Newborn Screening Policy and Practice Issues for Nurses

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Newborn Screening Policy and Practice Issues for Nurses Audrey Tluczek and Jane M. De Luca

ABSTRACT Advanced biomedical and genetic technologies are transforming newborn screening (NBS) programs. Nurses who work with families across perinatal care settings require knowledge of the policies that guide NBS practices and the controversies posed by the rapid application of genetic research to NBS. We provide an overview of NBS, outline challenges generated by expansion of NBS programs, and discuss implications for the nurses, nurse practitioners, and midwives in clinical practice, education, and research.

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Accepted March 2013

Keywords neonatal screening genetic testing Correspondence Audrey Tluczek, PhD, RN, University of Wisconsin-Madison, School of Nursing, 600 Highland Ave, K6/346, Madison, WI 53792. [email protected] The authors and planners for this activity report no conflict of interest or relevant financial relationships. The article includes no discussion of off-label drug or device use. No commercial support was received for this educational activity. Audrey Tluczek, PhD, RN, is an associate professor in the School of Nursing, University of Wisconsin-Madison, Madison, WI. Jane M. De Luca, PhD, RN, is an assistant professor in the School of Nursing, Clemson University, Clemson, SC and in the School of Nursing, University of Rochester, Rochester, NY.

ewborn screening (NBS) is used to identify infants with conditions that are amenable to early treatment (Newborn Screening Task Force, 2000). Capillary blood specimens for NBS are obtained from infants via heel stick shortly after birth (within the first 24–48 hours). Specimens are applied to special filter paper, dried, and sent to designated screening laboratories for analysis. Techniques used to analyze specimens depend on the specified disorder. For example, NBS for phenylketonuria (PKU) involves measuring blood levels of the amino acid, phenylalanine, but it does not screen for the genes responsible for this genetic condition. By contrast, most NBS programs for cystic fibrosis (CF) measure blood levels of trypsinogen, precursor for the pancreatic enzyme trypsin. If levels are abnormally high, DNA testing is usually performed as part of the NBS procedure to search for symptom-causing mutations in the CF gene. The NBS blood tests are performed in laboratories. Tests for infant hearing and for congenital heart defects using pulse oximetry are usually conducted while the infant is in the birthing facility (National Newborn Screening and Genetics Resource Center [NNSGRC], 2012). Given the genetic nature of most screened conditions and use of genetic technologies for some, nurses involved in any aspect of NBS are, in fact, engaging in genetic/genomic health care.

N

Newborn screening is use to identify infants who might have particular conditions. Positive results require additional diagnostic evaluation to either rule out or confirm the presence of the condi-

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tion. Four million infants per year undergo NBS in the United States, and the vast majority have normal NBS results and require no additional testing. More than 12,000 screened infants are diagnosed each year with serious health conditions. The five most commonly diagnosed conditions include hearing loss, congenital hypothyroidism, CF, sickle cell disease, and medium-chain acylCoA dehydrogenase deficiency (MCADD) (Centers for Disease Control and Prevention [CDC], 2012). Procedures for notifying parents vary by state (CDC). Typically, the NBS laboratory personnel inform primary care providers of positive and negative NBS results, and these providers inform parents. Many NBS programs also have clinical consultants to assist primary care providers regarding repeat NBS tests and confirmatory diagnostic tests.

Terminology As illustrated in Table 1, positive (abnormal) NBS results that are confirmed by additional diagnostic testing are called true positive NBS results. If NBS results are positive and diagnostic tests are normal, the NBS result are considered false positive. If NBS results are negative (normal) and the infant truly does not have the condition, NBS results are called true negative; whereas infants with negative NBS results who are later found to have the condition are said to have false negative NBS results. The sensitivity refers to the effectiveness of a test in detecting all infants with the conditions screened (Anderson, Rothwell, & Botkin, 2011).

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Specificity means the test’s capacity to distinguish infants that have the conditions from those who do not (Anderson et al.). Positive predictive value is the percent of all positive screens that are true positive NBS results (Anderson et al.). The higher the sensitivity and specificity, the greater the chance of identifying infants with the condition; this situation also produces higher false positive rates. Lower sensitivity and specificity reduces the number of false positive results, but more infants with the condition are likely to be missed. Thus, screening programs are designed to maximize the sensitivity, specificity, and positive predictive values by setting cutoff levels for positive versus negative results that strive to optimize the percent of true positive NBS results while minimizing false positive results. As the number of conditions on panels increase, rates of false positive to true positive results also increase (Tarini, Christakis, & Welch, 2006). Most infants with abnormal NBS results will be found to not have the condition. The rate of false negatives is difficult to determine because individuals can go undiagnosed for years. When DNA testing is performed as part of NBS or diagnostic testing, for example, CF or MCADD disease, infants can be identified as carriers of one abnormal allele, called a mutation. These infants are not expected to develop symptoms of the conditions. However, reproductive implications are present for their parents, siblings and other relatives, as well as the infant later in life. For some infants, genetic variants or biochemical abnormalities of unknown significance can also be identified. These infants may undergo additional testing to secure a diagnosis and are usually monitored over the long-term for the development of symptoms.

History of Newborn Screening In the 1950s Dr. Robert Guthrie developed a bacterial inhibition assay for mass screening using a filter paper, similar to those in current use, to identify infants with PKU (Guthrie & Susi,

Nurses involved in any aspect of newborn screening are engaging in genetic/genomic health care.

1963). Newborn screening for PKU was initiated in 1963, and by the 1970s had become standard practice throughout the United States (Ross, 2010). Over the next decades, other conditions such as hypothyroidism, galactosemia, hemoglobinopathies, and biotinadase deficiency were added to NBS panels. The total number of conditions scanned for remained relatively low due to technological constraints and guidelines that required the condition to be well characterized and efficacious treatments readily available (Wilson & Jungner, 1968). The World Health Organization (WHO) established principles for adding conditions to NBS panels (Wilson & Jungner, 1968). Criteria represented a shift from addressing health conditions when illness became manifest, to identifying presymptomatic infants for treatment before onset of deleterious complications (see Table 2). Recent challenges to the WHO criteria stem from the development of technologies capable of detecting numerous rare conditions and public demand to test for potentially severe or untreatable conditions. New WHO criteria (see Table 2) reflect evolving and more expansive views about the intent of screening programs and related safeguards (Andermann, Blancquaert, Beauchamp, & Dery, ´ 2008). Additionally, the American College of Medical Genetics recommends mandatory NBS for two categories of conditions (President’s Council on Bioethics, 2008). One category meets the Wilson-Jungner criteria, specifically, wellunderstood and treatable conditions. The second category includes conditions whose clinical courses and related treatment are less well known. The latter category facilitates the gain of empirical knowledge that will lead to treatment that is more effective. Given the variability of state-based NBS programs, the American Academy of Pediatrics

Table 1: Newborn Screening (NBS) and Diagnostic Results Positive (abnormal) screening result Positive (abnormal) diagnostic findings

Negative (normal) screening result

True positive NBS results

False negative NBS results

False positive NBS results

True negative NBS results

Diagnosis confirmed Negative (normal) diagnostic findings Diagnosis ruled out

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Newborn screening identifies infants who might have a particular condition. Additional diagnostic evaluation is necessary to either rule out or confirm the presence of the condition.

calls for partnerships among national organizations and consumer groups to establish standards of practice related to NBS, that is specifically to develop educational materials for families and ensure follow-up care for affected infants (LloydPuryear et al., 2006). Nurses across perinatal care settings need to be knowledgeable about the policies and standards that guide NBS practices.

Expanded Newborn Screening The number and type of conditions on NBS panels vary by state and are mandated by state statutes or administrative rules. Most states include at least 31 core conditions recommended by the Health and Human Services (HHS) Secretary’s

Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC; 2011) (see Table 3). Many NBS programs include more than 50 conditions. Variability exists among states regarding whether screening for certain conditions is mandated or voluntary. Some tests are universally offered but not required, whereas others are offered to select populations (NNSGRC, 2012). Such conditions may include the uniform panel, secondary conditions detectable through tandem mass spectrometry, or other conditions that have not been recommended by the SACHDNC. Considerable interest exists in applying still newer technologies to NBS, such as deoxyribonucleic acid (DNA) analysis (Hollegard et al., 2011) and genome-wide scanning. The DNA testing involves examination of a specimen for specific mutations (deviations or changes) in a particular gene (National Human Genome Research Institute [NHGRI], 2012). Genome-wide scanning involves examining markers across an individual’s complete set of DNA (NHGRI).

Table 2: World Health Organization Criteria for Inclusion of Condition in Newborn Screening (NBS) Original Criteria

Evolving Criteria

Wilson & Jungner (1968)

Andermann, Blancquaert, Beauchamp, & Dery ´ (2008)

1. The condition sought should be an important health

1. NBS programs should be responsive to recognized

problem. 2. An accepted treatment should be available for patients

need. 2. The NBS programs should be defined from the outset.

with recognized disease. 3. Facilities for diagnosis and treatment should be available.

3. The target population should be well defined.

4. Latent or early symptomatic stage should be

4. Treatment should be empirical evidence of

recognizable. 5. A suitable test or examination should be available.

effectiveness. 5. The NBS programs should integrate education, testing, clinical services and program management

6. The test should be acceptable to the population.

6. Quality assurance measure should be performed to

7. The natural history of the condition, including

7. Measures should be taken to ensure informed choice,

minimize potential risks.

development from latent to declared disease, should be

confidentiality, and respect for autonomy.

adequately understood. 8. An agreed policy on whom to treat as patients should be available. 9. The cost of case-finding (including diagnosis and treatment of patients diagnosed) should be

8. Procedures should ensure equity and access to screening for the entire target population. 9. The NBS programs should develop plans to evaluate the program from the outset.

economically balanced in relation to possible expenditure on medical care as a whole. 10. Case-finding should be a continuing process and not a

10. Assure that the overall benefits outweigh the harm.

“once and for all” project.

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Table 3: U.S. Department of Health and Human Services Recommended Core Conditions for Newborn Screening Panels ∗

Hearing loss

Congenital hypothyroidism Cystic fibrosis Hemoglobin SS (sickle cell anemia) Hemoglobin SC (sickle C disease) Medium-chain acyl-CoA dehydrogenase deficiency Classical galactosemia (GALT) Phenylketonuria (PKU) Congenital adrenal hyperplasia (excluding non 21-hydroxylase deficiency) Hemoglobin S/β thalassemia 3-Methylcrotonyl-CoA carboxylase deficiency Carnitine uptake defect Very long-chain acyl-CoA dehydrogenase deficiency Biotinidase deficiency Methylmalonic acidemia (mutase deficiency) Glutaric acidemia type I Isovaleric acidemia Maple syrup urine disease Citrullinemia type I Propionic acidemia Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Methylmalonic acidemia CblA,B Homocystinuria Argininosuccinic acidemia Beta-ketothiolase deficiency 3-Hydroxy-3-methylglutaric aciduria Multiple carboxylase deficiency Trifunctional protein deficiency Tyrosinemia, type 1

Benefits of Early Detection Most NBS conditions are not readily recognizable at birth. Early detection facilitates referral of affected infants for timely treatment. Without NBS, months or years could pass before infants are diagnosed, at which time many are likely to have developed significant complications. Thus, NBS and early diagnosis save lives, prevent disabilities, and benefit individual infants, families, and society (CDC; 2012; Viau et al., 2012). Early diagnosis also saves children from unnecessary invasive procedures and families from financial and psychological costs of diagnostic odysseys (Kharrazi & Kharrazi, 2005). Genetic technologies combined with NBS can also generate knowledge about the natural course of rare conditions, thus transforming our understanding of and capacity to treat individuals with these conditions. Cystic fibrosis exemplifies the impact of increased genetic knowledge on patient care. More than 1,900 CF mutations have been identified with varying mechanisms of dysfunction and a broad spectrum of phenotypic presentations (Cystic Fibrosis Mutation Database, 2011). Newborn screening was largely responsible for a new intermediate classification of CF called CFTR-related metabolic syndrome (Borowitz et al., 2009; Farrell, Rosenstein, et al., 2008). Additionally when NBS involves genetic testing, it also detects infants who are asymptomatic carriers of only one mutation for the screened conditions. Such results provide families opportunities to obtain additional genetic counseling, genetic testing, and make informed reproductive decisions (Etchegary et al., 2012). This genetic information can lead to diagnosing parents and siblings with the same conditions (Lomas & Fowler, 2010). Parents of infants identified as CF carriers through NBS have reported that the experience increased their appreciation for their children’s good health, enhanced family relationships, and promoted empathy for parents of affected children (Tluczek, Orland, & Cavanagh, 2011).

Severe combined immunodeficiency ∗

Critical congenital heart disease

Note. From the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. (2011). Recommended uniform screening panel core conditions. Rockville, MD: US Department of Health and Human Services. Retrieved from http://www. hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ ∗ not blood tests

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Controversies Controversies about NBS arise from the potential risks relative to the benefits of mandated testing. Such concerns include (a) parent informed consent for testing, (b) psychosocial consequences of true or false positive results, (c) storage and retention of specimens containing genomic information, (d) cost-effectiveness of screening for rare conditions, and (d) impact of unsolicited genetic

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information on family members (Anderson et al., 2011; International Society of Nurses in Genetics [ISONG], 2012).

Mandated NBS and Parent Informed Consent Newborn screening began during the 1960s when care providers often made unilateral decisions about what treatment and/or information was in patients’ best interests. States were granted the authority to act in a parental manner, referred to as parens patriae, to mandate NBS programs that would benefit infants who were considered a vulnerable population (Anderson et al., 2011). Today consent is standard practice for many medical procedures and providers collaborate with patients in health care decision making. However, most states do not require formal informed consent for NBS (Tarini & Goldenberg, 2012). Furthermore, primary care providers are often underinformed and unprepared to educate parents about NBS (Ross, 2010). Consequently, parents often lack knowledge about many aspects of NBS or in some cases that the testing was even done (Tluczek, Orland, Nick, & Brown, 2009). Such situations raise serious ethical concerns about the denial of parental rights to make informed decisions about their infants’ involvement in NBS, which is particularly problematic when specimens involve highly identifiable genetic/genomic information. Several alternative approaches to mandated NBS have been proposed to rectify this problem. Tiered consent procedures could require written parental consent for some conditions and waived for others (Ross, 2010). The argument against informed consent is that such procedures might significantly reduce rates of screened infants, posing serious health risks for these infants. Regardless of whether informed consent for NBS is required by law, nurses have an ethical obligation to ensure that parents have the information they need to make informed decisions about NBS.

Psychosocial Consequences of False Positive

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2003), experience parenting stress (Gurian et al.; Waisbren et al., 2003), experience depressive and somatic symptoms (Sorenson, Levy, Mangione, & Sepe, 1984; Tluczek, Koscik, Farrell, & Rock, 2005), and may alter reproductive decisions (Mischler et al., 1998; Morrison & Clayton, 2011). Notification also occurs when women are susceptible to postpartum depressive symptoms that could be exacerbated by such news (Tluczek, McKechnie, & Lynam, 2010). Some long-term studies show lingering concerns about the child’s vulnerability (Tluczek, McKechnie, & Brown, 2011) and overutilization of health care (Waisbren et al.). Others reports show minimal adverse psychosocial sequelae regarding parental anxiety or perceptions of their children’s vulnerability (Beucher, Leray, Deneuville, et al., 2010; Cavanagh, Compton, Tluczek, Brown, & Farrell, 2010) and no increase in health care utilization (Lipstein, Perrin, Waisbren, & Prosser, 2009; Tarini et al., 2011). Neonatal carrier detection offers no health benefits to the infant at the time of screening and it infringes on the child’s right to make autonomous decisions about obtaining such genetic information. Federal law, the Genetic Information Nondiscrimination Act, protects individuals with abnormal genetic findings from discrimination regarding health insurance and employment (110th Congress Public Law 233, 2008; NHGRI, 2012). However, currently, this law does not guard against denial of life, disability, or long-term care insurance or protection for people who work in businesses with less than 15 employees. Consequently, abnormal genetic NBS results can lead to financial burdens for affected children and their families. Additionally, some parents report feeling burdened by a sense of responsibility to inform relatives about genetic information. Finally, genetic testing in NBS can reveal nonpaternity or cause parents to question paternity (Tluczek, Becker, et al., 2011).

Psychosocial Consequences of True Positive

Parents tend to experience significant emotional distress when notified about abnormal results (Moran, Quirk, Duff, & Brownlee, 2007; Tluczek et al., 2006). Given that most abnormal NBS results prove to be false positive, countless parents are caused needlessly to worry about their infants’ well-being (Ciske et al., 2001; DeLuca, Kearney, Norton, & Arnold, 2011; Gurian, Kinnamon, Henry, & Waisbren, 2006; Merelle et al., ´

Much less research has been devoted to the psychosocial consequences for families with infants diagnosed with chronic health problems through NBS. Mothers of infants with CF were less likely to breastfeed their infants than mothers of infants with normal NBS results or those diagnosed with congenital hypothyroidism (Tluczek, Clark, McKechnie, Orland, & Brown, 2010). Bottle feeding has been associated with less sensitive and more taskoriented maternal interactions with their infants as compared to breastfed infants. A long-term

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follow-up study found no benefits from NBS in patient-reported health-related quality of life for children or adolescents with CF (Tluczek, Becker, et al., 2011). These findings suggest that the perceived seriousness of the condition and availability of effective treatments can be a critical factor in the risks versus benefits equations used to evaluate of NBS programs.

Storage and Retention of Specimens Considerable variability among states occurs regarding the storage and retention of NBS specimens (Lewis, Goldenberg, Anderson, Rothwell, & Botkin, 2011). Storage is considered short-term storage if specimens are retained for fewer than 3 years; long-term storage is defined as greater than 18 years (Therrell et al., 2011). Stored specimens have been used for quality improvement, clinical testing, analytical method development, biomedical or epidemiological studies, and forensic purposes (Botkin, Goldenberg, Rothwell, Anderson, & Lewis, 2012; Olney, Moore, Ojodu, Lindegren, & Hannon, 2006). There is debate about whether permission of parents should be obtained to retain specimens with the newborn’s genomic data, how long specimens should be retained, and for what purpose they may be used. These issues have resulted in legal action in Minnesota and Texas with subsequent legislation calling for the revision of NBS procedures to include automatic disposal of specimens and requirement of parental permissions for use of samples for quality assurance or research (Minnesota Department of Health [MDH], 2012; Newborn Doerr, 2010). Botkin and colleagues (2012) recommended that NBS programs develop policies and procedures for retention and use of NBS specimens that are congruent with state and federal law regarding genetic information and guided by the principle of transparency. Parent and professional stakeholders tend to agree that prospective biomedical research that involves identifiable specimens should involve consent of parents and institutional review board oversight. However, parents and professionals differ in their opinions about whether storing deidentified samples should be allowable without consent of parents (Rothwell, Anderson, & Jeffrey, & Botkin, 2010). Parents tend to advocate for obtaining consent for storage and use of residual NBS dried blood samples; researchers contend that waiver of parental consent may be appropriate for research that evaluates new screening techniques that potentially could benefit affected infants (Tarini, Burke, Scott,

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& Wilfond, 2008). Nurses should become aware of policies and procedures related to NBS specimen retention and use where they practice.

Cost-Effectiveness of Screening for Rare Conditions Evaluation of the cost-effectiveness of NBS typically involves computer-generated hypothetical statistical models of projected costs of lifetime care for individuals diagnosed through NBS compared to individuals diagnosed through clinical means. These analyses include estimated cost savings related to treatment of complications that might be prevented by early diagnosis and the quality-adjusted life years resulting from early treatment. To date, all reports concluded that the added cost of expanded NBS are offset by costs saving resulting from prevention of complications (Prosser, Kong, Rusinak & Waisbren, 2010; Tiwana, Rascati, & Park, 2012; Venditti et al., 2003; Wells, Rosenberg, Hoffman, Anstead, & Farrell, 2012). Often such studies do not address the personal costs incurred by families and patients for screening and testing procedures, such as time taken off from work to care for the child when ill or attending clinic appointments.

Unsolicited Genetic Information and Variants of Unknown Clinical Significance Fewer researchers have investigated the impact of the unsolicited genetic information produced from NBS. In one study the authors showed consequences of such information reverberated throughout the family (Tluczek, Orland, et al., 2011). Some parents expressed concerns that other relatives might either have the conditions or be carriers. Many attempted to identify the genetic source within their family pedigrees and struggled with how to share genetic information with other family members, particularly if they had strained relationships. Upon receipt of information that their infants were found to have two CF gene variants of undetermined significance (VUS) or an intermediated CF classification (Tluczek et al., 2010), most parents, particularly mothers, reported initial emotional reactions similar to parents of infants with a clear CF diagnosis. Despite their children’s good health, parents of children with VUS reported continued worry about the uncertainty of symptom onset. They expressed feelings of frustration by the lack of research that might shed light on their children’s prognosis and a sense of isolation because they knew no other parents with similar

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Table 4: Newborn Screening Informational Resources American College of Medical Genetics. (2001). ACMG ACT sheets and confirmatory algorithms. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK55832/ ∗

Baby’s First Test. (2011). Quality assessment of the newborn screening system. Retrieved from http://www.babysfirsttest.org/

Cystic Fibrosis Mutation Database. (2011). CFMBD statistics. Retrieved from http://www.genet. sickkids.on.ca/ StatisticsPage.html Genetics Home Reference. (2012). Your guide to understanding genetic conditions. Retrieved from http://ghr.nlm.nih.gov/ National Human Genome Research Institute. (2012). Talking glossary of genetic terms. Retrieved from http://www.genome.gov/Glossary/index.cfm?p=about National Human Genome Research Institute. (2012). Genetic Information Nondiscrimination Act of 2008 fact sheet. Retrieved from http://www.genome.gov/10002328 National Newborn Screening & Genetics Resource Center. (2012). International newborn screening programs. Retrieved from http://genes-r-us.uthscsa.edu/resources/newborn/international.htm Newborn Screening Task Force. (2000). Serving the family from birth to the medical home. Newborn screening: A blueprint for the future. A call for a national agenda on state newborn screening programs. Pediatrics, 106(2), 389–422. Retrieved from http://www.aap.org/sections/hemonc/sicklecell/SCD%20Downloads/NBSTFBlueprint.pdf President’s Council on Bioethics. (2008). The changing moral focus of newborn screening: An ethical analysis. Retrieved from http://bioethics.georgetown.edu/pcbe/reports/newborn_screening/index.html ∗

Save Babies through Screening Foundation (2012). http://www.savebabies.org/

Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. (2011). 2011 Annual Report to Congress. Retrieved from http://www.hrsa.gov/advisorycommittees/mchbadvisory/ heritabledisorders/reportsrecommendations/reports/sachdnc2011report.pdf ∗

These sites are particularly parent-friendly.

experiences. Coping strategies included searching for information, monitoring their children’s health, being health conscious, choosing labels other than CF for their children’s health status, and remaining hopeful. Parents described the genetic label as having an adverse impact on their perceptions of the child and sense of competence to care for the infant (Grob, 2008).

Nursing Responsibilities Nurses, nurse practitioners, and midwives have a legal mandate to follow the NBS procedures within their states. Thus, it is essential that clinicians remain knowledgeable about laws that govern these procedures so they can provide families accurate information, refer parents to genetic experts as needed, and identify issues that warrant further empirical investigation (ISONG, 2012).

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sults will be available and that detailed information about their infants’ NBS results will be provided to them once results are available. To this end, practicing nurses can learn more about NBS through local continuing education programs, nursing grand rounds, professional journals, and regional newsletters. Undergraduate curriculums should include information about NBS in fundamental courses that address perinatal health care. Additionally, nurses can access information from websites dedicated to NBS available in most states. Table 4 contains a list of websites with information about NBS.

Knowledge about NBS. Nurses need to understand the NBS process well enough to explain to parents why NBS is important, how NBS is conducted, how the results will be communicated to parents and primary care providers, when re-

Family education. Nurses are pivotal in providing parents important information about NBS that can help parents make informed decisions and prevent undue psychological distress if results are positive. Education is integral with informed consent. Nurses need to be as conscientious about NBS education as they would be for tests that are not mandated by law (Grob, 2011). Although such patient education should be offered throughout the perinatal period, the American College of Obstetricians and Gynecologists (2011)

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recommends initiating this process during pregnancy. Three opportune times to educate parents about NBS include the last trimester of pregnancy, immediately before the NBS specimen is collected, and when parents are informed about test results (Salm, Yetter, & Tluczek, 2012). Information needs to be tailored and conveyed in a manner that takes into account parents’ health literacy, psychological state, as well as prior knowledge about NBS and genetics (Tluczek, Zaleski, et al., 2011). Interpreters should be used whenever parents’ English proficiency is questionable. Active verbal communication with parents and provision of written information about the meaning of test results at the time of specimen collection increases their understanding and retention about NBS and satisfaction with the NBS process (Araia et al., 2012). The content of parent education should include the purpose of NBS, how specimens are obtained, what conditions are included in the screening, when and how they will be notified about results (ISONG, 2012). The Newborn Screening Task Force (2000) emphasizes the importance of educating pregnant women about NBS about their options to refuse such testing. If specimens are to be used for purposes other than NBS, for example, research, it is recommended that parents be informed of and provide consent for the use of their infants’ blood specimens, regardless of whether data obtained from the specimens is identifiable or de-identified (Therrell et al., 2011). Parents need to understand the difference between a screening and diagnostic test and that most abnormal NBS results prove to be false positive when additional diagnostic testing is performed. It can be particularly useful to explain the counterintuitive use of the terms, positive and negative relative to NBS results. Colloquial use of the word positive suggests a favorable situation, whereas a positive NBS means the infant might have a health condition and is, therefore, an unfavorable finding. Parents also should be informed about the risks and benefits of NBS and any choices available to them within the law (ISONG, 2012). In some states certain tests are mandatory whereas in other states tests are optional. Some state statuets and administrative regulations allow parents to refuse NBS for religious and other reasons (Lewis et al., 2011). Parents should be offered written information about NBS in a language they understand and information about whom they can contact if they have additional questions. Al-

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Nurses can provide parents information essential to make informed decisions and prevent undue psychological distress if results are positive.

though nurses need not be knowledgeable about every condition on the NBS panel, they should be able to direct parents to additional resources to answer questions they might have about particular conditions. Notification about abnormal NBS results. Effective provider–patient communication is key to assuring parent understanding of test results and minimizing parent emotional distress (Grob, 2011; Salm, Yetter, & Tluczek, 2012). Nurses in primary care settings can play a central role in advocating for family-centered approaches by assessing parents’ emotional state, health literacy, knowledge of genetics, and preferred channel of communication (Grob; Salm et al.). Some parents may prefer face-to-face disclosure whereas others may be comfortable with telephone communication. Parents recommend that providers be well informed, present information honestly and calmly, avoid jargon, and pace content to match parents’ discourse (Farrell, Deuster, Donovan, & Christopher, 2008; Tluczek, Koscik, et al., 2006). Providers need to listen carefully to parents’ concerns, encourage questions, assess understanding, recognize parental distress, offer realistic reassurance (Salm et al.), and avoid misleading statements (La Pean & Farrell, 2005). Providers are also encouraged to stress the infant’s good health, high probability that the positive NBS results will prove to be false positive, and emphasize the benefits of early detection in the event the NBS results turn out to be true positive (Farrell, La Pean, & Ladouceur, 2005). When the type, amount, and timing of information delivery are tailored to parents’ needs, they are more likely to retain accurate information and feel reassured about their infant’s welfare (Tluczek, Koscik, et al.). Minimizing environmental distraction may also increase information retention of NBS test results (Dillard, Shen, Tluczek, Modaff, & Farrell, 2007). Parents also suggest that providers not contact them with positive NBS results on Friday afternoons or leave messages on answering machines. Every effort should also be made to expedite confirmatory diagnostic testing to minimize the duration of diagnostic uncertainty. Referral for genetic counseling. Families should be referred to specialty services in a timely

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manner (ISONG, 2012). Parents who receive formal genetic counseling, report appreciation for genetic counseling and tend to retain information (Kladny, Williams, Gupta, Gettig, & Krishnamurti, 2011). However, the optimal time to perform genetic counseling associated with positive NBS results has been a controversial issue. During the initial evaluation, parents may be overwhelmed by information and less receptive to discussions about genetic risk. Nurses can collaborate with parents, primary care providers, and genetic specialists to determine when genetic counseling is likely to have maximum effectiveness. Nurses tend to interface with parents and their children more often than most other health care providers across health care settings; therefore, nurses are ideally situated to assess parents’ understanding of genetics and identify misconceptions that warrant further remediation. Because NBS often is used to identify carriers of single gene mutations, there will be a need to provide genetic counseling to these youths as they reach their reproductive years. Nurses in primary care settings can work with parents to evaluate their children’s need for genetic information and coordinate genetic services. Nursing education. Most conditions on NBS panels are genetic. In August 2012 the National Institute of Health (NIH) issued a call for research to examine the implications, challenges, and opportunities of applying whole genome sequencing to NBS conditions (NIH, 2012). It is no longer a matter of whether such technologies will be implemented, but a question of when. Hence, nursing curriculums need to provide nurses fundamental information about genetics, genetic conditions, and the principles of population screening that will enable them to understand new technologies and communicate NBS and other genetic results to parents and others genetics health professionals. Coursework should help students develop expertise in assessment, diagnosis, treatment, counseling, coordination of care, and psychosocial support of families affected by genetic conditions. Students also need to become familiar with philosophical frameworks and interpersonal skills related to intraprofessional health care practice. Nursing education programs within health agencies and hospitals can help practicing nurses acquire knowledge in genetic sciences and their application to practice through continuing education and attendance at regional or national conferences. Nurse educators can utilize the Essentials of Genetic and Genomic Nursing: Competencies, Curriculum Guidelines and Outcome Indicators,

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2nd ed. (American Nurses Association, 2009) and G2 C2 Genetics/Genomics Competency Center for Education (2013) as resources for integrating genetic education into nursing training and practice. Nursing research. Applying genome-wide scanning to health care raises concerns about how best to convey information about adult-onset conditions identified early in life, how to address incidental findings of uncertain significance, and implications of early identification of untreatable conditions (Goldenberg & Sharp, 2012). Nursing research is crucial to ascertain the most effective methods for educating parents about NBS and genetics, identify optimal time and approach for genetic counseling, develop patient/family-centered, culturally congruent interventions for those affected by abnormal NBS, and examine the longterm psychosocial impact of using genetic technologies in NBS. We also must continue to evaluate the cost-effectiveness and utility of adding new conditions to NBS panels as well as public opinion about retention and use of genetic-based NBS specimens. Public policy. Professional nurses’ organizations are well positioned to inform members about evolving public policies, controversies, and ethical issues related to genetic screening programs. Nursing can partner with parent advocacy groups to lobby for changes in NBS policies and procedures at state and national levels to enhance services and quality of care for families. Continued biopsychosocial nursing research is also vital to informing public policy regarding NBS.

Conclusion Expansion of NBS to include whole genome analysis is likely to fuel continued debates about risks and benefits. As first-line care providers, nurses in perinatal settings need to remain informed about advances in NBS, related controversies, and actively engaged in parent education. Nursing educational programs, for new and advanced practice nurses, should include NBS content, particularly genetic/genomic information, as core competencies. Nursing research is critical for advancing evidence-based clinical practices and shaping public policy regarding NBS.

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