Technological advances that make expanded newborn screening (NBS) possible have not been matched by advances in research on parent knowledge or attitudes toward screening practices. This gap resulted in litigation in Texas in March 2009 when a complaint was filed by the Texas Civil Rights Project on behalf of five parents. The current Texas legal requirement for NBS is that every newborn will be screened twice, at birth and again within 2 weeks of birth, unless parents object for religious reasons. NBS has been a legally mandated, core public health service in the state of Texas for 45 years, and the mandate for screening was not challenged. The complaint accused the Texas Department of State Health Services (TDSHS) of unlawfully and deceptively storing blood samples from the parents' children for undisclosed research purposes (Beleno, Courtney, Overath, Taylor, & Pacheco v. Texas Department of State Health Services, 2009). In response to the lawsuit, Texas passed a law that required TDSHS to inform parents about how the state uses infant's dried bloodspots (DBS) and permit them to opt-out of the process (Texas Legislature, 2009). The state also destroyed more than 5 million blood samples that could have otherwise been used in research. The suit dramatically highlighted issues pertaining to parental understanding of newborn screening practices.
In June 2012 further regulations called for the current written opt-in consent for retention of DBS obtained through NBS. In the opt-in consent, DBS are not stored without written consent of the parent, in contrast to the opt-out procedure in which DBS are retained unless the parent refuses in writing. TDSHS maintains a Web site with information about NBS and has presented workshops for healthcare providers to inform them of the changes.
Since 2009, no reports have been published about maternal understanding of DBS storage and use. We proposed to explore the understanding of mothers regarding newborn screening practices in Texas and report their attitudes toward screening and retention of DBS during the period in which parents were allowed to opt-out of the procedure. Results will be relevant to other states in the United States that are considering opt-out versus opt-in or informed consent procedures or are considering whether to store bloodspots at all.
NBS is conducted in all states of the United States, although details of testing programs, such as number of conditions screened, vary. The Texas state laboratory screens about 800,000 NBS blood specimens annually. Screenings currently include all 29 conditions recommended by the American College of Medical Genetics (Texas Department of State Health Services a, n.d.). Although all tests conducted do not involve DNA analysis, most meet the commonly used Holtzman and Watson definition of genetic testing, which is the analysis of DNA, RNA, chromosomes, proteins, or metabolites to detect heritable disease-related alterations in the genome (Holtzman & Watson, 1997).
The newborn screening procedure involves pricking the heel of the infant and collecting drops of blood on filter paper. The heel stick is often performed in the nursery out of sight of the parents. Usually, more blood than is needed for the NBS is collected. Since 2002, TDSHS routinely stored leftover DBS from NBS. Stored DBS were available for research following Institutional Review Board (IRB) approval (Texas Department of State Health Services b, n.d.). Prior to the complaint described above, parents were not informed about the uses of DBS. Following passage of House Bill 1672 in May 2009, a disclosure statement was developed to inform parents regarding retention of DBS. The disclosure statement and an "opt-out" form were posted on the TDSHS Web site and attached to the NBS packet. Anecdotal evidence indicated that many parents never saw the opt-out statement and never heard of bloodspot retention for research.
Ownership, control of tissue, and privacy related to genetic testing have been frequent subjects of litigation in the United States in various contexts in the last two decades. One of the best known cases is the successful suit brought against Arizona State University by the Havasupai tribe (Havasupai Tribe v. Arizona State Board of Regents and Therese Markow, 2008), for use of tribal blood specimens for research purposes of which the tribe was unaware. A suit against the state of Minnesota was brought by 17 parents in 2009 claiming that specimens from newborn screening were stored, used, and disseminated without informed consent (Bearder v. Minnesota, 2009). Ultimately, Minnesota, like Texas, responded by destroying stored DBS. Such litigation reflects a growing concern on the part of the public with ownership and control of tissue samples collected from vulnerable populations.
Previous research in both the United States and the United Kingdom has documented that discussion about newborn screening frequently does not take place, especially when screening is mandated and consent is not required (Campbell & Ross, 2003; David et. al., 2006; Detmar et al., 2007; Hargreaves, Stewart, & Oliver, 2005). Other research has investigated parent understanding of specific diseases for which newborn screening is relevant (Detmar et al., 2007) and found deficits in understanding of genetic conditions, as well as deficits in knowledge regarding follow-up and need for treatment.
The question of what parents think of retention of bloodspots was addressed in an Internet-based survey conducted in 2008 with a nationally representative sample of U.S. adults that documented attitudes toward use of infant blood from the NBS in research with or without parental permission and length of time that blood should be stored (Tarini et al., 2010). The study indicated that parents would be willing to permit their newborns' specimens to be used for future research if permission were obtained. From the perspective of the future of research the results are encouraging, but some important gaps remain in understanding parent views, particularly the views of those who do not have Internet access, who do not choose to participate in Web-based surveys, who may not understand some of the concepts involved, who have limited literacy, and/or who are actually at the point of making the decision to permit storage of a child's blood sample. Based on ethical principles and regulatory criteria, Tarini et al. (2010) argue persuasively for waiver of informed consent for research on potential NBS tests. The same reasoning seems to be implicit in current policy regarding handling of retained bloodspots for other research without explicit consent. How parents themselves feel and reason about the matter is still not well documented.
Study Design and Methods
This study is a cross-sectional survey of mothers during the postpartum hospitalization period. Information was obtained from mothers whose babies had newborn screening in the prior 24 to 72 hours. IRB approval was gained prior to beginning the study through the Texas Health Resources, Baylor Health System, and University of Texas at Arlington IRBs.
Sampling Method and Subjects
A nonprobability sample of mothers was recruited on postpartum units in Tarrant, Dallas, and Collin Counties, Texas. Sites included five postpartum units in the nonprofit Texas Health Resources and Baylor Health Systems. Hospitals ranged from a suburban facility with a total of 58 postpartum beds and approximately 3,500 deliveries annually to urban facilities with 64 to 65 postpartum beds and over 6,000 deliveries annually. Mothers of healthy infants were invited to participate if they were able to read English or Spanish. Mothers who were minors (less than 18 years of age) and mothers of infants in the NICU were excluded. Sample size calculations were based on selection of alpha .05. We employed Cochran's sample size formula assuming an estimated population of deliveries at all hospitals of 24,000 babies annually, confidence interval of 5, and confidence level of 95% (Bartlett, Kotrlik, & Higgins, 2001) resulting in an a priori estimate of a desired sample size of 264 respondents. The survey was administered to 548 subjects resulting in a margin of error of +/- 4 for scaled items.
Measures and Instruments
The instrument used in this study is the Maternal Attitudes and Knowledge about Newborn Screening Survey. The first 10 items elicit respondent attributes. Items 11 to 40 are statements that elicit agreement on a 0 to 4 scale with 0 = strongly agree, 1 = agree, 2 = not sure, 3 = disagree, and 4 = strongly disagree. The survey was developed by the investigators. Regional nurse experts with experience in maternal-child nursing and newborn screening assessed content validity and suitability of language.
Items 11 to 38 on the tool contain three theoretical subscales consistent with factor analysis: knowledge about NBS and genetic testing, attitudes toward dried bloodspot retention and sharing, and knowledge about inheritance. The tool was piloted with a sample of English reading and Spanish reading mothers prior to use. The comments of the mothers in the pilot were used to improve wording of items. Overall internal consistency of the survey (N = 548) excluding the demographic section was adequate (Cronbach's alpha = 0.79). Internal consistency reliability of the subscales was good ranging from Cronbach's alpha of 0.83 to 0.88. The Maternal Attitudes and Knowledge about Newborn Screening Survey may be obtained from the first author by request.
Methods/Data Collection
Mothers were provided with the written survey inside a manila envelope and a pencil or a pen. Each participating site delivered and collected surveys using systems that were convenient for them. Neither surveys nor envelopes contained any information that linked with participant private health information. Envelopes were opened by the primary investigator or a research assistant, and data were transferred into an SPSS database.
Data Analysis
Summary statistics were provided for all items in the survey for each participating site and surveys were combined for final data analysis. Because of the representative numbers of women from the three major ethnic groups in the region (African-American, Caucasian, and Hispanic) we did not apply weights for race/ethnicity. Missing data ranged from 1 to 14 responses on any particular item and appeared to be missing at random. Missing data were handled by case deletion in the analyses.
Independent variables including age, race/ethnicity, healthcare worker status, Medicaid coverage, and (for some items) source of NBS information were regressed on the means of responses for selected items representing specific constructs, such as knowledge about newborn screening, knowledge about genetics and genetic testing, and attitude toward storage and use of infant DNA or research. Normality of residuals and collinearity statistics (tolerance and VIF) were checked for each model and were satisfactory.
Results
The sample consisted of postpartum women giving birth at five private hospitals in the Dallas-Fort Worth metropolitan area. As expected, most women were 18 to 35 years of age and were generally representative of the race/ethnicity profile of the area (U.S. Census Bureau, 2012). Although Caucasians represent 73% (mean) of the population in Dallas and Tarrant Counties, only 45% of the women in the sample were Caucasian. This is probably due to immigration trends and to the fact that the Caucasian population in Texas is aging more rapidly than others leaving a smaller pool of Caucasians of child-bearing age (Ramsey, Stiles, Aguilar, & Murphy, 2011).
African-American and Hispanic respondents were significantly less likely to report having a college degree (r = -.163 and -.281, respectively) and significantly more likely to have Medicaid coverage (r = .230 and .185). Women 24 years and younger were significantly more likely to be covered by Medicaid (r = .460) and to be African-American or Hispanic (r = .151 and .140).
It was encouraging to see only 4% of the respondents waited until the third trimester of pregnancy to obtain care or did not obtain care at all. Almost half the women in the sample were covered by Medicaid for this pregnancy and the majority had other children. Most reported speaking English in the home and only 11.2% reported their education as less than high school. Characteristics of the sample are presented in Table 1.
Knowledge About Details of NBS
In the state of Texas, the NBS is repeated 1 to 2 weeks following the birth of the baby. In our sample 236 women were either not sure or did not know when the baby should have another newborn screening. Mothers who obtained information about NBS from the mother's physician or midwife, the child's physician or NP, or the hospital nurse were significantly more likely to know when the baby needed the second screening (p < .0001, p < .001, and p < .0001, respectively). Mothers who reported obtaining information about NBS from the Internet were significantly less likely than others to know when the baby needed the second screening (p < .001). Table 2 illustrates sources of information reported by respondents.
In Texas, parents obtain NBS results from the baby's doctor. In our sample 91.3% of the women did not understand how they would receive results: 495 women were unsure or agreed they would receive NBS results by mail. Furthermore, 278 (51%) women were unsure or did not know where to take the baby for the second NBS. Mothers who reported being informed by their own physicians (p < .001), child's physician or NP (p < .03), or the hospital nurse (p < .0001) were significantly more likely to agree that they knew where to go for the second screening. At the time the survey was conducted, an opt-out system was in place requiring parents to actively opt-out or the state would automatically store infant DBS. Most women (62.5%) were either unsure or disagreed that the state would keep their baby's DBS unless they opted out.
Knowledge About Genetics or Genetic Testing
Most women in the sample agreed that NBS could identify babies with certain serious disorders, but about a third were unsure. Better educated women were only slightly more likely to agree that some of the tests in the NBS are genetic tests (OR = 1.2; p = .004). Over half of the women in the sample (59.1%) were unsure or did not know what newborn bloodspots are in the context of newborn screening.
Working in the healthcare field or learning about NBS from the hospital nurse significantly predicted familiarity with newborn DBS (p = .02 and .04, respectively). For the most part, respondents were unsure or did not agree that abnormal NBS results might indicate abnormalities in their own or the father's DNA (68.2% and 71.4%, respectively). Mothers were more successful in recognizing that there is DNA in the bloodspots obtained in newborn screening, although about a third were unsure (Table 3). Education was significantly related to understanding that DNA is in blood but did not predict the responses to any other knowledge items.
It has been shown that a substantial fraction of U.S. parents have problems with health literacy (Yin et al., 2009), so it is not surprising that confusion about genetic concepts or medical procedures should be found. Exposure to information about forensics through television and movies has taught most people that DNA is present in human tissue. But, in this sample most mothers did not understand that abnormalities in a child's DNA could reflect abnormalities in the parent's DNA, suggesting that mothers do not understand concepts about inheritance or DNA function.
Attitudes
Mothers tended to agree that it would be OK to use baby bloodspots for research on serious disease, although being Hispanic predicted disagreement (Table 3). A substantial proportion of mothers (43.6%) believed it would be OK for the state to keep their baby's DNA for future study if the samples were not connected to the baby's name or other private identification, but almost a third (30.4%) were unsure and 23% disagreed. A substantial proportion of mothers in the sample also disagreed or strongly disagreed (48.6%) with the statement that it is OK for the state to keep their baby's DBS for research without getting special permission from them, and 27% were unsure. Medicaid coverage and/or minority status predicted responses to attitudinal items controlling for age, health worker status, and education as shown in Table 3. As items became less general and as lack of parental control became more obvious, disagreement with the notion of sharing DBS with researchers increased.
Clinical Implications
Our data indicate that postpartum hospital staff nurses provide the bulk of parent education about NBS. Most women in this sample started receiving pregnancy care early in pregnancy, but in spite of having multiple exposures to providers of obstetrical healthcare, maternal knowledge of simple facts about newborn screening, such as where to obtain the second screen and how results would be delivered, was poor. Physicians and midwives providing obstetrical care are not educating about NBS, leaving the postpartum hospital nursing staff as the primary educators. Furthermore, mothers did not obtain useful information about details of NBS from print materials, videos, or the Internet.
Most mothers were unsure/did not know what bloodspots are; therefore, the validity of the parental "opt-out" for state retention of bloodspots was suspect. Opt-in procedures for state retention of bloodspots will increase provision of information about DBS storage procedures, but may result in fewer stored DBS. Mothers believe research with DBS is a good thing, but they want some control over the disposition of their babies' genetic material. The data indicate that minority and lower income mothers may be less likely to relinquish control of infant bloodspots to the state if given a choice (Table 3).
If these results are representative of the population of mothers in Texas, DBS storage in Texas could shrink under an opt-in or informed consent policy. Texas processes about 800,000 bloodspots annually, but if women who are unsure about the rightness of state retention of samples refuse to give consent, the state could see a decrease of over 500,000 samples for storage yearly. The finding that Hispanic ethnicity predicts reluctance to store or share DBS is important in view of the changing demographics in Texas where Hispanics are expected to be the majority soon. Education of parents and nursing staff is a priority for conducting opt-in or genuine informed consent and assuring growth of the DBS repository.
Summary of Nursing Implications
* Our respondents did not obtain useful information about details of NBS from print materials, videos, or the Internet. Handing an expectant or new mother a brochure or directing her to the Internet may not be effective ways to educate about NBS.
* Opt-in procedures or informed consent for state retention of bloodspots will increase the confidence of parents in the transparency of DBS storage procedures, but may result in fewer stored DBS. Mothers believe research with DBS is a good thing, but want some control over the disposition of their babies' genetic material.
* Mothers who self-report as Hispanic or African-American or are Medicaid recipients are less likely to have positive attitudes toward state retention and storage of infant dried bloodspots.
* Postpartum nurses are the chief NBS educators, but time during the postpartum stay is limited and new mothers are typically overwhelmed with their own and their baby's physiological and emotional needs. Further research to design and test educational interventions that are sensitive to the concerns of parents about DBS storage and that can be efficiently implemented prior to birth is important.
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