Decision Making in Expanded Newborn Screening: The Case of Duchenne Muscular Dystrophy.

Background. Newborn screening (NBS) is a mandatory public health program aimed at the early identification of babies with conditions that will benefit from early diagnosis and treatment. With increasing technology, some programs have offered optional NBS for diseases for which there is limited treatment efficiency data. This dissertation used Duchenne muscular dystrophy (DMD) as an exemplar to address whether variation in the presentation and structural characteristics of NBS influence decision making. Methods. In 3 randomized survey experiments using Internet samples, I explored characteristics of test structure and presentation that may motivate utilization of DMD NBS. The primary outcome variable was intent to utilize DMD NBS with additional outcome variables of attitudes towards DMD NBS. Results. Providing a context of mandatory NBS (either bundled or unbundled) influenced DMD NBS intent and attitudes towards DMD NBS. When participants were not given this broader context in which to place a specific optional NBS, they were more hesitant to choose testing. Neither the mode of results release, nor the overall test purpose guiding the release, were significant predictors when parents lacked any specific reason to believe their child was at risk. However, an interaction of DMD NBS purpose and perceived vulnerability showed that personal purpose increased DMD NBS intent when perceived vulnerability existed, but DMD NBS intent was relatively consistent regardless of perceived vulnerability when the test’s main purpose was research. Conclusions. New parents are increasingly being faced with optional NBS decisions, yet there is no consistent policy regarding optional NBS communication, in terms of the information included and the way this information is presented. The results suggest that future optional NBS programs should be careful to present testing information in a way that explains how a single optional NBS test fits into overall mandatory NBS. Additionally, health professionals should attend to parents’ perceptions of their child’s vulnerability, which appears to be a broader construct than simply family history of a specific disease. Increasing attention to the influence of such structural factors and individual differences on optional NBS decision making will become more and more important as NBS programs are likely to continue expanding.PHDHealth Behavior & Health EducationUniversity of Michigan, Horace H. Rackham School of Graduate Studieshttp://deepblue.lib.umich.edu/bitstream/2027.42/98052/1/selillie_1.pd

Return of Results from Research Using Newborn Screening Dried Blood Samples

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/115943/1/jlme12299.pd

Ethical aspects of the newborn screening program : the Israeli program as a test case

Background: In the past twenty years most western countries have been expanding their newborn screening (NBS) services, relying on novel bio- and information technologies. This process has been accompanied by significant lay, ethical and legal debates regarding the structuring of the expanded program and the roles it grants to personal parental choices and values. In order to better understand expanded NBS as a health service, this research focuses on the recently expanded Israeli program and examines it from different perspectives, especially ethics, public participation and cultural awareness in pediatric public health services and programs. Methods: This research employs three main methodologies. Historical research of primary and secondary sources; bioethical analysis in the style of analytic philosophy; qualitative methodology in the form of in depth interviews with two groups of people (the Israeli National Newborn Screening Lab and certified home birth midwives). Results: Whereas it is customary to represent NBS as a discrete and cheap universal public health service that prevents catastrophic inborn diseases, this thesis highlights NBS as a complex practice, which have impacted the contemporary construction of childbirth as a hospital based event, and that it has been constructed as a hybrid of public health and clinical service. Despite the explicit commitment to patient autonomy and parental responsibility, the framing of choice in NBS is not in line with the standards of respect for patients’ autonomy in other areas of medicine. The analysis of the Israeli program, data and policy exposes inconsistencies and ambiguities at the normative level as well as in the actual daily practice. This is borne out by the diverse avenues of information and communication strategies adopted. The professionals responsible for the screening program articulate commitment to universal coverage and diagnostic precision; home-birth midwives, who self-represent as an alternative to the mainstream biomedical establishment, direct their critical attention to the notion of natural birth, practically relegating newborn screening to the spheres of pathology and expert opinion. Based on the research’s findings and the literature on public participation in public services, the thesis concludes with a model for integrating public participation with expert authority in the planning of a health service such as the newborn screening

University of Pittsburgh student-athlete perceptions and ethical evaluation of the NCAA sickle cell trait screening program

Background: Individuals with sickle cell trait (SCT) typically do not suffer any health complications; however, adverse effects associated with SCT can occur, especially under extremely physical conditions. The National Collegiate Athletic Association (NCAA) mandates SCT testing for all incoming freshmen or transfer students-athletes. The NCAA SCT screening program has been controversial; organizations, such as the American Society of Hematology (ASH), instead recommend implementing universal interventions (e.g. monitored work-rest cycles) to protect all student-athletes, regardless of SCT status, from exercise-related injuries. Concerns about the program stems from its mandatory nature and how the program can impact student-athletes, with potential harm through stigmatization and discrimination. Screening programs can often be effective and important public health interventions; however, when any program is mandatory in nature, their appropriateness should be investigated. Despite the direct impact of the program on them, student-athletes’ perceptions of the program have not been thoroughly assessed. The purpose of this study was to elicit student-athletes’ thoughts and feelings toward the NCAA program to learn about their perceptions and to evaluate the ethical concerns about the program. Methods: Qualitative interviews were conducted with freshmen or transfer student-athletes at the University of Pittsburgh. The interviews were transcribed and coded using qualitative thematic analysis and analyzed. Results: Sixteen student-athletes were interviewed. Participants were supportive of the NCAA policy, due to their perception of SCT as a significant health concern. Furthermore, participants were in favor of genetic counseling which provided understanding of screening rationale. Participants did not readily raise concerns the ASH had identified, such as stigmatization or discrimination; moreover, student-athletes were hesitant to endorse implementation of universal interventions, worrying such measures may hinder athletic performance. Conclusion: This study reflects the attitudes of a small number of student-athletes at the University of Pittsburgh. Future studies are needed in order to evaluate the perceptions of student-athletes at other institutions. Despite the lack of student-athletes expressing ethical concerns, a non-mandatory "opt-in" screening program that includes genetic counseling, combined with the implementation of universal interventions, could achieve the health-promoting goals of the NCAA with regard to SCT and would be more ethically sound

Informed Choices in Biobanking: An Examination of Participants' Understanding and Congruence between Knowledge, Values, and Decisions

The ethical foundation of clinical research is informed consent. Biobanking has added to the complexity of the informed consent process. Biomedical research with human biospecimens often occurs without any consent or with inadequately understood consent information. Yet, the use of biospecimens in research is not without controversy. One abundant source of biospecimens for research is residual dried blood spots (rDBS) from newborn screenings. Approximately 4 million infants are born annually in the United States (U.S.) and most have mandatory newborn screening. In 2010, the state of Michigan implemented a process of written parental consent for donating newborns’ residual dried blood spots to the Michigan BioTrust for research. Thus, biobanking of newborn rDBS in Michigan presented a prime opportunity to study mothers’ level of knowledge, attitudes, values, and decision-making after a broad consent process for donating their newborn’s rDBS for research. Therefore, the purposes of this dissertation research are to a) describe the current state of the science regarding participants’ understanding of informed consent for biobanking; b) describe the influence of mothers’ knowledge (understanding of biobanking), values (personal and religious), and perceptions of the informed consent process (content and context) on their decisions to donate their newborn’s rDBS for research purposes; c) compare and contrast mothers’ knowledge of and attitudes towards biobanking, socio-demographics, and personal and religious values with their decisions (yes or no) to donate their newborn’s rDBs for research purposes and determine the proportion of informed choices. A qualitative descriptive design, a non-experimental survey, and methodological triangulation are used in this three-paper style dissertation. The first of the three papers (Chapter 2) is a systematic review to evaluate participants’ level of understanding of the information presented during the consent process for donation of biological specimens for research purposes (i.e., for biobanking or genetic epidemiological studies). Results indicated many elements of informed consent unique to biobanking were inadequately understood by potential participants. Next, semi-structured interviews (Chapter 3) were used to describe mothers’ understanding of biobanking, attitudes about rDBS research, and the influence of personal values on the decision-making process. Findings indicated that while most mothers agreed (14/20; 70%) to donate the rDBS and expressed favorable attitudes about research, most decisions (16/20; 80%) were determined to be uniformed choices due to inadequate knowledge of the Michigan BioTrust and biobanking. A non-experimental, descriptive and correlational survey was randomly distributed to 500 mothers in the state of Michigan with a newborn age 0-3 months (Chapter 4) to examine knowledge, attitudes and values, and the proportion of informed choices in a larger sample using standardized instruments. Just over half of the mothers (55%) in this study were deemed to have made an informed choice; however, knowledge scores were still low. On average, respondents were only able to correctly answer approximately 8/16 biobanking questions. With 4 million American newborns having blood spots each year there are significant policy implications to this research (Chapter 5). Three recommendations are put forth: include the ethical implications of biobanking in educational materials, enhance consenters’ knowledge about rDBS research and their communication skills for conducting informed consent processes, and move the educational content about rDBS research to the prenatal setting (Chapter 5).PHDNursingUniversity of Michigan, Horace H. Rackham School of Graduate Studieshttps://deepblue.lib.umich.edu/bitstream/2027.42/146015/1/eeisen_1.pd

Population-based outcomes of a provincial prenatal screening program : examining impact, uptake, and ethics

The field of prenatal screening and diagnosis has developed rapidly over the past half-century, enabling possibilities for detecting anomalies in reproduction that were never before contemplated. A simple blood sample can aid in the identification of several conditions in the fetus early in the pregnancy. If a fetus is found to be affected by Down syndrome, anencephalus, spina bifida, or Edward's syndrome, a decision must then be made whether to continue or terminate the pregnancy. As prenatal screening becomes increasingly commonplace and part of routine maternal care, researchers are faced with the challenge of understanding its effects at the level of the population and monitoring trends over time. Greater uptake of prenatal screening, when followed by prenatal diagnosis and termination, has important implications for both congenital anomaly surveillance and infant and fetal mortality indicators. Research in Canada suggests that this practice has led to reductions in the congenital-anomaly specific infant mortality rate and increases in the stillbirth rate.(1, 2) The current study is a population-based, epidemiological exploration of demographic predictors of maternal serum screening (MSS) and amniocentesis uptake, with special attention to variations in birth outcomes resulting from different patterns of use. To accomplish our objectives, multiple data sources (vital statistics, hospital and physician services, cytogenetic and MSS laboratory information) were compiled to create a comprehensive maternal-fetal-infant dataset. Data spanned a six-year period (2000-2005) and involved 93,171 pregnancies. A binary logistic regression analysis found that First Nations status, rural-urban health region of residence, maternal age group, and year of test all significantly predicted MSS use. Uptake was lower in women living in a rural health region, First Nations women, and those under 30 years of age. The study dataset identified ninety-four terminations of pregnancy following detection of a fetal anomaly (TOPFA), which led to a lower live birth prevalence of infants with Down syndrome, Trisomy 18, and anencephalus. While a significant increasing trend was observed for the overall infant mortality rate in Saskatchewan between 2001-2005, a clear trend in one direction or the other could not be seen in regards to infant deaths due to congenital anomaly. First Nations status and maternal age were important predictors of both MSS and amniocentesis testing, and appeared to influence the decision to continue or terminate an affected pregnancy. The fact that First Nations women were less likely to screen (9.6% vs. 28.4%) and to have diagnostic follow-up testing (18.5% vs. 33.5%), meant that they were less likely to obtain a prenatal diagnosis when the fetus had a chromosomal anomaly compared to other women (8.3% vs. 27.0%). This resulted in a lower TOPFA rate compare to the rest of the population (0.64 vs. 1.34, per 1,000 pregnancies, respectively) and a smaller difference between the live birth prevalence and incidence of Down syndrome and Trisomy 18 for First Nations women. Women under 30 years of age were much less likely to receive a prenatal diagnosis when a chromosomal anomaly was present (18.4% vs. 31.8%). While risk for a chromosomal anomaly is considerably lower for younger mothers, 53.5% of all pregnancies with chromosomal anomalies and 40.7% of DS pregnancies belonged to this group. Consistent with other studies pregnancy termination rates following a prenatal congenital anomaly diagnosis are high (eg. 74.1% of prenatally diagnosed Down syndrome or Trisomy 18 cases), but these rates may be misleading in that they are based on women who chose to proceed to prenatal diagnosis. The fact that two-thirds (67.3%) of Saskatchewan women who received an increased-risk result declined amniocentesis, helps to put this finding into context. Strong surveillance systems and reasonable access to research datasets will be an on-going challenge for the province of Saskatchewan and should be viewed as a priority. Pregnancies and congenital anomalies are two particularly challenging outcomes to study in the absence of perinatal and congenital anomaly surveillance systems. Still pregnancies that never reach term must be accounted for, in order to describe the true state of maternal-fetal-infant health and to study its determinants. While our study was able to identify some interesting trends and patterns, it is only a snapshot in time. Key to the production of useful surveillance and evaluation is timely information. The current system is not timely, nor is it user-friendly for researchers, health regions or governments. Data compilation for the current study was a gruelling and cumbersome process taking more than five years to complete. A provincial overhaul is warranted in both the mechanism by which researchers access data and in the handling of data. The Better Outcomes Registry & Network (BORN) in Ontario is an innovative perinatal and congenital anomaly surveillance system worthy of modelling.(3) Academic papers in non-ethics' journals typically focus on the technical or programmatic aspects of screening and do not effectively alert the reader to the complex and profound moral dilemmas raised by the practice. A discussion of ethics was felt necessary to ensure a well-rounded portrayal of the issue, putting findings into context and helping to ensure their moral relevance did not remain hidden behind the scientific complexities. Here I lay out the themes of the major arguments in a descriptive manner, recognizing that volumes have been written on the ethics of both screening and abortion. A major ethical tension arising within the context of population based prenatal screening is the tension between community morality and the principle of respect for personal autonomy. Prenatal screening and selective termination have been framed as a purely private or medical matter, thereby deemphasizing the social context in which the practice has materialized and the importance of community values. I consider how a broader sociological perspective, one that takes into account the relevance of community values and limitations of the clinical encounter, could inform key practice and policy issues involving prenatal screening. It is my position that the community's voice must be invited to the conversation and public engagement processes should occur prior to any additional expansion in programming. I end with a look at how the community’s voice might be better heard on key issues, even those issues that at first glance seem to be the problems of individuals. As Rayna Rapp (2000) (4) poignantly observed, women today are 'moral pioneers' not by choice, but by necessity. By elucidating the effects of prenatal screening and the extent of the practice of selective termination in the province, the true occurrence of important categories of congenital anomalies in our province can be observed. Without this knowledge it is very difficult to identify real increases or decreases in fetal and infant mortality over time as the etiologies are complex. Evidence suggests a large and increasing impact of TOPFA on population-based birth and mortality statistics nationally, whereas in Saskatchewan the effect appears to be less pronounced. Appreciation of the intervening effect of new reproductive technologies will be increasingly important to accurate surveillance, research, and evaluation as this field continues to expand

Negotiating Deliberative Ideals in Theory and Practice: A Case Study in “Hybrid Design”

Much literature on deliberation is derived from ideal theory. However, deliberations are inevitably non-ideal in two ways: (1) many deliberative ideals are in tension with each other; and 2) intended balancing of ideals cannot be attained perfectly amidst the messiness of real-world recruitment and conversation. This essay explores both kinds of non-ideality in respect to a case study: the 2011 community deliberative processes on a state public health “biobank,” the Michigan BioTrust for Health. We follow two recommendations from major contemporary theorists of deliberation: to be transparent about how competing deliberative goals are negotiated in deliberative design; and to publicize case studies that report associated struggles and results. We present our “hybrid design” that sought to negotiate tensions within three families of deliberative goals: goals of representation and inclusion; goals of discourse-framing; and goals of political impact. We offer deliberative facilitators tentative suggestions based on this case study, concluding deliberations need not be “ideal” to be transformative

The Normative Approach of the Catholic Tradition in the Ethical and Religious Directives for Resolving Ethical Dilemmas Regarding Medical Technology

The dissertation engages the Catholic Tradition enunciated in the Ethical and Religious Directives for Catholic Health Care Services to provide a normative approach for resolving ethical dilemmas regarding pivotal breakthroughs in medical technology. This normative ethical approach has two components: a normative framework for Catholic health care ethics that adopts practical ethical principles as enunciated in the Ethical and Religious Directives (Chapter 2) and secular decision-making models in organizational and clinical ethics that are consistent with the Catholic Tradition (Chapter 3). At the end of the theoretical analysis in these chapters, the conclusion to Chapter 3 explains how this normative approach reflects the Catholic Tradition on Natural Law. This normative approach is then applied to significant ethical dilemmas regarding a variety of pivotal issues that deal with medical technology: reproductive technologies (Chapter 4), regenerative technologies (Chapter 5), and end-of-life technologies (Chapter 6). The conclusion of each of these practical chapters applies the Natural law approach of the Catholic Tradition to offer an ethical critique of each topic based on the Ethical and Religious Directives