U.S. newborn screening system guidelines: Statement of the council of regional networks for genetic services

Therrell, Bradford L.; Panny, Susan R.; Davidson, A.; Eckman, James R.; Hannon, W. Harry; Henson, Mandy; Hillard, M.; Kling, S.; Levy, Harvey L.; Meaney, F. John; McCabe, Edward R.B.; Mordaunt, V.; Pass, Kenneth A.; Shapira, Emmanuel; Tuerck, Judith M.

doi:10.1016/0925-6164(92)90005-p

Cited by 58 publications

(36 citation statements)

References 1 publication

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“…1,2,4,5 Follow-up of the initial screen-positive newborn with diagnosis confirmation (true positive versus false positive), discussion with and education of the family, overseeing access to pediatric subspecialty care and services, and designation of the appropriate medical home for ongoing pediatric care have been well articulated. However, other than anecdotal information, little has been written concerning the satisfaction of physicians with the communication aspects of their newborn screening program.…”

Section: Discussionmentioning

confidence: 99%

Survey of Pediatrician Practices in Retrieving Statewide Authorized Newborn Screening Results

Desposito¹,

Lloyd-Puryear

Tonniges

et al. 2001

Pediatrics

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ABSTRACT. Objective. Mandated state newborn screening programs for the approximately 4 million infants born each year in the United States involves the following 5 components: 1) initial screening, 2) immediate follow-up testing of the screen-positive newborn, 3) diagnosis confirmation (true positive versus false positive), 4) immediate and long-term care, and 5) evaluation of all of the components of the system, including process and outcomes measures. Smooth functioning of this system requires pretest education of the parents as well as education and involvement of all health care providers who interact with the newborn screening system. Although extensive literature is available concerning public health aspects, technical standards/protocols, and discussion of the interfaces among the 5 components of the system, little information is available regarding physician awareness, involvement, and interactions with the system. The objective of this study was to determine, through a survey, primary care pediatricians' satisfaction with their state's newborn screening program. This was reflected in survey questions that asked how pediatricians were notified of the results of newborn screening tests that were performed on infants in their practice.Methods. Two thousand questionnaires were sent to primary care pediatricians in all 50 states and the District of Columbia regarding their practices in retrieving statewide newborn screening results. Of the 2000 surveys, 574 (29%) responses from primary care pediatricians who care for at least 1 to 5 newborns each week form the basis of this report. Also reported are the commentaries of the physicians concerning their specific practices, overall assessment of the system, and ideas for improvement.Results. Physicians reported their general satisfaction with the newborn screening system's ability to retrieve screen-positive infants for follow-up testing. However, communication and partnership with the primary care pediatrician regarding accessibility and timely retrieval of newborn screening test results was deemed less than optimal. Thirty-one percent of respondents indicated that notification for screen-positive test results was greater than 10 days, whereas 26% indicated that they do not receive the results of screen-negative tests and need to develop office procedures (contact birth hospital or state laboratory) to obtain results. Twenty-eight percent indicated that they do not actively seek results of newborn screening for their patients and presume that "no news is good news." Barriers to retrieving test results included that infants were born at hospitals where the physician does not have privileges, there were new transfers to the practice, infants were born in other states, personnel time was needed to track results, and there was a lack of a cohesive communication/reporting system that includes the primary care physician as an integral partner in the newborn screening communication process. Ninety-two percent of physicians would welcome an enhanced state system with d...

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Section: Discussionmentioning

confidence: 99%

Survey of Pediatrician Practices in Retrieving Statewide Authorized Newborn Screening Results

Desposito¹,

Lloyd-Puryear

Tonniges

et al. 2001

Pediatrics

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“…Furthermore, because there was limited activity in the area of coordinated data collection and analysis, it seemed unlikely that robust scientific evidence would be available in the near future. Therefore, reliance on experts and their ability to apply first principles 5,6 was required. Guiding principals for newborn screening and criteria were established for evaluating conditions.…”

Section: Discussionmentioning

confidence: 99%

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

Watson¹,

Mann²,

et al. 2006

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The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. The expert panel identified 29 conditions for which screening should be mandated. An additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel, they are clinically significant and revealed with screening technology but lack an efficacious treatment, or they represent incidental findings for which there is potential clinical significance. The process of identification is described, and recommendations are provided.

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“…NDBS program development is continuing to expand in developing countries, particularly in the Asia Pacific (Padilla and Therrell 2007;Padilla et al 2010), Middle East and North Africa (Saadallah and Rashed 2007;Krotoski et al 2009), and Latin America (Borrajo 2007), providing early identification of conditions for which timely interventions can help eliminate or reduce associated mortality, morbidity, and disabilities. NDBS systems are generally viewed as having six components that include education, screening, follow-up, diagnosis, treatment/management, and evaluation/continuous quality improvement (Therrell 2001;Pass et al 2000;Therrell et al 1992). Data that document related activities, including the extent to which clinical genetic services such as genetic counseling are available and utilized, are important for quality assessment and improvement.…”

Section: Introductionmentioning

confidence: 99%

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

et al. 2011

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To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services. These data should serve to inform programs and lead to improved NDBS follow-up services. Collaborations were established with three state NDBS programs that reported systematically tracking genetic counseling services to newborns and their families identified through NDBS. A study protocol and data abstraction form were developed and IRB approvals obtained. Data from three state NDBS programs on a total of 151 patients indicated that genetic services are documented systematically only by metabolic genetic services; as expected higher for congenital adrenal hyperplasia than congenital hypothyroidism. Endocrinology patients were often counseled by physicians. While systematic tracking of genetic counseling services may be desirable for quality assurance of NDBS follow-up services, current systems do not appear conducive to this practice. Clinical records are not typically shared with NDBS programs and tracking of follow-up clinical genetic services has not been generally defined as a NDBS program responsibility. Rather, tracking of clinical services, while recognized as useful data, has been viewed by NDBS programs as a research project. The associated IRB requirements for patient-related research may pose an additional challenge. National guidance for NDBS programs that define quality genetic service indicators and monitoring responsibilities are needed. US experiences in this regard may provide information that can assist developing programs in avoiding tracking issues.

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U.S. newborn screening system guidelines: Statement of the council of regional networks for genetic services

Cited by 58 publications

References 1 publication

Survey of Pediatrician Practices in Retrieving Statewide Authorized Newborn Screening Results

Survey of Pediatrician Practices in Retrieving Statewide Authorized Newborn Screening Results

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

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