1.1.529 infection after both full and booster doses are generally moderate, and the booster dose provides excellent protection against severe infection, it is important to note that the VE estimates decline over time, suggesting the need for a regular Covid-19 booster injection after certain period of time to maintain VE.
Personalized Dietary Recommendations Based on Lipid-Related Genetic Variants: A Systematic Review.
Pérez-Beltrán Yolanda E et al. Frontiers in nutrition 2022 4 830283
(Posted: Apr 23, 2022 9AM)
Findings included in this systematic review indicated that a certain percentage of dietary macronutrients, the consumption of specific amounts of polyunsaturated or monounsaturated fatty acids, as well as the ingestion of nutraceuticals or dietary supplements could be considered as potential strategies for the development of a wide range of nutrigenetic interventions since they have a direct impact on the blood levels of lipids.
The performance of wearable sensors in the detection of SARS-CoV-2 infection: a systematic review
M Mitratza et al, Lancet Digital Health, May 2022
(Posted: Apr 22, 2022 1PM)
Of 3196 records identified and screened, 12 articles and 12 study protocols were analysed. Most included articles had a moderate risk of bias, as per the National Institute of Health Quality Assessment Tool for Observational and Cross-Sectional Studies. The accuracy of algorithmic models to detect SARS-CoV-2 infection varied greatly (area under the curve 0·52–0·92). An algorithm's ability to detect presymptomatic infection varied greatly (from 20% to 88% of cases), from 14 days to 1 day before symptom onset. Increased heart rate was most frequently associated with SARS-CoV-2 infection, along with increased skin temperature and respiratory rate. All 12 protocols described prospective studies that had yet to be completed or to publish their results, including two randomised controlled trials. The evidence surrounding wearable devices in the early detection of SARS-CoV-2 infection is still in an early stage.
Pan-cancer prognostic genetic mutations and clinicopathological factors associated with survival outcomes: a systematic review
J Kaubryte et al, NPJ Precision Oncology, April 22, 2022
(Posted: Apr 22, 2022 0PM)
Genetic studies included 210,802 patients and identified 440 gene mutations associated with cancer survival, including genes TP53, BRCA1, BRCA2, BRAF, KRAS, BIRC5. We generated a comprehensive knowledge base of biomarkers that can be used to tailor treatment according to patients’ unique genetic and clinical characteristics. Our pan-cancer investigation uncovers the biomarker landscape and their combined influence that may help guide health practitioners and researchers across the continuum of cancer care from drug development to long-term survivorship.
Systematic review of spontaneous reports of myocarditis and pericarditis in transplant recipients and immunocompromised patients following COVID-19 mRNA vaccination
S Lane et al, MEDRXIV, April 19, 2022
(Posted: Apr 20, 2022 7AM)
Myopericarditis following COVID-19 vaccination and non-COVID-19 vaccination: a systematic review and meta-analysis
RR Ling et al, Lancet Resp Med, April 11, 2022
(Posted: Apr 12, 2022 0PM)
The overall risk of myopericarditis after receiving a COVID-19 vaccine is low. However, younger males have an increased incidence of myopericarditis, particularly after receiving mRNA vaccines. Nevertheless, the risks of such rare adverse events should be balanced against the risks of COVID-19 infection (including myopericarditis).
Reports of myocarditis and pericarditis following mRNA COVID-19 vaccines: A systematic review of spontaneously reported data from the UK, Europe, and the US and of the literature
S Lane et al, MEDRXIV, April 8, 2022
(Posted: Apr 09, 2022 8AM)
Safety of COVID-19 Vaccines During Pregnancy: A Systematic Review and Meta-Analysis
A Ciapponi et al, SSRN, April 1, 2022
(Posted: Apr 04, 2022 2PM)
We retrieved 8,837 records from the search strategy; 71 studies (61 clinical and 10 non-clinical studies, involving 17,719,495 pregnant persons and 389 pregnant animals, respectively) were included. Most studies (94%) were conducted in high-income countries and were cohort studies (51%). Less than 15% of studies were classified as high risk of bias. We identified nine COVID-19 vaccine studies, two preclinical studies, and seven involving 309,164 pregnant persons, mostly exposed to mRNA vaccines. Neither pregnancy outcomes nor reactogenicity exceeded the expected rates. The only exception was postpartum hemorrhage after COVID-19 vaccination reported by two studies. In conclusion, we found no safety concerns for currently administered COVID-19 vaccines during pregnancy.
Developing a shared sepsis data infrastructure: a systematic review and concept map to FHIR
B Brant et al, NPJ Digital Medicine April 4, 2022
(Posted: Apr 04, 2022 10AM)
The Sepsis on FHIR collaboration establishes a dynamic, federated, and interoperable system of sepsis data from 55 hospitals using 2 distinct inpatient electronic health record systems. Here we report on phase 1, a systematic review to identify clinical variables required to define sepsis and its subtypes to produce a concept mapping of elements onto Fast Healthcare Interoperability Resources (FHIR). Relevant papers described consensus sepsis definitions, provided criteria for sepsis, severe sepsis, septic shock, or detailed sepsis subtypes
