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PubMed2000

Genetic hemochromatosis: detection, management, and population screening.

Genetic hemochromatosis (GH) is an inherited disease that results in iron overload, and, if untreated, causes irreversible organ damage. Knowledge and understanding of the early features of the condition, often nonspecific, and of the diagnostic route are necessary to detect iron overload and diagnose GH before irremedial damage has been done. Genetic testing now plays an important role in diagnosis. Management of the patient with established GH centers on venesection to return body iron levels to normal, treatment of the complications of GH, and family screening for GH. Population screening for GH, the ideal strategy to prevent any morbidity from iron overload, has not yet been accepted by public health professionals, largely because of the lack of data on the disease penetrance in genetically susceptible individuals.

Biopsy↗
PubMed1996

[Main points in the Population Screening Law].

The 'Wet op het Bevolkingsonderzoek' (WBO = Population Screening Act) makes certain categories of population screening subject to licensing. Licences will be granted only on the conditions that the benefits of the proposed screening outweigh its (physical and psychic) risks for those involved, and that it will be implemented correctly and expertly. The licensing authority is the Ministry of Welfare, Health and Sports, while the Health Council has an advisory function. The assessment may take several months. The above ministry issues a booklet on the procedure of applying for a licence and an application form. The address is: Directie Gezondheidsbeleid, P.O. Box 5406, 2280 HK Rijswijk, the Netherlands. The reports on three test evaluations and the list of test requirements are to be had from the Health Council. The address is: P.O. Box 1236, 2280 CE Rijswijk, the Netherlands.

Government Agencies↗
PubMed1994

Population screening for carrier status: effects of test limitations on precision of carrier prevalence rates.

Because of genetic heterogeneity and ambiguity of test results, only rarely will carrier screening identify all carriers of a given autosomal recessive disorder. However, the fraction of carriers identified by the test can be estimated in a case frequency study. The population carrier rate then is the rate observed in a population screening study divided by the fraction of all defective alleles detected by the screening test, estimated in the case frequency study. For example, suppose 3% of a population are found to carry the delta F508 mutation for cystic fibrosis (CF) during population screening. If a case frequency study in this same population finds that 75% of the alleles of CF cases represent the delta F508 mutation, then the estimated population carrier rate is 4% (= .03/.75). The precision of this estimate involves the precision of both the fraction of carriers detected in the case frequency study and the proportion of carriers observed in the population screening study. Standard formulae for estimating the confidence interval and sample size consider only the variability in the population screening study. Since these formulae underestimate the true variability of the estimate of the population carrier rate, the sample size calculated for a population screening study is also underestimated. We present formulae which incorporate the variability in both factors, and illustrate the effect of this additional variability on confidence limits for estimates and sample size when planning a study.

Biometry↗
PubMed2006

Comparison of conventional Papanicolaou smear and SurePath liquid-based cytology in the Copenhagen population screening programme for cervical cancer.

OBJECTIVE: To compare diagnostic performance of conventional Papanicolaou smear with SurePath liquid-based cytology in a population screening programme. METHODS: A retrospective comparison was performed on data from two 18-month periods of the screening programme for cervical cancer in the municipality of Copenhagen with conventional Papanicolaou technique (n = 82,116) and liquid-based cytology (n = 84,414). RESULTS: After the conversion to liquid-based cytology the percentage of unsatisfactory samples decreased from 2.3% to 0.3% (P < 0.001), whereas the number of normal cervical samples lacking an endocervical component increased from 8.5% to 8.9% (P < 0.005). The percentage of samples with atypical cells and cells suspicious for malignancy increased from 3% to 4.2% (P < 0.001) and from 1.9% to 2.4% (P < 0.001), respectively. The subsequent histological follow-up showed normal findings decreased from 70.5% to 68.9% and from 28.0% to 26.1%, respectively. However, in relation to the entire screening populations, there was an increase of normal findings from 2.12% to 2.89% after primary atypical diagnosis and from 0.53% to 0.62% after diagnosis of suspicious cells after conversion to the liquid-based technique. CONCLUSIONS: This study showed the number of unsatisfactory samples to be significantly reduced with the liquid-based technique. The data suggest that there is an increased detection rate of cervical precancerous lesions with liquid-based cytology, but the number of false positive tests is still high. The specificity of the two tests seems similar, but this cannot be ascertained exactly, because of the fact that follow-up of negative cases is unavailable.

Denmark↗
PubMed2001

[Screening for breast cancer on basis of individual risk assessment for women ineligible for the national population screening program].

For healthy women, without malignancies in their personal histories, a positive family history for breast cancer is the single indication for individual breast surveillance outside the population screening. Management of women is based on individual risk assessment. A cumulative risk of 20% and more, as a result of a positive family history, will in practice be an indication for breast surveillance. This threshold is not evidence-based yet, nor are data available on the benefits of this surveillance efficacy. When a personal cumulative risk of more than 30% exists to develop breast cancer, a consultation with a clinical geneticist involved in a family cancer clinic should be offered. Surveillance of women with a high-risk cumulative risk should preferably be included in a prospective study design. Only in this way will data about compliance and the estimates of different ways of surveillance become available. There is no convincing evidence that population screening for women aged 40-49 years does lead to important mortality reduction in combination with a good balance between pros and cons for the women involved. Women in the age category 50-75 years, with breast cancer in their personal histories, who are not followed anymore, should be informed by their specialist about participating (again) in the population breast screening. There is no evidence of mortality reduction as a result of breast self-examination nor of palpation performed by a physician. However, awareness of the own body can be useful for early recognition of breast abnormalities; it may reduce the delay between the first recognizable symptom and the subsequently initiated therapy.

Adult↗
PubMed1985

Epidemiology of polyps in the rectum and sigmoid colon. Design of a population screening study.

The design of a population screening study, including endoscopic screening for polyps in the rectum and sigmoid colon, was tested in a defined population sample of 200 women and 200 men aged 50-59 years. The attendance rate was 81%. A simple bowel cleansing procedure performed immediately before the examination gave satisfactory conditions for endoscopic examination in 94% of attendants. Polyp prevalence was 35%. The present material and results represent the basis for further follow-up studies of risk factors for the development of cancer in the same group of individuals.

Colonic Polyps↗
PubMed1990

Epidemiology of cervical cancer in the screened population in Taiwan, 1979-1984.

This study was based on the screening data of April 1979-June 1984 to provide descriptive epidemiology of cervical cancer in Taiwan. During the 63 months, 175,823 women were screened and 1988 (1.13%) suspicious cases were found. The predictive value of a positive test was 50.14% and the specificity of the screening test was 99.44%. The estimated cancer rate among the screened population was 0.57%. The ratio of carcinoma in situ to invasive carcinoma was 1.91. The mean ages were 37.5 years for screened population, 44.1 years for suspects, 46.3 years for cancer cases (44.1 years for carcinoma in situ and 50.8 years for invasive carcinoma), 57.3 years for cervical cancer deaths in 1981 and 58.1 years for uterine cancer deaths in 1981. Univariate descriptive analyses on all women screened revealed the following variables to be positively associated (p less than 0.05) with suspicious Pap smears and cancer confirmed cases: age, number of years married, number of full-term deliveries, number of abortions/miscarriages, and abnormal vaginal bleeding. Negative associations were found with age at first marriage, education level, previous Pap smear and use of condom for contraception. Suspicious rates (but not detected cancer rates) were significantly higher for those women who themselves or whose husbands worked in mining, salt production, fishery or agriculture occupations. They were lowest for those (self or husband) employed in civil service, teaching, military service or police. By residence, suspicious rates were highest for those residing in the most urbanized areas (cities) and lowest for those in the second most urbanized areas (country cities). Thus urbanization level was not significantly involved. Other risk variables reported in the literature such as family history of uterine and other cancers were not significantly associated with either the suspicious or the cancer rate in this study.

Adult↗
PubMed1989

Alpha-1-antitrypsin deficiency. High prevalence in the St. Louis area determined by direct population screening.

Considerable attention has been focused upon alpha-1-antitrypsin deficiency because of the insights into the pathogenesis of human pulmonary emphysema that may derive from study of deficient subjects, and because of evolving therapeutic strategies that may slow the progression of lung disease in affected persons. We have applied an automated immunoassay for alpha-1-antitrypsin to plasma samples from 20,000 blood donors. Seven PI Z antitrypsin-deficient persons were identified and confirmed; this is more than twice the number predicted from previous estimates of the Z allele frequency in the St. Louis area. Five of the subjects were further evaluated. We anticipate that this assay, if utilized to screen large populations, could identify many alpha-1-antitrypsin-deficient persons for study of the natural history of lung and liver disease associated with the deficiency. These subjects would be potential candidates for early intervention strategies to prevent the development of lung disease. The surprisingly high prevalence of deficient persons indicates that direct screening is the best method for prevalence estimation of genetic disorders.

Adolescent↗
PubMed1997

[Non-invasive coronary diagnosis with EBT (electron beam tomography). Population screening for coronary heart disease--reliability imaging of coronary stenoses].

Electron beam tomography (EBT) is currently the fastest high resolution imaging procedure available. A modern non-invasive method, it provides an accurate spatial representation of the heart including the coronary arteries. Enabling the quantitative detection of microcalcifications in the coronary arteries--a reliable parameter of early-stage CAD-EBT now makes it possible to screen large population strata. In addition, the direct, non-invasive representation of coronary arteries and coronary arterial stenoses has now become possible. Although at present, EBT will probably not completely replace invasive coronary angiography, in specific areas such as evaluating the long-term results of coronary angioplasty (PTCA) or coronary bypass, the method could make invasive diagnostic procedures superfluous.

Adult↗
PubMed1998

Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis.

Recently we identified a P408S, P415L allele of beta-glucuronidase in several Mexican patients with mucopolysaccharidosis type VII (Sly syndrome) and presented evidence that both mutations are required to produce the MPS VII allele (Islam et al., 1996). In an attempt to determine whether either of these mutations exists as a benign polymorphism among Mexicans, we developed a PCR method to screen simultaneously for both mutations and used it to screen a population sample of 187 Mexican individuals in the Guadalajara area, all from the north-western states of Mexico. Neither mutation was present in 374 alleles studied. In addition, we had the opportunity to carry out prenatal diagnosis in a fetus at risk for homozygosity for this MPS VII allele at the 15th week of gestation using enzymatic assays as well as by analysis of genomic DNA isolated from cultured amniotic fluid cells. The fetus was found to be heterozygous for the P408S, P415L allele. The newborn's heterozygosity was confirmed after birth by enzyme assays on plasma and leukocytes, and by analysis of DNA from leukocytes.

Alleles↗
PubMed2006

Reliability of self-reported eating disorders: Optimizing population screening.

OBJECTIVE: The objective of this study was to assess whether short self-report eating disorder screening questions are useful population screening methods. METHOD: We screened the female participants (N = 2881) from the 1975-1079 birth cohorts of Finnish twins for eating disorders, using several short screening questions and three Eating Disorder Inventory (EDI) subscales. Comparing these measures with clinician-conducted semi-structured diagnostic interviews (N = 549) of Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) anorexia and bulimia, we calculated their sensitivities and specificities and drew receiver operating characteristic curves to further compare these items. RESULTS: For current and lifetime bulimia, best tradeoffs between sensitivity and specificity were reached by addressing purging behaviors. For current and lifetime anorexia, the questions "Have you ever had anorexia" and "Has anybody ever suspected that you might have an eating disorder?" optimized tradeoffs between sensitivity and specificity. These questions generally outperformed EDI subscales. CONCLUSION: Simple screening questions, although less than ideal, are at least as good as other available instruments for community screenings.

Adult↗
PubMed1992

Potential impact of population screening for prenatal diagnosis of congenital heart disease.

The potential impact of prenatal screening for the detection of congenital heart disease (CHD) was assessed by prospective analysis of 428 consecutive infant admissions to a supraregional centre; 28 (6.5%) did not have CHD and were excluded from analysis. Of the 400 cases with CDH, 396 (99%) underwent fetal ultrasonography but scanning was performed only before 18 weeks' gestation in 200 (50%). One hundred and forty nine (37%) of all cardiac abnormalities and 149/283 (53%) of severe abnormalities were considered to be detectable prenatally in a screening echocardiographic four chamber view had this technique been used. Prenatal diagnosis of severe CHD actually occurred in only eight (2%) cases and was after 30 weeks' gestation in all. There were 181/347 (52%) of all mothers and 177/253 (70%) of the subgroup with severe abnormalities who expressed an opinion volunteered their preference for termination of pregnancy if mid-trimester diagnosis had been available. Mid-trimester detection of congenital heart disease rarely occurs at present despite fetal ultrasound scanning in almost all pregnancies. More than half of all severe congenital heart defects seen in infancy are potentially detectable by screening. Major training at primary scan level and modification of the timing of existing fetal anomaly scanning would be required for a screening programme to be effective.

Female↗
PubMed2005

What is the prevalence of adult ADHD? Results of a population screen of 966 adults.

To provide a better estimate of the prevalence of ADHD in adulthood, the authors complete a telephone survey of 966 randomly selected adults. They compute two diagnoses from the survey data. Participants meeting Diagnostic and Statistical Manual of Mental Disorders (4th ed.) criteria for both childhood and adulthood are defined as narrow ADHD. Broad ADHD adds to that definition those meeting subthreshold criteria. Cronbach's alpha is .90 for the 18 DSM-IV symptoms in childhood and .88 when rated for current symptoms in adulthood. No one item unduly influences the reliability of the total score. The authors find similar results in separate analyses of hyperactive-impulsive and inattentive symptoms. They estimate prevalences of 2.9% for Narrow ADHD and 16.4% for Broad ADHD. Having ADHD is associated with lower levels of education and employment status. These findings suggest that adult ADHD is a common disorder associated with impaired functioning.

Adult↗
PubMed1976

Cervical cancer in women belonging to a cytologically screened population.

Women belonging to the cytologically screened population of Stockholm in 1968 to 1974 and developing cervical cancer of stage I to IV were studied. The purpose was to find out the number of women, in whom the cancer or its preclinical stage was not detected at routine screening, and the reasons for this fact. It was found that 34 out of 177 women had never been cytologically screened. The remaining 143 women had been checked at mass screening and/or at private specialists or hospitals. In 51 screened women the cancer was not detected until the women themselves attended a doctor because of symptoms. Thus in 85 women, or 48% of the series, the cancer escaped detection at an asymptomatic stage. Errors causing a delay or interruption of the follow-up of patients with suspicious smears or colposcopic atypia were observed in 25 cases. Sixty-four patients, or 45% of all screened women, had had at least one negative smear within 4.5 years prior to discovery of the malignancy. Out of these, 53 patients had got a negative smear within 3 years. Whatever might be the true evaluation of these negative smears, their influence on the continued management of the women was important. In view of the results of this study the 4 years interval of rescreening practiced in Stockholm seems to be too long. Moreover the statement is supported, that the value of health screenings is counteracted by the fact that the people most at risk are the least likely to attend.

Adult↗
PubMed2006

Many participants in fecal occult blood test population screening have a higher-than-average risk for colorectal cancer.

OBJECTIVES: Population-based colorectal cancer screening by fecal occult blood testing reduces cancer-specific mortality. Current guidelines recommend this strategy for average risk individuals. This study investigated the prevalence of higher-than-average risk characteristics, and rate of prior colonoscopy, in participants in fecal occult blood test screening programs. METHODS: Randomly selected individuals aged 50-74 years in urban Adelaide were offered free fecal occult blood test screening by mail, without prior knowledge of their medical status. Each invitation included a questionnaire to record the prevalence of higher-than-average risk characteristics related to symptoms, family history or comorbidity, as well as prior colonoscopy. The definition of average risk was taken from updated guidelines published by the US Multisociety Task Force on Colorectal Cancer. RESULTS: Of 2538 responses analyzed, 425 individuals had had a colonoscopy within the last 5 years, 106 fulfilled family history criteria for an initial screening colonoscopy, 209 had past polyps and 26 had had colorectal cancer. Eighty-three reported recent rectal bleeding. By current guidelines, 23% of the screened population did not warrant fecal occult blood test, because either prior colonoscopy rendered it unnecessary or particular patient characteristics made colonoscopy a more appropriate initial investigation. CONCLUSIONS: Fecal occult blood test screening programs capture a sizeable number of higher-than-average risk individuals that may warrant colonoscopic rather than fecal occult blood test screening. Other participants have had a recent colonoscopy and probably warrant a delay in screening. Mass population fecal occult blood test-based screening programs need to more effectively target those at average risk and should divert those of higher or lower risk to more individualized assessment.

Aged↗