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PubMed1997

Atypicality or specific screen: which is better at detecting non-Down's chromosomal anomalies?

I evaluated the value of adding a trisomy 18 screen to routine Down's screening and compared it with the benefits of atypicality screening. I studied 5080 unaffected pregnancies, 144 Down's syndrome and 190 non-Down's syndrome chromosome abnormalities (20 trisomy 13; 79 trisomy 18; 20 Turner's syndrome; 29 other sex chromosome abnormalities; 8 triploidy; and 34 miscellaneous). Using a one in 250 cut off, the Down's screen gave a screen positive rate of 4.07%; addition of atypicality without a trisomy 18 screen gave an extra 0.9% screen positives; trisomy 18 screening without atypicality gave an extra 0.51% screen positives; and atypicality screening after trisomy 18 screening gave 0.52% screen positives. Total screen positive rates were: Down's screening only, 4.07%; Down's screening + atypicality, 4.97%; Down's screening + trisomy 18 screen, 4.58%; Down's screening + trisomy 18 screen + atypicality, 5.09%. The detection rate for Down's syndrome using a one in 250 cut off was 58.9% and with addition of trisomy 18 and atypicality screening this increased to 59.3%, indicating that the extra screens add little to detection of Down's syndrome. For the other chromosomal abnormalities, Down's screening alone detected 22.6% of cases overall and addition of trisomy 18 and atypicality screening increased this to 49%. Examination of the marginal benefits of the extra screening tests revealed that the trisomy 18 screen was better at detecting chromosomal abnormalities than the Down's screen and that it would, therefore, be worthwhile adding this to all screening programs. Atypicality proved to be much less effective and it is suggested that this screen should only be applied in the early days of a screening program until sufficient data is available to design specific screens.

Adolescent↗
PubMed1998

Newborn hearing screening: the great omission.

OBJECTIVE: The advent of technologic improvements in assessing the hearing of newborn infants has made possible the implementation of universal newborn hearing screening. Furthermore, selective screening based on high-risk criteria fails to detect half of all infants with congenital hearing loss. Although universal screening has been recommended by the National Institutes of Health and the Joint Committee on Infant Hearing Screening, data to support this recommendation have been incomplete, and the recommendation has been seen as without solid foundation by many in the pediatrics field. This study was designed to assess the feasibility, accuracy, and cost-effectiveness of a hospital-based hearing screening program for all newborns. METHODOLOGY: Between 1992 and 1996, hospitals in Colorado with 100 or more births per year were targeted to participate in universal hearing screening of newborns. To date, 26 of 52 targeted hospitals, ranging in size from 40 to 3500 births per year, have implemented universal screening. A total of 41 796 infants were screened between 1992 and 1996. Screening was performed using automated auditory brainstem response, otoacoustic emission testing, or conventional auditory brainstem response, with follow-up testing performed on those infants who failed initial screening. RESULTS: Of 41 796 infants screened at birth, 2709 failed initial screening, and of 1296 who have completed reevaluation, 94 have been identified with congenital sensorineural hearing loss (75 bilateral) and an additional 32 identified with conductive hearing loss (14 bilateral). The frequency of bilateral congenital hearing loss requiring amplification therefore is shown to be at least 1 in every 500 newborns. During the study period, an additional 17 children with significant hearing loss not identified until >/=18 months of age were reported voluntarily; all 17 had been born at hospitals not participating in newborn hearing screening. The false-positive rate for the screening program to date in Colorado is calculated to be 6%, but evolving technology has resulted in improvements to as low as 2%. Positive predictive value of an abnormal screen result is shown to be at least 5%, and as high as 19%, with improving technology. The sensitivity of newborn screening is demonstrated to be at or near 100%. Costs of screening are compared with other screened congenital diseases; although the true cost per child for newborn hearing screening is significantly higher than screening tests performed on blood, the much higher incidence of congenital hearing loss results in a comparable cost per case diagnosed when compared with hypothyroidism or phenylketonuria, for example. The feasibility of early intervention is demonstrated, with amplification by the use of hearing aids being the catalyst for effective treatment. Finally, the costs of screening and early intervention are compared with the monetary savings in avoiding delayed and therefore intensive therapy and intervention for children not diagnosed at birth. The true cost of screening for one newborn is shown to be between $18 and $33, with an average cost of $25 per infant. The cost per case of congenital hearing loss diagnosed is approximately $9600. A model for cost predictions and subsequent intervention savings is presented, and recovery of all screening costs is demonstrated after only 10 years of universal screening in Colorado. CONCLUSIONS: Universal newborn hearing screening is feasible, beneficial, and justified, as indicated by the frequency of the disease, the accuracy of screening tests, the ability to provide early intervention, the improved outcomes attributable to early amplification, and the recovery of all screening costs in the prevention of future intervention costs. Furthermore, the incidence of bilateral congenital hearing loss is alarming, and is, in fact, many times greater than the combined incidence of all newborn screening tests currently performed on blood samples.

Audiometry, Evoked Response↗
PubMed2001

Beyond randomized controlled trials: organized mammographic screening substantially reduces breast carcinoma mortality.

BACKGROUND: The efficacy of mammographic screening in the reduction of breast carcinoma mortality has been demonstrated in randomized controlled trials. However, the evaluation of organized screening outside of research settings (so-called "service screening") faces unique methodologic and conceptual challenges. The current study describes the evaluation of organized mammography screening in a clinical setting and demonstrates the benefit obtained from service screening in two Swedish counties. METHODS: In the group of subjects ages 20--69 years, there were 6807 women diagnosed with breast carcinoma over a 29-year period in 2 counties in Sweden and 1863 breast carcinoma deaths. All patients were classified from patient charts based on their screening status (i.e., whether they had been invited to undergo screening and whether they actually had undergone screening). The number of women who lived in the 2 counties during the 29-year study period was provided by the Central Bureau of Statistics. Breast carcinoma-specific mortality was compared across three time periods: 1) 1968--1977, when no screening was taking place because mammography had not been introduced; 2) 1978--1987, the approximate period of the Two-County randomized controlled trial of screening in women ages 40--74 years; and 3) 1988--1996, when all women in the 2 counties ages 40--69 years were invited to undergo screening (service screening). When comparing breast carcinoma mortality in screened women with that in women diagnosed before screening was introduced, a correction for self-selection bias was incorporated to prevent overestimation of the benefit of screening. RESULTS: The mortality from incident breast carcinoma diagnosed in women ages 40-69 years who actually were screened during the service screening period (1988--1996) declined significantly by 63% (relative risk [RR] = 0.37; 95% CI, 0.30--0.46) compared with breast carcinoma mortality during the time period when no screening was available (1968--1977). The mortality decline was 50% (RR = 0.50; 95% CI, 0.41--0.60) when breast carcinoma mortality among all women who were invited to undergo screening (nonattendees included) was compared with breast cancer mortality during the time period when no screening was available (1968--1977). The reduction in mortality observed during the service screening period, adjusted for selection bias, was 48% (RR = 0.52; 95% CI, 0.43--0.63). No significant change in breast carcinoma mortality was observed over the three time periods in women who did not undergo screening. This group included women ages 20--39 years because these individuals were never invited to undergo screening, and women ages 40--69 years who did not undergo screening (not invited during the randomized trial or invited during the second and third time periods but declined). CONCLUSIONS: Regular mammographic screening resulted in a 63% reduction in breast carcinoma death among women who actually underwent screening. The policy of invitation to organized screening with mammography appears to have reduced breast carcinoma mortality by 50% in these 2 counties.

Adult↗
PubMed2003

Examination of the communication practices between state newborn screening programs and the medical home.

BACKGROUND: As outlined in the Newborn Screening Task Force report published in August 2000, the newborn screening system is more than just testing, but also involves follow-up, diagnosis, treatment, and evaluation. As such, multiple professional and public partners need to be adequately involved in the system to help ensure success. In addition, newborn screening programs are state-based; therefore, policies and procedures vary from state to state. Historically, there has been little uniformity between state newborn screening programs. OBJECTIVE: To examine the communication practices of state newborn screening programs in the United States, particularly in relation to the medical home. METHODS: A facsimile survey of program staff in all US newborn screening programs. Survey data were collected in August 2000. RESULTS: All 51 programs participated. States were questioned about whether or not they had a procedure to identify the infant's medical home before the child's birth. Twelve states (24%) indicated that there was a procedure in place, whereas 39 states (76%) indicated that either no procedure existed or that they were unsure. In contrast, all state programs (except 1) indicated they notified the primary care physician about abnormal results and the need for follow-up. In addition, state programs reported that primary care physicians have responsibilities within the newborn screening system, particularly related to communicating with parents about screen-positive results and coordinating the collection of a second specimen. Thirty states reported that they directly notified parents of screen-positive infants of results and the need for follow-up as well. In regard to informing parents about newborn screening, 45% of states indicated that primary care physicians had some responsibility in informing parents about newborn screening. Most often, parents were informed about newborn screening just before specimen collection, and the most commonly used techniques to educate parents were informational brochures and conversation. Thirty-five states reported that they engaged in long-term tracking of infants after diagnosis confirmation. Only about half of these states provided long-term tracking of all of the conditions included in their state's newborn screening test panel. Of these 35 states that engaged in long-term tracking, 25 reported that they requested patient information from the primary care physician and/or subspecialist about ongoing treatment and follow-up. CONCLUSIONS: Newborn screening roles and responsibilities vary tremendously between states. Improvements in communication and better-defined protocols are needed, particularly between state newborn screening programs and the medical home. Many states identified the medical home as having significant responsibilities related to the short-term follow-up of screen-positive infants. Identification of the correct medical home before testing would help to reduce unnecessary time and frustration for state newborn screening programs, especially in the follow-up of infants that are difficult to locate. In addition, primary care physicians (ie, the medical home) need to have appropriate and ongoing involvement, including a mechanism to provide feedback to their state newborn screening program. This is particularly important given the adoption of tandem mass spectrometry by an increasing number of states, and the likely expansion of newborn screening in the future. Recommendations include the following: Primary care physicians should have appropriate and ongoing involvement in the newborn screening system and should be appropriately represented on state newborn screening advisory committees. States should develop protocols to identify the medical home before heelstick screening. States should work with families, primary care physicians, and prenatal health care professionals to develop well-defined systems for pretesting education of parents. All newborn screening results (both positive and negative) should be sent to the infant's medical home. If results are not received by the medical home, efforts should be made to obtain results. Medical homes and subspecialists should submit follow-up information on screen-positive infants and infants with confirmed diagnoses to the state newborn screening program, regardless of the existence of state requirements to do so, and efforts to build enhanced direct communication systems, linking state newborn screening programs to community-based medical homes, should continue.

Communication↗
PubMed2005

Pediatricians' attitudes toward expanding newborn screening.

OBJECTIVE: Traditional population screening focuses on conditions for which early treatment prevents severe morbidity and mortality. The classic example in pediatrics is newborn screening for phenylketonuria, which began in the 1960s. In 1968, Wilson and Jungner delineated 10 criteria that would justify population screening. These criteria have been reaffirmed by many newborn screening task forces as the standard for adding conditions to newborn screening programs. Today, however, some newborn screening programs are expanding to include conditions that may not meet all of the traditional screening criteria. Little is known about pediatricians' attitudes toward expanding screening. We examine the attitudes of pediatricians and pediatric subspecialists toward screening for cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), fragile X, and type 1 diabetes. METHODS: A cross-sectional survey was conducted of 600 pediatricians, including those who are members of the section of genetics, endocrinology, pulmonology, and neurology of the American Academy of Pediatrics. For each condition, pediatricians were queried about (1) testing high-risk infants, (2) newborn screening, and (3) population screening or testing beyond the newborn period. Demographic data were also collected. RESULTS: A total of 232 (43%) of 537 eligible pediatricians returned surveys. More than 75% support testing high-risk infants for all conditions except type 1 diabetes. CF was the only condition for which >50% supported newborn screening. Newborn screening was preferred over screening older infants for all conditions except fragile X. Subspecialty affiliation did not have a significant impact with respect to attitudes about testing high-risk children, newborn screening, or screening beyond infancy. We analyzed the data by the number of patients with the queried condition under the physician's care and by the number of affected family members. Neither aspect was significant. We also analyzed the data by gender, by year of residency graduation, and by geographic location. None of these factors revealed significant differences in responses. For each condition, 8% to 41% of physicians would personally choose to test their own infant. We found that physicians' opinion about what they would want for their own children correlated with their attitude about population newborn screening. Those who would personally choose testing of their own infants were highly likely to support newborn screening for CF (98%), DMD (94%), and fragile X (98%), but only 78% of those who would personally opt for newborn screening of type 1 diabetes would also endorse population-based screening. This was statistically significant for each condition. Those who would choose not to test their own infants were significantly less likely to support newborn screening of the general population. One third of those who did not want to test their own newborns for CF supported population screening, whereas only one fifth supported DMD and fragile X population screening. For type 1 diabetes, 98% of those who would not personally choose newborn testing did not want it offered as a population screening program. CONCLUSIONS: Most physicians support diagnostic genetic testing of high-risk children but are less supportive of expanding newborn screening, particularly for conditions that do not meet the Wilson and Jungner criteria. Willingness to expand newborn screening does not correlate with professional characteristics but rather with personal interest in testing of their own children.

Attitude of Health Personnel↗
PubMed1997

Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs and benefits of introducing screening based on tandem mass-spectrometry (tandem MS) for a wide range of disorders of amino acid and organic acid metabolism in the UK. To evaluate screening for cystic fibrosis, Duchenne muscular dystrophy and other disorders which are tested on an individual basis. HOW THE RESEARCH WAS CONDUCTED. Systematic searches were carried out of the literature on inborn errors of metabolism, neonatal screening programmes, tandem MS-based neonatal screening technology, economic evaluations of neonatal screening programmes and psychological aspects of neonatal screening. Background material on the biology of inherited metabolic disease, the basic philosophy, and the history and current status of the UK screening programme was also collected. Relevant papers in the grey literature and recent publications were identified by hand-searching. Each paper was graded. For each disease an aggregate grade for the state of knowledge in six key areas was awarded. Additional data were prospectively collected on activity and costs in UK neonatal screening laboratories, and expert clinical opinion on current treatment modalities and outcomes. These data were used to construct a decision-analysis model of neonatal screening technologies, comparing tandem MS with the existing phenylketonuria screening methods. This model determined the cost per additional case identified and, for each disease, the additional treatment costs per case, and the cost per life-year saved. All costs and benefits were discounted at 6% per annum. One-way sensitivity analysis was performed showing the effect of varying the discount rate, the incidence rate of each disorder, the number of neonates screened and the cost of tandem MS, on the cost per life-year gained. RESEARCH FINDINGS. The UK screening programmes for phenylketonuria and congenital hypothyroidism have largely achieved the expected objectives and are cost-effective. Current concerns are the difficulty of maintaining adequate coverage, perceived organisational weaknesses, and a lack of overview. For many of the organic acid disorders it was necessary to rely on data obtained from clinically-diagnosed cases. Many of these diseases can be treated very effectively and a sensitive screening test was available for most of the diseases. Except for cystic fibrosis, there have been no randomised controlled trials of the overall effectiveness of neonatal screening. Despite the anxiety generated by the screening process, there is strong parental support for screening. The effects of diagnosis through screening on subsequent reproductive behaviour is less clear. Conflicts exist between current concepts and the traditional principles of screening. The availability of effective treatment is not an absolute prerequisite: early diagnosis is of value to the family concerned and, to the extent that is leads to increased use of prenatal diagnosis, may help to reduce the overall burden of disease. Neonatal screening is also of value in diseases which present early but with non-specific symptoms. Indeed, almost all of the diseases considered could merit neonatal screening. The majority of economic evaluations failed to incorporate the health benefits from screening, and therefore failed to address the value of the information which the screening programmes provided to parents. The marginal cost of changing from present technology to tandem MS would be approximately 0.60 pounds per baby at a workload of 100,000 samples a year, and 0.87 pounds at 50,000 samples per year. The ability to screen for a wider range of diseases would lead to the identification of some 20 additional cases per 100,000 infants screened, giving a laboratory cost per additional diagnosis of 3000 pounds at an annual workload of 100,000 babies per year.(ABSTRACT TRUNCATED)

Cost-Benefit Analysis↗
PubMed1995

Do general practitioners influence the uptake of breast cancer screening?

OBJECTIVES: To investigate the relative importance of patient and general practice characteristics in explaining variations between practices in the uptake of breast cancer screening. DESIGN: Ecological study examining variations in breast cancer screening rates among 131 general practices using routine data. SETTING: Merton, Sutton, and Wandsworth Family Health Services Authority, which covers parts of inner and outer London. MAIN OUTCOME MEASURE: Percentage of eligible women aged 50-64 who attended for mammography during the first round of screening for breast cancer (1991-1994). RESULTS: Of the 43,063 women eligible for breast cancer screening, 25,826 (60%) attended for a mammogram. Breast cancer screening rates in individual practices varied from 12.5% to 84.5%. The estimated percentage list inflation for the practices was the variable most highly correlated with screening rates (r = -0.69). There were also strong negative correlations between screening rates and variables associated with social deprivation, such as the estimated percentage of the practice population living in households without a car (r = -0.61), and with variables that measured the ethnic make-up of practice populations, such as the estimated percentage of people in non-white ethnic groups (r = -0.60). Screening rates were significantly higher in practices with a computer than in those without (59.5% v 53.9%, difference 5.6%, 95% confidence interval 1.1 to 10.2%). There was no significant difference in screening rates between practices with and without a female partner; with and without a practice nurse; and with and without a practice manager. In a forward stepwise multiple regression model that explained 58% of the variation in breast cancer screening rates, four factors were significant independent predictors (at P = 0.05) of screening rates: list inflation and people living in households without a car were both negative predictors of screening rates, and chronic illness and the number of partners in a practice were both positive predictors of screening rates. The practice with the highest screening rate (84.5%) contacted all women invited for screening to encourage them to attend for their mammogram and achieved a rate 38% higher than predicted from the regression model. Breast cancer screening rates were on average lower than cervical cancer screening rates (mean difference 14.5%, standard deviation 12.0%) and were less strongly associated with practice characteristics. CONCLUSIONS: The strong negative correlation between breast cancer screening rates and list inflation shows the importance of accurate age-sex registers in achieving high breast cancer screening rates. Breast cancer screening units, family health services authorities, and general practitioners need to collaborate to improve the accuracy of the age-sex registers used to generate invitations for breast cancer screening. The success of the practice with the highest screening rate suggests that practices can influence the uptake of breast cancer screening among their patients. Giving general practitioners a greater role in breast cancer screening, either by offering them financial incentives or by giving them clerical support to check prior notification lists and contact nonattenders, may also help to increase breast cancer screening rates.

Breast Neoplasms↗