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PubMed2004

Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs.

In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF). This report describes new research findings and outlines the recommendations of the workshop. The peer-reviewed evidence presented at the workshop supports the clinical utility of newborn screening for CF. Demonstrated long-term benefits from early nutritional treatment as a result of newborn screening for CF include improved growth and, in one study, cognitive development. Other benefits might include reduced hospitalizations and improved survival. Mixed evidence has been reported for pulmonary outcomes. Newborn screening in the United States is associated with diagnosis of CF a median of 1 year earlier than symptomatic detection, which might reduce the expense and anxiety associated with workup for failure to thrive or other symptoms. Certain psychosocial risks for carrier children and their families (e.g., anxiety and misunderstanding) are associated with newborn screening. Exposure of young children to infectious agents through person-to-person transmission in clinical settings, although not an inherent risk of newborn screening, is a potential cause of harm from early detection. Involving specialists in CF care and infection control, genetic counseling, and communication can minimize these potential harms. Although screening decisions depend on a state's individual resources and priorities, on the basis of evidence of moderate benefits and low risk of harm, CDC believes that newborn screening for CF is justified. States should consider the magnitude of benefits and costs and the need to minimize risks through careful planning and implementation, including ongoing collection and evaluation of outcome data.

Algorithms↗

PubMed2001

Cystic fibrosis-related deaths in infancy and the effect of newborn screening.

Although newborn screening for cystic fibrosis (CF) is widely advocated, hard evidence in its favor is difficult to obtain, partly because of a dramatically improved life expectancy. Between 1985--1989 infants, born in Wales and the West Midlands were randomized to newborn CF screening by heel-prick immunoreactive trypsin (IRT) measurement or diagnosis by clinical presentation. Eligible children with CF who died in the first 5 years of life were identified from the local pediatricians and from the National UK CF Survey. In all, 230,076 infants were randomized to be screened, while 234,510 were unscreened. One hundred seventy-six CF children were identified, of whom 7 died in the first 5 years of life, 3 having presented with meconium ileus. Median age of diagnosis in the screened group was 8 weeks. On an intention to treat analysis, all 4 nonmeconium ileus-related deaths occurred in the unscreened group (Fisher's exact test, P < 0.05). However, the clinical presentation of 2 of these infants led to them being diagnosed prior to 8 weeks, i.e., earlier than would have been likely by screening. In conclusion, newborn screening has the potential to decrease infant CF deaths, but if it is to be successful, identification and treatment must occur as soon as possible after birth.

Cystic Fibrosis↗

PubMed2004

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

OBJECTIVES: Newborn screening for cystic fibrosis (CF) provides a model to investigate the implications of applying multiple-mutation DNA testing in screening for any disorder in a pediatric population-based setting, where detection of affected infants is desired and identification of unaffected carriers is not. Widely applied 2-tiered CF newborn screening strategies first test for elevated immunoreactive trypsinogen (IRT) with subsequent analysis for a single CFTR mutation (DeltaF508), systematically missing CF-affected infants with any of the >1000 less common or population-specific mutations. Comparison of CF newborn screening algorithms that incorporate single- and multiple-mutation testing may offer insights into strategies that maximize the public health value of screening for CF and other genetic disorders. The objective of this study was to evaluate technical feasibility and practical implications of 2-tiered CF newborn screening that uses testing for multiple mutations (multiple-CFTR-mutation testing). METHODS: We implemented statewide CF newborn screening using a 2-tiered algorithm: all specimens were assayed for IRT; those with elevated IRT then had multiple-CFTR-mutation testing. Infants who screened positive by detection of 1 or 2 mutations or extremely elevated IRT (>99.8%; failsafe protocol) were then referred for definitive diagnosis by sweat testing. We compared the number of sweat-test referrals using single- with multiple-CFTR-mutation testing. Initial physician assessments and diagnostic outcomes of these screened-positive infants and any affected infants missed by the screen were analyzed. We evaluated compliance with our screening and follow-up protocols. All Massachusetts delivery units, the Newborn Screening Program, pediatric health care providers who evaluate and refer screened-positive infants, and the 5 Massachusetts CF Centers and their affiliated genetic services participated. A 4-year cohort of 323 506 infants who were born in Massachusetts between February 1, 1999, and February 1, 2003, and screened for CF at approximately 2 days of age was studied. RESULTS: A total of 110 of 112 CF-affected infants screened (negative predictive value: 99.99%) were detected with IRT/multiple-CFTR-mutation screening; 2 false-negative screens did not show elevated IRT. A total of 107 (97%) of the 110 had 1 or 2 mutations detected by the multiple- CFTR-mutation screen, and 3 had positive screens on the basis of the failsafe protocol. In contrast, had we used single-mutation testing, only 96 (87%) of the 110 would have had 1 or 2 mutations detectable by single-mutation screen, 8 would have had positive screens on the basis of the failsafe protocol, and an additional 6 infants would have had false-negative screens. Among 110 CF-affected screened-positive infants, a likely "genetic diagnosis" was made by the multiple-CFTR-mutation screen in 82 (75%) versus 55 (50%) with DeltaF508 alone. Increased sensitivity from multiple-CFTR-mutation testing yielded 274 (26%) more referrals for sweat testing and carrier identifications than testing with DeltaF508 alone. CONCLUSIONS: Use of multiple-CFTR-mutation testing improved sensitivity and postscreening prediction of CF at the cost of increased referrals and carrier identification.

Algorithms↗

PubMed2003

Evaluating outcomes of newborn screening programs.

Newborn screening is a medical intervention. For every program, there should be evidence of its effect and effectiveness. The four questions to be addressed, very broadly, are: What is the effectiveness for case-finding (sensitivity, specificity, and positive predictive value)? What are the benefits of early detection versus clinical detection? What harm results from the program? Are the costs reasonably balanced in relation to benefits? Ideally, there would be randomized controlled trials (RCTs) of screening for each disorder. In practice, power calculations reveal that for very rare disorders this is not feasible. The numbers of screened and unscreened babies required would be huge, and trials would last for decades. There have only been RCTs of newborn screening for cystic fibrosis (birth prevalence 25-40 per 100,000 in Caucasians). No such trials were ever attempted for hypothyroidism, with a similar birth prevalence, and it may not now be ethical to mount one. Instead, lower orders of evidence must be used. Double-blind randomized controlled trials should be planned for not-so-rare disorders where possible. Where it is not feasible, careful planning and collection of data, plus the use of both historical controls and contemporaneous controls from other regions may have to suffice. To introduce programs with no plans for full evaluation is not best practice. Evaluation of outcomes of all kinds, not simply of case-finding, must be mandatory. Data for case-finding should be collected actively, with systematic searching for missed cases. Data about benefits need to be collected in well-planned long-term studies, although short-term benefits are also valuable. Good studies of harm, mainly from false positive results, are urgently needed. The problem of costs and benefits is difficult, and a "reasonable balance" rather than positive cost/benefit ratio seems desirable.

Cost-Benefit Analysis↗

PubMed2006

Current status of newborn screening: decision-making about the conditions to include in screening programs.

Newborn screening is considered a highly successful public health program that has resulted in the reduction of mortality, mental retardation, and other serious disabilities in thousands of children since the introduction of screening for phenylketonuria (PKU) in the 1960s. Programs are based in state public health departments such that each state independently reaches decisions as to which conditions should be mandated for inclusion in programs, leading to considerable variability among the states as to what is being screened. New technologies and knowledge of the genetics of many conditions have greatly expanded the number of conditions with potential for inclusion in newborn screening.

Decision Making, Organizational↗

PubMed1997

Failure to screen newborns for inborn disorders: a potential consequence of changes in newborn care.

OBJECTIVES: To determine how changes in the structure of the hospital care of infants, such as shortened post-natal stays, affect the completeness of newborn screening. DESIGN: Cohort. SETTING: Two large maternity hospitals. PARTICIPANTS: 8751 consecutive births at the study hospitals during 1993. MAIN OUTCOME MEASURE: The completeness of initial specimen collection and processing as determined by matching of birth and screening records. RESULTS: At least one specimen was received by the screening program for 8675 (99.1%) of the births. Most non-screened patients (71/76, 93%) had been admitted to the neonatal intensive care unit (NICU). Of these, 53/71 (75%) were low birth weight infants who died within 48 h of birth. Even after excluding these non-survivors, NICU patients were 37 times more likely to be unscreened than their healthy counterparts (22 vs. 0.6 per 1000 infants, 95% C.I. 12.8, 92.8 P < 0.01). A common characteristic of non-screened NICU survivors, (12/18) was interhospital transfer for sub-specialty care. Among patients in the healthy-baby nursery, early discharge (i.e. < 24 h of age) accounted for 2/5 (40%) of the cases of non-screening. The non-screening rate among patients discharged early was 25 times higher than for those discharged after 24 h (9.8 vs. 0.4 per 1000 infants, 95% C.I. 4.2, 149 P < 0.01). CONCLUSIONS: Although the overall rate of screening was high, NICU patients, especially those requiring transfer, are disproportionately at risk for non-screening. Early discharge of healthy newborns was also significantly associated with non-screening. This latter finding is of special importance given the current trend toward shorter hospital stays for newborns. Increased attention to ensuring the collection of specimens from these two high-risk populations is warranted.

Cohort Studies↗

PubMed2002

Cost-benefit analysis of universal tandem mass spectrometry for newborn screening.

OBJECTIVE: To estimate potential costs and benefits of routinely using tandem mass spectrometry (MS/MS) to screen newborns for inborn errors of metabolism. METHOD: Analysis of costs and benefits resulting from use of MS/MS in screening of 32 000 newborn infants using data from the Kaiser Permanente Medical Care Program of Northern California plus other published data. SETTING: A large health maintenance organization. RESULTS: In the base scenario, the cost per quality-adjusted life year saved by MS/MS screening was $5827; in the least favorable scenario, this cost was $11 419, and in the most favorable scenario, $736. CONCLUSION: Costs per quality-adjusted life year saved by MS/MS screening for inborn errors of metabolism compare favorably with other mass screening programs, including those for breast and prostate cancer.

Adult↗

PubMed2002

Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.

Newborn screening for galactosemia yields a high number of false-positive results. Confirmatory DNA testing for unknown galactosemia mutations on the initial positive sample using novel techniques of mutation detection tenders itself to reduce the recall rate. The potential benefits of confirmatory DNA testing, however, could be offset by the detection of a high percentage of galactosemia carriers, Duarte/galactosemia compound heterozygotes, and infants with benign sequence changes in the galactose-1-phosphate uridyltransferase (GALT) gene among infants with a positive biochemical screening test. Our aim was to determine the frequency and allelic distribution of all sequence changes in the GALT gene in 110 newborns with a positive total galactose screening test among 43,688 Austrian newborns screened consecutively. We found that only 20 of the 110 probands carried at least one known or novel candidate galactosemia mutation (one galactosemia homozygote, 7 Duarte/galactosemia compounds, 12 carriers) as judged by denaturing gradient gel electrophoresis and cleavage fragment length polymorphism analysis. Four novel galactosemia candidate mutations (Q9H, A46fsdelCAGCT, M129T, L342I) were identified. Sixty-seven probands had no detectable sequence changes and 23 carried only the benign Duarte or Los Angeles variant alleles or silent mutations. We conclude that a rapid and automatable confirmation test for unknown GALT mutations, e.g. on a high-density oligonucleotide array basis, has the potential to lower the recall rate of galactosemia screening in our population by about five-fold from 0.25 to 0.046%. Further research, however, will be required before the development of such a test can be advocated.

Austria↗

PubMed1990

Newborn screening for sickle cell disease. When is an infant 'lost to follow-up'?

Success of programs to screen newborns for sickle cell disease depends on timely follow-up. Education regarding fever and splenic palpation, and initiation of prophylactic penicillin therapy, will reduce morbidity and mortality and should occur prior to 4 months of age. However, contacting parents to permit implementation of care may be difficult, particularly in large urban populations; only nine (36%) of 25 infants recently identified as having sickle cell disease arrived at our institution for initial appointments. Medical providers must be aware of medical and legal obligations related to follow-up of newborns with sickle cell disease to prevent untoward events in "missed cases."

Follow-Up Studies↗

PubMed1997

Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity.

To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal screening in an area with high allelic heterogeneity, we designed a special protocol. Spot trypsin estimation at birth, trypsin re-testing after 1 month, meconium lactase testing and mutation analysis of delta F508, R1162X and N1303K, were retrospectively clustered according to different patterns (trypsin/lactase/mutation; trypsin/lactase/re-testing; trypsin/mutation) and compared. The programme, which lasted 2 years (1993-94) and covered most of North-eastern Italy, included 95,553 screened newborns. Thirty-four affected babies were detected by screening and one by meconium ileus (incidence 1/2730). The combined use of trypsin, lactase and mutation analysis in cystic fibrosis neonatal screening permits a better sensitivity compared to the two other combinations (34 diagnoses vs 32 in both cases). Moreover, the higher specificity of the former method (false positives 42 vs 148) allows a reduction of recalls, which cause considerable anxiety. We confirm in trypsin-positive newborns an increased frequency of cystic fibrosis heterozygotes (1/17).

Clinical Protocols↗

PubMed2006

Newborn screening fact sheets.

Newborn screening fact sheets were last revised in 1996 by the American Academy of Pediatrics Committee on Genetics. This revision was prompted by advances in the field since 1996, including technologic innovations, as well as greater appreciation of ethical issues such as those surrounding informed consent. The following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia. A series of topics related to newborn screening is discussed in a companion publication to this electronic publication of the fact sheets (available at: www.pediatrics.org/cgi/content/full/118/3/1304). These topics are newborn screening as a public health system; factors contributing to the need for review of the newborn screening system; informed consent; tandem mass spectrometry; DNA analysis in newborn screening; status of newborn screening in the United States; and the effect of sample timing, preterm birth, diet, transfusion, and total parenteral nutrition on newborn screening results.

Blood Transfusion↗

PubMed2006

National evaluation of US newborn screening system components.

Newborn screening has existed as a state-based public health service since the early 1960s. Every state and most territorial jurisdictions have comprehensive newborn screening programs in place, but in the United States a national newborn screening policy does not exist. This results in different administrative infrastructures, screening requirements, laboratory and follow-up services, medical management approaches, and related activities across the country. Federal initiatives and support have contributed to limited evaluations of various aspects of individual newborn screening programs at the national level, but funding is an issue. The national evaluation strategies have taken various forms, all with the intent of improving the screening system through review of actions taken and suggestions for future improvements. While participation in the national evaluation effort for newborn screening laboratory practices includes all US programs, and this has aided in improving quality and harmonizing protocols, other national evaluation activities have been only moderately successful. National data reporting of quality indicators for various program elements must be comprehensive and timely, and the elements must be universally accepted in order to meet the evaluation and improvement needs of the national newborn screening system. A comprehensive real time national evaluation activity will likely require additional resources and enforcement incentives. Limited federal actions through grant incentives and selected reporting requirements provide a possible means of stimulating programs to participate in national harmonization efforts.

Costs and Cost Analysis↗

PubMed1996

Newborn screening for sickle cell disease: 4 years of experience from California's newborn screening program.

PURPOSE: In this article we describe the success of a unique newborn screening program for sickle cell disease and other hemoglobinopathies. We will present and discuss 4 years of experience from the California Newborn Hemoglobinopathy Screening Program. METHODS: Several aspects that ensure the success of the program will be reviewed. These aspects include (a) the use of high-pressure liquid chromatography as the initial screening technique, (b) a confirmatory testing laboratory that incorporates DNA technology and innovative protein analysis using electrospray mass spectrometry, and (c) a complex follow-up strategy that employs regional nurses to track positive results and ensure timely enrollment of infants into treatment systems. RESULTS: Of these 2 million infants screened, 492 were diagnosed with some form of sickle cell disease; 290 (58.9%) were diagnosed with hemoglobin SS, 143 (29.0%) were diagnosed with hemoglobin SC, and 47 (9.5%) were diagnosed with S beta+thalassemia. CONCLUSION: The prevalence and ethnicity data presented here demonstrate the ineffectiveness of targeted screening and justify universal screening. Had targeted screening been performed in California during the past 4 years, 58 nonblack infants with sickle cell disease would have gone undiagnosed, and 6,921 nonblack infants with sickle cell trait would not have been identified.

Anemia, Sickle Cell↗

PubMed2002

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.

In galactokinase (GALK) deficiency, galactose cannot be phosphorylated into galactose-1-phosphate, which leads to cataract formation. Neonatal screening for hypergalactosemia in Berlin has been performed by thin-layer chromatography since 1978, which detects classical galactosemia and GALK deficiency. Until 1991, GALK deficiency has not been identified in a total of approximately 260,000 samples. In contrast, from 1992 to 1999, nine patients were detected in a total of approximately 240,000 screened newborns. One Turkish patient was homozygous for two novel S142I/G148C GALK mutations in close proximity to the putative ATP-binding site of the enzyme. The other eight children were born to five families belonging to the Bosnian refugee population consisting of approximately 30,000 individuals who have arrived in Berlin since 1991. In two of these families, GALK deficiency was subsequently diagnosed in siblings who had cataract surgery at 4 and 5 y of age, respectively. In all these 10 Bosnian patients, a homozygous P28T mutation located near the active center of the enzyme was identified. We propose that neonatal screening of populations with a significant proportion of Bosnians and possibly other southeastern Europeans, e.g. Romani, should be particularly directed toward GALK deficiency, an inborn error of metabolism that is readily amenable to effective treatment.

Adenosine Triphosphate↗

PubMed2001

Survey of pediatrician practices in retrieving statewide authorized newborn screening results.

OBJECTIVE: Mandated state newborn screening programs for the approximately 4 million infants born each year in the United States involves the following 5 components: 1) initial screening, 2) immediate follow-up testing of the screen-positive newborn, 3) diagnosis confirmation (true positive versus false positive), 4) immediate and long-term care, and 5) evaluation of all of the components of the system, including process and outcomes measures. Smooth functioning of this system requires pretest education of the parents as well as education and involvement of all health care providers who interact with the newborn screening system. Although extensive literature is available concerning public health aspects, technical standards/protocols, and discussion of the interfaces among the 5 components of the system, little information is available regarding physician awareness, involvement, and interactions with the system. The objective of this study was to determine, through a survey, primary care pediatricians' satisfaction with their state's newborn screening program. This was reflected in survey questions that asked how pediatricians were notified of the results of newborn screening tests that were performed on infants in their practice. METHODS: Two thousand questionnaires were sent to primary care pediatricians in all 50 states and the District of Columbia regarding their practices in retrieving statewide newborn screening results. Of the 2000 surveys, 574 (29%) responses from primary care pediatricians who care for at least 1 to 5 newborns each week form the basis of this report. Also reported are the commentaries of the physicians concerning their specific practices, overall assessment of the system, and ideas for improvement. RESULTS: Physicians reported their general satisfaction with the newborn screening system's ability to retrieve screen-positive infants for follow-up testing. However, communication and partnership with the primary care pediatrician regarding accessibility and timely retrieval of newborn screening test results was deemed less than optimal. Thirty-one percent of respondents indicated that notification for screen-positive test results was greater than 10 days, whereas 26% indicated that they do not receive the results of screen-negative tests and need to develop office procedures (contact birth hospital or state laboratory) to obtain results. Twenty-eight percent indicated that they do not actively seek results of newborn screening for their patients and presume that "no news is good news." Barriers to retrieving test results included that infants were born at hospitals where the physician does not have privileges, there were new transfers to the practice, infants were born in other states, personnel time was needed to track results, and there was a lack of a cohesive communication/reporting system that includes the primary care physician as an integral partner in the newborn screening communication process. Ninety-two percent of physicians would welcome an enhanced state system with direct communication to the primary care pediatrician as well as the birth hospital. CONCLUSION: Pediatricians recognize and endorse the benefits of newborn screening and believe that they play an important role in the efficient functioning of the system. An enhanced physician partnership with the newborn screening program will enable the timely follow-up of the screen-positive newborn for confirmatory testing. All test results need to be communicated to the pediatrician in a timely and efficient manner: 7 days for screen-positive results and 10 to 14 days for all results. Newborn screening test results of new patients who enter the practice should be available at the time of the first well-infant visit, ideally by 2 weeks of age. The majority of primary care pediatricians acknowledge the need to establish office protocols for the retrieval of newborn screening test results and would welcome an enhanced direct communication system with the state newborn screening program.

Attitude of Health Personnel↗

PubMed2001

Genetic counseling and risk communication services of newborn screening programs.

OBJECTIVES: Newborn screening test results labeled "positive" can have uncertain implications for parents, especially when false-positive results occur or when heterozygous infants are detected using molecular tests for sickle cell hemoglobinopathy or cystic fibrosis. This study surveyed communication services across state newborn screening programs. METHODS: We surveyed newborn screening programs to identify current communication practices and the methods used for quality assessment. Two successive survey instruments with fixed-answer and free-answer questions were distributed to screening program follow-up coordinators or similar designated officials associated with 52 states and territories. RESULTS: Replies from 46 respondents (89% response rate) revealed that regional newborn screening programs vary widely in their approaches to counseling. Of the 46 respondents, 35 (76%) answered that they "routinely" provide counseling services to families of affected infants. Depending on the disease, an average of approximately one-half that number provide counseling after false-positive results or for heterozygous infants. Most respondents advocate nondirective counseling more than direct advice. Most programs reported that counseling was usually done by subspecialist physicians or specially trained nurses and counselors. Respondents reported a perception that the "quality" of counseling by these professionals is better than counseling by primary care physicians. Few programs reported systems for assessing quality assurance of counseling. CONCLUSIONS: Newborn screening programs in the United States vary widely with regard to counseling practices, and no best practices are currently evident. Few programs provide counseling quality assurance. Further study and advocacy is needed to optimize communication services, preferably before implementation of molecular tests arising as a result of the Human Genome Project.

Communication↗

PubMed2006

Introduction to the newborn screening fact sheets.

Newborn screening fact sheets were last revised in 1996 by the Committee on Genetics of the American Academy of Pediatrics. These fact sheets have been revised again because of advances in the field, including technologic innovations such as tandem mass spectrometry, as well as greater appreciation of ethical issues such as informed consent. The fact sheets provide information to assist pediatricians and other professionals who care for children in performing their essential role within the newborn screening public health system. The newborn screening system consists of 5 parts: (1) newborn testing; (2) follow-up of abnormal screening results to facilitate timely diagnostic testing and management; (3) diagnostic testing; (4) disease management, which requires coordination with the medical home and genetic counseling; and (5) continuous evaluation and improvement of the newborn screening system. The following disorders are reviewed in the newborn screening fact sheets (which are available at www.pediatrics.org/cgi/content/full/118/3/e934): biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia,homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies,and tyrosinemia.

DNA↗

PubMed2006

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.

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.

Journal Article↗