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This staff paper was discussed at the June 2006 meeting. It does not represent the official views of the Council or of the U.S. government.

Ethical Questions About the Current U.S. Newborn Screening System

Staff Discussion Paper

By Richard Roblin, Ph.D.

Each year, the U.S. Newborn Screening System (NBS System), through different programs in each state and the District of Columbia, tests approximately four million U.S. newborns for a group of genetic disorders. The operation of this nationwide testing system raises ethical and public policy questions. Although some of these questions have been debated since such testing started in the early 1960s, the recent recommendation that all states mandate testing for an expanded, uniform panel of 29 disorders has brought increased attention and discussion to this area.

This staff working paper focuses Council attention on several specific questions with regard to operation of the NBS System. (1) What is the most appropriate ethical framework for assessing the operation of a system with an expanding number of tests? What role, if any, should parental informed consent play? (2) Does the operation of the current NBS system as a whole do more “good” than “harm”? Do we need additional information on the psychological impact of NBS on parents and their children? (3) What is the future of the “Don’t test (screen) if you can’t treat” guideline in NBS programs? (4) Is unequal testing by different state NBS programs inherently unfair or inequitable? (5) Is the confidentiality of screening test data adequately protected? Should state law or federal law provide the basic protection of the confidentiality of information from newborn screening programs? The paper concludes with options for further Council deliberation and/or action on these issues.

The NBS System of testing for genetic disease conditions involves multiple steps. First, a heel-stick blood drop is obtained from each newborn 24-48 hours after birth and dried on a piece of filter paper. Then, for many tests, the concentration of specific chemical compounds in this sample is measured in the laboratory and compared to a normal range.1 Test results outside the normal range are reported to the newborns’ primary care physician or pediatrician, who communicates them to the parents and helps them to make arrangements for follow-up testing. Newborns identified through follow-up testing as having a genetic disease are referred to metabolic specialists who develop and monitor a specific treatment plan that is then implemented by the parents.

One of the best-studied genetic disease conditions is too much of the amino acid phenylalanine in the blood.2 Individuals with specific gene mutations are unable to metabolize phenylalanine normally, accumulate high levels of phenylalanine in their blood and brain, and can become mentally retarded if untreated. Treatment of such individuals with a special diet, low in phenylalanine, can prevent much of the mental retardation in such cases of phenylketonuria (PKU). The best results are obtained when the special diet is started as soon after birth as practicable, so there is an excellent rationale for performing this screening test on newborns.

The application of new technologies such as tandem mass spectrometry (for measuring the concentration of blood metabolites like phenylalanine) to newborn screening makes it possible to measure the concentrations of multiple metabolites in a sample in a single test run.3 Thus, for a reasonable cost, one can now screen for many additional abnormal metabolite concentrations in each newborn heel-stick blood sample. However, since the health departments of the 50 states and the District of Columbia determine which specific tests to perform, different state NBS programs test for different conditions.

“In 2000, pediatric professional organizations, public health programs and the federal government evaluated newborn screening and concluded that a uniform national panel should be developed and reflect the best available data and expert opinion. The ACMG (American College of Medical Genetics) was commissioned by the Health Resources Services Administration (HRSA) to conduct an analysis of the literature and gather expert opinion to provide recommendations for a uniform NBS panel.”4

The ACMG report, Newborn Screening: Toward a Uniform Screening Panel and System, was issued for public comment in March, 2005.5 It recommended that the states mandate a uniform panel of tests for 29 conditions. It also called attention to the fact that the U.S. NBS System has multiple components, and that components of the system beyond just performing the tests need to be strengthened. Several of the conditions on the recommended uniform panel are rare and have incidences of less than 1 case in every 100,000 births (about 10 times less frequent than PKU). The recommendations in the ACMG report have been supported by the March of Dimes, the American Academy of Pediatrics (AAP), and the HHS Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children and many states are adopting its recommendations to implement an expanded testing program.

In the course of a presentation on Bioethics and American Children at the Council’s December 8, 2005 meeting, Dr. Norman Fost recalled his early experience with public policies for newborn screening programs, particularly for hyperphenylalanemia, in these words:

“In 1973, I was invited by Dr. Barton Childs to be part of a commission — a committee at the Institute of Medicine to look into the PKU story. This was my first exposure to national policy.

The problem was, it turned out, that the PKU test was the worst test in the history of the world. It had a sensitivity and specificity that have not been matched to the best of my knowledge. That is, the test had a five percent true positive rate. It had a 95 percent false positive rate. That is, a child with a positive test, confirmed by a whole blood assay, had a 20 to 1 chance of being normal.

This was not appreciated for many years. So many normal children, we now know, were started on a restricted diet, and it turned out that a phenylalanine-restricted diet was as harmful, or more harmful, as a diet with excess of phenylalanine. That is, this essential amino acid, when withheld from normal children, resulted in brain damage due to starving of brain cells, and every other cell in the body, because phenylalanine is a part of so many proteins.

So many children — we don't know how many — were made retarded by this program. Some were killed. In fact, kwashiorkor developed in America in the PKU program in children who had profound protein malnutrition because of the restricted diet.”6


Dr. Fost’s contention, that children identified as positives by newborn hyper-phenylalanemia screening programs could be heterogeneous and that some children were harmed by dietary interventions that helped other children, was confirmed by other observers during the period 1965-1970.7

Informed by that experience, Dr. Fost expressed concern in his Council presentation that, by pursuing an expanded menu of NBS tests, the U.S. NBS System ran the risk of making similar mistakes that would harm children in 2006 and beyond.

So we now already have many states, including Wisconsin that does routine testing without consent, without prior research, for dozens of conditions using tandem mass spectrometry. And I predict, unless there is some dramatic change in the way we think about these things, the way we do these things, that multi-array DNA testing will occur within the next few years, as soon as the cost comes down to make it efficient to do it.

This, to me, is a calamity involving every child in America. The amount of mischief, the amount of harm, psychosocial harm, which will occur to families and children, not to mention medical harm, is, in my view, going to be quite extensive.

And, worse, 20 years from now we won't know what harm has been done, because in the absence of systematic studies we won't know which children were helped and which were harmed, because we won't know whether — like in the PKU program, we won't know if a positive test meant that that was a child who was destined to become brain damaged or dead, or whether it was a false positive test that had poor predictive value.6


In order to obtain additional information in this area, at its February 3, 2006 meeting, the Council heard presentations by Dr. Michael Watson, Executive Director of the American College of Medical Genetics8 and Dr. Jeffrey Botkin,9 an author (along with Dr. Fost and others) of a critique of the ACMG report and its conclusions (see reference 4). This staff working paper highlights several ethical and public policy issues that emerged during these three presentations.

I. What is the most appropriate ethical framework for assessing an expanding U.S. NBS System?

NBS programs have been traditionally viewed as “public health” programs. They make possible the early identification of children with abnormal metabolic conditions leading to confirmatory diagnosis and possible treatment. NBS is seen as a routine component of childbirth, and in most states no parental consent is obtained before obtaining the newborn’s blood sample and the initiation of testing. Historically, the testing for these programs has been the responsibility of the health departments of each of the 50 states and the District of Columbia, further strengthening the view that these are “public health” programs. When such programs were started back in the 1960s, and included only a few tests, perhaps the public health view was appropriate. Is the “public health” program framework still appropriate to a complex system that tests 4 million newborns each year for 29 different conditions?

A framework of criteria for “public health” screening programs was described in1968 by Wilson and Jungner at the World Health Organization (WHO)10 (see Table 1).

Table 1: Wilson & Jungner Screening Program Criteria (WHO, 1968)

1. The condition is an important health problem
2. There is an accepted treatment for cases identified
3. The condition is recognizable at an early stage
4. The natural history of the condition is known
5. There is an agreed upon policy on whom to treat as patients
6. Harm from a screening program is small in relation to benefits
7. Facilities for diagnosis and treatment should be available
8. There should be a suitable test
9. The screening test should be acceptable to the population
10. The costs and effectiveness of the screening should be balanced in relation to expenditure on medical care as a whole

An alternative framework is to present newborn screening, particularly for rare conditions where there is still uncertainty about the natural history of the untreated condition and the safety and efficacy of therapeutic (restrictive diet) interventions, as research programs.11 This could apply to a number of the conditions in the list of 29 tests recommended in the ACMG report because these conditions are rare and experience with possible treatments is limited. The research program framework embodies the strong presumption that parental informed consent is required. The New England Newborn Screening Program currently does this by offering a mandated panel of 10 tests and offering parents who give their consent the opportunity to participate in two optional research studies, one to test for cystic fibrosis and one to test for 19 additional disorders.12 This framework alerts parents that they and their newborns are involved in an experimental program to determine the best method for treating the newborn’s condition.

Which of these frameworks is ethically preferable for an expanding NBS System? If the “public health” program view of the NBS System is to be retained, how should the Wilson-Jungner criteria be modified so that they are relevant to the operation of the present day NBS System?

II. “Goods” and possible “harms” from the current U.S. NBS System?

In pursuing the good that NBS programs can do, we ought to carefully avoid doing harm to normal children and their parents in the process. Some of the “goods” of NBS programs are easy to articulate and measure. For example, we can estimate that 500-600 PKU babies were identified through the NBS System in 2005 and presumably spared mental retardation through early dietary treatment. This is surely one of the major “goods” produced by the operation of the NBS System.

In contrast, many of the possible “harms” are harder to specify. Two possible “harms” will be discussed here. One, articulated by Dr. Fost, is that individuals will be identified as positive by screening programs and treated, for example, with special diets before we understand the relationship between the screening result and disease, and that some may be harmed thereby. The other is that, because of the low positive predictive value of some of the tests, the operation of the NBS System exposes a reasonably large number of families to the risk of psychological harm from an initial positive screening test result that is not confirmed on follow-up tests.

In the 1960s, before the relationship between blood phenylalanine level and mental retardation was well understood, and when the parents of newborns with PKU were largely responsible for their treatment with restrictive diets, harm was done to some newborns with slightly elevated blood phenylalanine levels who were placed on very restrictive diets.7 In 2006 diagnosis and treatment of most affected newborns is likely to be different than it was in the 1960s. Follow-up DNA tests to characterize the specific mutation(s) leading to the condition in question are available, although not always covered by health insurance. Metabolic specialists are responsible for designing and monitoring treatment plans for affected newborns, but there may not be enough of these specialists to meet current and future needs. To the extent that these essential NBS System elements are adequately trained, funded and available to all families who need them, concerns about possible harm through inappropriate treatment are reduced.

In the current operation of the NBS System, a relatively large number of families are initially given information that their newborns have abnormal screening test results, and return for additional follow-up tests that ultimately prove negative for the presence of disease. To estimate how many families, imagine that all states and the District of Columbia adopted the Unified Screening Panel recommendations of the ACMG Report. Table 2 lists the 29 conditions for which the ACMG report recommends screening. It also includes 2005 data reported to the National Newborn Screening and Genetics Resource Center (NNSGRC) by the individual state testing programs for these 29 conditions.13 These data show the number of newborn screening test results reported (as of June 1, 2006), the number of screening test positive results, the number of newborns finally diagnosed with disease, and (by subtraction) the number of newborns who had screening test positive results but were ultimately classified as without disease for that particular condition.14

Importantly, if all states tested for all 29 conditions, the data in Table 2 indicate that from 63,965 to perhaps 128,000 U.S. families would initially be given information that their newborn has an abnormal screening test result, and would return for additional follow-up tests that ultimately prove negative for the presence of disease.15 Receipt of such information is stressful for the parents. There are studies reporting that some parents remain anxious for years, even after they have received the results of follow-up tests showing that their newborn does not have a specific metabolic disease.16,17 There may also be adverse effects on the children in such situations. In summarizing the results of a Scandinavian study (reference 16b) of family responses to such testing results, the authors noted:

“Thirty-two families were investigated four years after a false alarm in the neonatal screening of their newborns. Sixteen of the families showed signs of persistent anxiety 6-12 months after the screening. Thirteen of them still showed anxiety after four years. Of the 16 without anxiety at 6-12 months, 6 show signs of anxiety now. This persistent anxiety may be related to the initial psychological trauma of the false positive screening result. Thus, 19 of the 32 families have not completely integrated their experience.


Twenty four children were psychologically evaluated. Eight families refused to have their children examined. Twelve of the children showed disturbed behavior. 10 of these have parents who show unsatisfactory integration. Medical measures have psychological side-effects, which can be interpreted as iatrogenic. However, the effects of an external stress depend on the individual’s susceptibility to it and abilities to cope with it and use external support available”.

Given the results of the Scandinavian study, the possibility exists that the U.S. NBS System may do psychological harm to normal newborns and their parents. In light of the numbers of families at risk as estimated above there is significant potential for harm when one considers the operation of the U.S. NBS System as a whole. It is striking that there are not more studies, and more recent studies, in the biomedical literature, that attempt to measure these undesirable side effects of large scale newborn screening programs.

The issue with regard to the current NBS System is about the balance of goods and harms in a system that tests for the 29 recommended conditions. If one put an ethical justification of today’s NBS system in a utilitarian framework, the argument might go as follows: the good that comes from the early identification and treatment of newborn disease due to inborn errors of metabolism outweighs any psychological harm experienced by parents and children whose initial screening test results are positive, but who then turn out to be negative for the disease upon subsequent follow-up testing. Is this justification satisfactory in 2006 in the context of an expanding number of screening tests? Do we need additional, more contemporary studies, to assess the frequency and magnitude of possible detrimental psychological effects of the NBS System?

More tests may be added in the future to the NBS System. Additional metabolites are detectable in heel-stick blood spots by tandem mass spectrometry. An ACMG list of tests from which the currently recommended 29 were chosen contains several more conditions for which tests are already available. The ability of tandem mass spectrometry tests to detect Tay-Sachs, Gaucher, Krabbe, Pompe, Nieman-Pick, Fabry, and Hurler syndromes has recently been described. Perhaps more significantly, DNA “chips”, substrates that can detect the presence of disease-linked DNA sequences in DNA extracted from heel-stick blood samples through DNA-DNA hybridization, are being developed. Potentially, this technology could detect all the known mutations leading to human genetic disease; however, it would miss rare cases due to new mutations that had not previously been reported.

In addition, DNA chip technology could be used to screen for mutations associated with an increased risk of future disease. For example, in the case of Type 1 diabetes, such screening could be used to identify children at increased risk for the disease, who could then be followed with additional tests to detect the earliest stages of disease onset, before clinical symptoms are apparent. Would the introduction of DNA chip technology increase the pressure to screen for increased risk of diseases that don’t show up until much later in life, such as testing for BRCA1 and BRCA2 genes (increased risk of breast and/or ovarian cancer) or the gene for Huntington’s disease?

III. What is the future of the “don’t test (screen) if you can’t treat” guideline?

From considerations like the 1968 Wilson and Jungner criteria (see Table 1, above) and early experience in screening for genetic diseases, the guideline “Don’t test (screen) if you can’t treat” emerged. Because tests exist for very many conditions and funding for screening programs has almost always been limited, this guideline has long served the practical purpose of focusing attention on screening for those conditions where a treatment was available. This gave newborn screening programs a plausible public health rationale, particularly in cases like PKU, for which it was essential to initiate dietary therapy in the first few weeks of life to achieve maximum therapeutic benefit.

With the deployment of such newborn screening technologies as tandem mass spectrometry, and looking to the possible future development of tests employing DNA chip technologies, some have begun to question whether “Don’t test (screen) if you can’t treat” remains a useful guideline, or has become a dogma that impedes “progress”. In their recent paper, Duane Alexander and Peter van Dyck put this question squarely before us.

"With the potential of greatly expanding testing and broader understanding of genetic diseases, many have begun to question one standard tenet of newborn screening, i.e., that it is appropriate to screen only for conditions for which an effective treatment already exists. That tenet served a useful purpose in the early years of newborn screening, but it is now being challenged as outmoded because it fails to consider other benefits of diagnosis in the newborn period and dooms us to continued ignorance and unavailability of treatment because affected individuals are not identified until they exhibit symptoms, too late for effective preventive interventions to be tested or applied”.18

Drs. Alexander and van Dyck put forward several arguments in favor of eliminating the “Don’t test (screen) if you can’t treat” guideline. They include (a) avoiding years of looking for the correct diagnosis of a sick infant, (b) providing knowledge to the parents on which to base reproductive decision-making, (c) benefits of early intervention programs (in the absence of effective treatment) for the child, and (d) the potential for the child to participate in testing innovative therapies. What ethical framework and empirical data should be used to evaluate these arguments and decide about the future applicability of the “Don’t test (screen) if you can’t treat” guideline to newborn screening programs? Would abandoning this guideline change the overall goals of newborn screening programs in a significant way?

IV. Is unequal testing by different state NBS programs inherently unfair or inequitable?

Because newborn screening programs involve medical personnel and programs, their implementation has been a matter for state health departments funded by state budget appropriations. Although there is some indirect Federal financial support to these programs through Maternal and Child Health Services Block Grants, all states except 5 collect fees as a primary source of funds for newborn screening programs.19 Many states have found it necessary to increase these fees in recent years to pay for the expanding cost of newborn screening programs.

The federal government has had multiple roles in developing the U.S. NBS System. They include: (a) promoting development of new screening technologies through NIH research grants; (b) promoting the development of a uniform national panel of NBS tests (via HRSA contract support for the ACMG report project); (c) encouraging high quality performance of newborn screening laboratory tests through a proficiency test system administered by the Centers for Disease Control; and (d) directly supporting seven regional Genetics and Newborn Screening Collaboratives through HRSA grants.

Different states have implemented newborn screening programs that differ in the number of tests included. So newspaper headline-generating cases occur in which a child has an undiagnosed and untreated genetic disease that would presumably been detected if that child had been born in an adjoining state.

“There are few things in medicine that are more difficult than trying to explain to the parents of a child with brain damage from one of these conditions that, if the child had been born in an adjoining state, he would have been screened and treated for the disorder and would be developing normally”.18

Although rare, these tragic situations do occur. They lead to the question: Is unequal testing by different state newborn screening programs inherently unfair or inequitable? What standard of fairness should be applied to newborn screening programs?

Within a generally cooperative federal/state division of roles and responsibilities with regard to the NBS System, there are some points of tension. Federal government agencies have generally promoted expansion of the number of newborn screening tests, without directly supplying the funds required. The individual states are in the unenviable position of being semi-coerced into following these recommendations for expanding the number of tests in their NBS programs, lest they be branded backward and/or uncaring about the health of their newborns. For example, in 2005 Texas tested for fewer than ten disorders. With the ACMG report in the background, the state budget for testing was increased by $7.4 million, and state legislators introduced legislation to expand the number of tests.

“’For the state of Texas to be at the bottom of that barrel is unacceptable,’ said Rep. Myra Crownover, R-Denton, who wrote House Bill 790, which mandates expansion of the screening program. ‘It shouldn’t be a burden to be born in the state of Texas’”.20

V. Is the confidentiality of screening test data adequately protected?

Screening test data for newborns who are confirmed as positive for inborn errors of metabolism would likely be retained in three places; a) the state health department or commercial laboratory where the screening test results are generated, b) the office of the primary care physician or pediatrician who transmits the positive test results to the parents, and c) the office of the metabolic specialist who works out the details of a treatment program for the affected infant. While many states have laws mandating the confidentiality of screening test data, others do not. As of 2002, there was no uniform system for legal protection of the confidentiality of newborn screening test results.21

In April 2003, federal privacy regulations regarding protected health information (“the Privacy Rule”) became effective as a result of the Health Insurance Portability and Accountability Act (HIPAA) [45 CFR Parts 160 and 164]. A complete account of this complex rule and its application to different state laws mandating newborn screening is beyond the scope of this paper. However, one review of its applicability to information generated by newborn screening programs concluded:

"Because newborn screening and related activities are permitted under 45 CFR Section 164.512 (a) and (b) and are required by State law, these activities and associated research can proceed under the Privacy Rule. The greatest challenge is to confront the often pervasive misinformation about the Privacy Rule that sometimes has been used to justify the nondisclosure of newborn screening and other public health information.”22

Among the concerns associated with non-confidential storage and use of genetic test result information is that it will be used in employment or health insurance decisions in ways that are discriminatory. Should state law or federal law provide the basic protection of the confidentiality of information from newborn screening programs? Should clarification of the status of these protections precede the expansion of newborn screening programs?

VI. Next steps for the Council?

There are several possible next steps for the Council to take with regard to these issues. The Council could take up the issues discussed here in a broader framework of consideration, for example, as a specific set of issues in the larger area of Children and Bioethics, or as part of broader concerns about the acquisition and uses of genetic information. Second, the Council could choose not to further discuss these particular issues at this time. Finally, the Council could determine that newborn screening contains issues that are important in their own right, and take on directly some of the issues and questions in this working paper. For example, it could join with other interested parties in developing a statement of goals, guidelines and criteria appropriate to large-scale national newborn screening programs in the 21st century.

_______________________

FOOTNOTES

1. The focus here is on detecting inborn errors of metabolism. Other test methods are used in newborn screening tests for hearing loss, hormone imbalance, blood protein abnormalities such as sickle cell anemia, and cystic fibrosis.

2. The screening test detects a phenotype , for example, the condition called hyperphenylalanemia. The disease resulting from very high levels of phenylalanine in the blood is called phenylketonuria (PKU). The specific gene mutations ( genotype ) leading to hyperphenylalanemia can now be characterized by follow-up DNA tests. Some genotypes are associated with only slightly elevated levels of phenylalanine in the blood. Although such individuals are identified as positive by the screening test, they are asymptomatic and apparently not at significant risk of developing mental retardation.

3. See, among others, Wilcken, B., et al., Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry , New Engl J Med, 348: 2304-2312 (2003)

4. Botkin, J.R., et al., Newborn Screening Technology: Proceed with Caution , Pediatrics, 117: 1793-1799 (2006) at p. 1794

5. American College of Medical Genetics Newborn Screening Expert Group. Newborn Screening: Toward a Uniform Screening Panel and System - Executive Summary, Pediatrics, 117: S296-S307 (2006) For a critique of both the process and the substance of this report, see Reference 4.

6. Fost, N., presentation at the December 8, 2005 meeting of the President's Council on Bioethics; transcript available at www.bioethics.gov

7. We are indebted to Professor Diane Paul ( University of Massachusetts , Boston ) for these references: American Academy of Pediatrics, Committee on the Handicapped Child. Statement on Treatment of Phenylketonuria . Pediatrics, 35: 501-503 (1965) (on page 503) "Over-rigidity of dietary management has led to early death, presumably from insufficient protein intake or hypoglycemia"; Hanley, W.B. et al., Malnutrition with early treatment of phenylketonuria , Pediatric Research, 4: 318-327 (1970)

8. Watson, M., presentation at the February 3, 2006 meeting of the President's Council on Bioethics; transcript available at www.bioethics.gov

9. Botkin, J. presentation at the February 3, 2006 meeting of the President's Council on Bioethics; transcript available at www.bioethics.gov

10. Wilson , J. and Jungner, G., The Principles and Practice of Screening for Disease Geneva , World Health Organization (1968)

11. Botkin, J.R. Research for Newborn Screening: developing a national framework Pediatrics, 116: 862-871 (2005)

12. The New England Newborn Screening Program (Connecticut, Maine, Massachusetts, Rhode Island and Vermont) tests for 10 disorders and offers parents that give their consent an opportunity to participate, at no additional cost, in two optional Pilot Studies, one to test for Cystic Fibrosis and one to test for 19 additional disorders. http://www.umassmed.edu/nbs/ , accessed May 30, 2006.

13. National Newborn Screening and Genetics Resource Center, http://www2.uthscsa.edu/nnsis/ - see 2005 data for each specific condition, accessed June 1, 2006. Data accessed on subsequent dates may be different as new data are continually being added to this site.

14. Note that the number of test results reported for 2005 (ranging from 315,809 for methylmalonic acidemia (Cbl A,B) to 2,908,396 for classical galactosemia) is less than the approximately 4 million newborns tested each year because 1) not all states currently test for all of the 29 conditions, and 2) not all states have yet reported their data to NNSGRC. In addition, because many of the screening tests have a low positive predictive value, the number of newborns finally diagnosed with disease is almost always much fewer than the number of newborns with positive screening test results.

15. The number 63,965 comes directly from adding up 2005 NNSGRC data (as of 6/1/06) for all 29 conditions (except hearing loss) as shown in Table 2. The number 128,000 comes from noting that on average the 2005 NNSGRC data covers less than one half of the total number of 4 million newborns screened in 2005. So, the number 63,965 is multiplied by 2 to give an upper estimate of ~128,000.

16. (a) Bodegard, F., et al., Psychological reactions in 102 families with a newborn who has a falsely positive screening test for congenital hypothyroidism, Acta Paediatr Scand Suppl., 304: 1-21 (1983);

(b) Fyro, K. and G. Bodegard, Four year follow-up of psychological reactions to false positive screening tests for congenital hypothyroidism, Acta Paedriatr Scand, 76: 107-114 (1987). As Dr. Botkin put it in his presentation to the Council (reference 9): "But probably more importantly is that the research consistently shows that some parents with false positive kids continue to believe there's something wrong with their child.  Somewhere between five to ten, some studies up to 20 percent.  Interview these folks later.  They're still anxious about it, or in fact, they may say, you know, "I'm not sure.  You know, they told me he might have CF and then they said it was okay, but I'm not convinced."

17. Sorenson, J.R., et al., Parental response to repeat testing of infants with "false positive" results in a newborn screening program , Pediatrics, 73: 183-7 (1984)

18. Alexander, D. and van Dyck, P.C., A Vision of the Future of Newborn Screening , Pediatrics, 117: S350-S354 (2006) Dr. Alexander is the Director of the National Institute of Child Health and Development, U.S. Department of Health and Human Services, while Dr. van Dyck is Associate Administrator for Maternal and Child Health, Health Resources and Services Administration, U.S. Department of Health and Human Services.

19. Johnson, K., et al., Financing State Newborn Screening Programs: Sources and Uses of Funds , Pediatrics, 117: S270-279 (2006)

20. See Corrie MacLaggan's article "Debate flares over expanding baby tests; Parents want more screenings; Doctors say the state's not ready", Austin American Statesman, October 25, 2005, p. A1 Even though Texas was expanding its testing program, the $7.4 million additional appropriation was unlikely to enable Texas to test for all 29 of the ACMG recommended conditions.

21. See National Conference of State Legislatures, Newborn Genetic Screening Privacy Laws , a July 2002 summary of the different state laws on this topic, at: http://www.ncsl.org/programs/health/screeningprivacy.htm , accessed May 30, 2006. S. 306, "Genetic Information Nondiscrimination Act of 2005" passed the Senate in February, 2005, but companion legislation was not acted upon by the House.

22. American College of Medical Genetics Newborn Screening Expert Group. Newborn Screening: Toward a Uniform Screening Panel and System. Accessed at http://www.mchb.hrsa.gov/screening May 30, 2006. See Appendix 5: HIPPA Guidance for Public Health Programs, pp. 322-329.

 


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