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PubMed2025

The acceptability of blood spot screening and genome sequencing in newborn screening: a systematic review examining evidence and frameworks.

BACKGROUND: Population-wide newborn blood spot screening programmes are a successful public health intervention used to detect whether the baby is at risk of certain rare conditions, with the aim of earlier diagnosis and provision of optimal care and treatment. Evaluating candidate conditions to include in newborn blood spot and genetic sequencing raises questions regarding acceptability to parents/carers. METHODS: In the context of the possible expansion of the newborn blood spot screening programme in the United Kingdom, this review aimed to systematically review research on the acceptability to parents of newborn blood spot screening and genetic sequencing. A protocol was developed prior to commencing the review and was registered on the PROSPERO database. A team of researchers carried out the review, with checking at all stages carried out by at least two individuals. We included research published after 2013 with participants who were pregnant or a recent parent of a newborn and were resident in a high-income country. We included quantitative and qualitative studies that investigated the acceptability to parents/carers of newborn blood spot screening or genetic sequencing. Quantitative studies were narratively synthesised, and theories/frameworks identified and evaluated. Qualitative studies were analysed for recurring themes, and a meta-synthesis was carried out to compare and contrast these two types of data. We quality appraised included articles using tools appropriate for their study design. RESULTS: Searches were carried out in September to November 2023 and screening identified 25 relevant research articles. Just over half were from North America, with four existing reviews and nine qualitative studies. Domains of acceptability described in the literature were: support for screening; level of anxiety, information and knowledge; consent; views of the procedure; and support after screening. The research indicated consensus support for blood spot screening, and for expanding to some other conditions, although some parental anxiety was reported. Parents/carers mostly perceived that they had received sufficient information, but the timing of this could be improved. While parents indicated interest in genomic screening, studies highlighted the need for clearer consent procedures and greater support for parents following genomic screening than for blood spot screening. Only three included studies reported using any kind of theoretical framework. DISCUSSION: Most parents/carers found newborn blood spot screening programmes to be acceptable and favoured their large-scale implementation. A minority of parents/carers expressed concerns regarding the acceptability of processes underpinning newborn blood spot screening, such as consent, the timing of receiving information and support available after testing. More research is needed regarding the acceptability of newborn genomic sequencing screening programmes, which are less established compared with newborn blood spot screening programmes. LIMITATIONS: The over-representation of studies conducted in the United States has implications for the applicability of findings to other countries where testing is not typically mandatory and health systems differ considerably. Most studies were of cross-sectional design and there was limited representation of people from lower incomes and non-white ethnicity. While the inclusion of studies only in populations of future or very recent parents provided coherence to the findings, unclear reporting of participants may have resulted in under- or overinclusion of some studies. FUNDING: This article presents independent research funded by the National Institute for Health and Care Research (NIHR) Health Technology Assessment programme as award number NIHR159927.

ACCEPTABILITY↗

PubMed2024

Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening.

PURPOSE: Genomic screening to identify individuals with Lynch Syndrome (LS) and those with a high polygenic risk score (PRS) promises to personalize colorectal cancer (CRC) screening. Understanding its clinical and economic impact is needed to inform screening guidelines and reimbursement policies. METHODS: We developed a Markov model to simulate individuals over a lifetime. We compared LS+PRS genomic screening with standard of care (SOC) for a cohort of US adults at age 30. The Markov model included health states of no CRC, CRC stages (A-D), and death. We estimated incidence, mortality, and discounted economic outcomes of the population under different interventions. RESULTS: Screening 1000 individuals for LS+PRS resulted in 1.36 fewer CRC cases and 0.65 fewer deaths compared with SOC. The incremental cost-effectiveness ratio was $124,415 per quality-adjusted life year; screening had a 69% probability of being cost-effective using a willingness-to-pay threshold of $150,000/quality-adjusted life year . Setting the PRS threshold at the 90th percentile of the LS+PRS screening program to define individuals at high risk was most likely to be cost-effective compared with 95th, 85th, and 80th percentiles. CONCLUSION: Population-level LS+PRS screening is marginally cost-effective, and a threshold of 90th percentile is more likely to be cost-effective than other thresholds.

Humans↗

PubMed2025

Cost-effectiveness of alternative cascade screening strategies for familial hypercholesterolemia with realistic cascade screening acceptance rates and use of novel treatment.

BACKGROUND AND AIMS: Cascade screening (CS) for familial hypercholesterolemia (FH) has been found to be cost-effective in many published studies. However, most existing studies (i) ignored or overstated first-degree relative (FDR) participation rate (as 60-100 %), (ii) did not consider novel and expensive therapies, e.g. PCSK9 inhibitors (PCSK9i), and (iii) were conducted outside of Asia. This study, conducted in Singapore, where FDR participation rate is about 25 % among probands who have known pathogenic variants, aims to identify drivers of cost-effectiveness of CS protocols for FH. METHODS: Four CS protocols, which vary in the application of genetic tests, were examined using a hybrid decision tree-Markov model. Sensitivity analyses were conducted to identify drivers of cost-effectiveness. RESULTS: Cascade acceptance rates are key drivers of cost-effectiveness. Other drivers include age of proband, prevalence of FH among probands, health-related quality of life loss with cardiovascular disease, timeliness of starting treatment post-screening, treatment effectiveness, cost of PCSK9i and discount rate for cost and QALY. With cascade acceptance rates observed in Singapore, among various screening protocols examined, probabilities of being cost-effective ranged from 86 % to 95 % when no access to PCSK9i and ranged from 75 % to 98 % when PCSK9i are provided. The most cost-effective protocol differs depending on cascade acceptance rates and whether PCSK9i is provided. CONCLUSION: For better cost-effectiveness of CS for FH, health systems need to look for ways to improve proband's willingness to share contact of their relatives and relatives' willingness to be screened and to lower the cost of novel treatment. Other ways to improve cost-effectiveness include to select age groups for proband screening, improve screening detection rate among probands, and start timely treatment post-screening.

Humans↗

PubMed1979

[Comparison of screens and screen-film-systems (author's transl)].

Important details are to be payed attention in comparison of different scrreens resp. screen-film-systems: 1. Physical characteristics of different groups of luminescent materials: f.i. calcium tung-state, rare-earths compounds, double halogenides. - 2. Different types of screens: highest details up to highest speed intensifying screens, have to be defined more specifically and differentiated against to each other too. - 3. Besides intensification, resolution has to be included into consideration since one of these dates alone does not allow any statement on the total function of a screen or a screen-film-system. - 4. The technical methodological conditions of apparatuses, object and its positioning have to be defined, f.i. X-ray quality, distances, grid, and in automatically controlled exposition, if necessary, position of ionization chamber as well as absorption of cassetts and screen. - 5. Considering these points gradation curves have to include the whole necessary or interesting diagnostic range. - 6. Due to functional correlation between intensification and resolution, the resolution has to be taken in consideration due to application; its interdependence of density and object (f.i. scattered radiation) is often not taken enough in consideration.

Humans↗

PubMed1979

Breast cancer screening with mammography: a population-based, randomized trial with mammography as the only screening mode.

A population-based, randomized breast cancer screening project was undertaken using mammography alone. Of 17,447 invited women aged 50-69, 12,765 (73%) attended the screening. On the basis of the screening films, malignancy was suspected in 405 women (3.2%) who were recalled for complete mammography. Additional films showed that the suspicion of malignancy was false in 194 women. The remaining 211 women (1.7%) were referred for clinical and cytological examination. Of these, 159 had surgery. Breast cancer was proved in 97 women, corresponding to a prevalence rate of 7.6/1000. Fifty-three (55%) of the carcinomas were either in situ or invasive with a diameter of less than or equal to 1 cm. Axillary metastases were found in 19 patients (19.6%). Cancers detected at screening were significantly less advanced than those in the control group. There was a remarkably high frequency of tubular carcinoma among cancers detected at screening.

Aged↗

PubMed1979

Screening for congenital hypothyroidism: results of screening one million North American infants.

Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec, Pittsburgh, Toronto, Oregon Regional, and New England Regional) have screened 1,046,362 infants. A total of 277 infants with congenital hypothyroidism have been detected and seven have been missed, resulting in a total of 284 affected infants in the screened population and an overall incidence of one in 3,684 live births. Of the affected infants, 246 were determined to have primary hypothyroidism, an incidence of one in 4,254 births. Ten infants with secondary-tertiary hypothyroidism were detected in Quebec, Oregon, and Toronto, an incidence of one in 68,200 births. Of all the infants with primary hypothyroidism who were adequately studied, 63% were determined to have aplastic or hypoplastic glands, 14% normal or enlarged glands, and 23% ectopic thyroid tissue. The estimated minimum incidence of infants with TBG deficiency is one in 8,913 births. Only 8 of the 277 detected infants were suspected clinically to have congenital hypothyroidism prior to the time of confirmation of the diagnosis at 4 to 8 weeks of age. The cost of screening varied from $0.70 to $1.60 per infant, depending on which costs were included in the estimate. Preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.

Alpha-Globulins↗

PubMedDate not supplied

The limitation of screening effect. A review of cervical disorders in previously screened women.

In the Frederiksberg screening program from 1962 to 1972 invasive carcinoma, carcinoma in situ or severe dysplasia of the cervix were found in 155 previously unscreened women. In previously screened women 137 lesions were later elucidated, 53 of these at rescreening. If a failure of method of 10 per cent is anticipated, 21 cases were probably missed due to the method chosen. Patient failure was noted in six cases and two cases were missed by insufficient follow-up by the doctor. The importance of a high participation rate is emphasized. The cytologist's error was 19 per cent. Sixty-four cases were estimated to represent new cases developed between screenings. A reduction of cytologist's error is assumed to be the most accessible way of improving screening results.

Adult↗

PubMed1977

General health screening of four-year-olds in a Swedish country. V. A strategy for improving the effectiveness and the cost efficiency of the psychological screening program.

Data presented in a previous paper pointed to the necessity for improving the overall sensitivity of the psychological screening program. The present report indicates possibilities for such an improvement without changing the screening methods. A comparison of the primary data of the true positives, the false positives and all the negatives (non-referred) revealed the necessity of more stringent referral criteria. It is predicted that the systematic application these criteria would result in an increase in the rate of true positives form 2.8 to 4.8% of the screened population. In addition a strategy aiming at a reduction of the costs without deteriorating the effectiveness and based on a differential application of the various elements of the screening program is presented.

Child Behavior Disorders↗

PubMed2026

Development and evaluation of a one-pot RPA-Cas12a assay based on a primer-driven reverse screening strategy for preliminary screening of megalocytivirus-related viruses.

A primer-driven reverse-screening strategy was used to identify an RPA-Cas12a target suitable for the rapid preliminary screening of megalocytivirus-related viruses. The ISKNV reference genome NC_003494.1 was used as the initial template, and candidate amplification units were designed according to RPA primer-design requirements, primer physicochemical properties, and the availability of Cas12a protospacer-adjacent motif (PAM) sites and crRNA target sequences. Following preliminary amplification assessment, the retained candidate primers were aligned individually against 75 complete genome sequences of megalocytivirus-related viruses. Of these, 67 sequences met the predefined criteria for target-region integrity, primer-binding-site compatibility, and Cas12a recognition. Retrospective mapping to the reference genome located the candidate amplification region within ORF057L. Based on the resulting candidate detection unit, a one-pot RPA-Cas12a assay incorporating a commercially available lyophilized RPA amplification module was developed. Optimization showed that 400 nM reporter and 80 nM crRNA-1 provided relatively stable fluorescence output. A cut-off value of 1281.6 relative fluorescence units (RFU) was established as the mean plus three standard deviations of the endpoint fluorescence values obtained from 20 qPCR-negative samples. In analytical sensitivity testing, the assay generated fluorescence signals above the negative control at low plasmid copy numbers. However, because only a limited number of replicates were tested at these low template concentrations, these findings were not used to define a formal limit of detection. ISKNV, RSIV, and TRBIV samples tested positive, whereas the MRV sample produced an endpoint fluorescence value below the cut-off. Repeatability analysis of the same sample in six independent reactions yielded a coefficient of variation of 8.03%. Among the 39 samples examined, no discordant qualitative results were observed between the RPA-Cas12a assay and qPCR. These findings support the use of the ORF057L-targeted one-pot RPA-Cas12a assay as a rapid preliminary screening tool for megalocytivirus-related viruses. Nevertheless, its formal limit of detection, inter-batch stability, cross-reactivity with additional non-target pathogens, and clinical diagnostic performance require further evaluation.

Lyophilized RPA↗

PubMed1977

Comparison between the automated reagin test and reagin screen test methods of VDRL screening tests for syphilis in use in a routine laboratory.

A comparison is made between the automated reagin test (ART) using Technicon AutoAnalyzer equipment and the reagin screen test (RST) introduced by Lederle using a new antigen formulation. Treponemal haemagglutination tests (TPHA) were done simultaneously as second screen tests. The absorbed fluorescent treponemal antibody test (FTA-ABS) was used in all seropositive cases. Altogether 1154 sera were tested; 1028 were negative with all tests, 66 were positive with all tests, 42 were positive with TPHA and negative with ART and RST, and 16 were positive with TPHA and RST and negative with ART. It was concluded that the use of the RST and TPHA together would be the more sensitive screen test.

Antibodies, Bacterial↗

PubMed1978

[New intensifying screens in clinical radiology III: Screen-film combinations in mammography (author's transl)].

An industrial film was compared with four commercially available screen-film combinations with respect to dose, definition and signal to noise ratio. The demanded minimum resolving power requires definition of an object of 100 micrometer size. However, the defined minimum object sizes are approx. 180 micrometer with close-distance projection and approx. 240 micrometer with greater distance. In this study, therefore, the signal to noise ratios were measured at defined object sizes of 5 lp/mm and 2 lp/mm. The screen-film combinations have approximately the same values as the industrial film for a size of 250 micrometer (2 lp/mm) or are definitely higher. The signal to noise ratio of the Alpha M combination is superior by 50%, although the sensitivity of the combination is 4 to 6 times greater. The signal to noise ratio of the MinR system in 25% higher than that of the industrial film, the required dose being lower by a factor of 8. This results in skin doses of 0.7 rads instead of 6 rads with tissue layers of 4.8 cm thickness.

Female↗

PubMed1979

[TSH-screening program for congenital hypothyroidism. Experiences with early thyrotropin (TSH) screening].

14,919 newborn infants were screened for congenital hypothyroidism within the last 5 years using a sensitive TSH method. 10 infants with congenital hypothyroidism were discovered thus presenting a frequency of 1:4500. Four of these infants showed abnormally high TSH levels and normal thyroxine levels. The determination of TSH in cord blood--or combined with the screening program for phenylketonuria--in eluate of dried filter paper specimens is the most sensitive test for primary hypothyroidism without false negative results and a low false positive recall rate of 0.16%. After initiation of therapy with thyroxine the TSH level falls unless therapy is delayed for longer. In the latter case TSH levels may remain elevated for several months despite therapy with thyroxine. We would suggest to start therapy with triiodothyronine for up to 14 days prior to initiation of the usual thyroxine therapy.

Congenital Hypothyroidism↗

PubMed1979

A new screening method for cystinuria. A simple and safe screening kit.

The new kit (Urocystin) presented here utilizes the dark brown coloration which a neutral aqueous solution of cystine develops rapidly upon addition of nickel ion and sodium hydrosulfite (Na2S2O4). What is needed is pouring 4 ml of the urine sample into the kit, and the kit is able to judge without fail any urine sample with a cystine concentration of 50 microgram/ml or more as positive. No pretreatment of the sample is necessary. The kit contains no hazardous reagents at all. The kit has thus turned screening of cystinuria into an extremely simple affair.

Cystinuria↗

PubMed1979