Newborn Screening

Abstract

Newborn Dried Blood Spot Screening (NBS) is a core public health service and is the largest application of genetic testing in the United States. NBS is conducted by state public health departments to identify infants with certain genetic, metabolic, and endocrine disorders. Screening is performed in the first few days of life through blood testing. Several drops of blood are taken from the baby’s heel and placed on a filter paper card. The dried blood, on the filter cards, is sent from the newborn nursery to the state health department laboratory, or a commercial partner, where the blood is analyzed. Scientific and technological advances have lead to a significant expansion in the number of tests—from an average of 6 to more than 50—and there is a national trend to further expand the NBS program. This rapid expansion has created significant ethical, legal, and social challenges for the health care system and opportunity for scholarly inquiry to address these issues. The purpose of this chapter is to provide an overview of the NBS programs and to provide an in-depth examination of two significant concerns raised from expanded newborn screening, specifically false-positives and lack of information for parents. Implications for nursing research in managing these ethical dilemmas are discussed.

BACKGROUND

Newborn Dried Blood Spot Screening (NBS) is conducted primarily by state public health departments for the early identification of infants with certain genetic, metabolic, and endocrine disorders (March of Dimes, n.d.). Without early identification and prompt treatment, these disorders can result in significant morbidity and mortality (Centers for Disease Control and Prevention, 2011). In all states and most developed countries, a newborn’s blood is obtained from a heel-prick within the first few days after birth to screen for numerous disorders. The blood is placed on filter paper as part of the postpartum care in the birthing facility. In some states, a second screen is conducted during one of the infant’s first well-child visits with their primary care provider. The filter paper is then mailed to the states’ department of health laboratory for analysis and the results are then sent to the infant’s primary care provider. Most results are normal and received within 2 weeks. If the result is abnormal, indicating that the infant may have a disorder, the health care provider is contacted by the health department and specific action steps are recommended to the health care provider to complete additional testing. The additional testing is to confirm the infant as affected or unaffected with a disorder targeted by the NBS program.

In recent years, NBS programs have undergone significant changes, in part because of the counsel of advocacy groups and recommendations of national organizations (American Academy of Pediatrics; Botkin et al., 2006; Eunice Kennedy Shriver National Institute of Child Health and Human Development, 2009; March of Dimes, n.d.; Save Babies Through Screening Foundation, Inc., n.d.). Technological advances that allow the screening of several disorders in one test (tandem mass spectrometry), and research evidence of benefit for affected individuals when disorders are identified during the newborn period, have also driven these changes (Botkin, Anderson, Staes, & Longo, 2009; Botkin, 2005; Botkin et al., 2006; New York State Task Force on Life and the Law, 2000; Wilcken, Wiley, Hammond, & Carpenter, 2003). However, the significant expansion of disorders screened for challenges the assumptions that supported the original mandate for screening of all infants under state legislation. This chapter provides a brief overview of the history of NBS and the recent expansion and assumptions governing this important public health program. Ethical dilemmas raised from screening and the growing role nursing will play within NBS will be discussed.

HISTORY OF NEWBORN SCREENING

Newborn screening (NBS) began in the early 1960s with one disorder, phenylketonuria (PKU), that has an incidence of approximately 1 in 20,000–25,000 infants (Brosco, 2011; Guthrie & Susi, 1963; Therrell & Adams, 2007). PKU is a serious metabolic disease caused by a genetic condition that results in the absence of an enzyme that breaks down an amino acid found in food proteins, specifically phenylalanine to tyrosine. After birth when the phenylalanine builds up within the body, the high levels are toxic to the central nervous system, resulting in profound intellectual disability. If the disease is diagnosed in the newborn period, the infant can be placed on a low phenylalanine diet that can prevent significant morbidity.

PKU is the archetypical condition on which current newborn screening programs are built. The primary assumption of the early programs was that identification of the disorder in the newborn period would enable early treatment that would reduce significant morbidity in virtual all affected infants. The reduction in morbidity provides clear benefits for the affected infants, families, and society. At the time NBS was first instituted, a large proportion of individuals with severe intellectual impairments were provided care in state-run facilities; therefore, reduction in morbidity from PKU represented a direct reduction in state expenses and responsibilities (Grosse, 2005; Lord et al., 1999).

In the 1950s when PKU was identified as a cause of preventable intellectual disability, parents and disability organizations advocated for the screening of all infants for this condition (Guthrie, 1996; Paul, 1998). In 1963, Robert Guthrie developed a technique for testing of dried blood on filter paper for PKU, and this discovery enabled population screening with a method that facilitated ease of collection and mailing of the samples to off-site laboratories that had not been possible (Guthrie & Susi, 1963). The ability to screen all infants born in a state at a central laboratory guided state public health departments’ development of the infrastructure for the screening. Because of in large part due to the work of parent advocacy groups and organizations such as the National Association for Retarded Citizens (Berry & Wright, 1967), state legislatures began mandating PKU screening for all infants born in their state. Massachusetts was the first state to establish a state health department newborn screening program in 1962 (Guthrie, 1996). By 1975, 43 other states had legislated mandatory newborn screening of all infants for PKU (President’s Council on Bioethics, 2008).

EXPANSION

Since the initial implementation for screening of PKU, there recently has been an exponential expansion of the number of disorders for which states mandate newborns to be screened. In the 1990s, most U.S. states were screening newborns for less than 10 conditions and by 2005, many states were screening for at least 20 disorders but with significant variability of the type of tests (American Academy of Pediatrics, 2000; President’s Council on Bioethics, 2008; Therrell, Johnson, & Williams, 2006). In 2005, the U.S. Health Resources and Services Administration (HRSA), part of U.S. Health and Human Services, recognized disparities among the states screening programs and commissioned the American College of Medical Genetics (ACMG) to develop recommendations for a “uniform” screening panel to provide guidance and consistency across all state newborn screening programs (American College of Medical Genetics, 2005). Twenty-nine conditions were recommended in the ACMG report to HRSA as a “core panel” (American College of Medical Genetics, 2005). However, the methods used to develop and the level of evidence on which the recommendations are based have been criticized (Botkin et al., 2006; Moyer, Calonge, Teutsch, & Botkin, 2008). The ACMG process lacked an analytical framework and was based on limited empirical evidence (Botkin et al., 2006). Despite the criticisms, this report was broadly accepted in the professional newborn screening community. The Department of Health and Human Services, Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, the American Academy of Pediatrics, and the March of Dimes endorsed the report and supported the recommendation that all states screen for the “core panel” (American Academy of Pediatrics, 2006; March of Dimes, n.d.; Secretary’s Advisory Commitee on Heritable Disorders in Newborns and Children, 2010). Currently, every state in the United States has expanded their newborn screening programs to screen for more than 30 conditions (National Newborn Screening & Genetics Resource Center, 2011). Newborn screening programs diagnose an estimated 4,000 infants each year (National Newborn Screening & Genetics Resource Center, 2011). The expansion of this state mandated program makes newborn screening the largest application of genetic testing in health care.

However, there are questions if all the disorders on the screening panel are justified for states to mandate under the original assumptions that established newborn screening programs (Botkin et al., 2006; Natowicz, 2005). Several of the conditions are extremely rare, poorly understood, and without treatment that effectively prevents morbidity and mortality. The governing principle for any population-screening program is to effectively prevent morbidity or mortality from the targeted disorders through earlier treatment and with limited harm to unaffected infants (Wilson & Jungner, 1968). This raises concerns whether mandated population screening by states is justified when the affected infant receives limited or uncertain benefit, the cost-effectiveness (the acceptability of additional cost to achieve the desired goal) is unknown, and risks associated with false-positives screening results are increased. With inadequate evidence available, it is challenging to determine the balance of the benefits and risks for several specific conditions for the population.

PARENS PATRIAE

An important aspect of these state-based newborn screening programs from their inception is that mandatory screening is conducted on virtually every infant born in the United States under the power of “parens patriae” (Holtzman, 1997; Pollitt, 2004; Tarini, 2007). The translation of “parens patriae” is parent of the country. Parens patriae is a legal doctrine that gives states the right to assume certain responsibility of parents if it benefits the child and society (Olson & Berger, 2010). It gives states the power to defend the interests of those that are unable to protect their own interest, such as newborns (Gostin, 2008).

All states and territories of the United States, and most developed countries, have state legislation requiring that all infants born in their state undergo newborn screening under the power of parens patriae. Currently, only Wyoming and District of Columbia have laws requiring signed parental permission for the conduct of NBS (Lewis, Goldenberg, Anderson, Rothwell, & Botkin, 2011). In most states, parents are allowed to refuse NBS for religious or philosophical reasons, but parents may not be aware that screening is conducted and, furthermore, are often not adequately informed of their right to refuse (Rothwell, Anderson, & Botkin, 2010; United States General Accounting Office, 2003). The justification for mandatory NBS is that the benefits to children and society are substantial and the state should use its power to protect the interests of children. In an extreme example, state officials in Nebraska removed an infant from his parents to conduct NBS after the parents refused screening. The parents claimed NBS violated their free exercise of religion. The state justified its action in that they were protecting the infant’s health (“Douglas City versus Anaya,” 2005).

As NBS evolves and expands, the justification for mandated screening under the power of parens patriae needs to be re-examined (Pollitt, 2004; President’s Council on Bioethics, 2008; Tarini, 2007). The NBS paradigm has shifted from screening for PKU to the identification of numerous inherited disorders, many of which are poorly understood and lack treatments that prevent significant morbidity. In some cases, early detection may delay, but not prevent, significant disability (Powell et al., 2010). The discussion about benefits has evolved from prevention of morbidity for the affected infant and cost savings for public health to secondary benefits to parents and others (President’s Council on Bioethics, 2008). Some of the secondary benefits from NBS include information to the parents for reproductive planning, prevention of a “diagnostic odyssey” (the relatively long period and multiple tests one usually has to undergo to be diagnosed with a rare genetic condition), identification of maternal disease, and benefits to research from the ability to conduct studies with the children identified with rare disorders (Harrell, 2009; President’s Council on Bioethics, 2008). In this genomic era, where we can screen for a wide range of disorders that may or may not benefit from early detection and treatment, NBS raises ethical questions if the expanded screening should be justified under a parens patrie (Pollitt, 2004).

ETHICAL CONSIDERATIONS WITH THE EXPANSION OF NEWBORN SCREENING

Newborn screening programs continue to expand, most recently with a national recommendation of screening for critical cyanotic congenital heart disease (Secretary’s Advisory Commitee on Heritable Disorders in Newborns and Children, 2011). More disorders will be possible when DNA-based testing, such as sequencing of the individual genome, platforms become feasible. As NBS programs expand their scope, especially when there is limited evidence of direct benefit for affected newborns, there is a need for parents to be adequately informed and provided choices about medical interventions that go beyond the justification of parens patriae. Inadequate provision of information to parents about NBS may also increase the adverse consequences, mainly from the impact of false positive results. These two issues, false-positives and inadequate education, are discussed later.

FALSE-POSITIVE RESULTS

For screening programs in general (such as for breast cancer, prostate cancer, vision screening, and NBS) to be effective, the sensitivity of the tests used to screen for the disorders must approach 100%. This ensures that almost all affected individuals are identified and will potentially receive the benefits from the early detection. However, there is often a trade-off of high sensitivity for low specificity. Specificity is the ability of a test to differentiate those that have the disease and those that do not. When the specificity is low, many healthy individuals will initially have abnormal results that with further testing are found to not have the suspected disordor (Tarini, Christakis, & Welch, 2006). As with most population-based screening programs, the newborn screening test is extremely sensitive, allowing virtually all affected infants to be detected, but it is not necessarily very specific. The ratio of true positive to all positive screens is the positive predictive value. For NBS, most of those with an initial positive screening test are found to be healthy after additional testing, a false-positive screen. The positive predictive values for many newborn screening tests is generally between 1% and 10%, so there may be 10–100 unaffected infants with false-positive results for every affected infant identified (Kwon & Farrell, 2000; National Newborn Screening & Genetics Resource Center, 2011). Those unaffected will include (1) genetic carriers, (2) premature and sick infants with transient abnormalities, (3) infants with benign variants of a condition, (4) healthy infants without a known explanation for the out-of-range result, and (5) those with results from a laboratory error. This results in tens of thousands of false-positive NBS test every year in the United States (Tarini et al., 2006).

There has been a long-standing concern about the psychological effects of false-positive NBS screenings on parents (Holtzman, 2003). An abnormal NBS results can be a time of crisis for parents with a newborn, particularly when they may not have been aware that the screening was conducted or what it entails. For many parents, a false-positive result causes distress and worry that may not be resolved even after further testing confirms the infant is not affected with a targeted disorder (Gurian, Kinnamon, Henry, & Waisbren, 2006; Tluczek et al., 1991; Waisbren, 2006; Waisbren et al., 2003). However, confirmatory testing takes time. Resolution of the crisis situation induced by a positive screen with a normal follow-up test depends on whether parents are convinced that the child is not ill or does not have the suspected disease. The newborns with false-positive results and their families suffer this disadvantage of the program, resulting in a risk for psychosocial harm with little compensatory benefit from the NBS system.

Mothers who received false-positive results reported higher levels of stress (Gurian et al., 2006; Waisbren et al., 2003), depression (Tluczek, Koscik, Farrell, & Rock, 2005; Tluczek, Mischler, & Bowers, 1991), anxiety (Bodegård, Fyrö, & Larsson, 1983; Clemens, Davis, & Bailey, 2000; Fyrö & Bodegård, 1987; Sorenson, Levy, Mangione, & Sepe, 1984), disturbances of the parent–child relationship (Gurian, Kinnamon, Henry, & Waisbren, 2006; Waisbren et al., 2003), altered perceptions and worry about the child’s health (Beucher et al., 2010; Moran, Quirk, Duff, & Brownlee, 2007; Tluczek et al., 2010), persistent worry about the child’s future (Tluczek et al., 2010), and increased use of health care services by parents for the child (Waisbren et al., 2003). Furthermore, one study found about one-half (N = 12) of families following a false-positive NBS result exhibited an impaired parent–child relationship (Fyrö, 1988; Fyrö & Bodegård, 1987, 1988). Additionally, false-positive results and repeat testing have far-reaching effects for the family unit (Sobel & Cowan, 2000). One example is on the parents’ reproductive choices. Parents who received a false-positive result were negative influenced on future reproductive decisions (Mischler et al., 1998; Tluczek et al., 1992). However, it has been found by some that a false-positive NBS does not increase use of medical services (Prosser, Kong, Rusinak, & Waisbren, 2010; Tarini et al., 2011).

The management of expanding NBS programs presents numerous challenges because of the need to respond quickly to positive results while reducing the burdens of false-positive results. Those directly involved must respond quickly and efficiently on behalf of affected infants including clinicians, parents, and public health officials. Although concerns about the psychosocial distress some parents experience following a false-positives screening results have been raised since the 1960s with the description of the PKU anxiety syndrome (Rothenberg & Sills, 1968), what methods of NBS education might reduce the negative impacts of false-positives have not been empirically tested.

INFORMATION FOR PARENTS

NBS is unique from other health care services because it is a state-mandated public health program. There is no requirement to communicate with parents about the screening test, and/or to ask for permission to perform the heel-prick prior to taking the blood sample. Although most states provide educational materials, a significant percentage of parents are not aware the screening is done (Bonhomme, 2009). When a positive result requires further testing, this may be the first point in time that parents are aware that the screening test was performed by the state. Following confirmatory testing, affected children may be referred to subspecialty clinics, depending on the condition, for initial education, further testing, counseling, management plans, and subsequent monitoring. Communication of genetic information, especially screening results, is complex and many health care providers have difficulty fully understanding and effectively communicating the results (Kemper, Uren, Moseley, & Clark, 2006).

The structure and timing of NBS in the postpartum period is a significant contributor to why many parents are unaware that NBS was conducted or what it entails (Davis et al., 2006). Furthermore, recent findings suggest that primary care providers would prefer for someone else to inform families of positive NBS, and a significant portion of providers do not feel competent to discuss the disorders (Kemper et al., 2006). The information for and the active engagement of parents in newborn screening programs remain a major challenge and national priority. Parents want information on this topic, but research indicates that the current educational approaches are largely ineffective (Arnold et al., 2006; Davis et al., 2006). Despite the significant expansion in scope and complexity of these important public health programs, there have been no innovative, broad-scale, or evidence-based approaches to improve the education of new parents about newborn screening.

The lack of adequate education for parents about NBS is a problem for several reasons. First, parents are key participants and consumers in state newborn screening programs, prompt and efficient collaboration between professionals and parents is imperative to providing initial screening, confirmatory testing and evaluation, and follow-up services for affected children. Infants with disorders can be harmed if parents do not act as directed in a quick and appropriate way to the initial screening results when notified. Second, as recognized by the American Academy of Pediatrics (2000), parents have a right to basic information about medical interventions conducted on their children, regardless of the mandatory nature of newborn screening. Third, surveys and focus groups document parents have a strong preference for better education about NBS and for this information to be delivered prenatally (Davis et al., 2006; Rothwell et al., 2010). Fourth, 21 states require parental education through their newborn screening legislation and all states prepare educational materials for parents (Lewis et al., 2011). Because of the fact that most states do not require informed permission for the conduct of NBS, the legislative requirements can be met without actively engaging the parent or assuring they understand the information or even read the brochures. Finally, key professional organizations, federal agencies, and lay advocacy groups have specifically called for enhanced parental education regarding newborn screening with consistent suggestions that this intervention should be provided prenatally (American Academy of Pediatrics, 2000; International Society of Nurses in Genetics, 2011).

Recognizing this problem, the American Academy of Pediatrics Task Force on Newborn Screening outlined a national agenda for strengthening state newborn screening systems and specifically called for the development and assessment of new educational tools for parents and professionals (American Academy of Pediatrics, 2000). The task force’s recommendations regarding newborn screening education were that public health agencies (federal and state), in partnership with health professionals, should address the following strategies (American Academy of Pediatrics, 2000):

• Design and evaluate tools and strategies to inform families and the general public more effectively.

• Public screening programs should not be implemented until they have first demonstrated their value in well-conducted pilot studies.

• Prospective parents should receive information about newborn screening during the prenatal period.

• Studies should be done to broaden understanding of the ways in which communication can be performed more effectively for the benefit of consumers.

• Develop and provide family educational materials about newborn screening in each state or region, with input from families who have children with special needs and/or parent information centers.

There is an emerging consensus that education of parents regarding newborn screening should occur as a part of prenatal care, rather than in the postpartum period alone (Campbell & Ross, 2004; Kim, Lloyd-Puryear, & Tonniges, 2003; Larson, 2002). Childbirth is a busy, confusing, and exhausting time that does not lend itself to education about topics that are not immediately relevant to the care of the baby. Davis et al. (2006) conducted 22 focus groups of English and Spanish speaking parents of infants less than 1 year of age. They found that parents were rarely given information about newborn screening and that education provided during childbirth was ineffective because of the demands of a newborn (Davis et al., 2006). Diem (2004) emphasized the potential effectiveness of education in the prenatal period when many parents are eager to learn about anything related to the health of their future child.

In 2009, the Consumer Task Force on Newborn Screening of the Genetic Alliance, a consumer advocacy organization, conducted a survey of 2,266 women age 18–45 regarding their attitudes on various issues relevant to newborn screening (Bonhomme, 2009). Two of the conclusions of the study were that the public needs and wants more information about NBS, and second, prospective and recent mothers want information about NBS before their baby is born. Results showed that 86% of recent mothers wanted information before or during pregnancy and 90% of prospective mothers wanted it during their pregnancy (Bonhomme, 2009). Prenatal education about NBS is further supported by the American College of Obstetrics and Gynecology (ACOG). In a 2011 opinion, the ACOG Committee on Genetics recommended, that prenatal care providers make resources about NBS available to patients during pregnancy (“Committee Opinion No. 481: Newborn screening,” 2011). The support of ACOG is of critical importance in fostering this intervention by obstetricians.

The lack of adequate information for parents about NBS has become an issue of social justice that is being tested in state and federal courts (Fan, Chen, Lai, Chen, & Chen, 2010; Lilley et al., 2010; Lim et al., 2011). There is a growing dialogue on the importance of transparency that may alter the assumptions under which NBS programs have operated (Botkin, Anderson, & Rothwell, 2011). Furthermore, parents are demanding to know more about NBS and expect to be informed of the testing. If NBS program activities go beyond the states’ legitimate parens patriae authority, parents may be motivated to protect their children from perceived risks or wrongs. But without accurate information, parents’ often lack the tools to make informed decisions, potentially creating health risks for their children.

RESEARCH SUPPORT

There are two primary sources of support for scholarly nursing research in the domain of NBS, the National Institutes of Health (NIH, n.d.) and the Health Resource Service Administration (HRSA, n.d.), both are part of the United States Health and Human Services. The NIH has two institutes with specific interests in NBS: National Human Genome Research Institute (NHGRI, n.d.a) and the Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD, n.d.). The NHGRI’s, Ethical Legal and Social Research Program is an important component of the institute that has funded NBS research (NHGRI, n.d.b). HRSA’s Genetic Diseases in Newborns and Children Branch supports that the Secretary’s Advisory Committee on Heritable Disorders and the Regional Genetics and Newborn Screening Collaborative, the National Newborn Screening, and Genetic Resource Center all provide funding for clinical research and education programs (Health Resource Service Administration, n.d.).

The National Human Genome Research Institute is one of the leaders in the science and support of ethical, legal, and social research at the National Institutes of Health. The Ethical Legal and Social Implications (ELSI) program was established as part of the Human Genome project in 1990 to study the implications of genetic and genomic research (NHGRI, n.d.b). From its inception the ELSI program has a fixed percent of the center’s extramural funding budget for extramural research. Originally 3% and in FY 1991, it was increased to 5% where it is today (NHGRI, n.d.c). These dedicated resources offer stable funding for NBS research. The ELSI program recently posted program announcements for regular research applications (R01), exploratory/developmental grants (R21), and small research grants (R03; NHGRI, n.d.b). Furthermore, NHGRI seeks to address ELSI issues through public and community engagement through the support of six Centers of Excellence in ELSI research (CEERs) at universities across the nation (National Human Genome Research Institute, Center for Excellence in ELSI Research). All these funding mechanisms offer excellent opportunities for nursing research to anticipate, analyze, and address the ethical, legal, and social implication of the discovery of new genetic technologies and the use of genetic information.

In 2008, the Newborn Screening Saves Lives Act sponsored by Sen. Christopher Dodd was passed into law. The act authorized the U.S. Health and Human Services to award grants to (1) provide services to newborns and children having or at risk for heritable disorders, (2) provide screening laboratory personnel, (3) develop educational programs, and (4) to assess and coordinate long-term follow-up (“Newborn Screening Save Lives Act,” 2008). This act supports the NIH’s National Institute of Child Health and Develop (NICHD) to develop methods for adding conditions to the recommend panel, develop, and evaluate interventions to improve outcomes, develop systems to communicate with and educate health care providers, and support research (National Institutes of Health, 2011). One of the main research interests supported by NICHD, through ACMG’s National Coordinating Center (NCC) is the Newborn Screening Translational Research Network (NBSTRN). The NBSTRN is to develop infrastructure in which long-term follow-up and outcome data can be collected for use by investigators (Newborn Screening Translational Network). This dedicated funding has moved the system of newborn screening forward, improving coordination, and providing empirical evidence for the development of NBS interventions and policies. The Newborn Screening Saves Lives Act further charged the Secretary’s Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children to recommend disorders to be screened for and to ensure that states had the capacity to screen for the recommended disorders (Eunice Kennedy Shriver National Institute of Child Health and Human Development, 2009). It required the establishment of a clearinghouse of information, which is being developed by the Genetic Alliance called “Baby’s First Tests” (Genetic Alliance, n.d.). The Centers for Disease Control was to provide laboratory quality assurance/control and establish a national plan in the event of public health emergency (Department of Health and Human Services, 2008). Finally, the act established Hunter Kelly Newborn Screening Research Program within NICHD to identify new screening technologies and research management strategies for conditions the technologies can detect (Eunice Kennedy Shriver National Institute of Child Health and Human Development, 2009).

The third federal component in the support of NBS systems, projects, and research is the Health Resource Service Administrations (HRSA) Genetics Branch. HRSA aims to support the infrastructure for state NBS and genetic programs and integrate the programs with other community services such as the Medical Home (“Health Resource Service Administration,” n.d.). Activities supported by HRSA have primarily included state genetic needs assessment and state genetic plans, evaluation of new technologies, and development of uniform guidelines for state genetic and NBS programs (“Health Resource Service Administration,” n.d.). HRSA has accomplished this in large part through the development and support of Regional Genetics and Newborn Screening Services Collaboratives (“National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives,” n.d.). The aim of the Collaboratives is to improve the ability and capacity of states to provide and expand genetic and NBS services (“National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives,” n.d.). Finally, HRSA has contracted with the American College of Medical Genetics to operate the National Coordinating Center (NCC) for the regional Collaboratives (“National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives,” n.d.).

Furthermore, there is support for NBS research from other organizations such as the Hastings Center, March of Dimes, and the Greenwall Foundation. Laboratorians, physicians, bioethicist, psychologist, and genetic counselors drive much of the research; only a small portion is guided by nursing research. Nursing researchers have much to contribute to this domain of genetic research, especially bringing together transdisciplinary teams to address pressing ethical, legal, and social issues of this rapidly evolving domain of NBS that can serve as an exemplar for other domains of genetics in health care.

IMPLICATIONS FOR NURSING PRACTICE

Nursing scholarship will play a critical role in addressing current and future challenges facing NBS and may provide a mechanism for markedly changing how it is conducted. The most obvious and immediate impact nursing will have on maintaining and improving this important public health program is through empirically based policy development and recommendations for educational interventions. The lack of a permission requirement, in part, has resulted in poor communication about NBS with new parents and limited awareness about it by the general public. In addition, health care providers, who obtain the specimens, are given little or no information on how to communicate when, what, and why this medical procedure is conducted on infants. This responsibility often falls on nurses who oversee, manage, and staff NBS programs.

Many states have been reticent to provide more information about NBS to parents, in part, because of fear of parental decisions to decline screening that may result in missing a child with a disorder (Rothwell et al., 2011). Lack of adequate understanding of these programs and their substantial value by the general public has left health departments vulnerable to criticism and lawsuits, particularly over the management of samples after testing is completed (Maschke, 2009). As a result, some parents are now being encouraged to opt out of newborn screening with misinformation, promoting distrust, and misunderstanding about the programs (Brase, 2009).

As newborn screening continues to evolve, it is important for nurses to be leaders in research that will inform policies and educational interventions (Kemper, Fant, & Clark, 2005). Previous research found that more than half of the nurses involved with the birth of a child talked to parents about NBS, whereas physicians rarely or never discussed NBS with parents (Hayeems et al., 2009). This may be in part because nurses are the ones who interact most with the parents before, during, and after the birth of their child and during NBS specimen collection. Nurses have more opportunities to interact and engage with parents during this important time about the medical procedures conducted on their infants. This experience can provide critical insight into the policies and practices that will be the most efficacious. For example, nurses already provided leadership in several aspects associated with NBS (“International Society of Nurses in Genetics,” n.d.). Nurses were responsible for national policy changes for NBS in the newborn intensive care units to ensure all infants received NBS and to improve accuracy of testing (Southeast Regional NBS & Genetics Collaborative). In addition, nurses have provided key insight into the clinical applications of screening and provided input on national guidelines for newborn hearing screening (Balk, 2007; Brennan, 2004).

It will be important to educate parents effectively about the process of NBS and the risk of not participating. Much of this education is likely to occur prenatally and at the hospital level and by nurses who have multiple interactions with patients (Hayeems et al., 2009; Kemper et al., 2005). Education of parents is likely to also improve follow-up with children with initial positive screens and minimize the harm of false-positives (Waisbren et al., 2003). Furthermore, patient education is a vital component to the nurse–patient relationship and nurses provide most of all education in the clinical setting including the conduct of research (Bastable, 2006). Thus, nursing will be critical to leading efforts to develop valid empirically supported education efforts (Kemper et al., 2005).

The International Society of Nurses in Genetics further supports the role of informed decision making with the following position recommendations (International Society of Nurses in Genetics, 2011):

• Nurses are responsible for alerting clients about their right for an informed decision-making process before genetic testing.

• Nurses need to advocate for client autonomy, privacy, and confidentiality in the informed decision-making process.

• Nurses need to ensure that the informed decision-making process includes discussion of benefits and risks including the potential psychological and societal injury by stigmatization, discrimination, and emotional stress, in addition to, if any, potential physical harm.

• Nurses need to be aware of the clinical and personal utility of genetic testing, such as positive predictive value, penetrance rates, background populations, and affected percentages, and advise clients of the meaning of the testing and results.

• Nurses need to advise clients on the difference between research versus clinical use of genetic testing, return of results, clinical utility, and advise clients of the status of a specific test.

• Nurses who have an established relationship and are providing ongoing care to a client contemplating genetic testing need to augment the informed decision-making process by assisting the client in the context of the client’s specific circumstances of family, culture, and community life.

• Nurses need to integrate into their practice the guidelines for practice (e.g., privacy and confidentiality, truth telling and disclosure, and nondiscrimination) identified by the American Nurses Association.

• Nurses in preparation for providing genetic services need to receive appropriate education that includes knowledge of the implications and complexities of genetic testing; ability to interpret results; and knowledge of the ethical, legal, social, cultural, and psychological implications of genetic testing.

• Nurses need to be aware of genetic health professionals and services with whom they can collaborate to maximize the potential for the client to make an informed decision.

In summary, expanded NBS has highlighted significant gaps in the health care system, most notably lack of information for parents and valid, reliable evidence for the development of interventions and policy development (Botkin et al., 2011; Botkin et al., 2006; President’s Council on Bioethics, 2008). Greater involvement by nurse scholars during the development, implementation, and assessment of prenatal and postnatal education about NBS can significantly improve these programs. As genomics continues to expand into the routine clinical care, ensuring patient understanding through education will be critical for informed decision-making and reduction of medical errors. Nurses will be a central component to any future genomic applications in clinical care.