Communicating blood test results in primary care: a mixed methods systematic review.

Background Test result communication is important for patient-centred care, patient safety and primary care workload. Evidence is needed to ensure that test results are communicated safely and efficiently to patients in primary care. Aim To summarize existing evidence for blood test result communication between primary care providers and their patients and carers. Design and setting Mixed-methods systematic review Methods Medline, Embase, PsycINFO (Ovid); CINAHL (ESCOHost); and the Cochrane Library were searched from 2013 to September 2023. Primary studies of any design that provided information on the communication of blood test results by primary care staff to adult patients and carers were eligible for inclusion. Results There were 71 included studies, including 10 experimental studies and no randomized controlled trials. Study quality was mostly poor and risk of bias was high, partly due to a lack of reported information. Patients want more information about their blood test results, particularly in terms of 'what next', and prefer results to be provided quickly. Electronic methods such as online access or text messages were generally well accepted but not by everyone, and not for all results. Clinicians' opinions were mixed as to whether more information and direct release of test results to patients without clinician input was beneficial or could cause problems, such as increased workload. Conclusions We have identified a range of evidence on patient and clinician preferences, barriers and facilitators to test communication, which is particularly important in the current NHS context of a move towards patient online access.

The diagnostic performance of CA-125 for the detection of ovarian cancer in women from different ethnic groups: a cohort study of English primary care data.

BACKGROUND: CA-125 testing is a recommended first line investigation for women presenting with possible symptoms of ovarian cancer in English primary care, to help determine whether further investigation for ovarian cancer is needed. It is currently not known how well the CA-125 test performs in ovarian cancer detection for patients from different ethnic groups. METHODS: A retrospective cohort study utilising English primary care data linked to the national cancer registry was undertaken. Women aged ≥ 40 years with a CA-125 test between 2010 and 2017 were included. Logistic regression predicted one-year ovarian cancer incidence by ethnicity, adjusting for age, deprivation status, and comorbidity score. The estimated incidence of ovarian cancer by CA-125 level was modelled for each ethnic group using restricted cubic splines. RESULTS: The diagnostic performance of CA-125 differed for women from different ethnicities. In an unadjusted analysis, predicted CA-125 levels for Asian and Black women were higher than White women at corresponding probabilities of ovarian cancer. The higher PPVs for White women compared to Asian or Black women were eliminated by inclusion of covariates. CONCLUSION: The introduction of ethnicity-specific thresholds may increase the specificity and PPVs of CA-125 in ovarian cancer detection at the expense of sensitivity, particularly for Asian and Black women. As such, we cannot recommend the use of ethnicity-specific thresholds for CA-125.

AI-guided deep vein thrombosis diagnosis in primary care: protocol for cohort with qualitative assessment.

BACKGROUND: Deep vein thrombosis (DVT), a formation of blood clots within deep veins, mostly of the proximal lower limb, has an annual incidence of 1-2 per 1,000. Patients who are affected by multiple chronic health conditions and who experience limited mobility are at high risk of developing DVT.Traditional DVT diagnosis involves probabilistic assessment in primary care, followed by specialised ultrasound scans (USS), mainly conducted in hospitals. The emergence of point-of-care ultrasound (POCUS), coupled with artificial intelligence (AI)-applications has the potential to expand primary care diagnostic capabilities. AIM: To assess the accuracy and acceptability of AI-guided POCUS for DVT diagnosis when performed by non-specialists in primary care. DESIGN & SETTING: Diagnostic cross-sectional study coupled with a qualitative evaluation conducted at primary care DVT clinics. METHOD: First, a diagnostic test accuracy (DTA) study will investigate the accuracy of AI-guided POCUS in 500 individuals with suspected DVT, performed by healthcare assistants (HCAs). The reference standard is the standard of care USS conducted by sonographers. Second, after receiving both scans, participants will be invited to complete a patient satisfaction survey (PSS). Finally, semi-structured interviews with 20 participants and 5 HCAs will explore the acceptability of AI-guided POCUS DVT diagnosis. CONCLUSION: This study will rigorously evaluate the accuracy and acceptability of AI-guided POCUS DVT diagnosis conducted by non-specialists in primary care.

Past Fire and Vegetation Change in the Hyperdiverse Forests of the Ecuadorian Amazon.

The Ecuadorian Amazon holds more biodiversity than most other places on Earth. Palms are a particularly dominant component of the vegetation; however, it remains unknown to what degree the pattern has persisted through time. Here, we investigate the persistence of palm dominance through time and the degree to which past human activities (e.g., fire, cultivation, and forest opening) have affected changes in palm abundances across five regions of the Ecuadorian Amazon. We analyzed soil cores (40-80 cm depth) from each region for charcoal (evidence of past fire) and phytoliths (evidence of past vegetation change). The timings of fires (based on 14C radiocarbon dates), the occurrence, recurrence, and number of fires (based on charcoal presence and abundance in samples), and the amount of change in palm abundances (based on phytoliths) varied within and between the studied regions. The charcoal and phytolith results indicate the presence of low levels of past human activity at all sites. Our results show that patterns of modern palm hyperdominance found in Amazonian forests have not been persistent through time, and that even low levels of past human activities can affect palm abundance.

Climatic temperature and precipitation jointly influence body size in species of western rattlesnakes.

Both the metabolic theory of ecology and dynamic energy budget theory predict that climate influences body size through its effects on first-order determinants of energetics: reactive temperatures, carbon resources and oxygen availability. Although oxygen is seldom limiting in terrestrial systems, temperature and resources vary spatially. We used redundancy analyses and variation partitioning to evaluate the influence of climatic temperature, precipitation and their seasonalities on multivariate body size across the distributions of four species of the western rattlesnake group in North America (Crotalus pyrrhus, C. scutulatus, C. oreganus and C. viridis). Most species showed a pattern of increased body size in cooler, mesic climates and decreased body size in warmer, xeric climates. Exceptions to the pattern provided additional context through climatic idiosyncrasies in the distributions of each species. For example, the general pattern of a negative influence of temperature on body size was not apparent for C. oreganus, which ranges across the mildest climates overall among the four species. In contrast to previous studies, we found that seasonality had negligible effects on body size. We suggest that precipitation gradients correlate positively with resource availability in driving intraspecific body size and that temperature compounds this gradient by increasing baseline metabolic demands and restricting activity in particularly warm or otherwise extreme climates.

Patient safety in actioning and communicating blood test results in primary care: a UK wide audit using the Primary care Academic CollaboraTive (PACT).

BACKGROUND: Errors associated with failures in filing, actioning and communicating blood test results can lead to delayed and missed diagnoses and patient harm. This study aimed to audit how blood tests in primary care are filed, actioned and communicated in primary care, to identify areas for patient safety improvements. METHODS: UK primary care clinicians were recruited through the Primary Care Academic CollaboraTive (PACT). PACT members audited 50 recent sets of blood tests from their practice and retrospectively extracted data on blood test result coding, actioning and communication. PACT members received a practice report, showing their own results, benchmarked against other participating practices. RESULTS: PACT members from 57 general practices across all four UK nations collected data on 2572 patients who had blood tests in April 2021. In 89.9% (n=2311) they agreed with the initial clinician's actioning of blood tests; 10.1% disagreed, either partially (7.1%) or fully (3.0%).In 44% of patients (n=1132) an action (eg, 'make an appointment') was specified by the filing clinician. This action was carried out in 89.7% (n=1015/1132) of cases; in 6.8% (n=77) the action was not carried out, in 3.5% (n=40) it was unclear. In the 117 cases where the test result had not been actioned 38% (n=45) were felt to be at low risk of harm, 1.7% (n=2) were at high risk of harm, 0.85% (n=1) came to harm.Overall, in 47% (n=1210) of patients there was no evidence in the electronic health records that results had been communicated. Out of 1176 patients with one or more abnormal results there was no evidence of test communication in 30.6% (n=360). There were large variations between practices in rates of actioning and communicating tests. CONCLUSION: This research demonstrates variation in the way blood test results are actioned and communicated, with important patient safety implications.

Exploring factors influencing quality of life variability among individuals with coeliac disease: an online survey.

OBJECTIVE: Patients with coeliac disease (CD) need to follow a strict gluten-free diet to manage symptoms and prevent complications. Restrictions imposed by the diet can be challenging and affect quality of life (QoL). We explored sources of variation in QoL among patients with CD. DESIGN: We conducted an online survey of coeliac patients in the UK, including a CD-specific QoL tool (CD-QOL V.1.0), questions on diet adherence and an optional comment box at the end. The survey was disseminated via social media and went live between January and March 2021. We performed multiple linear regression and free text analysis. RESULTS: We found a median CD-QOL score of 61 (IQR 44-76, range 4-100, n=215) suggesting good QoL (Good >59); however, the individual QoL scores varied significantly. Regression analyses showed that people who found diet adherence difficult and people adhering very strictly had a lower QoL. Free text comments suggested that people who adhered very strictly may do so because they have symptoms with minimal gluten exposure. People who found diet adherence difficult may be people who only recently started the diet and were still adjusting to its impact. Comments also highlighted that individuals with CD often perceive a lack of adequate follow-up care and support after diagnosis. CONCLUSION: Better support and follow-up care is needed for people with CD to help them adjust to a gluten-free diet and minimise the impact on their QoL. Better education and increased awareness are needed among food businesses regarding cross-contamination to reduce anxiety and accidental gluten exposure.

Exploring ethnic differences in the distribution of blood test results in healthy adult populations to inform earlier cancer detection: a systematic review.

BACKGROUND: In primary care, health professionals use blood tests to investigate nonspecific presentations to inform referral decisions. Reference ranges for the commonly used blood tests in western countries were developed in predominately White populations, and so may perform differently when applied to non-White populations. Knowledge of ethnic variation in blood test results in healthy/general populations could help address ethnic inequalities in cancer referral for diagnosis and outcomes. OBJECTIVE: This systematic review explored evidence of ethnic differences in the distribution of selected blood test results among healthy/general populations to inform future research aimed at addressing inequalities in cancer diagnosis. METHODS: We searched PubMed and EMBASE to identify studies reporting measures of haemoglobin, MCV, calcium, albumin, platelet count, and CRP in nondiseased adults from at least 2 different ethnic groups. Two reviewers independently screened studies, completed data extraction and quality assessment using an adapted Newcastle-Ottawa scale. Participants were stratified into White, Black, Asian, Mixed, and Other groups. Data were synthesised narratively and meta-analyses were conducted where possible. RESULTS: A total of 47 papers were included. Black men and women have lower average values of haemoglobin, MCV, and albumin, and higher average values of CRP relative to their White counterparts. Additionally, Black men have lower average haemoglobin than Asian men, whereas Asian women have lower average CRP values when compared with White women. CONCLUSIONS: There is evidence of ethnic differences in average values of haemoglobin, MCV, CRP, and albumin in healthy/general populations. Further research is needed to explore the reasons for these differences. Systematic review registration: CRD42021274580.

Association between patient ethnicity and prostate cancer diagnosis following a prostate-specific antigen test: a cohort study of 730,000 men in primary care in the UK.

BACKGROUND: Black men have higher prostate-specific antigen (PSA) levels and higher prostate cancer incidence and mortality than White men, while Asian men tend to have lower prostate cancer incidence and mortality than White men. Much of the evidence comes from the USA, and information from UK populations is limited. METHODS: This retrospective cohort study used data on patients registered at general practices in England contributing to the Clinical Practice Research Datalink (CPRD) Aurum dataset. Those eligible were men aged 40 and over with a record of ethnicity and a PSA test result recorded between 2010 and 2017 with no prior cancer diagnosis. The aim was to assess the incidence of prostate cancer following a raised PSA test result in men from different ethnic groups. Additionally, incidence of advanced prostate cancer was investigated. Cancer incidence was estimated from multi-level logistic regression models adjusting for potential confounding factors. RESULTS: 730,515 men with a PSA test were included (88.9% White). Black men and men with mixed ethnicity had higher PSA values, particularly for those aged above 60 years. In the year following a raised PSA result (using age-specific thresholds), Black men had the highest prostate cancer incidence at 24.7% (95% CI 23.3%, 26.2%); Asian men had the lowest at 13.4% (12.2%, 14.7%); incidence for White men was 19.8% (19.4%, 20.2%). The peak incidence of prostate cancer for all groups was in men aged 70-79. Incidence of prostate cancer diagnosed at an advanced stage was similar between Black and White men. CONCLUSIONS: More prostate cancer was diagnosed in Black men with a raised PSA result, but rates of advanced prostate cancer were not higher in this group. In this large primary care-based cohort, the incidence of prostate cancer in men with elevated PSA levels increases with increasing age, even when using age-adjusted thresholds, with Black men significantly more likely to be diagnosed compared to White or Asian men. The incidence of advanced stage prostate cancer at diagnosis was similar for Black and White men with a raised PSA result, but lower for Asian men.

Great expectations? GPs' estimations of time required to deliver BMJ's '10 minute consultations'.

OBJECTIVES: To estimate the time required to undertake consultations according to BMJ's 10-minute consultation articles.To quantify the tasks recommended in 10-minute consultation articles.To determine if, and to what extent, the time required and the number of tasks recommended have increased over the past 22 years. DESIGN: Analysis of estimations made by four general practitioners (GPs) of the time required to undertake tasks recommended in BMJ's 10-minute consultation articles. SETTING: Primary care in the UK. PARTICIPANTS: Four doctors with a combined total of 79 years of experience in the UK National Health Service following qualification as GPs. MAIN OUTCOME MEASURES: Median minimum estimated consultation length (the estimated time required to complete tasks recommended for all patients) and median maximum estimated consultation length (the estimated time required to complete tasks recommended for all patients and the additional tasks recommended in specific circumstances). Minimum, maximum and median consultation lengths reported for each year and for each 5-year period. RESULTS: Data were extracted for 44 articles. The median minimum and median maximum estimated consultation durations were 15.7 minutes (IQR 12.6-20.9) and 28.4 minutes (IQR 22.4-33.8), respectively. A median of 17 tasks were included in each article. There was no change in durations required over the 22 years examined. CONCLUSIONS: The approximate times estimated by GPs to deliver care according to 10-minute consultations exceed the time available in routine appointments. '10 minute consultations' is a misleading title that sets inappropriate expectations for what GPs can realistically deliver in their routine consultations. While maintaining aspirations for high-quality care is appropriate, practice recommendations need to take greater account of the limited time doctors have to deliver routine care.

Cost-Effectiveness of Routine Monitoring of Long-Term Conditions in Primary Care: Informing Decision Modelling with a Systematic Review in Hypertension, Type 2 Diabetes and Chronic Kidney Disease.

BACKGROUND: Long-term conditions (LTCs) are major public health problems with a considerable health-related and economic burden. Modelling is key in assessing costs and benefits of different disease management strategies, including routine monitoring, in the conditions of hypertension, type 2 diabetes mellitus (T2DM) and chronic kidney disease (CKD) in primary care. OBJECTIVE: This review aimed to identify published model-based cost-effectiveness studies of routine laboratory testing strategies in these LTCs to inform a model evaluating the cost effectiveness of testing strategies in the UK. METHODS: We searched the Medline and Embase databases from inception to July 2023; the National Institute for Health and Care Institute (NICE) website was also searched. Studies were included if they were model-based economic evaluations, evaluated testing strategies, assessed regular testing, and considered adults aged >16 years. Studies identified were summarised by testing strategies, model type, structure, inputs, assessment of uncertainty, and conclusions drawn. RESULTS: Five studies were included in the review, i.e. Markov (n = 3) and microsimulation (n = 2) models. Models were applied within T2DM (n = 2), hypertension (n = 1), T2DM/hypertension (n = 1) and CKD (n = 1). Comorbidity between all three LTCs was modelled to varying extents. All studies used a lifetime horizon, except for a 10-year horizon T2DM model, and all used quality-adjusted life-years as the effectiveness outcome, except a TD2M model that used glycaemic control. No studies explicitly provided a rationale for their selected modelling approach. UK models were available for diabetes and CKD, but these compared only a limited set of routine monitoring tests and frequencies. CONCLUSIONS: There were few studies comparing routine testing strategies in the UK, indicating a need to develop a novel model in all three LTCs. Justification for the modelling technique of the identified studies was lacking. Markov and microsimulation models, with and without comorbidities, were used; however, the findings of this review can provide data sources and inform modelling approaches for evaluating the cost effectiveness of testing strategies in all three LTCs.

Understanding the patient's experience of coeliac disease diagnosis: a qualitative interview study.

BACKGROUND: Coeliac disease (CD) presents with non-specific symptoms, and delays to diagnosis are common. The traditional diagnostic pathway involves serological testing followed by endoscopic biopsy; however, the evidence is increasing about the effectiveness of a diagnosis without the need for a biopsy. AIM: To understand the patient's experience of being diagnosed with CD. DESIGN AND SETTING: A qualitative study was conducted, which involved semi-structured interviews with adults diagnosed with CD living in the UK. METHOD: Participants (n = 20) were purposefully sampled from 200 adults who had completed a diagnostic confidence survey. Interviews were conducted via video-conferencing software (Zoom), recorded, and transcribed verbatim. Data were analysed using reflexive thematic analysis. RESULTS: Interviewees faced pre-diagnostic uncertainty, presenting with non-specific symptoms that many experienced for several years and may have normalised. GPs often attributed their symptoms to alternative diagnoses, commonly, irritable bowel syndrome or anaemia. Investigations caused further uncertainty, with half of the interviewees unaware that their initial serology included a test for CD, and reporting long waits for endoscopy and challenges managing their diet around the procedure. Their uncertainty reduced once they received their biopsy results. Endoscopy was presented as the 'gold standard' for diagnosis and most interviewees believed that the procedure was necessary for diagnostic confidence and conviction in a lifelong gluten-free diet. CONCLUSION: Patients experience uncertainty on the pathway to a diagnosis of CD. GPs could improve their experiences by being mindful of the possibility of CD and sharing information about serological testing. Policy and guidance should address the time to endoscopy and diet during diagnosis. If diagnosis without biopsy is adopted, then consideration should be given to clinical pathway implementation and communication approaches to reduce patient uncertainty.

Liver function tests in patients with hypertension in primary care: a prospective cohort study.

BACKGROUND: Liver function tests (LFTs) are frequently used to monitor patients with hypertension in UK primary care. Evidence is lacking on whether testing improves outcomes. AIM: To estimate the diagnostic accuracy of LFTs in patients with hypertension and determine downstream consequences of testing. DESIGN & SETTING: Prospective study using the Clinical Practice Research Datalink (CPRD). METHOD: In total, 30 000 patients with hypertension who had LFTs in 2015 were randomly selected from CPRD. The diagnostic accuracy measures for eight LFT analytes and an overall LFT panel were calculated against the reference standard of liver disease. Rates of consultations, blood tests, and referrals within 6 months following testing were measured. RESULTS: The 1-year incidence of liver disease in patients with hypertension was 0.5% (95% confidence interval [CI] = 0.4% to 0.6%). Sensitivity and specificity of an LFT panel were modest: 61.3% (95% CI = 53.1% to 69.0%) and 73.8% (95% CI = 73.1% to 74.3%), respectively. The positive predictive value (PPV) of the eight individual LFT analytes were low ranging from 0.2% to 8.9%. Among patients who did not develop liver disease, mean number of consultations, referrals, and tests were higher in the 6 months following false-positives at 10.5, 0.7 and 29.8, respectively, compared with true-negatives: 8.6, 0.6, and 19.8. CONCLUSION: PPVs of LFTs in primary care were low, with high rates of false-positive results and increased rates of subsequent consultations, referrals, and blood testing. Avoiding LFTs for routine monitoring could potentially reduce patients' anxiety, GP workload, and healthcare costs.

Clinical effectiveness of point of care tests for diagnosing urinary tract infection: a systematic review.

BACKGROUND: Point of care tests (POCTs) have the potential to improve the urinary tract infection (UTI) diagnostic pathway, as they can provide a diagnosis quickly in near-patient settings, and some also identify causative pathogens/antimicrobial sensitivity. OBJECTIVES: To assess the clinical impact, accuracy, and technical characteristics of POCT for diagnosing UTI. METHODS OF DATA SYNTHESIS: Narrative summary and bivariate random effects meta-analyses to estimate summary sensitivity and specificity. DATA SOURCES: Five electronic databases, two clinical trial registries, study reports and review reference lists, and websites. STUDY ELIGIBILITY CRITERIA: Randomized controlled trials/non-randomized studies and diagnostic test accuracy studies published since 2000. PARTICIPANTS: People with suspected UTI. TESTS: Rapid tests (results <40 minutes): Astrego PA-100 system, Lodestar DX, Uriscreen, UTRiPLEX. Culture tests (results <24 hours): Flexicult Human, ID Flexicult, Diaslide, Dipstreak, Chromostreak, Uricult, Uricult Trio, Uricult Plus. REFERENCE STANDARD: Any. ASSESSMENT OF RISK OF BIAS: Risk of Bias-2, Quality Assessment of Diagnostic Accuracy Studies-2, Quality Assessment of Diagnostic Accuracy Studies-C. RESULTS: Two randomized controlled trials evaluated Flexicult Human (one against standard care; one against ID Flexicult). No difference was reported in antibiotic use concordant with culture results (OR 0.84 95% CI 0.58-1.20) or appropriate antibiotic prescribing (OR 1.44 95% CI 1.03-1.99). Initial antibiotic prescribing was lower with Flexicult than standard care (OR 0.56 95% CI 0.35-0.88). No difference for other measures of antibiotic use, symptom duration, patient enablement, or resource use. Fifteen studies reported accuracy data. Limited data were available, with most POCT evaluated in single studies or not evaluated at all. Uriscreen (four studies), Uricult Trio (three studies), Flexicult Human (four studies), and ID Flexicult (two studies) had modest sensitivity and specificity. POCTs were easier to use and interpret than standard culture. CONCLUSIONS: There is currently insufficient evidence to support the use of POCTs in UTI diagnosis. Due to the rapid development of POCT, this review should be updated regularly.

Household Transmission of Mpox to Children and Adolescents, California, 2022.

BACKGROUND: In California, the 2022 mpox outbreak cumulated 5572 cases, 20% of US cases, as of November 28, 2022; 0.3% of cases were among children <16 years old. The secondary attack rate (SAR) for children sharing households with infected adults is unknown. METHODS: A line list of pediatric mpox household contacts aged <16 years reported through August 31, 2022 was created. It included demographic and clinical information on the contacts. Pediatric contact lists were crossmatched with the state vaccination database to identify those who received postexposure prophylaxis (PEP) with the JYNNEOS vaccine. RESULTS: We identified 129 pediatric household contacts with median age of 7 years (range, 0-15 years). Among 18 symptomatic contacts, 12 (66.7%) underwent mpox testing; 5 (41.2%) were confirmed cases, 6 (50%) were negative, and 1 (0.8%) had an indeterminate result. Six symptomatic children were not tested for mpox (33.3%). Overall, 6 infected contacts were identified, resulting in a SAR of 4.7% (6 of 129). The majority of pediatric household contacts and 4 of 6 infected children identified as Hispanic/Latino. Only 18 children (14%) reported receiving PEP. CONCLUSIONS: The SAR was overall low among pediatric household contacts; none had severe disease. This may be underestimated given low testing rates.

Operationalisation of the ForenSeq® Kintelligence Kit for Australian unidentified and missing persons casework.

Single nucleotide polymorphism (SNP) genotyping technologies can generate investigative leads for human remains identification, including estimation of biological sex, biogeographical ancestry (BGA), externally visible characteristics (EVCs), identity, uniparental lineage and extended kinship. The ForenSeq® Kintelligence Kit provides forensic laboratories with the ability to apply this suite of genetic tools to forensic samples using one panel targeting 10,230 SNPs (including 56 ancestry-informative, 24 phenotype-informative, 94 identity-informative, 106 X chromosome, 85 Y chromosome and 9867 kinship-informative SNPs) sequenced on the MiSeq FGx® Sequencing System. The ForenSeq® Kintelligence Kit has been internally validated, optimised and operationalised by the Australian Federal Police National DNA Program for Unidentified and Missing Persons (AFP Program) for coronial casework. The internal validation was conducted according to the Scientific Working Group on DNA Analysis Methods guidelines (excluding mixture analysis), focussing on sample types typically encountered in human remains identification casework, such as bones, teeth, nail, blood and hair. The workflow was optimised for a high throughput library preparation and sequencing workflow, and additional analytical thresholds were developed to improve genotyping accuracy for low DNA input samples. Additionally, the genetic intelligence generated from the kit was compared to the self-declared biological sex, EVCs and BGA of the DNA donors to assess concordance. The kit was able to produce high quality SNP profiles from 1.0 ng down to 0.1 ng of DNA, with high repeatability and reproducibility, and minimal background noise. The prediction accuracy for biological sex (95%), hair colour (58%), eye colour (74%) and BGA inferences (consistent: 74%; partially consistent: 10%; inconclusive: 16%) was determined based on self-declared data. Additionally, SNP profiles from a volunteer family group of ten related individuals were uploaded to GEDmatch PRO™ to assess kinship accuracy. The kit was capable of detecting (97%) and accurately classifying (90%) genetic relationships spanning from first to fifth degree. The Kintelligence Kit provides the AFP Program with a robust and reliable genetic intelligence tool for unidentified and missing persons investigations, which has been designed to sequence multiple challenging samples in a single multiplexed assay using existing laboratory instrumentation.

Identifying the Optimum Strategy for Identifying Adults and Children With Celiac Disease: A Cost-Effectiveness and Value of Information Analysis.

OBJECTIVES: Celiac disease (CD) is thought to affect around 1% of people in the United Kingdom, but only approximately 30% are diagnosed. The aim of this work was to assess the cost-effectiveness of strategies for identifying adults and children with CD in terms of who to test and which tests to use. METHODS: A decision tree and Markov model were used to describe testing strategies and model long-term consequences of CD. The analysis compared a selection of pre-test probabilities of CD above which patients should be screened, as well as the use of different serological tests, with or without genetic testing. Value of information analysis was used to prioritize parameters for future research. RESULTS: Using serological testing alone in adults, immunoglobulin A (IgA) tissue transglutaminase (tTG) at a 1% pre-test probability (equivalent to population screening) was most cost-effective. If combining serological testing with genetic testing, human leukocyte antigen combined with IgA tTG at a 5% pre-test probability was most cost-effective. In children, the most cost-effective strategy was a 10% pre-test probability with human leukocyte antigen plus IgA tTG. Value of information analysis highlighted the probability of late diagnosis of CD and the accuracy of serological tests as important parameters. The analysis also suggested prioritizing research in adult women over adult men or children. CONCLUSIONS: For adults, these cost-effectiveness results suggest UK National Screening Committee Criteria for population-based screening for CD should be explored. Substantial uncertainty in the results indicate a high value in conducting further research.