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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

Exploring existing and deliberated community perspectives of newborn screening: informing the... Objective: Since the 1960s newborn screening (NBS) for several rare and serious disorders has been in place across Australia. Testing of a simple blood spot now enables the early detection of over 30 conditions. Policies across Australian states have diverged in some aspects of NBS, especially in the retention and further use of dried blood spots collected as part of the screening and attempts are underway to bring some further national consistency. Whilst this has initiated debate amongst health professionals and policy makers there is limited empirical evidence of wider community attitudes to such issues. Methods: This research has explored the range and depth of views held by the wider community in New South Wales through moderated small group discussions. It has also assessed the range and depth of responses where the groups are reconvened after being given further information. Results: The findings suggest that there is limited community awareness of the public health importance of NBS and especially that resulting biological samples are stored. Members of the wider community presented with opportunities to consider current procedures and policies appear reassured and to have high levels of trust. However there are clearly some groups who have concerns with the storage of dried blood spot specimens and perceive that these may be abused. Policy implications and conclusion: The findings will inform health professionals and policy makers as to the perceived benefits and future challenges NBS raises for the wider community. The findings have implications for improving current communications about NBS, maintaining public confidence and the development of state and national initiatives in genetic health. Background Australia since the late 1960s. The programs were initiated Newborn Screening (NBS) programs based upon blood by the development of a biochemical assay by Guthrie to samples from newborn babies have been operating in detect the chemical imbalances found in the blood of Page 1 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 babies affected by phenylketonuria (PKU) [1]. Screening The stored specimens may be used for quality assurance was expanded to include testing for congenital hypothy- and audit practices by the laboratory and for the develop- roidism, galactosaemia and cystic fibrosis [2,3]. The intro- ment of test protocols to further expand newborn screen- duction in recent years of testing using Tandem Mass ing. They may also be used, with the consent of parents, Spectrometry (TMS) methods [4] has enabled the inclu- for the medical benefit of the family such as enabling pre- sion of a much larger panel of conditions. natal testing in future pregnancies where information from an affected child is otherwise unavailable. In the Australian state of New South Wales (NSW) the col- lected newborn blood spots are currently screened for In addition, dried blood spot specimens may also be used about 30 conditions where early detection and treatment for Human Research Ethics Committee (HREC) approved can positively impact on the health of an affected child medical research [11]. Other uses include forensic testing. and family. Annually about 85,000 babies born in NSW A formal agreement between NSW Health and NSW [5] are screened and about 90 babies are diagnosed with Police provides a protocol for police access to the speci- one of the screened conditions following a positive mens as part of their investigations [12]. screening test. The blood sample, taken by heel-prick 48– 72 hours after birth, is dried on cards originally known as Approximately 400 dried blood spot specimens from Guthrie cards but which are now more appropriately NSW have been used in the last 3 years for HREC referred to as dried blood spot specimens [6]. approved research and about ten dried blood spot speci- mens since 2002 have been requested by the Police for the NSW Health policy [7] directs that informed verbal paren- identification of remains of a person (personal communi- tal consent must be obtained before the procedure is car- cation Bridget Wilcken, Director NBS laboratory, NSW). ried out. The policy also requires that information is provided prior to testing in the form of a pamphlet [8] While NBS programs have been operating in Australia for and that discussion should take place between health pro- over 40 years, the experiences, awareness, perceptions and fessionals and parents. It requires that consent is noted in attitudes towards NBS amongst the wider community the medical record of the mother and or child. Most par- have not been formally explored. In 2005 the Centre for ents do consent to screening and in cases where parents Genetics Education undertook such a study exploring refuse NBS, policy requires that refusal is recorded in the views about the program in NSW including the retention mother's or baby's file. The parents are only informed of and further use of the dried blood spot specimens. the test results from NBS if the result indicates a problem or further testing is required. This paper focuses on consumer awareness and under- standing of NBS and in particular views towards the reten- Screening programs in other Australian states have many tion and further use of the specimens. Responses to issues similarities to NSW although there are some differences of consent, information provision and the potential to [2]. Whilst there has been some variation in the past as to further expand NBS are being reported separately. precisely what conditions are tested for these are now essentially aligned apart from some technical differences Methods in biochemical testing methods and their implementa- A reconvened group discussion methodology, based upon previous studies exploring public perceptions of medical tion. Protocols for collecting verbal consent vary slightly and there is also some variation in the content of educa- research [13], was used which allowed exploration of tional information offered in advance to parents. both existing and more deliberated viewpoints. The project and stimulus materials were developed with guid- The clearest difference in approach has been in the reten- ance from an Expert Advisory Group (EAG) with experi- tion policies for dried blood spot specimens which differ ence of NBS, policy, health ethics and communications. significantly across Australian states. Some states retain The research protocol was approved by the institution's dried blood spot specimens indefinitely and others hold Human Research Ethics Committee. them for just two years before they are destroyed [9]. In NSW the dried blood spot specimens are stored for 18 Sample and recruitment years in a secure facility at the NBS Laboratory after which Discussions were undertaken with nine groups: 40 partic- time they are destroyed [7]. The development of a uni- ipants in total, comprising 24 women and 16 men (Table form approach to newborn screening has been recom- 1). Groups were structured such that participants shared mended by the Australian Law Reform Commission [9] similar socioeconomic backgrounds and were single sex and has also received support from the Australian Govern- to promote the development of group dynamics. It was ment [10]. intended to engage a cross section of distinct groups with potentially different stakeholder perspectives of newborn Page 2 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 screening and the use of the stored dried blood spot spec- Simple stimulus materials were developed to provide imens. The groups included young adults whose dried some focus for further discussion and deliberation around blood spot specimens had recently been destroyed, newborn screening and storage of the blood spot speci- recruited through youth agencies in regional NSW mens. The materials covered current and potential future (Groups 1–2); parents who had likely recently experi- NBS testing; consent procedures and policies; the storage enced NBS, recruited through several Child Health Cen- and further use of the dried blood spot specimens; and the tres in suburban Northern and Western Sydney (Groups rules governing access to them. The information was pre- 3–5) and parents with older children where the child's sented as several show-cards which covered the informa- NBS died blood spots were being stored, recruited tion contained in the NSW NBS pamphlet [8] in simple through a professional market research field recruitment bullet-point format. Additionally four short scenarios agency in suburban Northern and Western Sydney were developed which were selected as examples covering (Groups 6–9). the range of issues under deliberation: Participants were provided with refreshments, childcare 1. A mother whose child is diagnosed with PKU support where required and a $50 shopping voucher for attending both sessions. 2. A couple overseas whose child is diagnosed with Duch- enne muscular dystrophy Discussion format Each group met initially for about 90 minutes. Interviews 3. A couple who have been asked to consent to the further were conducted using an agreed topic guide and by pre- use of a stored dried blood spot specimen senting stimulus materials intended to support further in- depth discussion. The discussions about NBS were intro- 4. A woman who wishes to access a dried blood spot spec- duced from a base of general health perceptions and infor- imen in a paternity legal action. mation sources which then moved to understanding of the concepts of screening and testing in general. Whilst Analysis the research approach and use of the stimulus materials Group discussions were audio recorded and transcribed. Where possible the individual speaking within a group required some structure and order to the conversation, it was also possible to consider issues as they were naturally was identified in the transcript such that comments could raised by participants. be followed through each session and used in the analysis. Each group was reconvened between one and three weeks Transcripts were analysed using a Framework methodol- later. All but two of the younger women in Group 1 ogy [14] to identify and code common themes, using attended the reconvened sessions. These sessions were Microsoft Excel spreadsheets which allowed cross tabula- moderated in a less structured manner and focused upon tion of individual responses against these themes. Where the issues that participants themselves raised after having necessary, further development and editing of themes considered the issues and sought out the views of others were undertaken during the coding process. Consistency in the community. The intention here was to examine in coding was validated by the authors independently how participants had considered the issues over time and coding several transcripts with differences discussed and to what extent their views had developed. Emphasis was resolved. placed upon discussions of the storage and further usage of the dried blood spot specimens. Table 1: Sample Characteristics for Group Discussions Group Gender No. Participants Age Youngest Child Area 1F 8- Regional NSW 2M 3- Northern Sydney 3F 4< 6 months Inner West Sydney 4M 3< 2 years Northern Sydney 5 F 3 < 6 months North West Sydney 6F 45 –18 years Northern Sydney 7M 55 –18 years North West Sydney 8F 55 –18 years Inner West Sydney 9M 55 –18 years Inner West Sydney Page 3 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 tially realise that many of the conditions detected were Results Exploring Newborn Screening inherited in families. For most participants NBS was not a familiar term by itself but they associated it with a number of newborn interven- When presented with the first scenario which covered cur- tions of which they had some experience. The concept was rent PKU screening their responses were overwhelmingly also associated with other procedures such as vitamin K positive. None of the participants raised personal or spe- injections and Hepatitis B vaccination. There was little cific concerns with testing for PKU. Participants assumed specific knowledge of protocols, procedures and rules that almost all parents would see the value in screening related to NBS. for such a treatable condition. Most also reacted positively to the further expansion of screening to include additional The key trigger for most participants who recalled the test conditions, such as Duchenne muscular dystrophy, where was mention of the heel prick blood test rather than the there are more limited, if any, options available. At the term 'Newborn Screening'. The heel prick was recalled by same time, there was recognition of the impact of such an most women with young babies and with older children early diagnosis on parenting and the family. Further anal- and was also reported by all the younger fathers; a few of ysis of the discussion surrounding the conditions the fathers with older children also had quite distinct rec- included in NBS and information provision is being sep- ollections of the test being done. In particular parents arately reported. recalled whether they had been present at the time of the Storage of the dried blood spot specimens test and whether the baby cried after the heel prick. Another common recollection was that this was the test Participants were prompted to discuss their wider experi- where parents were only informed of the results if there ence, knowledge and views towards healthcare related to was some problem. tissue and blood samples. Such understanding was lim- ited, with almost all believing that such health samples Recollection of the heel prick was not generally linked to would be destroyed after initial testing. Common reasons an understanding of what specifically was being tested for cited were that storage would serve no purpose; the sam- but this did not seem a cause of concern. One father who ple is no longer needed; the patient can just give another had videotaped his child having a heel prick stated: "I sample if it is necessary and the results are probably kept don't know what they test for. I know it's something good. It's but physical samples would be impractical to store. On Group4a not bad" . Some participants suggested that the heel probing and with further reflection a few suggested that prick was part of testing for conditions such as autism, there could be some value in storing certain samples, HIV, jaundice or blood clotting diseases. A few partici- especially tissue for further testing and medical research. pants seemed more confident in their knowledge and stated that the heel prick test was for cystic fibrosis. Two All participants were initially unaware that the dried individuals recalled that the test was in some way linked blood spot specimens, including those of their own chil- Groups4a,5a to the "artificial sweetener condition" [PKU] . In dren, were being stored. When presented with this infor- one case this information was gleaned from reading the mation on a show-card, reactions included surprise, label on the can of a diet soft drink. The other participant curiosity and even shock. It immediately raised general (a woman with several family members in the medical questions such as "What's the point of storing these blood profession) specifically mentioned that one of the condi- spots?", "Why the 18 years?" and "Wouldn't such widespread tions included was called PKU and that individuals storage be cumbersome?" Considering this new knowledge affected needed to follow a special diet. NBS was generally that the dried blood spot specimens were stored led some unfamiliar to the two groups of younger people (Groups to begin considering what had happened to other health 1–2) even when prompted by the term "heel prick". samples that had been taken from them. Support for Newborn Screening Participants also found that the friends and family with All participants were highly supportive of the principles of whom they spoke between the discussion sessions were current NBS as outlined in the show-card presented to equally unaware that the dried blood spot specimens were them. Early detection of a condition was a key positive kept. Only one participant found someone who was aspect for them. They knew little about the specific condi- already aware that they were stored: their partner had seen tions detected and were surprised to hear that as many as a national television show that included some discussion 30 different conditions could be detected by NBS. A few about the storage of the specimens. Almost all partici- participants were keen to have further information about pants felt that it was vital for parents to know that the Group9a, Group9b these other unfamiliar "alphabet diseases" dried blood spot specimens are stored for 18 years and currently included in NBS. Participants often did not ini- potentially used for various purposes. Page 4 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 Using the dried blood spot specimens health would not happen without such commercial When asked to further consider and speculate just why motives. The idea of more commercially oriented research they thought the dried blood spot specimens were stored, was often more palatable if there could be some clear unprompted responses included that they could be used return of benefits to the community or public health sys- for quality assurance or re-testing. Some participants felt tem. they could be useful for the family to find a reason for an illness that had later affected their child. Some considered Whilst participants generally agreed that there would be it would be possible to extract DNA from them. Others some research areas and situations they would find prob- had not previously made this link but as they considered lematic, they were generally prepared to let these deci- what they knew about DNA forensics from popular televi- sions lie with others representing the public good such as sion dramas it was clear to them this was indeed a possi- research ethics committees. The concept and role of such bility. bodies was also easily grasped and even though little was known about their workings a high level of trust and sup- (a) 'Family' port was expressed for their judgments. The possible use of the dried blood spot specimens by families was often interpreted as parents being able to (c) Access by police and courts access them at a later date for further health information Access to the samples by the police for identifying missing about their children. This included exceptional circum- persons and solving crimes was not controversial for stances such as using them to later investigate why a child many participants and several saw considerable potential had died. value in the stored samples to identify missing children. They cited media stories published during the fieldwork More commonly there was the perception that the stored period which documented attempts to identify a missing specimens might provide some direct benefits to the child child using DNA testing [15]. Popular television shows or family. It was suggested that parents may desire further focusing on forensics were often mentioned as a source of tests on the specimens as their child grew up and that tak- knowledge about the use of DNA from blood samples in ing another blood sample from the child could be identifying human remains, missing persons and in solv- avoided by accessing them. Concern was expressed ing crimes. among some of the younger women whose specimens had recently been destroyed that they would 'miss out' on Several participants also viewed positively the potential to these perceived personal and family benefits. use the dried blood spot specimens in some manner to identify a suspect in a crime and for many it was a case of Group (b) Medical research "if you have nothing to hide what would the problem be?" 3b Use in medical research was generally viewed support- . However in each group of men some concern was ively. It was widely agreed that parents should be expressed about the behaviour of the police and potential informed and consulted if identifying information would misuse of the dried blood spots. Those men who be provided to researchers requesting the dried blood spot expressed such concerns demonstrated a clear general lack specimens. The concept of research upon anonymised of trust in the police. While outlining the current agree- samples was clearly grasped and seeking parental consent ment in NSW between police and health authorities in such cases only viewed as important by a few. A couple appeared to be reassuring, there was still some continuing of individuals in different groups came up with the sug- concern expressed among several of the male participants. gestion that the samples could be permanently ano- Even if the blood spot sample was released initially for nymised at 18 years by simply cutting off the identifying apparently legitimate reasons these men suggested it information from the card and this could extend the life might later be used for other illicit purposes including of this apparently valuable research resource. such as by corrupt police officers to frame an individual. Unacceptable uses of the dried blood spot specimens for Scenario four raised the potential use of samples for pater- research commonly included human cloning and any nity testing and the involvement of the courts stimulated research that might lead to discrimination by insurers or some further discussion. The justice system was seen as employers. Some had strong views that access by pharma- the appropriate mechanism through which requests for ceutical and biotechnology companies should be resisted, access to the specimens in cases such as this should pro- views that were underpinned by a belief that health ceed. A common response was that if the court demanded research and developments should not be driven by a access to the dried blood spots for testing, little resistance profit principle. It was also argued that commercial com- could be made. panies might bias or manipulate research findings. Such suggestions prompted others to counter that advances in Page 5 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 (d) Retention of dried blood spot specimens, ownership and records access the stored dried blood spot if ever necessary. Such A common initial response to learning about the storage comments were in the context of the perceived direct per- of the dried blood spot specimens was to query how prac- sonal benefit from the storage. They questioned in such tical this was and the space requirements it raised. Ques- cases if it was possible for the specimens to be transferred tions were raised as to how securely access was controlled between states. and it was suggested that no system could ever be impen- etrable to abuse. A number of participants, mostly men, Discussion cited media coverage of the inappropriate use of personal Participants in this study had some vague initial under- information by police, other government agencies and standing of the procedures of NBS, yet they knew very lit- private companies which illustrated how public privacy tle about its specific purpose and implications. There concerns had increased in recent years. Privacy concerns would also seem to be a very low level of community such as identify theft, credit card fraud and problems with awareness that the dried blood spots are stored and internet security highlighted to them that storing the dried indeed many people do not seem to have previously con- blood spot specimens raised privacy and security issues. sidered what happens to other biological samples they Several male participants suggested unprompted that the have given in health settings. samples could be used to create a DNA database. While the concept of accessing the dried blood spots for The rationale for the 18 year storage period for the NSW other uses was new to the groups, all quickly understood dried blood spot specimens perplexed several partici- the issues and were able to participate in the discussions. pants. While several participants suggested that they be Despite the surprising discovery that these dried blood stored for longer, others suggested that the current cut off spot specimens were kept, there was no evident rush to was likely explained in some way by the child reaching demand they should be destroyed because they were una- maturity and therefore fresh consent might need to be ware of their existence. It appeared that this high level of sought. community trust and support for storage was under- pinned in part by a misconception that the specimens A common question posed was why the specimens were could commonly have direct future personal benefit to an not stored for longer if they had such value for further individual. It was evident that when participants were dis- medical research. Based on what they had heard and cussing testing as part of NBS, they were also often consid- learnt in the group discussions most were prepared to ering that the dried blood spots might be used for accept the existing position of 18 years. No participant additional tests at a later date in a child's development. In suggested that currently stored dried blood spot speci- reality examples of benefits for the family, where they mens should be destroyed prior to the current 18 year occur, are in enabling prenatal testing and for forensic retention period. identification. Generally ownership of the specimens was not claimed by The support for the use of the dried blood spot specimens participants although they did view that they had some in medical research may be reassuring. All participants rights over them and should have some say over how they grasped the distinctions between identified and ano- were used. A distinction was made by several participants nymised research and seemed satisfied with the rules and between the storage of the specimen itself and the records regulations as they were presented to them. This study containing the results derived from testing. They ques- found very high levels of trust in the medical profession tioned whether the electronic records were also destroyed and government regulation. There was very little ques- after 18 years. tioning of the mechanisms in place to oversee research upon samples and rather participants were accepting that In the reconvened groups moderators raised the fact that if an ethics committee is in place it can be trusted to act in there were different storage retention policies in different the public good. There was little evidence of the mistrust Australian states. The variation was surprising and unset- and cynicism with scientists and institutions that has been tling for many participants. They had expected that the described in some European Countries [16]. NBS policies and issues they were discussing would be similar across Australia. The fact that the retention periods Support amongst participants for use of dried blood spot differed so significantly led them to question if there was specimens in identifying missing persons was particularly further information available which might provide a strong. Linked to this view were the concerns raised by rational explanation. young people whose specimens had recently been destroyed about the loss of utility for them in this context. Concerns were also expressed if an individual relocated to There was some support in this study for the use of dried another Australian state it may be difficult for them to blood spot specimens by police to identify suspects in Page 6 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 criminal cases. Findings from international public surveys ties in engaging consumers and assessing their views. [17] also suggest that many members of the public, at When asked in the survey, almost one in three mothers least in the UK, would express support for this use. While supported the current two year retention for dried blood this general support for access to the cards by the police spot specimens. However these mothers also noted that indicates that many may view this positively, it was also they did not possess adequate knowledge of the issues to very clear that there were a number of participants consider any alternative options for retention policies and strongly objected to access by such third parties. Trust, or therefore supported the status quo as presented to them. It lack thereof, seemed to underpin these views as well as the is in situations such as this that there is significant value experiences of some of the participants, particularly men, in a more deliberative approach to exploring valid com- in the use of electronic data. Concerns were also expressed munity views. In contrast to the Western Australian study, about the privacy and security of the samples, the possibil- we did not discern broad concern for the extended storage ity of identity fraud as well as inappropriate use of data of the dried blood spots. This significant difference may and forensic samples by the police. reflect the background and experience of the participants as well as the more deliberative consideration of the issues Whilst many in the community may have high levels of enabled by the methodologies used in our study. The trust this is likely to be impacted by critical media cover- findings from the study presented here provide a basis for age of a NBS program. In this context it is noteworthy that, further research exploring any differences in perspectives to date, there has been little media coverage, of any form, of the wider Australian community. related to NBS in NSW. A search, using an online cata- logue, for recent media articles about NBS revealed almost All methodologies which attempt to explore and consider nothing in NSW yet several stories raising concerns about public attitudes and opinion have their own limitations. the dried blood spot specimens were found from other Whilst the qualitative approach used here was designed to Australian states and also from New Zealand [18,19]. capture a range of different perspectives it does not claim Some health professionals in other Australian states have to present a representative picture of the population's suggested that the concerned media and "conspiracy the- views. This study included few people from culturally orists" should be reassured by the strict controls that diverse backgrounds or other groups whose views may be already exist to protect information [20]. However it is quite different from those reported. It is worth noting that also clear that it is better to consider and address at the several studies in other countries suggest that those from outset issues which are likely to be sensitive or have the certain ethnic minority backgrounds are much more likely potential to raise controversy in the community. Once to have concerns with the storage of biological samples, lost public trust can be very difficult to rebuild and in part access to genetic databases by third parties and lower level it needs to be maintained by listening to public concerns of trust in health providers [17,22]. We would expect seriously, even if they appear at first irrational, and by there to be some further sensitivities towards NBS pro- considering what underlies them [16]. grams amongst these and other vulnerable groups. The qualitative approach used here presents opportunities Furthermore in this study discussions about NBS and for extended discussion, consideration of information associated issues of storage and further use were framed in and further deliberation over a few days. It therefore sup- the context of health, testing and screening generally. NBS ports a deeper exploration and understanding of commu- was presented to participants in a medical context which nity views than some other methodologies. It is evident initially highlighted its direct application in detecting rare from our findings that a quantitative approach, such as and treatable conditions. It was on this canvas that further implementing a survey, would be of limited initial value discussion was initiated. Many participants seemed to in engaging these stakeholder groups in policy issues. find it difficult to move beyond the immediate perceived Whilst many people would probably give a response to a personal benefits NBS testing and dried blood spot speci- survey question, if they do not understand the question men storage could offer them. and the background, some responses may simply be 'non- opinions'. Genuine community consultation is essential to support attempts to develop national policy standards especially Public opinion polls and surveys do have a role in inform- in areas which are currently of greatest divergence, notably ing health policy development in this area. A recent mail the retention and further use of dried blood spot speci- survey of mothers from Western Australia generally con- mens. It will require an understanding of community per- firms the picture we have found in that many parents do spectives and their involvement in building a model not feel well informed about NBS and storage of the dried which has widespread support. It will also likely require blood spot specimens [21]. Nevertheless the survey find- some further development and testing of appropriate ings also highlighted some of the methodological difficul- public involvement methodologies. Page 7 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 perspectives as consumers of genetics services. Those we Policy implications and conclusion This deliberative and consultative process has provided spoke to embraced the sometimes challenging and com- rich data to inform the development of state and national plex issues, considered these carefully and were willing to policies in NBS. It especially provides a deeper insight into share and listen to views of others. They were also willing community views of the retention and storage of dried to problem solve and make positive suggestions as to how blood spot cards. The findings suggest that, with the pro- policies and practices could be further developed. This vision of information and opportunities for deliberation, bodes well for a more inclusive strategy in the develop- many members of the wider community are likely to sup- ment of public policies in the developing field of genetic port the extended storage of dried blood spot specimens heath. and their use in medical research. Acknowledgements We are indebted to the members of the NSW community who participated The printed materials offered to parents in NSW [8] are in this research. notable in that they explicitly outline that the blood spot cards are stored and how they may be accessed and used We would also like to thank the members of the project's Expert Advisory in the future. However it would seem that many parents Group who kindly gave their time, comments and enthusiasm. fail to absorb or are aware of this information. In line with the findings of this study NSW Health NBS policy has References recently been updated and now includes further advice for 1. Guthrie R, Susi A: A simple phenylalanine method for detect- ing phenylketonuria in large populations of newborn infants. health professionals to effectively communicate to par- Paediatrics 1963, 32:338-343. ents that the blood spots cards are stored [7]. 2. Wilcken B: Does every baby get a newborn screening test? 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How to manage and display quali- regarding storage of dried blood spot cards were identified tative data using 'Framework' and Microsoft Excel. Journal of as a matter of concern that required rationalization. One Clinical Nursing 2003, 12:610-612. 15. King D: DNA Test For Schoolgirl Who Could Be Baby Tegan. aspect participants highlighted was that family members, The Australian . 2005 June 13. often dispersed geographically, should have equitable 16. House of Lords Select Committee on Science and Technology: Third access to the perceived benefits in storing the dried blood Report, Science and Society. UK 2000. 17. Human Genetics Commission: Public Attitudes To Human Genetic Infor- spots. mation. People's Panel Quantitative Study. UK 2001. 18. Macleod S: Third parties increasingly access material from This study demonstrates that members of the wider com- blood bank DNA. New Zealand Herald. Auckland (NZ) . 2003 November 26. munity are clearly able to engage and consider some of 19. Giles T, Kelly J: Baby DNA confusion. Parents unaware of gene complex issues and grasp some of the key scientific, social bank. Herald-Sun. Melbourne . 2005 February 7. 20. Skene L, Bankier A: Retention of Guthrie Cards: Reassuring and ethical issues raised by developments in genetic Parents. Medicine Today 2004, 5:68-71. health. These participants were not specialists in health, 21. Davey D, French D, Dawkins H, O'Leary D: New mothers' aware- policy or ethics yet they were able to contribute unique ness of newborn screening, and their attitudes to the reten- Page 8 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 tion and use of screening samples for research purposes. Genomics, Society and Policy 2005, 1(3):41-51. 22. The Wellcome Trust, Medical Research Council: Public Perceptions of the Collection of Human Biological Samples. Qualitative research to explore public perceptions of human biological samples. UK 2002. 23. Suriadi C, Jovanovska M, Quinlivan JA: Factors affecting mothers' knowledge of genetic screening. Australian and New Zealand Jour- nal of Obstetrics and Gynaecology 2004, 44(1):30-34. 24. State Government Victoria, DOHR: Request for Quotation. Report into Informed Parental Consent for Newborn Screening in Victoria 2005. 25. Health Issues Centre: Response to the Australian Health Ministers' Advi- sory Council (AHMAC) Advisory Group's Consultation Document (Principles and Guidelines for Newborn Screening – a uniform approach to newborn screening based on bloodspots for Australia) . 2005 November 11. 26. Victorian Government Department of Human Services: Victorian New- born Screening Review Committee. 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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

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Springer Journals
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Copyright © 2006 by Muchamore et al; licensee BioMed Central Ltd.
Subject
Medicine & Public Health; Public Health; Social Policy
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1743-8462
DOI
10.1186/1743-8462-3-14
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17164009
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Abstract

Objective: Since the 1960s newborn screening (NBS) for several rare and serious disorders has been in place across Australia. Testing of a simple blood spot now enables the early detection of over 30 conditions. Policies across Australian states have diverged in some aspects of NBS, especially in the retention and further use of dried blood spots collected as part of the screening and attempts are underway to bring some further national consistency. Whilst this has initiated debate amongst health professionals and policy makers there is limited empirical evidence of wider community attitudes to such issues. Methods: This research has explored the range and depth of views held by the wider community in New South Wales through moderated small group discussions. It has also assessed the range and depth of responses where the groups are reconvened after being given further information. Results: The findings suggest that there is limited community awareness of the public health importance of NBS and especially that resulting biological samples are stored. Members of the wider community presented with opportunities to consider current procedures and policies appear reassured and to have high levels of trust. However there are clearly some groups who have concerns with the storage of dried blood spot specimens and perceive that these may be abused. Policy implications and conclusion: The findings will inform health professionals and policy makers as to the perceived benefits and future challenges NBS raises for the wider community. The findings have implications for improving current communications about NBS, maintaining public confidence and the development of state and national initiatives in genetic health. Background Australia since the late 1960s. The programs were initiated Newborn Screening (NBS) programs based upon blood by the development of a biochemical assay by Guthrie to samples from newborn babies have been operating in detect the chemical imbalances found in the blood of Page 1 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 babies affected by phenylketonuria (PKU) [1]. Screening The stored specimens may be used for quality assurance was expanded to include testing for congenital hypothy- and audit practices by the laboratory and for the develop- roidism, galactosaemia and cystic fibrosis [2,3]. The intro- ment of test protocols to further expand newborn screen- duction in recent years of testing using Tandem Mass ing. They may also be used, with the consent of parents, Spectrometry (TMS) methods [4] has enabled the inclu- for the medical benefit of the family such as enabling pre- sion of a much larger panel of conditions. natal testing in future pregnancies where information from an affected child is otherwise unavailable. In the Australian state of New South Wales (NSW) the col- lected newborn blood spots are currently screened for In addition, dried blood spot specimens may also be used about 30 conditions where early detection and treatment for Human Research Ethics Committee (HREC) approved can positively impact on the health of an affected child medical research [11]. Other uses include forensic testing. and family. Annually about 85,000 babies born in NSW A formal agreement between NSW Health and NSW [5] are screened and about 90 babies are diagnosed with Police provides a protocol for police access to the speci- one of the screened conditions following a positive mens as part of their investigations [12]. screening test. The blood sample, taken by heel-prick 48– 72 hours after birth, is dried on cards originally known as Approximately 400 dried blood spot specimens from Guthrie cards but which are now more appropriately NSW have been used in the last 3 years for HREC referred to as dried blood spot specimens [6]. approved research and about ten dried blood spot speci- mens since 2002 have been requested by the Police for the NSW Health policy [7] directs that informed verbal paren- identification of remains of a person (personal communi- tal consent must be obtained before the procedure is car- cation Bridget Wilcken, Director NBS laboratory, NSW). ried out. The policy also requires that information is provided prior to testing in the form of a pamphlet [8] While NBS programs have been operating in Australia for and that discussion should take place between health pro- over 40 years, the experiences, awareness, perceptions and fessionals and parents. It requires that consent is noted in attitudes towards NBS amongst the wider community the medical record of the mother and or child. Most par- have not been formally explored. In 2005 the Centre for ents do consent to screening and in cases where parents Genetics Education undertook such a study exploring refuse NBS, policy requires that refusal is recorded in the views about the program in NSW including the retention mother's or baby's file. The parents are only informed of and further use of the dried blood spot specimens. the test results from NBS if the result indicates a problem or further testing is required. This paper focuses on consumer awareness and under- standing of NBS and in particular views towards the reten- Screening programs in other Australian states have many tion and further use of the specimens. Responses to issues similarities to NSW although there are some differences of consent, information provision and the potential to [2]. Whilst there has been some variation in the past as to further expand NBS are being reported separately. precisely what conditions are tested for these are now essentially aligned apart from some technical differences Methods in biochemical testing methods and their implementa- A reconvened group discussion methodology, based upon previous studies exploring public perceptions of medical tion. Protocols for collecting verbal consent vary slightly and there is also some variation in the content of educa- research [13], was used which allowed exploration of tional information offered in advance to parents. both existing and more deliberated viewpoints. The project and stimulus materials were developed with guid- The clearest difference in approach has been in the reten- ance from an Expert Advisory Group (EAG) with experi- tion policies for dried blood spot specimens which differ ence of NBS, policy, health ethics and communications. significantly across Australian states. Some states retain The research protocol was approved by the institution's dried blood spot specimens indefinitely and others hold Human Research Ethics Committee. them for just two years before they are destroyed [9]. In NSW the dried blood spot specimens are stored for 18 Sample and recruitment years in a secure facility at the NBS Laboratory after which Discussions were undertaken with nine groups: 40 partic- time they are destroyed [7]. The development of a uni- ipants in total, comprising 24 women and 16 men (Table form approach to newborn screening has been recom- 1). Groups were structured such that participants shared mended by the Australian Law Reform Commission [9] similar socioeconomic backgrounds and were single sex and has also received support from the Australian Govern- to promote the development of group dynamics. It was ment [10]. intended to engage a cross section of distinct groups with potentially different stakeholder perspectives of newborn Page 2 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 screening and the use of the stored dried blood spot spec- Simple stimulus materials were developed to provide imens. The groups included young adults whose dried some focus for further discussion and deliberation around blood spot specimens had recently been destroyed, newborn screening and storage of the blood spot speci- recruited through youth agencies in regional NSW mens. The materials covered current and potential future (Groups 1–2); parents who had likely recently experi- NBS testing; consent procedures and policies; the storage enced NBS, recruited through several Child Health Cen- and further use of the dried blood spot specimens; and the tres in suburban Northern and Western Sydney (Groups rules governing access to them. The information was pre- 3–5) and parents with older children where the child's sented as several show-cards which covered the informa- NBS died blood spots were being stored, recruited tion contained in the NSW NBS pamphlet [8] in simple through a professional market research field recruitment bullet-point format. Additionally four short scenarios agency in suburban Northern and Western Sydney were developed which were selected as examples covering (Groups 6–9). the range of issues under deliberation: Participants were provided with refreshments, childcare 1. A mother whose child is diagnosed with PKU support where required and a $50 shopping voucher for attending both sessions. 2. A couple overseas whose child is diagnosed with Duch- enne muscular dystrophy Discussion format Each group met initially for about 90 minutes. Interviews 3. A couple who have been asked to consent to the further were conducted using an agreed topic guide and by pre- use of a stored dried blood spot specimen senting stimulus materials intended to support further in- depth discussion. The discussions about NBS were intro- 4. A woman who wishes to access a dried blood spot spec- duced from a base of general health perceptions and infor- imen in a paternity legal action. mation sources which then moved to understanding of the concepts of screening and testing in general. Whilst Analysis the research approach and use of the stimulus materials Group discussions were audio recorded and transcribed. Where possible the individual speaking within a group required some structure and order to the conversation, it was also possible to consider issues as they were naturally was identified in the transcript such that comments could raised by participants. be followed through each session and used in the analysis. Each group was reconvened between one and three weeks Transcripts were analysed using a Framework methodol- later. All but two of the younger women in Group 1 ogy [14] to identify and code common themes, using attended the reconvened sessions. These sessions were Microsoft Excel spreadsheets which allowed cross tabula- moderated in a less structured manner and focused upon tion of individual responses against these themes. Where the issues that participants themselves raised after having necessary, further development and editing of themes considered the issues and sought out the views of others were undertaken during the coding process. Consistency in the community. The intention here was to examine in coding was validated by the authors independently how participants had considered the issues over time and coding several transcripts with differences discussed and to what extent their views had developed. Emphasis was resolved. placed upon discussions of the storage and further usage of the dried blood spot specimens. Table 1: Sample Characteristics for Group Discussions Group Gender No. Participants Age Youngest Child Area 1F 8- Regional NSW 2M 3- Northern Sydney 3F 4< 6 months Inner West Sydney 4M 3< 2 years Northern Sydney 5 F 3 < 6 months North West Sydney 6F 45 –18 years Northern Sydney 7M 55 –18 years North West Sydney 8F 55 –18 years Inner West Sydney 9M 55 –18 years Inner West Sydney Page 3 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 tially realise that many of the conditions detected were Results Exploring Newborn Screening inherited in families. For most participants NBS was not a familiar term by itself but they associated it with a number of newborn interven- When presented with the first scenario which covered cur- tions of which they had some experience. The concept was rent PKU screening their responses were overwhelmingly also associated with other procedures such as vitamin K positive. None of the participants raised personal or spe- injections and Hepatitis B vaccination. There was little cific concerns with testing for PKU. Participants assumed specific knowledge of protocols, procedures and rules that almost all parents would see the value in screening related to NBS. for such a treatable condition. Most also reacted positively to the further expansion of screening to include additional The key trigger for most participants who recalled the test conditions, such as Duchenne muscular dystrophy, where was mention of the heel prick blood test rather than the there are more limited, if any, options available. At the term 'Newborn Screening'. The heel prick was recalled by same time, there was recognition of the impact of such an most women with young babies and with older children early diagnosis on parenting and the family. Further anal- and was also reported by all the younger fathers; a few of ysis of the discussion surrounding the conditions the fathers with older children also had quite distinct rec- included in NBS and information provision is being sep- ollections of the test being done. In particular parents arately reported. recalled whether they had been present at the time of the Storage of the dried blood spot specimens test and whether the baby cried after the heel prick. Another common recollection was that this was the test Participants were prompted to discuss their wider experi- where parents were only informed of the results if there ence, knowledge and views towards healthcare related to was some problem. tissue and blood samples. Such understanding was lim- ited, with almost all believing that such health samples Recollection of the heel prick was not generally linked to would be destroyed after initial testing. Common reasons an understanding of what specifically was being tested for cited were that storage would serve no purpose; the sam- but this did not seem a cause of concern. One father who ple is no longer needed; the patient can just give another had videotaped his child having a heel prick stated: "I sample if it is necessary and the results are probably kept don't know what they test for. I know it's something good. It's but physical samples would be impractical to store. On Group4a not bad" . Some participants suggested that the heel probing and with further reflection a few suggested that prick was part of testing for conditions such as autism, there could be some value in storing certain samples, HIV, jaundice or blood clotting diseases. A few partici- especially tissue for further testing and medical research. pants seemed more confident in their knowledge and stated that the heel prick test was for cystic fibrosis. Two All participants were initially unaware that the dried individuals recalled that the test was in some way linked blood spot specimens, including those of their own chil- Groups4a,5a to the "artificial sweetener condition" [PKU] . In dren, were being stored. When presented with this infor- one case this information was gleaned from reading the mation on a show-card, reactions included surprise, label on the can of a diet soft drink. The other participant curiosity and even shock. It immediately raised general (a woman with several family members in the medical questions such as "What's the point of storing these blood profession) specifically mentioned that one of the condi- spots?", "Why the 18 years?" and "Wouldn't such widespread tions included was called PKU and that individuals storage be cumbersome?" Considering this new knowledge affected needed to follow a special diet. NBS was generally that the dried blood spot specimens were stored led some unfamiliar to the two groups of younger people (Groups to begin considering what had happened to other health 1–2) even when prompted by the term "heel prick". samples that had been taken from them. Support for Newborn Screening Participants also found that the friends and family with All participants were highly supportive of the principles of whom they spoke between the discussion sessions were current NBS as outlined in the show-card presented to equally unaware that the dried blood spot specimens were them. Early detection of a condition was a key positive kept. Only one participant found someone who was aspect for them. They knew little about the specific condi- already aware that they were stored: their partner had seen tions detected and were surprised to hear that as many as a national television show that included some discussion 30 different conditions could be detected by NBS. A few about the storage of the specimens. Almost all partici- participants were keen to have further information about pants felt that it was vital for parents to know that the Group9a, Group9b these other unfamiliar "alphabet diseases" dried blood spot specimens are stored for 18 years and currently included in NBS. Participants often did not ini- potentially used for various purposes. Page 4 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 Using the dried blood spot specimens health would not happen without such commercial When asked to further consider and speculate just why motives. The idea of more commercially oriented research they thought the dried blood spot specimens were stored, was often more palatable if there could be some clear unprompted responses included that they could be used return of benefits to the community or public health sys- for quality assurance or re-testing. Some participants felt tem. they could be useful for the family to find a reason for an illness that had later affected their child. Some considered Whilst participants generally agreed that there would be it would be possible to extract DNA from them. Others some research areas and situations they would find prob- had not previously made this link but as they considered lematic, they were generally prepared to let these deci- what they knew about DNA forensics from popular televi- sions lie with others representing the public good such as sion dramas it was clear to them this was indeed a possi- research ethics committees. The concept and role of such bility. bodies was also easily grasped and even though little was known about their workings a high level of trust and sup- (a) 'Family' port was expressed for their judgments. The possible use of the dried blood spot specimens by families was often interpreted as parents being able to (c) Access by police and courts access them at a later date for further health information Access to the samples by the police for identifying missing about their children. This included exceptional circum- persons and solving crimes was not controversial for stances such as using them to later investigate why a child many participants and several saw considerable potential had died. value in the stored samples to identify missing children. They cited media stories published during the fieldwork More commonly there was the perception that the stored period which documented attempts to identify a missing specimens might provide some direct benefits to the child child using DNA testing [15]. Popular television shows or family. It was suggested that parents may desire further focusing on forensics were often mentioned as a source of tests on the specimens as their child grew up and that tak- knowledge about the use of DNA from blood samples in ing another blood sample from the child could be identifying human remains, missing persons and in solv- avoided by accessing them. Concern was expressed ing crimes. among some of the younger women whose specimens had recently been destroyed that they would 'miss out' on Several participants also viewed positively the potential to these perceived personal and family benefits. use the dried blood spot specimens in some manner to identify a suspect in a crime and for many it was a case of Group (b) Medical research "if you have nothing to hide what would the problem be?" 3b Use in medical research was generally viewed support- . However in each group of men some concern was ively. It was widely agreed that parents should be expressed about the behaviour of the police and potential informed and consulted if identifying information would misuse of the dried blood spots. Those men who be provided to researchers requesting the dried blood spot expressed such concerns demonstrated a clear general lack specimens. The concept of research upon anonymised of trust in the police. While outlining the current agree- samples was clearly grasped and seeking parental consent ment in NSW between police and health authorities in such cases only viewed as important by a few. A couple appeared to be reassuring, there was still some continuing of individuals in different groups came up with the sug- concern expressed among several of the male participants. gestion that the samples could be permanently ano- Even if the blood spot sample was released initially for nymised at 18 years by simply cutting off the identifying apparently legitimate reasons these men suggested it information from the card and this could extend the life might later be used for other illicit purposes including of this apparently valuable research resource. such as by corrupt police officers to frame an individual. Unacceptable uses of the dried blood spot specimens for Scenario four raised the potential use of samples for pater- research commonly included human cloning and any nity testing and the involvement of the courts stimulated research that might lead to discrimination by insurers or some further discussion. The justice system was seen as employers. Some had strong views that access by pharma- the appropriate mechanism through which requests for ceutical and biotechnology companies should be resisted, access to the specimens in cases such as this should pro- views that were underpinned by a belief that health ceed. A common response was that if the court demanded research and developments should not be driven by a access to the dried blood spots for testing, little resistance profit principle. It was also argued that commercial com- could be made. panies might bias or manipulate research findings. Such suggestions prompted others to counter that advances in Page 5 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 (d) Retention of dried blood spot specimens, ownership and records access the stored dried blood spot if ever necessary. Such A common initial response to learning about the storage comments were in the context of the perceived direct per- of the dried blood spot specimens was to query how prac- sonal benefit from the storage. They questioned in such tical this was and the space requirements it raised. Ques- cases if it was possible for the specimens to be transferred tions were raised as to how securely access was controlled between states. and it was suggested that no system could ever be impen- etrable to abuse. A number of participants, mostly men, Discussion cited media coverage of the inappropriate use of personal Participants in this study had some vague initial under- information by police, other government agencies and standing of the procedures of NBS, yet they knew very lit- private companies which illustrated how public privacy tle about its specific purpose and implications. There concerns had increased in recent years. Privacy concerns would also seem to be a very low level of community such as identify theft, credit card fraud and problems with awareness that the dried blood spots are stored and internet security highlighted to them that storing the dried indeed many people do not seem to have previously con- blood spot specimens raised privacy and security issues. sidered what happens to other biological samples they Several male participants suggested unprompted that the have given in health settings. samples could be used to create a DNA database. While the concept of accessing the dried blood spots for The rationale for the 18 year storage period for the NSW other uses was new to the groups, all quickly understood dried blood spot specimens perplexed several partici- the issues and were able to participate in the discussions. pants. While several participants suggested that they be Despite the surprising discovery that these dried blood stored for longer, others suggested that the current cut off spot specimens were kept, there was no evident rush to was likely explained in some way by the child reaching demand they should be destroyed because they were una- maturity and therefore fresh consent might need to be ware of their existence. It appeared that this high level of sought. community trust and support for storage was under- pinned in part by a misconception that the specimens A common question posed was why the specimens were could commonly have direct future personal benefit to an not stored for longer if they had such value for further individual. It was evident that when participants were dis- medical research. Based on what they had heard and cussing testing as part of NBS, they were also often consid- learnt in the group discussions most were prepared to ering that the dried blood spots might be used for accept the existing position of 18 years. No participant additional tests at a later date in a child's development. In suggested that currently stored dried blood spot speci- reality examples of benefits for the family, where they mens should be destroyed prior to the current 18 year occur, are in enabling prenatal testing and for forensic retention period. identification. Generally ownership of the specimens was not claimed by The support for the use of the dried blood spot specimens participants although they did view that they had some in medical research may be reassuring. All participants rights over them and should have some say over how they grasped the distinctions between identified and ano- were used. A distinction was made by several participants nymised research and seemed satisfied with the rules and between the storage of the specimen itself and the records regulations as they were presented to them. This study containing the results derived from testing. They ques- found very high levels of trust in the medical profession tioned whether the electronic records were also destroyed and government regulation. There was very little ques- after 18 years. tioning of the mechanisms in place to oversee research upon samples and rather participants were accepting that In the reconvened groups moderators raised the fact that if an ethics committee is in place it can be trusted to act in there were different storage retention policies in different the public good. There was little evidence of the mistrust Australian states. The variation was surprising and unset- and cynicism with scientists and institutions that has been tling for many participants. They had expected that the described in some European Countries [16]. NBS policies and issues they were discussing would be similar across Australia. The fact that the retention periods Support amongst participants for use of dried blood spot differed so significantly led them to question if there was specimens in identifying missing persons was particularly further information available which might provide a strong. Linked to this view were the concerns raised by rational explanation. young people whose specimens had recently been destroyed about the loss of utility for them in this context. Concerns were also expressed if an individual relocated to There was some support in this study for the use of dried another Australian state it may be difficult for them to blood spot specimens by police to identify suspects in Page 6 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 criminal cases. Findings from international public surveys ties in engaging consumers and assessing their views. [17] also suggest that many members of the public, at When asked in the survey, almost one in three mothers least in the UK, would express support for this use. While supported the current two year retention for dried blood this general support for access to the cards by the police spot specimens. However these mothers also noted that indicates that many may view this positively, it was also they did not possess adequate knowledge of the issues to very clear that there were a number of participants consider any alternative options for retention policies and strongly objected to access by such third parties. Trust, or therefore supported the status quo as presented to them. It lack thereof, seemed to underpin these views as well as the is in situations such as this that there is significant value experiences of some of the participants, particularly men, in a more deliberative approach to exploring valid com- in the use of electronic data. Concerns were also expressed munity views. In contrast to the Western Australian study, about the privacy and security of the samples, the possibil- we did not discern broad concern for the extended storage ity of identity fraud as well as inappropriate use of data of the dried blood spots. This significant difference may and forensic samples by the police. reflect the background and experience of the participants as well as the more deliberative consideration of the issues Whilst many in the community may have high levels of enabled by the methodologies used in our study. The trust this is likely to be impacted by critical media cover- findings from the study presented here provide a basis for age of a NBS program. In this context it is noteworthy that, further research exploring any differences in perspectives to date, there has been little media coverage, of any form, of the wider Australian community. related to NBS in NSW. A search, using an online cata- logue, for recent media articles about NBS revealed almost All methodologies which attempt to explore and consider nothing in NSW yet several stories raising concerns about public attitudes and opinion have their own limitations. the dried blood spot specimens were found from other Whilst the qualitative approach used here was designed to Australian states and also from New Zealand [18,19]. capture a range of different perspectives it does not claim Some health professionals in other Australian states have to present a representative picture of the population's suggested that the concerned media and "conspiracy the- views. This study included few people from culturally orists" should be reassured by the strict controls that diverse backgrounds or other groups whose views may be already exist to protect information [20]. However it is quite different from those reported. It is worth noting that also clear that it is better to consider and address at the several studies in other countries suggest that those from outset issues which are likely to be sensitive or have the certain ethnic minority backgrounds are much more likely potential to raise controversy in the community. Once to have concerns with the storage of biological samples, lost public trust can be very difficult to rebuild and in part access to genetic databases by third parties and lower level it needs to be maintained by listening to public concerns of trust in health providers [17,22]. We would expect seriously, even if they appear at first irrational, and by there to be some further sensitivities towards NBS pro- considering what underlies them [16]. grams amongst these and other vulnerable groups. The qualitative approach used here presents opportunities Furthermore in this study discussions about NBS and for extended discussion, consideration of information associated issues of storage and further use were framed in and further deliberation over a few days. It therefore sup- the context of health, testing and screening generally. NBS ports a deeper exploration and understanding of commu- was presented to participants in a medical context which nity views than some other methodologies. It is evident initially highlighted its direct application in detecting rare from our findings that a quantitative approach, such as and treatable conditions. It was on this canvas that further implementing a survey, would be of limited initial value discussion was initiated. Many participants seemed to in engaging these stakeholder groups in policy issues. find it difficult to move beyond the immediate perceived Whilst many people would probably give a response to a personal benefits NBS testing and dried blood spot speci- survey question, if they do not understand the question men storage could offer them. and the background, some responses may simply be 'non- opinions'. Genuine community consultation is essential to support attempts to develop national policy standards especially Public opinion polls and surveys do have a role in inform- in areas which are currently of greatest divergence, notably ing health policy development in this area. A recent mail the retention and further use of dried blood spot speci- survey of mothers from Western Australia generally con- mens. It will require an understanding of community per- firms the picture we have found in that many parents do spectives and their involvement in building a model not feel well informed about NBS and storage of the dried which has widespread support. It will also likely require blood spot specimens [21]. Nevertheless the survey find- some further development and testing of appropriate ings also highlighted some of the methodological difficul- public involvement methodologies. Page 7 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 perspectives as consumers of genetics services. Those we Policy implications and conclusion This deliberative and consultative process has provided spoke to embraced the sometimes challenging and com- rich data to inform the development of state and national plex issues, considered these carefully and were willing to policies in NBS. It especially provides a deeper insight into share and listen to views of others. They were also willing community views of the retention and storage of dried to problem solve and make positive suggestions as to how blood spot cards. The findings suggest that, with the pro- policies and practices could be further developed. This vision of information and opportunities for deliberation, bodes well for a more inclusive strategy in the develop- many members of the wider community are likely to sup- ment of public policies in the developing field of genetic port the extended storage of dried blood spot specimens heath. and their use in medical research. Acknowledgements We are indebted to the members of the NSW community who participated The printed materials offered to parents in NSW [8] are in this research. notable in that they explicitly outline that the blood spot cards are stored and how they may be accessed and used We would also like to thank the members of the project's Expert Advisory in the future. However it would seem that many parents Group who kindly gave their time, comments and enthusiasm. fail to absorb or are aware of this information. In line with the findings of this study NSW Health NBS policy has References recently been updated and now includes further advice for 1. Guthrie R, Susi A: A simple phenylalanine method for detect- ing phenylketonuria in large populations of newborn infants. health professionals to effectively communicate to par- Paediatrics 1963, 32:338-343. ents that the blood spots cards are stored [7]. 2. Wilcken B: Does every baby get a newborn screening test? Medical Journal of Australia 2003, 179:400-401. 3. Crossley JR, Elliott RB, Smith PA: Dried-blood spot screening for There is additional evidence that community awareness of cystic fibrosis in the newborn. Lancet 1979, 1(8114):472-474. NBS may also be limited in other Australian states [23]. 4. Wilcken B, Wiley V, Hammond J, Carpenter K: Screening new- Researchers conducting a community study commis- borns for inborn errors of metabolism by tandem mass spec- trometry. New England Journal of Medicine 3 48(23):2304-12. 2003 sioned by the Victorian Government [24] have suggested Jun 5 that parents are not given enough information about new- 5. Centre for Epidemiology and Research: NSW Department of Health. New South Wales. Mothers and Babies 2004. NSW born screening and that there is a general lack of under- Public HealthBull 2005, 16(S-4):. standing about storage procedures [25]. This research has 6. International Society for Neonatal Screening, Standing Committee on informed the development of a policy review which rec- Quality Assurance: Lexicon of terms to be used in newborn screening ommends to the Victorian Minister for Health an 7. NSW Department of Health. New South Wales: Newborn Bloodspot improved community education program and that Screening Policy, Policy Directive PD2006_099 2006. 8. NSW Department of Health. New South Wales: Tests to Protect Your extended storage of the blood spot cards should include Baby 2004. explicit written consent from parents [26]. 9. Australian Law Reform Commission: Essentially Yours: The Protection of Human Genetic Information in Australia, ALRC 96. Canberra 2003. 10. Australian Government. Attorney General's Department: Australian These policy issues potentially have national as well as Law Reform Commission and Australian Health Ethics Committee Report state relevance. The consternation expressed amongst Essentially Yours The Protection of Human Genetic Information in Australia. those we spoke to regarding differences in policies for NBS Government Response to Recommendations. Canberra 2005. 11. National Health and Medical Research Council: National Statement on across Australia supports the current deliberations of the Ethical Conduct in Research Involving Humans. Canberra 1999. Australian Health Ministers' Advisory Committee where a 12. NSW Department of Health. New South Wales: Memorandum of Understanding between The New South Wales Commissioner of Police and subgroup has been asked by the Commonwealth Govern- Director General of the New South Wales Department of Health 2002. ment to consider the development of national NBS stand- 13. The Wellcome Trust: Public Perceptions of Human Cloning. A Social ards [10]. In our study the different State NBS policies Research Study. London (UK); ISBN 186983500X 1998. 14. Swallow V: Research Brief. How to manage and display quali- regarding storage of dried blood spot cards were identified tative data using 'Framework' and Microsoft Excel. Journal of as a matter of concern that required rationalization. One Clinical Nursing 2003, 12:610-612. 15. King D: DNA Test For Schoolgirl Who Could Be Baby Tegan. aspect participants highlighted was that family members, The Australian . 2005 June 13. often dispersed geographically, should have equitable 16. House of Lords Select Committee on Science and Technology: Third access to the perceived benefits in storing the dried blood Report, Science and Society. UK 2000. 17. Human Genetics Commission: Public Attitudes To Human Genetic Infor- spots. mation. People's Panel Quantitative Study. UK 2001. 18. Macleod S: Third parties increasingly access material from This study demonstrates that members of the wider com- blood bank DNA. New Zealand Herald. Auckland (NZ) . 2003 November 26. munity are clearly able to engage and consider some of 19. Giles T, Kelly J: Baby DNA confusion. Parents unaware of gene complex issues and grasp some of the key scientific, social bank. Herald-Sun. Melbourne . 2005 February 7. 20. Skene L, Bankier A: Retention of Guthrie Cards: Reassuring and ethical issues raised by developments in genetic Parents. Medicine Today 2004, 5:68-71. health. These participants were not specialists in health, 21. Davey D, French D, Dawkins H, O'Leary D: New mothers' aware- policy or ethics yet they were able to contribute unique ness of newborn screening, and their attitudes to the reten- Page 8 of 9 (page number not for citation purposes) Australia and New Zealand Health Policy 2006, 3:14 http://www.anzhealthpolicy.com/content/3/1/14 tion and use of screening samples for research purposes. Genomics, Society and Policy 2005, 1(3):41-51. 22. The Wellcome Trust, Medical Research Council: Public Perceptions of the Collection of Human Biological Samples. Qualitative research to explore public perceptions of human biological samples. UK 2002. 23. Suriadi C, Jovanovska M, Quinlivan JA: Factors affecting mothers' knowledge of genetic screening. Australian and New Zealand Jour- nal of Obstetrics and Gynaecology 2004, 44(1):30-34. 24. State Government Victoria, DOHR: Request for Quotation. Report into Informed Parental Consent for Newborn Screening in Victoria 2005. 25. Health Issues Centre: Response to the Australian Health Ministers' Advi- sory Council (AHMAC) Advisory Group's Consultation Document (Principles and Guidelines for Newborn Screening – a uniform approach to newborn screening based on bloodspots for Australia) . 2005 November 11. 26. Victorian Government Department of Human Services: Victorian New- born Screening Review Committee. 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Australia and New Zealand Health Policy – Springer Journals

Published: Dec 13, 2006

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