Newborn Screening Program Practices in the United States: Notification,
Research, and Consent
Kenneth D. Mandl, MD, MPH*‡; Shlomit Feit*; Cecilia Larson, MD§; and Isaac S. Kohane, MD, PhD*‡
ABSTRACT. Objective. To define current practice among US newborn screening programs for notification of results, research, and consenting procedures.
Methods. A telephone survey of all US newborn screening program supervisors.
Results. All 51 programs participated. All states re-ported abnormal results to the infant’s physician, and some also reported to the hospital and parents. Cases with abnormal results were tracked to different end-points but usually (92.1%) at least until a follow-up ap-pointment was made. A total of 66.6% of programs can communicate with programs in other states; 9.8% enable families to suppress reporting of results to the infant’s physician. No state has a mechanism for parents to pre-vent results from entering the medical record. Parents or physicians who request results are often authenticated by providing their name (52.9%). Many programs (45.1%) report only to physicians and require just their name (43.5%), an identification number (17.4%), a letter (26.1%), or a parent’s signature (26.1%). A total of 70.6% retain residual blood samples; of these, only 8.3% store them completely devoid of patient identifiers. A total of 49.0% of programs aggregate data for research. In 16.0% of these, the data are publicly available. In 24.0%, re-searchers obtain approval at their own institution; in 24.0%, researchers obtain approval through the state lab-oratory Institutional Review Board. In 74.5% of pro-grams, parents are notified but not asked for consent before collection of the sample; 19.6% neither notify par-ents nor obtain consent before screening.
Conclusions. There is wide variation in practice among the US newborn screening programs. Because the programs collectively manage a comprehensive nation-wide genomic databank, careful consideration of how information technology and high-throughput genomic analysis are used will be essential to allow progress in clinical care, public health, and research while protecting individual privacy.Pediatrics2002;109:269 –273;neonatal screening, medical records, privacy, genetic screening.
S
tate and regional programs screen the approxi-mately 4 million infants who are born in the United States each year for a cluster of genetic conditions.1 Testing is done on blood obtained by heel stick and stored on pieces of filter paper. Results of many of the tests performed on the filter papersamples must be communicated to patients and phy-sicians emergently so that additional testing, dietary modification, or other treatments may be initiated. Because these filter paper blood samples are stored beyond the neonatal period, newborn screening pro-grams collectively manage a genomic databank for the younger segment of the US population.2 Infor-mation about an infant’s genetic variation may be of substantial interest to parents and physicians but also to researchers, health insurers, and marketers.
We conducted a survey of the nation’s newborn screening programs to define the current range of practice for consenting, notification, and research. An understanding of current procedure will help form the basis for development of the policies and public health infrastructure proposed in the New-born Screening Taskforce.3
METHODS
A survey of screening laboratories was conducted by telephone in July and August 1999. Respondents were supervisors of new-born screening programs or state laboratories in each of the 50 states and the District of Columbia. They were identified through program Web sites or through telephone calls to the state depart-ments of public health. The supervisors were sent a letter describ-ing the project and then called by 1 of the authors (S.F.). The Children’s Hospital Committee on Clinical Investigation ap-proved the research protocol. Verbal consent was obtained from each respondent before the interview began.
The survey consisted of 34 questions and took 10 to 15 minutes to administer. Topic areas included consenting procedures, noti-fication, case tracking, confidentiality, authentication, storage of blood samples, and research policies. Survey responses were en-tered into a relational database, and results are reported descrip-tively as frequencies. The data are reported in aggregate without identifiers for individual states.
RESULTS
Supervisors from all of the state laboratories and the District of Columbia responded to our telephone survey, making our total sample size 51.
Notification
Normal Results
Policies for notification of the screening test results differ in all states depending on whether the result is normal or abnormal. Two states do not notify at all if results are normal. The remaining states notify the birth hospital (44 of 49), the infant’s doctor (27 of 49), the infant’s parents (1 of 49), or some combination thereof. The most frequent means of reporting nor-mal results is by letter (48 of 49); fax, e-mail, and computer disk are each used by 1 state. The time frame for notification of a normal result ranges from From the *Children’s Hospital Informatics Program, Children’s Hospital,
Boston, Massachusetts; ‡Department of Pediatrics, Harvard Medical School, Boston, Massachusetts; and §New England Regional Newborn Screening Program, Jamaica Plain, Massachusetts.
Received for publication Apr 10, 2001; accepted Jul 11, 2001.
Reprint requests to (K.D.M.) Division of Emergency Medicine, Children’s Hospital, 300 Longwood Ave, Boston, MA 02115.
immediately after the result is obtained up to 1 month later (Fig 1).
Abnormal Results
The variation in procedures for notification of ab-normal results is much wider. The combinations of methods used—telephone call, letter, certified letter, and fax—are shown in Table 1. The recipient of the abnormal results varies as well. All states report to the infant’s physician with some also reporting to the birth hospital, the infant’s parents, and/or a geneti-cist (Table 2). Twenty-six states use a uniform method for reporting results, and 25 states vary the method according to criticality of the results. For borderline results, 21 of 25 states send a letter to the infant’s doctor, 7 of 25 send a letter to the birth hospital, and 7 of 25 send letters to both the birth hospital and the infant’s doctor. When results are strongly positive, states most often contact the doc-tor—24 of 25 via telephone, 10 of 25 via letter, 9 of 25 via both letter and telephone call, 6 of 25 via fax to the doctor, and 6 of 25 via telephone call and fax.
Intra-agency Communication
In some states, all of the newborn screening re-sponsibilities, from analyzing the samples to notify-ing the appropriate people of the results, lie with the state laboratory. However, in other states, a newborn screening follow-up program receives all results from the state or contract laboratory, communicating and tracking them. Thirteen states provided informa-tion about how results are transferred between the laboratory and the newborn screening program. The most common method used is telephone call (8 of 13) followed by mail and telephone call (2 of 13), e-mail only (1 of 13), telephone call and fax (1 of 13), and letter (1 of 13).
Case Tracking
Nearly all of the states (47 of 51) have a procedure in place to follow up the reporting of an abnormal test result: 1 state tracks until an appointment has been made, 1 tracks until an appointment has been kept, 23 states track until diagnosis has been either confirmed or denied, 22 states track until treatment has been initiated, and 9 continue periodic follow-up
after treatment has been initiated. Five states termi-nate tracking once the results have been given to the infant’s doctor.
The newborn screening programs are able to track cases through contact with the infants’ physicians. Nineteen states receive notification from the doctor who treated the infant—12 by letter and 7 by tele-phone call. Nineteen other states make a follow-up telephone call to the doctor. Thirty states track the time elapsed from when results first become avail-able to when families, doctors, or hospitals are first notified, and 38 track the time from when results first become available to when the infant is treated.
Some families are difficult to locate. Fifty of 51 states do not make additional efforts to track down the family if the results are normal, although 1 state will mail a letter if the family relocated to a different state and left a forwarding address. When the results are abnormal, 34 of 51 newborn screening programs will contact the newborn screening program in an-other state if the family gave a forwarding address. Otherwise, the newborn screening program staff will speak to family contacts (14 of 51); send a public health nurse to the family’s last known address (10 of 51); mail a certified letter to the last known address (6 of 51); or contact the department of health, registry of motor vehicles, and use any possible means to find the infant (11 of 51). Three states report never having had trouble locating a family.
Confidentiality
Of great concern for newborn screening and other genetic testing is confidentiality of test results: who will see them, how they will be stored, and who has access to them. With regard to the primary use of the newborn screening data—the detection of treatable newborn disorders—there is often very little re-course for parents who want to keep results private. In 46 states, the birth hospital will receive a hard copy of the test results, and in 33 states the infant’s doctor will receive one. Very few (5 of 51) states have a mechanism whereby parents can suppress the
re-Fig 1. Time frame for notification of normal results.
TABLE 1. Method of Notification of Abnormal Results
Telephone Call
Letter Certified Letter
Fax Number of States
X X 26
X 13
X X X 5
X X 2
X X X 2
X 1
X X 1
X X X X 1
TABLE 2. Target for Results Reporting
Birth Hospital
Infant’s Doctor
Infant’s Parents
Geneticist Number
X 20
X X 16
X X 3
X X 6
X X X 4
porting of results to their infant’s physician. In 4 states, although there is no formal mechanism, con-sideration will be given on a case-by-case basis to parents’ requests for suppression of newborn screen-ing results, and in 1 state the parents must sign a form requesting that their infant’s physician not be notified. In no state is there a formalized mechanism whereby a parent can completely prevent the report-ing of newborn screenreport-ing results in the infant’s med-ical record.
Authentication of the Patient
With regard to patients’ obtaining their own re-sults, there is wide variation in the policies of differ-ent states concerning how test results are requested, what modalities may be used to request results, what information must be provided about the patient, and what identifying information the person requesting results must provide. In 1 state, test results may not be requested. In the other states (Table 3), test results may be requested by telephone (43 of 51), letter (40 of 51), fax (34 of 51), e-mail (18 of 51), or voice response system (6 of 51). All states require the infant’s name to give results, but they all also require at least 1 additional piece of information (Table 4), such as the infant’s date of birth (47 of 50), birth hospital (25 of 50), infant’s mother’s name (29 of 50), infant’s moth-er’s address (7 of 50), infant’s mothmoth-er’s Social Secu-rity number (9 of 50), infant’s mother’s telephone number (4 of 50), infant’s birth weight (1 of 50), medical record number (4 of 50), or infant’s labora-tory identification number (9 of 50).
Authentication of Other Requesters
States often have several methods for authenticat-ing the people who request results (Table 5). Twenty-three newborn screening programs allow test results to be given only to physicians who request the infor-mation, whereas 27 states allow information to be given directly to parents who request it. However, in 7 of those states, the parent must have the result interpreted by the infant’s doctor or hospital, whereas in 20 states, someone at the screening pro-gram interprets the results. Five states use a voice response system in which each doctor must use his or her unique personal identification number. In 29 states, a parent or a doctor who requests results must
state his or her name, whereas in 10 states, not only must a parent or doctor state his or her name, but also the newborn screening program will then call back to the telephone number listed for said person to verify the identity. Twelve states will release re-sults when they receive a request written on official letterhead, and 6 states will report results to a phy-sician with a signed release from the infant’s parents; 2 states will release results to the parents with a signed release. Four states will give results to a phy-sician who is known to the newborn screening pro-gram. One state requires a copy of a Social Security card or a driver’s license. Twenty-four of the 50 states that allow results to be requested keep track of who has requested screening results, and 25 track to whom they have been reported.
Research and Public Health
Storage of Blood Samples
Thirty-six of the 51 newborn screening programs retain the residual blood samples, at least for a short time. Of these, 31 store samples with the individual patient identifiers still on them, 2 of 36 store them completely deidentified, and 3 of 36 use a coding system that prevents the researcher from knowing the identity of the patient but that can be decoded should the need arise. Although 12 states store blood samples for no officially stated reason, the remainder of the states store blood samples for specified pur-poses, such as future testing (13 of 36), testing re-quested by the family in a case in which the child dies (7 of 36), quality control to check errors in test-ing (8 of 36), or research (5 of 36). In 25 states, aggregate data from the newborn screening program are used for research.
Approval
The approval processes for a researcher to be given access to these aggregate data differ. In 4 of 25 states, researchers need not seek specific permission to use these data, as aggregate data are open to the public. Researchers must go through the Institutional Re-view Board at their own institution in 6 of 25 states and through an Institutional Review Board at the state laboratory or newborn screening program in 16 of 25 states. Researchers must submit a request de-tailing the proposed research to the director of the newborn screening program in 5 of 25 states, and the senior staff members of the newborn screening pro-gram review each specific research proposal in 2 of 25 states.
The approval processes for public health officials to gain access to these data are the same: aggregate data are publicly accessible (6 of 25), health officials in a department other than the newborn screening program must go through their own Institutional Review Boards (3 of 25), health officials must go through an institutional review board at the state laboratory or newborn screening program (14 of 25), health officials must submit a request to the director of the newborn screening program (4 of 25), and the senior staff members at the newborn screening pro-gram review the request (2 of 25).
TABLE 3. Accepted Methods for Requesting Results
Telephone Letter Fax E-mail Voice Response
System
Number
X X X X 13
X X X 13
X 6
X 3
X X X X X 3
X X 3
X X 3
X 1
X X X 1
X X 1
X X X 1
X X X 1
Consent
In most programs (38 of 51), parents are notified but not asked to give consent for collection of the sample for mandatory testing. Ten states neither no-tify parents nor ask for consent in screening their newborns. Before collecting specimens from new-borns, only 3 states require parents’ signed consent. In 2 states, parental refusal of newborn screening is not permitted, but in the majority of states (27 of 51) parents may, for religious reasons, refuse screening. Parents may verbally refuse screening for religious reasons in 5 states and for any reason in 1 state. In 15 states, parents must sign a waiver refusing screening.
DISCUSSION
High-throughput testing for genetic disease is be-coming widely disseminated, as is the information technology that will make the testing results accessi-ble. Duly authorized parties as well as others will likely have access. Screening programs will need to evolve to integrate these technologies. We found a
wide variation in practice patterns among the new-born screening programs in the 50 states and the District of Columbia, findings that update and com-plement previous work.4
Screening programs seem not yet to be fully pre-pared to 1) optimally leverage information technol-ogy to report results to patients and physicians and 2) manage a population-based genomic databank while addressing issues of human subjects and pa-tient confidentiality.
The Newborn Screening Taskforce recognizes that the “environmental context within which these pro-grams were established has changed dramatically over the past 10 years”3and has issued an extensive set of recommendations. These recommendations in-clude developing new procedures for consenting pa-tients, inventing new testing protocols, establishing a public health infrastructure that connects newborn screening programs to the medical home, and in-creasing the role of the family in the entire spectrum of the process.
TABLE 4. Authentication of the Patient
Infant’s Name
Infant’s Date of Birth
Birth Hospital
Infant’s Birth Weight
Infant’s Mother’s
Name
Mother’s Address
Mother’s Telephone
Number
Mother’s Social Security Number
Infant’s Medical Record Number
Laboratory Identification
Number
Number
X X 11
X X X X 10
X X X 6
X X X 3
X X X 3
X X X X X X 2
X X X X X X 2
X 1
X X 1
X X X X X X X 1
X X X X 1
X X X X 1
X X X X X X X X X 1
X X X X 1
X X X X X 1
X X X X X 1
X X X X X X 1
X X X X X 1
X X X X X 1
X X X X X 1
TABLE 5. Authentication of Person Requesting Results
Call Back to Verify
Voice Response
System
State Name
Person Known
Written Request on
Official Letterhead
Signed Release From
Parents
Copy of Social Security Card
or Driver’s License
Number
X 19
X 6
X 4
X X 4
X 3
X 3
X X 3
X X 2
X X 1
X X 1
X X X X 1
X X X 1
X X 1
Networked databases5with Web-based front ends would improve the notification practices by enabling increased access to newborn screening results as well as other personal medical data. The increased access to information by caregivers and families could aid considerably in notification, case tracking, and fol-low-up. The CORN report, “US Newborn Screening System Guidelines II: Follow-up of Children, Diag-nosis, Management, and Evaluation,”6recommends that every normal result be sent to the infant’s health care provider within 7 days and that failure of receipt of that result trigger an action. Networked databases have the capability also to improve communication among programs when infant residences change. Our results show that this sort of communication does not occur consistently, with only two thirds of states having formal mechanisms to contact other state screening programs. Not until databases and automation are in place will such result be achiev-able.
Authentication procedures for physicians and pa-tients who request data have been appropriately weak to maximize access to results of critical medical importance; most programs give out results to phy-sicians who call with a limited set of patient demo-graphic information. As testing programs expand to include results of a less critical nature, the patient should be in greater control of the release of personal genomic data.7Approaches to informed consent nec-essarily must evolve8,9 as newborn screening pro-grams broaden from public health service providers to custodians of a population-based genomic data-bank that is used for research.10 Currently, most states do not allow families to suppress the reporting of results to physicians, nor do they require consent for testing or storage of samples. Biological samples unlinked to identifiers have traditionally been made available for research without Institutional Review Board approval. There are 2 important consider-ations when dealing with these types of data. First, anonymization of medical record databases—strip-ping them of patient identifiers so that clinical data can be aggregated for research— has limitations. Data sets stripped of most identifiers often have a high vulnerability to reidentification through merges with other publicly available databases.11–13Second, genomic data form a fingerprint of sorts, and people can be identified from the data themselves. These problems with reidentification must be accounted for when developing procedures for consent and anony-mization.
CONCLUSION
We found evidence of wide variation in practice patterns among the newborn screening programs in the 50 states and the District of Columbia. Although additional work is needed to relate the variability to issues of quality and ethical conduct, these data help to inform the process of implementing the Newborn Screening Task Force recommendations. Because the newborn screening programs collectively manage a nationwide comprehensive genomic databank, care-ful consideration of how information technology and high-throughput genomic analysis are used is essen-tial to allow progress in clinical care, public health, and research while protecting individual privacy.
ACKNOWLEDGMENT
This work was supported, in part, by the National Library of Medicine Next Generation Internet Initiative Contract N01-LM-9-3536.
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DOI: 10.1542/peds.109.2.269
2002;109;269
Pediatrics
Kenneth D. Mandl, Shlomit Feit, Cecilia Larson and Isaac S. Kohane
Research, and Consent
Newborn Screening Program Practices in the United States: Notification,
Services
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DOI: 10.1542/peds.109.2.269
2002;109;269
Pediatrics
Kenneth D. Mandl, Shlomit Feit, Cecilia Larson and Isaac S. Kohane
Research, and Consent
Newborn Screening Program Practices in the United States: Notification,
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