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American Academy of Pediatrics
ELECTRONIC ARTICLE

Survey of Pediatrician Practices in Retrieving Statewide Authorized Newborn Screening Results

Franklin Desposito, Michele A. Lloyd-Puryear, Thomas F. Tonniges, Francisco Rhein and Marie Mann
Pediatrics August 2001, 108 (2) e22; DOI: https://doi.org/10.1542/peds.108.2.e22
Franklin Desposito
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Michele A. Lloyd-Puryear
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Thomas F. Tonniges
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Francisco Rhein
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Marie Mann
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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 direct communication to the primary care pediatrician as well as the birth hospital.

Conclusion. Pediatricians recognize and endorse the benefits of newborn screening and believe that they play an important role in the efficient functioning of the system. An enhanced physician partnership with the newborn screening program will enable the timely follow-up of the screen-positive newborn for confirmatory testing. All test results need to be communicated to the pediatrician in a timely and efficient manner: 7 days for screen-positive results and 10 to 14 days for all results. Newborn screening test results of new patients who enter the practice should be available at the time of the first well-infant visit, ideally by 2 weeks of age. The majority of primary care pediatricians acknowledge the need to establish office protocols for the retrieval of newborn screening test results and would welcome an enhanced direct communication system with the state newborn screening program.

  • newborn screening
  • pediatrician survey

Newborn screening for the 4 million infants who are born each year in the United States is a public health program aimed at the identification of conditions for which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, and disabilities. This screening takes place within the context of a newborn screening system and involves the following components1,,2 1) initial screening, 2) immediate follow-up testing of the screen-positive newborn, 3) screening confirmation and diagnosis, 4) initial and long-term treatment and management, and 5) evaluation of all of the components of the system, including process and outcomes measures with continuous quality improvement. Pretest education of parents is an integral component of the system. Physician awareness and education and input into the system are crucial to its efficient functioning, particularly in the areas of the immediate retrieval of the screen-positive infant, ensuring diagnosis confirmation (true positive versus false positive), timely referral for needed pediatric subspecialty care, parental guidance and education, and ensuring the provision of an appropriate medical home3for the infant.

The Committee on Genetics of the American Academy of Pediatrics4 acknowledged a number of logistical issues related to physician practices in the rapid and efficient follow-up of initial screen-positive infants and the need for documentation of the results of state-mandated newborn screening tests. The report concluded that the pediatrician “should include in the patient record the screening status of all children, including transfer patients, entering the practice for comprehensive care.”

The procedures for obtaining results from state-authorized newborn screening systems vary from state to state. All report results to the birth hospital. The physician of record of the infant at the time of birth may not be routinely notified, depending on the address label placed on the newborn screening test request form. Under some circumstances, the actual primary care pediatrician for the infant will not routinely receive this information. Most systems are designed so that positive tests are tracked aggressively through the birth hospital and the newborn's physician of record by the state newborn system's follow-up program to afford rapid diagnosis confirmation and institute timely treatment. Although all state programs have systems in place for notification and follow-up of screen-positive newborns, little information is available regarding the communication loop and notification of the infant's primary care provider. Pediatricians' anecdotal concerns include the need for gaining access to test results of patients who are born at other hospitals, transfers from other practices or from other states, documentation for the medical record, and the possibility of medical legal risks. An assumption that no report implies a negative screen result seems to be a widely held belief expressed by approximately 80% of respondents, who do not routinely follow-up on newborn screening results.

In preparation for the meeting of the Newborn Screening Task Force sponsored by the Health Resources and Services Administration and the American Academy of Pediatrics (May 10–11, 1999),5 a survey was mailed to 2000 board-certified pediatricians in all 50 states and the District of Columbia in January 1999 (see Appendix). As previous reports have focused on the public health and technical aspects of newborn screening, the specific aims of this survey were to 1) determine current practices of primary care pediatricians in retrieving results, both positive and negative, of state newborn screening tests; 2) assess the effectiveness and timeliness of state newborn screening systems in providing results to the primary care pediatrician; and 3) assess the satisfaction of primary care pediatricians with their practice procedures in gaining access to the results of newborn screening tests.

The results of this survey were intended to be observational, perceptional, and attitudinal. No attempt was made to obtain an objective assessment of the actual time involved in receiving both positive and negative screen results but to determine current physician practices and satisfaction with the system. In addition, the survey requested information regarding how the communications arm of the system might enhance physician practices. An analysis of 574 satisfactorily completed surveys form the basis of this report.

METHODS

The screening survey was mailed to 2000 board-certified pediatricians in all 50 states and the District of Columbia in January 1999. A mailing list of primary care pediatricians was obtained from the Department of Community Pediatrics of the American Academy of Pediatrics. Seventy-five to 100 questionnaires were sent to pediatricians in each of the larger states (California, Illinois, Massachusetts, New Jersey, New York, Ohio, Pennsylvania, and Texas), and 25 to 40 questionnaires were sent to pediatricians in each of the other states and the District of Columbia. Only 1 mailing was sent, and the respondents were not contacted regarding their responses to individual survey questions. An area was available for extensive commentary about their personal practice experiences with the system, and more than 50% of the returns contained handwritten comments in addition to the responses to the survey questions. These comments also are incorporated in this report.

RESULTS

Demographic Analysis

Of the 2000 mailed questionnaires, 659 surveys (33%) were returned within 4 months. Only surveys from primary care pediatricians who see at least 1 to 5 newborns per week in their practice settings were analyzed. Accordingly, 574 (29%) of the original survey group form the basis of this analysis.

Surveys from respondents in the following 9 states represented the majority of the responses (310 [54%]): California (56), New York (55), New Jersey (36), Texas (35), Pennsylvania (32), Massachusetts (26), North Carolina (25), Ohio (24), and Illinois (21). Eight states contributed an additional 114 entries so that 74% of the responses were representative of pediatricians in the aforementioned 17 states. Surveys were received from all states except for Delaware, Montana, and North Dakota.

Demographic results are shown in Table 1. A total of 191 (33%) of the responding pediatricians attended 1 to 5 newborns per week; 130 (23%) averaged 6 to 10 per week, and 253 (44%) were the primary care pediatrician for more than 10 newborns per week in their practice setting. In the last group, many individual pediatricians reported on the activities of their multigroup practice. Several large practice groups voluntarily reported their office practice procedures for gaining access to results of newborn screening, including weekly calls or faxes to the state laboratory or birth hospital, and a checklist, including newborn screening results, for all newborns who enter the practice for ongoing care.

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Table 1.

Demographic Characteristics (Based on a Total of 574 Responses)

The majority of pediatricians characterized their practice settings as being suburban (54%), 23% served in an inner-city hospital-based clinic or private practice, 25% practiced in metropolitan urban areas, and 14% practiced in a small town or rural setting. For the larger states, slightly higher percentages of the responding pediatricians characterized their practices to be in inner-city areas (30%), whereas practice settings in metropolitan urban and suburban areas were similar. A corresponding smaller percentage practiced in small towns or rural areas. Pediatricians who had practices in suburban areas and small towns in which they were the primary care pediatrician for the infant in the birth hospital as well as providing ongoing well-infant care and where there were only a few delivery facilities noted the least difficulty in retrieving all positive and negative newborn screening reports in a timely manner. Contact with the birth hospital and communication on the local level between the birth hospital and the primary care physician was deemed to be excellent with little need for change. Essentially all states send the results of newborn screening to both the birth hospital and the physician of record of the newborn infant. Usually, the physician's name is provided, although the address of the physician's office may not be provided. Conversely, the barriers recognized by pediatricians in inner-city, major urban or suburban practice settings with numerous birthing facilities included gaining access to results for infants who were born in a hospital where they do not have privileges or those seen by another physician at birth. Additional cited concerns included infants who transfer to their practice, infants who are born in adjacent or other states (particularly noted by physicians in the northeast and mid-Atlantic states), and office personnel time needed in tracking results by calling either the birth hospital or the state laboratory. Particular barriers to early retrieval among respondents with inner-city practices included name changes (the report may be filed under the mother's name and the infant's last name subsequently changed) and difficulty in locating the family for retesting of screen-positive reports (no telephone, incorrect address). These barriers are listed in Table 2.

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Table 2.

Barriers to Gaining Access to Newborn Screening Results

Responses to Physician Notification of Screen-Positive Results

Question: Are You Routinely Notified of Initial Positive Newborn Screening Results Performed on a Newborn in Your Care or Designated to Be in Your Care?

Essentially all physicians (90%) responded positively to this question and were pleased that the system efficiently identified and retrieved screen-positive infants for confirmatory testing. None of the responding physicians was aware of any missed true-positive cases but were varied in their comments about being “in the loop” and the length of time and effort required to obtain a hard copy of the screening test results for the patient's record.

Question: Average Time to Be Notified of an Initial Screen-Positive Result?

This question was intended to illicit an overall sense of the timeliness of the notification of the primary care pediatrician of the initial screen-positive test result. An actual time study was not requested. These results are summarized in Table 3. Of the 517 respondents, 355 (69%) indicated that they were notified of initial screen-positive results within 10 days of submission of the specimen; 262 (50%) indicated notification within 7 days. This was considered by the pediatrician to be good to excellent. A total of 162 surveys (31%) indicated that notification of the primary care pediatrician for initial screen-positive results was greater than 10 days (11–14 days: 16%; between 15 and 21 days: 10%; more than 3 weeks: 5%). Respondents characterized this as fair to poor. Twenty-six respondents (4.5%) indicated that they were not routinely notified of positive test results, and 31 (5.5%) were uncertain as to the time of notification. In general, respondents who indicated longer time intervals to notification and those who indicated that they were not routinely notified cited that the results were sent to the birth hospital and that the physician of record of the infant at birth took additional time before the primary care pediatrician was identified and notified. In many instances within this group, the parents notified their pediatrician of the screen-positive results before their physician was notified. This is consistent with state protocols whereby the physician is unknown or unresponsive. Nonetheless, much of the indicated confirmatory testing was accomplished through the birth hospital or the state newborn screening follow-up team in a timely manner (65%) and at times before the involvement of the primary care pediatrician. Although most cited a need to have a system in place for direct identification and notification of the primary care pediatrician, the vast majority of respondents believed that the system worked well as far as retrieval of the initial screen-positive infant for repeat testing, although notification/communication to the primary care pediatrician was less than optimal. As noted previously, communication barriers between the newborn screening system and the primary care pediatrician was more common in larger states (Massachusetts, New York, Pennsylvania) and among inner-city urban practices.

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Table 3.

Average Time for Notification of Initial Screen-Positive Result

Responses to Physician Notification of Screen-Negative Results

In contrast to notification for screen-positive results, the responses regarding screen-negative results were much less consistent and showed distinctive interstate variability. A total of 148 of the 574 respondents (26%) indicated that they were not routinely notified of screen-negative results. Four percent were notified by 7 days, 19% by 14 days, 22% by 21 days, 13% by 28 days, and 16% greater than 4 weeks. Respondents from Massachusetts (25 of 26), Mississippi (4 of 6), New Jersey (22 of 36), New York (18 of 55), and Rhode Island (3 of 3) indicated that negative test results were not routinely sent to their offices. This necessitated a system of calling the birth hospital or the state laboratory for results. Access to test results generally could be accomplished but at the cost of staff time and effort. This aspect of the efficiency of the newborn screening system was characterized as fair to poor in the majority of surveys (see Table 4).

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Table 4.

Average Time for Notification of Screen-Negative Test Results

Responses to the Vignette

“You have just completed the first well-infant examination on a 2-week-old infant delivered in a hospital in which you do not have nursery privileges. The examination is normal (no unusual historical findings are elicited from its caretakers and no abnormal physical findings are present). Which of the following best describes how you would successfully retrieve statewide-authorized newborn screening results?”

The responses to the vignette are summarized in Table 5. The responses to the question were almost equally divided among 3 categories: contacting the state laboratory (35%); contacting the birth hospital (28%), and making no active attempt to obtain the results of the newborn screening (28%). Responses from states such as Maryland and Texas, which have mandatory second screens at 2 weeks of age, generally noted that physicians awaited the result of the second screen, which was sent from their office. The major reasons for the absence of an active procedure to obtain newborn screening test results included 1) “no news is good news,” 2) “the state system does an excellent job and takes care of this,” and 3) a combination of “the infant is healthy and lack of a report implies the test results were negative.” Several physicians ask the parents whether they have been notified of an abnormal test result. Most comments centered on a realization that documentation of all test results (both negative and positive) was important and that they should/would modify their office protocols to obtain hard copies for the patient's record. Pediatricians whose office practices include contacting the birth hospital or the state laboratory generally were satisfied with this procedure but noted the time and effort of office staff to obtain the results. Others noted their satisfaction with state systems that have automated telephone answering services that use a physician's personal identification number with a direct call and fax report back to the office.

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Table 5.

Retrieval of Newborn Screening Results at 2 Weeks (Response to Vignette)

Response to Benefit From an In-Place State Information System

Ninety-two percent (527 of 574) of respondents indicated a need for a statewide information system that would allow easy and timely retrieval of the results of newborn screening tests. An electronic system with direct computer access and linkage to the physician's office was thought to be ideal. The majority of physicians who were satisfied with their current intercommunication system were from smaller states (Iowa, New Mexico, Wisconsin).

DISCUSSION

The important role of the primary care pediatrician regarding newborn screening has been reviewed in a number of publications.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. In this survey, we focused on physician notification and accessibility of newborn screening test results as a reflection of the efficiency of this aspect of the newborn screening system, the primary care pediatrician being an integral partner in the efficient and timely identification, follow-up confirmatory testing, and management.

In general, the results were laudatory of the state systems' ability to retrieve screen-positive infants for follow-up testing in an appropriate time frame. Sixty-nine percent of the responding pediatricians indicated notification of screen-positive results within 10 days of testing. This compares favorably to national standards,1,,2 which recommend turnaround notification time by 5 to 7 days for initial screen-positive infants. Abnormal values for certain disorders (eg, galactosemia, congenital adrenal hyperplasia) need to be conveyed as quickly as possible to prevent the potential early morbidity and mortality from such conditions. Many of the physicians who reported longer time intervals noted that other parts of the system (birth hospital, designated hospital physician, state newborn screening follow-up personnel) were effective in timely retrieval even when the physician was not in the “immediate loop.” Essentially, all respondents noted a need to be involved in the follow-up testing of all infants who enter their practice and the need for an enhanced statewide communication system. This mandate was emphasized further by the pediatricians' response to the survey question regarding their practice in retrieving screen-negative newborn test results. Twenty-eight percent of the respondents noted that they do not routinely receive screen-negative results of infants in their practice and need to initiate contact with the birth hospital or state laboratory in obtaining results for documentation in the patient's medical record. Of concern was the response of an additional 28% of the pediatricians that lack of a report equated to a negative test result (“no news is good news”). A number of respondents indicated that the questionnaire itself raised awareness of the need to have documentation of the results of newborn screening (both positive and negative) on all infants who enter the practice and indicated a need to establish a protocol for the office. One physician summarized her concerns as follows: “One missed screen-positive infant is a potential tragedy and although in (her state) the system is aggressive and vigilant in tracking and retrieving all positive newborns, the system has to work more effectively with the physician.”

The survey also confirmed the barriers to timely retrieval of newborn screening results by the infant's primary care pediatrician. These barriers were most evident in inner-city settings and large metropolitan and suburban areas with a number of birthing facilities. These include 1) infants born in a hospital where the physician does not have nursery privileges (test results are sent to the birth hospital in all states; most states also send results to the physician of record of the newborn but not necessarily to the office of the primary care pediatrician), 2) new transfers to the practice and infants born in other states, 3) infant name changes, and 4) staff time and effort to call hospital or state laboratory to obtain test results. Ninety-two percent of the survey respondents indicated a need to have an enhanced communication system with the state laboratory and/or birth hospital to receive timely reports on all infants in their practice.

A number of limitations are inherent in this type of survey. Although a return questionnaire percentage of 29% involving 574 primary care pediatricians may be reasonably reflective of prevailing attitudes and perceptions, there may be a bias in those who completed the questionnaire, reflecting interest in this area. Statewide responses, although generally consistent, showed differences in responses depending on the demographics of the physician practice (inner-city urban, suburban, small town) and numbers of newborns entering the practice. In addition, the survey questions reflected the pediatricians' perception of how the newborn screening system communicated with them in their practice setting; no attempt was made to conduct a real-time survey regarding notification and retrieval of test results. The survey did not address the issues of follow-up testing for unsatisfactory specimens or different time responses related to the level of abnormality seen in the initial screen value (ie, “panic” results versus need for follow-up results). State programs have in place protocols that aggressively attempt to follow up on the clearly abnormal screen-positive infant.

CONCLUSION

Given the results of this survey and understanding the limitations noted above, we can draw the following conclusions and recommendations:

  1. Primary care pediatricians should establish office protocols for following up on and gaining access to newborn screening results.

  2. Pediatricians recognize and endorse the benefits of newborn screening and believe that they can play an important role in the efficient functioning of the system.

  3. All initial screening test results, for infants cared for from birth, need to be communicated to the pediatrician: 7 days for screen-positive results and 10 to 14 days for all results. Newborn screening test results of new patients who enter the practice should be available at the time of the first well-infant visit, ideally by 2 weeks of age.

  4. In general, most pediatricians are confident in their state's newborn screening system to identify positive cases in a timely manner.

  5. A number of logistical barriers to gaining access to test results are summarized in Table 2.

  6. Augmented communication systems (including electronic systems) are needed to interface the primary care pediatrician directly with the state newborn screening system to enhance timely retrieval of screen-positive newborns, to gain access to follow-up test results, and to provide documentation for all test results, both positive and negative.

The primary care pediatrician plays an important role in the newborn screening process. This role begins with the education of the parents regarding the importance of newborn screening; the retrieval, counseling, and follow-up testing for screen-positive newborns; the assurance of enrollment in appropriate specialty care for short- and long-term management of the infant with a disorder diagnosed through newborn screening and coordination of this care; the provision of a medical home for all infants and children with special needs; assisting the public health system in reporting health outcomes; and the long-term evaluation of the newborn screening program.

Currently, a number of states are reviewing and adding tests to their newborn screening panel. In parallel with these decisions, educational awareness and enhanced direct communication systems with the primary care pediatrician will be required.

ACKNOWLEDGMENT

This project was supported by Maternal Child Health Bureau–Health Resources and Services Administration Grant MCJ341008A.

Footnotes

    • Received January 29, 2001.
    • Accepted April 9, 2001.
  • Reprint requests to (F.D.) Department of Pediatrics, MSB F-540, UMDNJ-New Jersey Medical School, 185 South Orange Ave, Newark, NJ 07103. E-mail: desposfr{at}umdnj.edu

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Survey of Pediatrician Practices in Retrieving Statewide Authorized Newborn Screening Results
Franklin Desposito, Michele A. Lloyd-Puryear, Thomas F. Tonniges, Francisco Rhein, Marie Mann
Pediatrics Aug 2001, 108 (2) e22; DOI: 10.1542/peds.108.2.e22

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Survey of Pediatrician Practices in Retrieving Statewide Authorized Newborn Screening Results
Franklin Desposito, Michele A. Lloyd-Puryear, Thomas F. Tonniges, Francisco Rhein, Marie Mann
Pediatrics Aug 2001, 108 (2) e22; DOI: 10.1542/peds.108.2.e22
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