Newborn Blood Screening Program

After 24 hours of life, all newborns have a blood test. You have been supplied with a "pink" piece of paper. Learn why we need that paper, and why it is so important.

Newborn Screening (Click here to go to NYS site)

Newborn screening is the most widely performed type of genetic testing in the United States today. Newborn screening programs exist in all fifty states, the District of Columbia, Puerto Rico, and the Virgin Islands. The goal of newborn screening is to detect infants affected by conditions for which prompt application of confirmed interventions can prevent or reduce disease, disability, and/or death.
As a result of the Human Genome Project, the discovery of the genetic variations that underlie inherited disorders and the technology to detect them are expanding rapidly. These developments will present state screening programs with new testing methods and expanded lists of disorders for which testing is possible.
Most states, including New York, have added tests to their newborn screening panels without formal criteria or processes to guide them. Many commentators recommend that newborn screening programs form advisory committees composed of medical and laboratory professionals and community participants to establish criteria for screening tests and to review screening test panels and program outcomes.
Most states, including New York, mandate newborn screening and do not require parental consent. New York and other states exempt from newborn screening children whose parents have religious objections to it. Commentators disagree over whether parental consent to newborn screening should be required.
Some benefits of newborn screening are reduced morbidity and mortality of children and cost savings to society through early prevention and treatment of childhood disease. Some of the risks of newborn screening include parental anxiety about false positive results; harm that can be caused to the parent-child relationship by parental misperceptions about the meaning of a child’s carrier status; and the possibility that children will be subjected to needless, and potentially risky, medical interventions or monitoring.
Most newborn screening programs, including New York’s program, store residual newborn blood samples (bloodspots) and use them for research. Some commentators maintain that it is appropriate to use residual screening samples for research if the samples are anonymized. Others contend that ethical concerns about the use of residual newborn blood samples may be greater than for other tissue samples obtained in the clinical context because the collection of newborn screening samples is mandated by law. Commentators also have discussed the appropriate research uses of identified and coded newborn samples and whether parental consent for and/or notification about the research use of residual newborn screening samples should be required.

Conclusions and Recommendations of the Task Force

Basic Requirements for Newborn Screening Tests

New York’s Newborn Screening Program panel should be restricted to tests that detect congenital disorders characterized by serious and irreparable harm that can be avoided or minimized only by prompt application of confirmed medical interventions. The analytical and clinical validityof the screening tests also must be confirmed.

Statutory Authorization for New York’s Newborn Screening Program

New York Public Health Law § 2500-a should be amended to delete the names of individual disorders screened for by the Newborn Screening Program. The law should designate the Commissioner of Health to specify in regulations those congenital disorders for which screeningshould be performed.

Informing Parents about Newborn Screening

The Commissioner of Health should promulgate regulations to require the Newborn Screening Program to provide educational materials about screening to prenatal care providers, as well as to hospitals and institutions of birth. Prenatal care providers should be required to provide and be available to discuss these materials during the course of prenatal visits. Program materials should be multilingual and at appropriate reading levels for a general audience. They should explain the purpose of screening and provide a description of the disorders screened for, their population incidence, and the follow-up process for infants with a positive screen test result.

Mandatory Newborn Screening

New York’s Newborn Screening Program should be mandatory for all infants born within the state, provided that several conditions are met: (1) all screening tests must meet the criteria described above in the recommendation concerning the basic requirements for newborn screening tests; (2) parents must be informed and receive educational materials about the program, its goals, and the screening process; and (3) the state must ensure that newborns identified as positive in screening tests are promptly diagnosed and that identified newborns and their families have access to follow-up medical care and counseling related to the disorder, regardless of their ability to pay. New York Public Health Law § 2500-a should be amended to remove the right of parents to assert religious objections to screening.

Follow-up Evaluation and Diagnosis of Screen-Positive Newborns

The Newborn Screening Program should ensure that follow-up testing and diagnostic evaluation of newborns who test positive on a screening test is rapid and readily accessible, to maximize treatment benefits for affected newborns and to minimize potential anxiety associated with an initial false positive test result.

Follow-up Medical Care for Newborns of Confirmed Positive Newborns

New York State should ensure that newborns detected to have a congenital condition by newborn screening receive necessary long-term medical and preventive care, into and through adulthood, regardless of ability to pay. The Newborn Screening Program should facilitate efforts to ensure that affected newborns identified by the program obtain necessary and appropriate medical care. The program should assist treatment centers in locating and treating children who are lost to follow-up.

Establishment of a Newborn Screening Advisory Committee

New York’s public health regulations should establish a newborn screening advisory committee to act in an advisory capacity to the Commissioner of Health and the Newborn Screening Program. The committee should include outside professional and community representatives and should be independent from the screening program. It should meet at least annuallyto consider new screening tests, solicit community input, and evaluate program infrastructure, policies, and outcomes.

Review and Implementation of Newborn Screening Tests

A newborn screening advisory committee, and ad hoc specialty subcommittees established by it, should review all tests currently on or under review for New York’s screening panel, as well as potentially valuable new tests, and make recommendations to the Commissioner. For tests for which a confirmed medical benefit has not been sufficiently demonstrated, tests should be viewed as human subject research and should require parental informed consent. These tests should be subject to review by an institutional review board to determine the information that should be provided as part of obtaining parental informed consent. All new screening tests should be subject to periodic follow-up evaluation to determine test accuracy and effectiveness of medical interventions.

Universal Performance of Newborn Screening

Newborn screening tests should be performed for all newborns, rather than targeted to specific minority populations perceived to be at higher-than-average risk for a particular disorder.

Financing of the Newborn Screening Program

A permanent, stable funding source is neededto enable the program to consider additional tests, implement new tests as needed, consider changes in testing technologies, improve processes and follow-up evaluation, and support the activities of the advisory committee.

Research Use of Anonymized Newborn Bloodspots

The Newborn Screening Program, consistent with the recommendations in Chapter 7 concerning research use of samples obtained in the clinical context, should permit the use of anonymized samples for research. The program should inform parents that residual bloodspots may be anonymized and used for quality assurance activities or research. Parents should be informed of the potential research value of the samples and of the impossibility of linking research results to any individual newborn.

Research Use of Identified Newborn Bloodspots

Research use of identified newborn bloodspots should be permitted in accord with recommendations in Chapter 7 concerning the research use of identified samples obtained in the clinical context. In addition, investigators who seek to use identified newborn blood samples for research should demonstrate why unidentified samples or alternate sample sources would not suffice. The use of identified samples should require recontact by the New York State Department of Health and informed consent of parents for each research use. The New York State Department of Health should not release samples that retain identifying data to researchers outside the department except for rare circumstances in which the research is directly relevant to the health of a specific newborn.

Research Use of Coded Newborn Bloodspots

Research use of coded newborn bloodspots should be permitted in accord with recommendations in Chapter 7 concerning the research use of coded samples obtained in the clinical context. The use of coded samples should require recontact by the New York State Department of Health to obtain the consent of parents for the future research use of the samples.

Policies for Storage of Newborn Bloodspots

The Newborn Screening Program should establish a formal policy for the storage of residual identified and anonymized bloodspots. The policy should specify potential uses for stored bloodspots and a maximum period of time for which samples may be maintained with personal identifiers.

Notification of Parents of Newborn Carrier Status

When carrier status for a recessive genetic disease is determined as an incidental finding of a newborn screening test, New York’s Newborn Screening Program should report that finding to the authorized physician. Ideally, parents of carrier newborns should be informed of that result and offered appropriate education, counseling, and testing by appropriately trained and credentialed professionals.

Informed Consent

Informed consent to a medical procedure is an agreement to allow a medical procedure to go forward after having been advised of relevant facts necessary to make that agreement an intelligent one. Relevant facts include the patient’s diagnosis, the nature and purpose of the proposed procedure, and the risks and benefits of, and the alternatives to, the procedure.
Obtaining a patient’s informed consent to medical procedures is both a legal necessity and a basic requirement of medical ethics, and most commentators maintain that the requirement of informed consent applies to decisions about predictive genetic testing. Some of the issues that commentators recommend that health care providers should discuss with their patients as part of obtaining informed consent to predictive genetic testing include: (1) the purpose of the test; (2) a description of the testing process; (3) the accuracy of the genetic test and the meaning of its results; (4) the risks and benefits of, and alternatives to, genetic testing; and (5) confidentiality issues.
It is unclear whether New York’s general law on informed consent to medical procedures covers predictive genetic testing. However, in 1996 and 1997, New York enacted laws that require persons performing predictive genetic tests to obtain the individual’s written informed consent prior to testing. The laws require the consent form to contain some, but not all, of the information commentators have recommended for informed consent to predictive genetic testing.
Multiplex genetic testing is predictive genetic testing for more than one condition in a single testing session. Some commentators argue that health care providers should obtain full informed consent from patients for each test in a multiplex testing panel. Others contend that a patient’s generic consent to all of the tests in the panel would be sufficient if the consent process highlights broad concepts and common-denominator issues for all of the tests.
Commentators disagree about the proper method for obtaining informed consent to predictive genetic tests for gene variants that have been identified as having multiple, seemingly unrelated health effects (pleiotropic genetic tests). One contends that health care providers have an obligation to disclose to patients the risks associated with learning information about all of the conditions detected by the tests and must provide counseling and other support services as required by testing protocols for each individual condition. Another maintains that outside of the reproductive genetic testing context and situations where there are "special concerns" about the psychological state of a patient to be tested, health care providers need only inform their patients about the different clinical uses of the test and need not provide any special counseling or support services.
Stored tissue samples, which today number at about 282 million in the United States, are used by medical researchers as their principal source of human biological materials. These tissues are most commonly collected during clinical medical procedures, and many of the patients from whom they are collected are not informed that their tissues will be stored and used for research.
In some circumstances, federal regulations governing research involving human subjects require researchers to obtain a subject’s informed consent before performing research on the subject’s identified or coded tissue samples removed in the clinical context. These regulations do not require informed consent if the tissue samples have been anonymized. New York’s statutes concerning research involving human subjects specifically exempt tissues removed in the clinical context from the statutes’ coverage.
Although most commentators agree that researchers should obtain a subject’s informed consent before performing research on the subject’s identified tissue sample, commentators disagree about whether, or what type of, consent is necessary before researchers may perform research on a subject’s coded or anonymized tissue samples.

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Newborn Blood Screening Program