Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review

Introduction:Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, occurring in one out of every 2,500–2,800 births worldwide, and is associated with a high burden of disease. In Australia, prenatal testing for CF is indicated for pregnant couples identified as carriers or when a fetus is found to have an ‘echogenic bowel’ (FEB). We aimed to determine the effectiveness of prenatal CF testing and to assess ethical dimensions. A key challenge in assessing a prenatal test is selecting appropriate endpoints to indicate clinical effectiveness.Methods:A systematic review was conducted and a linked evidence approach was used to answer the effectiveness question. The literature on ethical considerations relating to prenatal testing was also reviewed.Results:No studies were identified on the direct effectiveness of prenatal CF testing or downstream consequences. Linked evidence showed good diagnostic performance with a test failure rate of 4.5 percent. Termination of pregnancy occurred in the majority of cases where two mutations were identified in a fetus of carrier parents (155/163; 95 percent), indicating testing impacts clinical management. In FEB cases with CF, termination occurred in around sixty-five percent of pregnancies. Both terminating a pregnancy and having a child with CF were associated with poor short term parental psychological outcomes. Evidence indicates prenatal testing leads to a decreased number of CF-affected births. However, ethical analyses indicated that ‘informed decisions’ should have been the primary outcome of interest.Conclusions:Proper counselling prior to testing ensures that the aim of prenatal testing is informing reproductive choices in a non-directive way, rather than decreasing the number of CF-affected births (which is ethically problematic). These results suggest that for health technology assessments undertaken on contentious topics, ethical analysis should be undertaken first so appropriate endpoints are selected for the subsequent systematic review of clinical evidence and for the economic model.

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Faculty Opinions recommendation of Perioperative strategies to improve sinus surgery outcomes in patients with cystic fibrosis: a systematic review.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718010420.793480161 ◽

2013 ◽

Author(s):

Berrylin J Ferguson ◽

Alissa Kanaan

Keyword(s):

Systematic Review ◽

Cystic Fibrosis ◽

Sinus Surgery ◽

Surgery Outcomes

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Faculty Opinions recommendation of Systematic review of the clinical effectiveness and cost-effectiveness of photodynamic diagnosis and urine biomarkers (FISH, ImmunoCyt, NMP22) and cytology for the detection and follow-up of bladder cancer.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718020265.793478738 ◽

2013 ◽

Author(s):

Thomas Guzzo

Keyword(s):

Systematic Review ◽

Bladder Cancer ◽

Cost Effectiveness ◽

Clinical Effectiveness ◽

Photodynamic Diagnosis ◽

Urine Biomarkers

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Real-World Outcomes of Ivacaftor Treatment in People with Cystic Fibrosis: A Systematic Review

Journal of Clinical Medicine ◽

10.3390/jcm10071527 ◽

2021 ◽

Vol 10 (7) ◽

pp. 1527

Author(s):

Jamie Duckers ◽

Beth Lesher ◽

Teja Thorat ◽

Eleanor Lucas ◽

Lisa J. McGarry ◽

...

Keyword(s):

Systematic Review ◽

Cystic Fibrosis ◽

Real World ◽

Safety Profile ◽

Clinical Trial Data ◽

Patient Characteristics ◽

Healthcare Resource Utilization ◽

Patient Reported ◽

Clinical Benefits

Cystic fibrosis (CF) is a rare, progressive, multi-organ genetic disease. Ivacaftor, a small-molecule CF transmembrane conductance regulator modulator, was the first medication to treat the underlying cause of CF. Since its approval, real-world clinical experience on the use of ivacaftor has been documented in large registries and smaller studies. Here, we systematically review data from real-world observational studies of ivacaftor treatment in people with CF (pwCF). Searches of MEDLINE and Embase identified 368 publications reporting real-world studies that enrolled six or more pwCF treated with ivacaftor published between January 2012 and September 2019. Overall, 75 publications providing data from 57 unique studies met inclusion criteria and were reviewed. Studies reporting within-group change for pwCF treated with ivacaftor consistently showed improvements in lung function, nutritional parameters, and patient-reported respiratory and sino-nasal symptoms. Benefits were evident as early as 1 month following ivacaftor initiation and were sustained over long-term follow-up. Decreases in pulmonary exacerbations, Pseudomonas aeruginosa prevalence, and healthcare resource utilization also were reported for up to 66 months following ivacaftor initiation. In studies comparing ivacaftor treatment to modulator untreated comparator groups, clinical benefits similarly were reported as were decreases in mortality, organ-transplantation, and CF-related complications. The safety profile of ivacaftor observed in these real-world studies was consistent with the well-established safety profile based on clinical trial data. Our systematic review of real-world studies shows ivacaftor treatment in pwCF results in highly consistent and sustained clinical benefit in both pulmonary and non-pulmonary outcomes across various geographies, study designs, patient characteristics, and follow-up durations, confirming and expanding upon evidence from clinical trials.

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Clinical effectiveness of convalescent plasma in hospitalized patients with COVID-19: a systematic review and meta-analysis

Therapeutic Advances in Respiratory Disease ◽

10.1177/17534666211028077 ◽

2021 ◽

Vol 15 ◽

pp. 175346662110280

Author(s):

Roberto Ariel Abeldaño Zuñiga ◽

Ruth Ana María González-Villoria ◽

María Vanesa Elizondo ◽

Anel Yaneli Nicolás Osorio ◽

David Gómez Martínez ◽

...

Keyword(s):

Systematic Review ◽

Clinical Trials ◽

Clinical Improvement ◽

Data Extraction ◽

Meta Analysis ◽

Clinical Effectiveness ◽

Risk Of Bias ◽

Hospitalized Patients ◽

Low Risk ◽

Controlled Clinical Trials

Aims: Given the variability of previously reported results, this systematic review aims to determine the clinical effectiveness of convalescent plasma employed in the treatment of hospitalized patients diagnosed with COVID-19. Methods: We conducted a systematic review of controlled clinical trials assessing treatment with convalescent plasma for hospitalized patients diagnosed with SARS-CoV-2 infection. The outcomes were mortality, clinical improvement, and ventilation requirement. Results: A total of 51 studies were retrieved from the databases. Five articles were finally included in the data extraction and qualitative and quantitative synthesis of results. The overall risk of bias in the reviewed articles was established at low-risk only in two trials. The meta-analysis suggests that there is no benefit of convalescent plasma compared with standard care or placebo in reducing the overall mortality and the ventilation requirement. However, there could be a benefit for the clinical improvement in patients treated with plasma. Conclusion: Current results led to assume that the convalescent plasma transfusion cannot reduce the mortality or ventilation requirement in hospitalized patients diagnosed with SARS-CoV-2 infection. More controlled clinical trials conducted with methodologies that ensure a low risk of bias are still needed. The reviews of this paper are available via the supplemental material section.

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Current Advances in Robotics for Head and Neck Surgery—A Systematic Review

Cancers ◽

10.3390/cancers13061398 ◽

2021 ◽

Vol 13 (6) ◽

pp. 1398

Author(s):

Felix Boehm ◽

Rene Graesslin ◽

Marie-Nicole Theodoraki ◽

Leon Schild ◽

Jens Greve ◽

...

Keyword(s):

Systematic Review ◽

Head And Neck ◽

Large Scale ◽

Case Series ◽

Clinical Effectiveness ◽

Neck Surgery ◽

Head And Neck Surgery ◽

Daily Routine ◽

Surgical Robots ◽

Standard Procedures

Background. In the past few years, surgical robots have recently entered the medical field, particularly in urology, gynecology, and general surgery. However, the clinical effectiveness and safety of robot-assisted surgery (RAS) in the field of head and neck surgery has not been clearly established. In this review, we evaluate to what extent RAS can potentially be applied in head and neck surgery, in which fields it is already daily routine and what advantages can be seen in comparison to conventional surgery. Data sources. For this purpose, we conducted a systematic review of trials published between 2000 and 2021, as well as currently ongoing trials registered in clinicaltrials.gov. The results were structured according to anatomical regions, for the topics “Costs,” “current clinical trials,” and “robotic research” we added separate sections for the sake of clarity. Results. Our findings show a lack of large-scale systematic randomized trials on the use of robots in head and neck surgery. Most studies include small case series or lack a control arm which enables a comparison with established standard procedures. Conclusion. The question of financial reimbursement is still not answered and the systems on the market still require some specific improvements for the use in head and neck surgery.

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Cystic fibrosis

InnovAiT Education and inspiration for general practice ◽

10.1177/1755738019883322 ◽

2019 ◽

Vol 13 (1) ◽

pp. 39-46

Author(s):

Jen Standen

Keyword(s):

Cystic Fibrosis ◽

Genetic Testing ◽

Neonatal Screening ◽

Tertiary Care ◽

Multidisciplinary Care ◽

Shared Care ◽

The Uk

In the UK over 10 000 people live with cystic fibrosis (CF), with 1-in-25 people being carriers of the disease. Multidisciplinary care is provided by tertiary care CF centres, with or without local secondary service shared care agreements. There are still, however, several reasons why CF sufferers or their families present to their GPs. This article aims to provide a brief overview of CF and its management. It also gives the information needed to guide patients about genetic testing and neonatal screening for the disease.

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The Metabolic Syndrome and Mind-Body Therapies: A Systematic Review

Journal of Nutrition and Metabolism ◽

10.1155/2011/276419 ◽

2011 ◽

Vol 2011 ◽

pp. 1-8 ◽

Cited By ~ 11

Author(s):

Joel G. Anderson ◽

Ann Gill Taylor

Keyword(s):

Systematic Review ◽

Metabolic Syndrome ◽

Clinical Trials ◽

Tai Chi ◽

Clinical Trial Data ◽

Clinical Effectiveness ◽

The Metabolic Syndrome ◽

Worldwide Population ◽

Increased Risk

The metabolic syndrome, affecting a substantial and increasing percentage of the worldwide population, is comprised of a cluster of symptoms associated with increased risk of type 2 diabetes, cardiovascular disease, and other chronic conditions. Mind-body modalities based on Eastern philosophy, such as yoga, tai chi, qigong, and meditation, have become increasingly popular worldwide. These complementary therapies have many reported benefits for improving symptoms and physiological measures associated with the metabolic syndrome. However, clinical trial data concerning the effectiveness of these practices on the syndrome as a whole have not been evaluated using a systematic and synthesizing approach. A systematic review was conducted to critically evaluate the data from clinical trials examining the efficacy of mind-body therapies as supportive care modalities for management of the metabolic syndrome. Three clinical trials addressing the use of mind-body therapies for management of the metabolic syndrome were identified. Findings from the studies reviewed support the potential clinical effectiveness of mind-body practices in improving indices of the metabolic syndrome.

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