BACKGROUND

Newborn blood spot screening (NBS) aims to identify infants who are at high risk of particular conditions and who would be likely to benefit from early diagnosis and treatment. NBS for phenylketonuria (PKU) and congenital hypothyroidism (CH) has been in place in most industrialized nations for several decades and has dramatically improved outcomes for affected infants (1). Despite this success, important developments now challenge policies. Advances in genomics, for example, are resulting in new genetic tests, including tests for later-onset conditions and for disease susceptibility; technological advances such as tandem mass spectrometry have facilitated mass population screening for multiple diseases; and citizens and consumer groups are increasingly informed about screening, resulting in a greater need for accountable policy making (2, 3).

Compared to traditional screening for PKU and CH, when weighing the potential clinical benefits and harms of NBS applied to new conditions being considered in program expansion the balance is less decisive (4, 5), leading to difficult policy questions. NBS offers potential secondary benefits, such as avoiding a subsequent "diagnostic odyssey" in the absence of screening, and it may facilitate parents' reproductive choices (6, 7). No consensus exists on how such benefits should factor into policy decisions or on how they should be weighed against potential psychosocial harms from false-positive results or from identifying a condition with an uncertain outcome (8, 9, 10). For some genetic conditions, such as cystic fibrosis (CF) and sickle cell disease, NBS has implications when identifying unaffected infants who are carriers of genetic mutations 4, 11, 12, 13). Further questions relate to screening implementation: What mutations should be included in a CF NBS protocol? (11, 14); Should screening for sickle cell disease be universal or limited to high-risk groups based on ethnicity (12, 15)?

NBS policies remain disparate internationally (16). Decisions depend on how decision-makers in different jurisdictions address complex issues. Understanding the processes requires consideration of the perspectives of various stakeholder groups, including families of affected and non-affected infants, health care professionals, and the broader public. Stakeholder involvement in health policy is increasingly recognized as important (17, 18, 19, 20, 21), and may be defined to include consultations, direct and indirect policy input, and dissemination of policy decisions (22). It is unclear today what role stakeholders play in NBS policy development or how governmental and non-governmental organizations prefer to achieve inclusiveness in the process.

PURPOSE

We explore stakeholder involvement in NBS policy development, illustrating the issues by reviewing national-level policy documents relevant to NBS in the United Kingdom (UK), the United States (US), Australia, and Canada. We describe:

1. the role of governmental and non-governmental stakeholder organizations in NBS policy;
2. how these organizations have incorporated other stakeholder views into their own policy writing; and
3. the recommendations made by these organizations for stakeholder participation.

METHODS

To identify relevant policy literature, we used internet searches and personal contact with organizations. For each country, we aimed to identify documents produced by at least one national governmental organization, one or more professional physician associations (representing geneticists and/or primary care physicians), and one or more consumer associations (representing families affected by genetic conditions generally and families affected by CF as a disease-specific example) (Table 1). We did not try to compile a comprehensive list of organizations, but to explore a sample of organizations that reflected a range of NBS stakeholders. Our focus was limited to documents produced by formal stakeholder groups, rather than, for example, commentaries in the popular media or advocacy efforts by individual citizens.

Table 1 - Organizations whose policy-relevant literature was included in our review.

Full table

We first explored how each organization appeared to be involved in developing NBS policy. We then reviewed each of the policy documents identified. We looked for mention of stakeholder participation in producing the document, characterizing such involvement as consultation (e.g., seeking comments on draft policy documents), direct input (e.g., involving multiple stakeholders in policy working groups), or indirect input (e.g., using surveys or focus groups to gain insight into stakeholder views) (22). We also described any recommendations made in the documents for stakeholder participation in NBS policy development.

RESULTS

The United Kingdom

Governance and current status

In the UK, NBS advice and standards are provided by the National Screening Committee (NSC) (23, 24, 25), the Newborn Screening Programme Centre (26), and the NHS Sickle Cell and Thalassaemia Screening Programme (27). NBS is universal for PKU and CH. CF screening is being implemented (26). England also conducts NBS for sickle cell disease (27) and will add medium chain acyl CoA dehydrogenase deficiency to its program (28), while in Wales, male newborns are screened for Duchenne Muscular Dystrophy (26).

Stakeholder involvement: governmental organization/s

The NSC involves multi-disciplinary expert groups in its policy development (direct input) (25). Its criteria demand that screening be acceptable to health professionals and to the population (Table 2) (24). The UK Newborn Screening Programme Centre developed standards with multi-stakeholder expert groups as well as consultation and pilot testing (direct input and consultation). One criterion supports the use of a multi-disciplinary coordinating group that includes citizens (Table 2) (26).

Table 2 - National governmental organizations: strategies for stakeholder participation used and recommended in newborn screening policy literature.

Full table

Stakeholder involvement: professional physician associations

Professional physician associations participate in NBS policy development principally through the NSC and/or UK Newborn Screening Programme Centre. The Royal College of Paediatrics and Child Health, for example, was represented in the UK Newborn Screening Programme Centre's policy process (26). The UK Clinical Genetics Society lacks a formal policy role in NBS, but in 1994 its "The Genetic Testing of Children" statement relied on a stakeholder survey to inform the discussion (indirect input) (Table 3) (29).

Table 3 - Professional physician associations: strategies for stakeholder participation used and recommended in newborn screening policy literature.

Full table

Stakeholder involvement: consumer or patient associations

The Genetic Interest Group does not appear to be involved in UK NBS policy development, but did respond to the Clinical Genetics Society's statement on genetic testing in children, promoting a consideration of family perspectives (Table 4) (30). From the UK CF Trust, information provided to us by Rose Donnelly indicated that the organization advocated for newborn CF screening in the UK earlier this decade, emphasizing the need to account for family experiences and reminding the government of their commitment to involve consumers in health policy development (Table 4).

Table 4 - Consumer or patient associations: strategies for stakeholder participation used and recommended in newborn screening policy literature.

Full table

The United States

Governance and current status

US NBS programs are governed at the state level (6, 31, 32). States include as many as 50 or more conditions, with all states screening for PKU, CH, sickle cell disease, and galactosemia (33). In 2002, the national government commissioned the American College of Medical Genetics (ACMG) to develop NBS guidelines. The college recommended screening for 29 core conditions plus several incidentally identified disorders (6). The US government has also recently established an Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDGDNC) to develop national NBS policy (34).

Stakeholder involvement: governmental organization/s

Nationally, the ACHDGDNC, which includes representatives from health professional and consumer associations (direct input), and invites and posts public comments (consultation), has endorsed the ACMG recommendations (34). The US Centers for Disease Control and Prevention (CDC) offers a laboratory quality assurance program and has published reports on NBS for CF, following workshops that the CF Foundation helped plan (direct input) (11, 35). CDC has addressed screening using tandem mass spectrometry, and in doing so recommended multi-stakeholder involvement (Table 2) (36). At the state level, most NBS programs have advisory committees. Many are multidisciplinary and include public/consumer representation (21, 37); some report actively seeking consumer feedback (38).

Stakeholder involvement: professional physician associations

The ACMG developed its NBS recommendations in a process that included broad stakeholder involvement through expert groups and a survey (direct and indirect input) and included suggested standards for stakeholder inclusion in NBS programs (Table 3) (6). The resulting report led to policy debate (39, 40, 41), enhanced, in part, by an open process for submitting comments (consultation). An earlier ACMG statement on genetic testing in children did not address inclusiveness in developing NBS policy (42). The American Academy of Pediatrics (AAP) led a Task Force on Newborn Screening that incorporated stakeholder involvement (direct input and consultation) and recommended broad participation in policy development (Table 3) (31). An AAP position statement on genetic testing in children did not specifically address stakeholder participation in policy development (43). Finally, AAP recently endorsed the ACMG's NBS recommendations (44).

Stakeholder involvement: consumer or patient associations

The Genetic Alliance co-sponsored the AAP-led Task Force on Newborn Screening (direct input). In providing views to inform the ACMG report, submitting testimony to the Secretary's ACHDGDNC (45) and responding to the ACMG recommendations (46), the Genetic Alliance highlighted the family perspective (Table 4). The March of Dimes plays a long-standing role in advocating for NBS (47), responding recently to the AAP Task Force report (48) and endorsing the ACMG's recommendations (49, 50). The CF Foundation, as noted above, collaborated in organizing the 2003 CDC workshop on CF NBS (direct input), sponsored a related special journal supplement with a CF Foundation paper advocating for NBS (51), and has continued to advocate for inclusion of CF screening in state programs (52).

Australia

Governance and current status

NBS policy is set by states in Australia, coordinated through five programs (53), all of which screen for PKU, CH, CF (53), and metabolic disorders (54). NBS policy recommendations have been developed by the Human Genetics Society of Australasia and the Royal Australasian College of Physicians (HGSA/RACP) (55, 56). While largely uniform in the conditions screened, programs differ regarding parental consent and on storage and secondary use of dried blood spots (57). A 2003 report (58) led to the formation of an advisory group to begin to harmonize these policies (59). The Office of Population Health Genomics in Western Australia recently proposed a framework for decision-making regarding NBS program expansion (60).

Stakeholder involvement: governmental organization/s

An Australian government-commissioned inquiry on genetic testing, which also addressed NBS, included public fora, stakeholder meetings, and written submissions (direct input and consultation) (58). The final document recommended, with respect to NBS policy, an "ethics of discussion" approach to balancing different stakeholder perspectives regarding secondary use of blood spot cards (Table 2) (58). Peter O'Leary from the Department of Health, Western Australia, informed us that the Australian government is currently consulting stakeholders in its on-going national policy process.

Stakeholder involvement: professional physician associations

The HGSA/RACP NBS guidelines recommend the involvement of multi-disciplinary experts in developing policy, and, regarding the storage and secondary use of blood spots, they emphasize the need for public information (Table 3) (55, 56).

Stakeholder involvement: consumer or patient associations

The Association of Genetic Support of Australasia, the Genetic Support Council of Western Australia, and CF Australia are key consumer groups. We were unable to find NBS policy documents from these groups, although the Association submitted evidence to a government-commissioned inquiry, highlighting the need to promote community awareness of the storage of residual blood spots (Table 4) (58).

Canada

Governance and current status

NBS in Canada is governed at the provincial level (32, 61); provinces screen for from fewer than 10 to near 30 conditions, with all provinces including PKU and CH (62). Program expansion is underway for further metabolic and endocrine disorders (e.g., 62, 63, 64)), sickle cell disease (64), and CF (65, 66) in some provinces. Provincial differences have prompted calls for national policy development (61, 67, 68).

Stakeholder involvement: governmental organization/s

In 2000, a Health Canada report on maternal and neonatal care recommended screening for PKU and CH at a minimum, but did not address policy inclusiveness (69). The Canadian Task Force on Preventive Health Care, a group of clinician-researchers funded through federal and provincial governments, published recommendations regarding NBS for PKU, CH, CF, and hemoglobinopathies in 1993–1994 (70), but these were not government policy positions. Most provinces have NBS advisory committees (61), which primarily involve health professionals and do not tend to include citizen representation as noted in unpublished survey results by D. Avard in 2005.

Stakeholder involvement: professional physician associations

The Canadian College of Medical Geneticists (CCMG) has not published policy statements specific to NBS. In a 2000 statement (71), CCMG endorsed the report from the ACMG regarding genetic testing in children (42), without addressing stakeholder involvement. The CCMG also published a brief statement in 1999 on CF testing (not NBS specifically). Again, policy inclusiveness was not mentioned (72). Finally, the Canadian Paediatric Society published a statement on genetic testing in children, mentioning consultation with health professionals and other experts, but the statement specifically excluded a discussion of NBS (73).

Stakeholder involvement: consumer or patient associations

The Canadian CF Foundation now endorses CF NBS in Canada. While the official documents remain unpublished, Kelly Gorman told us that the organization has disseminated its views to provincial governments; it has also publicly supported or advocated for the implementation of NBS for CF in Alberta, Ontario, and British Columbia (74, 75). Background documents on NBS were prepared for the Canadian CF Foundation by a multi-disciplinary working group of clinicians and researchers (direct input); its position statement was recommended by a committee with patient and family representatives and it identifies the Foundation as a key NBS stakeholder (Table 4). The Canadian Organization for Rare Disorders (CORD) has also taken a position, endorsing "comprehensive and inclusive" NBS "at the highest prevailing international standards" (76).

DISCUSSION

Although all four countries studied have established NBS programs, we found considerable variation both among and within nations in the choice of screened conditions. Newborn CF screening, for example, has been in place in all Australian states for more than 5 years, and is now being implemented universally in the UK, yet CF has only recently begun to be added to NBS panels in most US states and in two Canadian provinces. In contrast, NBS for sickle cell disease occurs across all US states and in England but has been announced in only one Canadian province and to our knowledge is not included in Australian programs. Inclusion of metabolic disorders that can be screened for using tandem mass spectrometry is also quite variable. Although screened conditions differ across regions in terms of prevalence, this is unlikely to explain fully the differences in policies; rather, we argue that such variation is likely at least in part the result of differences in handling the complex policy issues involved. Indeed, when empirical evidence is lacking or suggests a fine balance of benefits and harms, it may be appropriate for different jurisdictions to differ in their policy decisions, depending on how benefits and harms are weighed and how they are considered in the context of available resources and other factors, including values (4). In such cases, the process of decision-making may be more important than the outcome in promoting fairness and accountability. One potential means of facilitating fairness is the use of an inclusive approach that considers the perspectives of multiple stakeholders.

Stakeholder participation and inclusiveness may involve both organizations (governmental, professional, and citizen or patient groups) and individuals. We focused on organizations and explored their involvement in the policy process as stakeholders themselves; plus their own use of stakeholder participation (i.e., consideration of other stakeholder perspectives) in developing policy documents. The nature of involvement in NBS policy differed across stakeholder groups. Professional associations, for example, sometimes published independent positions on the issues (such as professional geneticist societies' position statements on childhood genetic testing), while at the same time being directly integrated in government policy development (such as the US government's commissioning of the ACMG's recommendations). Consumer groups tended to be involved mainly through published position statements or other advocacy efforts, or through representation in government-led initiatives. An exception was the US CF Foundation, where we documented direct collaboration with governmental organizations in developing policy. Indeed, in all four countries, groups focused on CF support tend to include clinical care providers and researchers as members or collaborators and engage in a range of activities beyond traditional advocacy.

The roles of governmental, health professional, and patient/consumer groups in NBS policy also differed across countries. In the UK, there is now strong centralized coordination of NBS, with professional and consumer groups tending to be involved mainly through governmental initiatives. In the US, several national professional and consumer groups have published independent position statements on NBS issues, with some collaborative policy development across groups (for example, the government commissioned ACMG report or joint sponsorship of workshops by the CDC and CF Foundation). Establishment of the ACHDGDNC (34) suggests an expanded role for the national government in future US NBS policy. National NBS guidelines used by the state-level programs in Australia have been produced by health professional associations, although the government is currently active in developing national harmonized policies. In contrast, both the federal government and national professional physician associations have been largely silent with respect to NBS policy in Canada; consumer or patient associations were the only national-level Canadian organizations where we found recent official positions.

The organizations we studied used many methods to consider the views of other stakeholders. Stakeholder participation in health policy development has been described using different typologies (77), including Kelson's categories of consultation, indirect input, and direct input (22). Stakeholder perspectives may, for example, be considered via surveys or focus groups designed to clarify values (indirect input); public fora or other consultations, including invitations to provide written or oral submissions (consultation); the involvement of individuals on advisory committees (direct input); and deliberative methods (e.g., citizens' juries or panels) (direct input) (17, 20, 22, 78). We found that government agencies frequently used multi-stakeholder working groups and consultation with families and health professionals (Table 2); professional physician associations used surveys or multi-stakeholder expert groups (Table 3); and consumer or patient organizations sometimes collaborated with professional or governmental groups (Table 4). Because consumer or patient organizations exist to represent the views of patients and families, these groups may be less likely to engage other stakeholder communities explicitly.

Each method of stakeholder participation has strengths and weaknesses (78), although to date, evidence of their relative effectiveness in the health policy arena is limited, in part because of ongoing debate regarding how success should be defined (17, 79). Deliberative approaches in particular, which allow for interaction and debate among participants, may lead to different outcomes than straightforward consultations (80, 81). The authors of a recent Australian study that used deliberative methods to explore NBS policy issues suggested that such an approach is likely to lead to unique insights and perhaps more informed views from community members, but acknowledged that these views may not be representative of the population (57). To address these trade-offs, a multi-faceted strategy may be ideal and requires further study.

A limitation of our analysis was its necessary reliance on documented evidence of the policy process. The absence of national leadership for NBS in Canada, for example, led us to consider turning to provincial-level policies; however, there is a lack of published information on such policies. An exception is the province of Ontario, where the NBS program was investigated by the provincial Ombudsman (82). The resulting report chronicled a policy process that faced extensive bureaucratic problems over many years, amid increasing advocacy efforts from various stakeholder organizations – Save Babies Through Screening Foundation of Canada, the Sickle Cell Association of Ontario – and individuals (82). In 2005, the reagent needed for PKU screening was soon to become unavailable, requiring technological changes, and the Coroner's office announced its intention to investigate infant deaths from a screenable condition; these developments and on-going advocacy appeared to be collectively responsible for the initiation of a new NBS policy process (32, 63, 64, 82).

This example illustrates the multiple influences on NBS policy and highlights the challenges in evaluating stakeholder involvement when policy development is not wholly purposeful and transparent (without the Ombudsman's report, many policy-relevant activities in Ontario would not have been publicly documented). Indeed, the current focus on stakeholder engagement in health policy generally is part of a broader trend emphasizing procedural justice and notions of fairness and transparency as strategies for resolving value-laden and contested health policy issues (19, 83). As such, formalizing and documenting methods of stakeholder engagement in NBS policy would not only help to inform the evaluation of stakeholder participation methods but would also itself contribute to public accountability.

CONCLUSIONS

Policy decision-making in NBS has grown increasingly complex, reflected by a lack of national and international consistency in current programs. National governments face challenges in developing consistent policies in areas where the evidence is not clearly swayed toward net benefits or harms, such that values play a large role in policy decisions. This paper has characterized the current policy context for NBS in four countries, focusing on stakeholder involvement. Our overview suggests that inclusiveness is recognized as an important factor for developing sound NBS policy but the most effective means for engaging a broad range of stakeholders require further evaluation.

References

1. Pollitt RJ, Green A, McCabe CJ, Booth A, Cooper NJ, Leonard JV, et al. Neonatal screening for inborn errors of metabolism: cost, yield and outcome. Health Technol Assess. 1997;1(7).
2. Kerruish NJ, Robertson SP. Newborn screening: new developments, new dilemmas. J Med Ethics. 2005;31:393–398. | Article | PubMed | ChemPort |
3. Therrell Jr BL. U.S. newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab. 2001;74:64–74. | Article | PubMed | ChemPort |
4. Wilfond BS, Parad RB, Fost N. Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions. J Pediatr. 2005;147:S109–S113. | Article | PubMed |
5. Wilcken B. Mini-Symposium: newborn screening for inborn errors of metabolism-clinical effectiveness. J Inherit Metab Dis. 2006;29:366–369. | Article | PubMed |
6. Watson MS, Lloyd-Puryear MA, Mann MY, Rinaldo P, Howell RReditors, ACMG Newborn Screening Expert Group.Newborn screening: toward a uniform screening panel and system. Genet Med. 2006;8(1):1S–252S. | PubMed |
7. Green NS, Dolan SM, Murray TH. Newborn screening: complexities in universal genetic testing. Am J Public Health. 2006;96:1955–1959. | Article | PubMed |
8. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006;117:1915–1921. | Article | PubMed |
9. Grosse SD, Boyle CA, Kenneson A, Khoury MJ, Wilfond BS. From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics. 2006;117:923–929. | Article | PubMed |
10. Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003;290:2564–2572. | Article | PubMed | ISI | ChemPort |
11. Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004;53:1–36. | PubMed |
12. Avard D, Kharaboyan L, Knoppers BM. Newborn screening for sickle cell disease: socio-ethical implications. In: McLean, SAM editor. First Do No Harm: Law, Ethics and Healthcare. Aldershot, UK: Ashgate Publishing Ltd; 2006, Chapter 31.
13. Oliver S, Dezateux C, Kavanagh J, Lempert T, Stewart R. Disclosing to parents newborn carrier status identified by routine blood spot screening. Cochrane Database Syst Rev. 2004; CD003859.
14. Comeau AM, Accurso FJ, White TB, Campbell III PW, Hoffman G, Parad RB, et al. Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics. 2007;119:e495–e518. | Article | PubMed |
15. Grosse SD, Olney RS, Baily MA. The cost effectiveness of universal versus selective newborn screening for sickle cell disease in the US and the UK: a critique. Appl Health Econ Health Policy. 2005;4:239–247. | Article | PubMed |
16. Pollitt RJ. International perspectives on newborn screening. J Inherit Metab Dis. 2006;29:390–396. | Article | PubMed | ChemPort |
17. Abelson J, Forest PG, Eyles J, Smith P, Martin E, Gauvin FP. Deliberations about deliberative methods: issues in the design and evaluation of public participation processes. Soc Sci Med. 2003;57:239–251. | Article | PubMed | ISI |
18. Ard CF, Natowicz MR. A seat at the table: membership in federal advisory committees evaluating public policy in genetics. Am J Public Health. 2001;91:787–790. | PubMed | ISI | ChemPort |
19. Daniels N. Accountability for reasonableness. BMJ. 2000;321:1300–1301. | Article | PubMed | ChemPort |
20. Gollust SE, Apse K, Fuller BP, Miller PS, Biesecker BB. Community involvement in developing policies for genetic testing: assessing the interests and experiences of individuals affected by genetic conditions. Am J Public Health. 2005;95:35–41. | Article | PubMed |
21. Hiller EH, Landenburger G, Natowicz MR. Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States. Am J Public Health. 1997;87:1280–1288. | PubMed | ChemPort |
22. Kelson M. The NICE patient involvement unit. Evidence-Based Healthcare & Public Health. 2005;9:304–307. | Article |
23. Elliman DA, Dezateux C, Bedford HE. Newborn and childhood screening programmes: criteria, evidence, and current policy. Arch Dis Child. 2002;87:6–9. | Article | PubMed | ChemPort |
24. UK National Screening Committee. Criteria for appraising the viability, effectiveness and appropriateness of a screening programme. 2003. Available at www.nsc.nhs.uk, accessed 1 October 2007.
25. UK National Screening Committee. Website. Available at www.nsc.nhs.uk, accessed 1 October 2007.
26. UK Newborn Screening Programme Centre. Website (see various documents regarding program standards and their development). Available at www.newbornscreening-bloodspot.org.uk, accessed 1 October 2007.
27. NHS Sickle Cell and Thalassaemia Screening Programme. Newborn screening. Available at www.sickleandthal.org.uk/newborn.htm, accessed 1 October 2007.
28. Department of Health. New screening test for all babies to be introduced; 2007. Available at www.gnn.gov.uk/environment/FullDetail.asp?ReleaseID=262490&NewsAreaID=2&NavigatedFromDepartment=False, accessed 1 October 2007.
29. Clarke A. The genetic testing of children. Working party of the Clinical Genetics Society (UK). J Med Genet. 1994;31:785–797. | PubMed | ISI | ChemPort |
30. Dalby S. GIG response to the UK Clinical Genetics Society report "The genetic testing of children". J Med Genet. 1995;32:490–491. | PubMed | ISI | ChemPort |
31. American Academy of Pediatrics. Serving the family from birth to the medical home. Newborn screening: a blueprint for the future – a call for a national agenda on state newborn screening programs. Pediatrics. 2000;106:389–427.
32. Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis. 2007;30:447–465. | Article | PubMed |
33. National Newborn Screening and Genetics Resource Center. National newborn screening status report. U.S. National screening status report. Updated 09/26/07. Available at: http://genes-r-us.uthscsa.edu/, accessed 1 October 2007.
34. Howell RR. Advisory committee on heritable disorders and genetic diseases in newborns and children. Ment Retard Dev Disabil Res Rev. 2006;12:313–315. | Article | PubMed |
35. Centers for Disease Control and Prevention. Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. Proceedings of a 1997 workshop. MMWR Recomm Rep. 1997;46:1–24.
36. Centers for Disease Control and Prevention. Using tandem mass spectrometry for metabolic disease screening among newborns. A report of a work group. MMWR Recomm Rep. 2001;50:1–34. | PubMed | ChemPort |
37. Therrell BL, Johnson A, Williams D. Status of newborn screening programs in the United States. Pediatrics. 2006;117:S212–S252. | Article | PubMed |
38. Natowicz MR, Hiller EH. Addressing consumer grievances in medicine: policies and practices of newborn screening programs in the United States. Genet Test. 2002;6:31–38. | Article | PubMed |
39. Black H. Newborn screening report sparks debate in USA. Lancet. 2005;365:1453–1454. | Article | PubMed |
40. Botkin JR, Clayton EW, Fost NC, Burke W, Murray TH, Baily MA, et al. Newborn screening technology: proceed with caution. Pediatrics. 2006;117:1793–1799. | Article | PubMed |
41. Howell RR. We need expanded newborn screening. Pediatrics. 2006;117:1800–1805. | Article | PubMed |
42. American Society of Human Genetics and American College of Medical Genetics. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Am J Hum Genet. 1995;57:1233–1241. | PubMed | ISI |
43. Nelson RM, Botkjin JR, Kodish ED, Levetown M, Truman JT, Wilfond BS, et al. Ethical issues with genetic testing in pediatrics. Pediatrics. 2001;107:1451–1455. (Note: statement reaffirmed in October 2004; see May 2005 issue). | Article | PubMed | ISI | ChemPort |
44. Lloyd-Puryear MA, Tonniges T, van Dyck PC, Mann MY, Brin A, Johnson K, et al. American Academy of Pediatrics Newborn Screening Task Force recommendations: how far have we come? Pediatrics. 2006;117:S194–S211. | PubMed |
45. Terry SF. Public testimony to Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Genetic Alliance; 2004. Available at http://www.geneticalliance.org/ws_display.asp?filter=%7B03333436%2DD71E%2D4554%2D93A0%2DDE88FA87B037%7D, accessed 1 October 2007.
46. Terry SF. Comments submitted by Genetic Alliance to the Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. "We must ensure that all newborns have access to appropriate and effective screening programs". Genetic Alliance; 2005. Available at http://www.geneticalliance.org/ws_display.asp?filter=%7B35CD2C75%2D98C7%2D41F1%2D988F%2D92C048FCB472%7D, accessed 1 October 2007.
47. Howse JL, Weiss M, Green NS. Critical role of the March of Dimes in the expansion of newborn screening. Ment Retard Dev Disabil Res Rev. 2006;12:280–287. | Article | PubMed |
48. Howse JL, Katz M. The importance of newborn screening. Pediatrics. 2000;106:595. | Article | PubMed | ChemPort |
49. March of Dimes. March of Dimes statement on newborn screening report. 2004. Available at www.marchofdimes.com/aboutus/10651_13507.asp, accessed 1 October 2007.
50. March of Dimes. Professionals and researchers. Quick references and fact sheets. Recommended newborn screening tests: 29 disorders. Available at www.marchofdimes.com/professionals/14332_15455.asp, accessed 1 October 2007.
51. Campbell III PW, White TB. Newborn screening for cystic fibrosis: an opportunity to improve care and outcomes. J Pediatr. 2005;147:S2–S5. | Article | PubMed |
52. Cystic Fibrosis Foundation. Website (various statements). Available at www.cff.org, accessed 1 October 2007.
53. National Public Health Partnership. An overview of public health surveillance of genetic disorders and mapping of current genetic screening services in Australia. 2002; Available at http://www.nphp.gov.au/publications/genetics/genetic_mapping.pdf, accessed 1 October 2007.
54. Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, Black C, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet. 2007;369:37–42. | Article | PubMed | ChemPort |
55. Human Genetics Society of Australasia and Royal Australasian College of Physicians Newborn Screening Joint Subcommittee. HGSA policy statement 2004. Newborn blood-spot screening. 2004. Available at http://www.hgsa.com.au/, accessed 1 October 2007.
56. Human Genetics Society of Australasia and Royal Australasian College of Physicians Newborn Screening Joint Subcommittee. Policy statement on the retention, storage and use of sample cards from newborn screening programs. Available at http://www.hgsa.com.au/, accessed 1 October 2007.
57. Muchamore I, Morphett L, Barlow-Stewart K. Exploring existing and deliberated community perspectives of newborn screening: informing the development of state and national policy standards in newborn screening and the use of dried blood spots. Aust New Zealand Health Policy. 2006;3:14. | Article | PubMed |
58. Australian Law Reform Commission. ALRC 96 Essentially yours: The protection of human genetic information in Australia. 2003. Available at www.austlii.edu.au/au/other/alrc/publications/reports/96/, accessed 1 October 2007.
59. Department of Health and Aging. Australian Law Reform Commission and Australian Health Ethics Committee report. Essentially yours: The protection of human genetic information in Australia. Government response to recommendations. 2003. Available at www.health.gov.au/internet/wcms/publishing.nsf/Content/humangenetics.htm, accessed 1 October 2007.
60. Brameld K. Paper: Framework for adding new tests for conditions within the newborn screening protocol. Office of Population Health Genomics, Government of Western Australia, Department of Health; 2006. Available at http://www.genomics.health.wa.gov.au/publications/docs/Newborn_Screening_Framework.pdf, accessed 1 October 2007.
61. Hanley WB. Newborn screening in Canada – Are we out of step? Paediatrics and Child Health. 2005;10:203–207.
62. National Newborn Screening and Genetics Resource Center. Newborn screening in Canada status report. Updated 11 May 2007. Available at http://genes-r-us.uthscsa.edu/, accessed 1 October 2007.
63. Ontario Ministry of Health and Long-Term Care. Backgrounder: McGuinty government expands newborn screening program. 2005; Available at http://www.health.gov.on.ca/english/media/news_releases/archives/nr_05/bg_090705.pdf, accessed 1 October 2007.
64. Ontario Ministry of Health and Long-Term Care. Backgrounder (2): McGuinty government expands newborn screening program. 2005. Available at http://www.health.gov.on.ca/english/media/news_releases/archives/nr_05/bg_110205.pdf, accessed 1 October 2007.
65. Ontario Ministry of Health and Long-Term Care. Backgrounder. Cystic fibrosis and newborn screening. 2006. Available at www.health.gov.on.ca/english/media/news_releases/archives/nr_06/nov/bg_112306.pdf, accessed 1 October 2007.
66. Government of Alberta. New programs promote better health for children and youth. 2006. Available at www.gov.ab.ca/acn/200609/20573F516B93A-F6B0-E6D2-5886A88B8708BC9D.html, accessed 1 October 2007; 98:284–286.
67. Eggertson L. Canada lags on newborn screening. CMAJ. 2005;173:23.
68. Avard D, Vallance H, Greenberg C, Potter B. Newborn screening by tandem mass spectrometry: Ethical and social issues. Can J Public Health. 2007; 98:284–286. | PubMed |
69. Health Canada. Family-centred maternity and newborn care: National guidelines. 2000. Available at http://www.phac-aspc.gc.ca/dca-dea/prenatal/fcmc1_e.html, accessed 1 October 2007: www.phac-aspc.gc.ca/dca-dea/pdfa_Zenglish.html#f14.
70. Canadian Task Force on Preventive Health Care. Website. Available at www.ctfphc.org/, accessed 1 October 2007.
71. Canadian College of Medical Geneticists. Position statement – genetic testing of children. Available at http://ccmg.medical.org/, accessed 1 October 2007.
72. Canadian College of Medical Geneticists. CF testing/screening statement. Available at http://ccmg.medical.org/, accessed 1 October 2007.
73. Canadian Paediatric Society. Guidelines for genetic testing of healthy children. Position statement (B 2003-01). Paediatr Child Health. 2003;8:42–45.
74. Canadian Cystic Fibrosis Foundation. CCFF commends Alberta Health and Wellness' landmark decision to screen newborns for CF. 2006. Available at www.cysticfibrosis.ca/news.asp?id=368, accessed 1 October 2007.
75. Canadian Cystic Fibrosis Foundation. CCFF commends the government of Ontario's decision to screen newborns for CF. 2006. Available at www.cysticfibrosis.ca/news.asp?id=387, accessed 1 October 2007.
76. Canadian Organization for Rare Disorders. Position statement on newborn screening September 27, 2005, as quoted in the Legislative Assembly of Ontario on September 28, 2005. Available at http://www.ontla.on.ca/committee-proceedings/transcripts/files_pdf/2005-09-28_pdfT016.pdf, accessed 1 October 2007(see statement from John Adams, representative of the Canadian Organization for Rare Disorders).
77. Gauvin FP, Abelson J. Primer on Public Involvement. Health Council of Canada, 2006. Available at www.healthcouncilcanada.ca, accessed 1 October 2007. ISBN 0-9739726-2-9 2.
78. Leroux T, Hirtle M, Fortin LN. An overview of public consultation mechanisms developed to address the ethical and social issues raised by biotechnology. Journal of Consumer Policy. 1998;21:445–481. | Article |
79. Tritter JQ, McCallum A. The snakes and ladders of user involvement: Moving beyond Arnstein. Health Policy. 2006;76:156–168. | Article | PubMed |
80. Abelson J, Eyles J, McLeod CB, Collins P, McMullan C, Forest PG. Does deliberation make a difference? Results from a citizens panel study of health goals priority setting. Health Policy. 2003;66:95–106. | Article | PubMed |
81. Dolan P, Cookson R, Ferguson B. Effect of discussion and deliberation on the public's views of priority setting in health care: focus group study. BMJ. 1999;318:916–919. | PubMed | ChemPort |
82. Marin A. The right to be impatient. Whether the Ministry of Health and Long-Term Care has failed to properly administer Newborn Screening in Ontario. Ombudsman report. Ombudsman of Ontario, 2005. Available at http://www.ombudsman.on.ca/UploadFiles/File/PDF/TheRightToBeImpatient_REPORT.pdf, accessed 1 October 2007.
83. Kenny N, Giacomini M. Wanted: a new ethics field for health policy analysis. Health Care Anal. 2005;13:247–260. | Article | PubMed |

Acknowledgements

We thank all of the individuals at various stakeholder organizations who provided us with information for our review. We gratefully acknowledge Peter O'Leary and David Elliman, who provided comments on an earlier draft of this paper. We take full responsibility for any errors or omissions. This project was supported by a Stichting Porticus Foundation Scholarship (BKP) and by a Canadian Institute of Health Research post-doctoral fellowship (BKP).

About the Authors

Beth K. Potter, PhD, is Assistant Professor, Department of Epidemiology and Community Medicine, University of Ottawa.

Denise Avard, PhD, is Associate Professor, Centre de recherche en droit public, Faculty of Law, University of Montreal and Research Director for the Genetics and Society Project. She is also past Executive Director of the Canadian Institute of Child Health.

Brenda J. Wilson, B.Sc., MBChB, M.Sc., MRCP(UK), FFPH, is Associate Professor, Department of Epidemiology and Community Medicine, University of Ottawa.