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This chapter outlines key methodological issues in collecting and analyzing data on outcomes in individuals with genetic disorders that are candidates for inclusion in screening panels, and reviews the relevant literature for two disorders that have relatively abundant evidence. One disorder is medium-chain acyl-CoA dehydrogenase deficiency (MCADD), which is a fatty acid oxidation disorder that is the most common of the new disorders detected by mass-throughput MS/MS technology. MCADD has been the “poster child” for expanded newborn screening. The other disorder is cystic fibrosis (CF), which is also increasingly being added to screening panels.

Screening for metabolic, endocrine, and other diseases in newborns is performed through the laboratory analysis of dried blood spot specimens. This chapter reviews economic evaluations of newborn dried blood spot screening strategies published during 2002-07, focusing on the cost-effectiveness of screening for cystic fibrosis, congenital adrenal hyperplasia, and medium chain acyl-CoA dehydrogenase deficiency (MCADD). The use of tandem mass spectrometry (MS/MS) to detect MCADD is presented in detail, through examinations of the costs of screening and medical management, and of outcomes, including quality-adjusted life year (QALY) measurement, disability, and mortality. Ways to generate higher quality evidence are presented. The chapter concludes with a discussion of the use of economic evaluations to inform newborn screening policies.

This chapter introduces some of the stakeholders and the decisions that made the expansion of newborn screening possible. This expansion is defined as screening for additional disorders beyond the recommended panel. The reason for attending to this implementation process is that it offers a powerful benchmark for examining the work in the clinic. It is argued here that the recurring problems that families and geneticists encountered in the clinic were largely hardwired into the way the expansion of newborn screening was implemented. The setup of newborn screening affected which conditions could be screened, how quickly parents could be informed of the results, who would help them interpret and understand the results, who would pay for screening, and what the ensuing medical care would be like.

This book begins by showing how powerful the rationale for expanding newborn screening is, with its appeal residing in secondary prevention. Rather than treating children with devastating metabolic conditions, screening advocates hope to forestall the onset of symptoms. Newborn screening identifies infants who have a condition but are still asymptomatic and offers them preventive measures that may postpone symptom development. It presents as an example the story of Scott and Renee Baio. From a public health or medical perspective their ordeal does not count for much: their daughter Bailey’s case was included in a state database of false positives and this measure represents the only official record of her screening experience. The encounter with newborn screening shaped Scott and Renee’s young marriage, their charitable work, and their relationship with their daughter.

This chapter focuses on two developments that will speed up change in the population profile of DHH children: early identification through universal newborn hearing screening (UNHS) and early cochlear implantation. Studies show that children identified through UNHS within the first weeks of life have superior development on a wide range of measures, both linguistic and social-emotional, compared with children whose hearing loss was identified at later ages. The literature also provides compelling evidence of an improved rate and level of spoken language development for most children with severe to profound sensory-neural deafness who receive a cochlear implant, provided that they receive consistent input in spoken language. The chapter argues for an alternative approach to early intervention, which seeks to identify — at the earliest possible stage — those children for whom spoken communication may not be entirely accessible and for whom signed communication will likely be necessary to ensure their linguistic, social, cognitive, and emotional development. It then seeks to provide those children with a program focusing on the development of both spoken and signed language (or communication).

This chapter gives an understanding of the essential tasks involved in setting up a good quality screening programme. Newborn hearing screening is used as a case study. There is an old saying that all you have to do to create an effective service is choose the right things to do, then do them right. Choosing the right screening involves assessing the evidence and making policy. Doing screening right means setting up a well ordered programme when screening is worthwhile, ensuring that the service is always of high quality, dealing effectively with problems, and making sure that when harm is more likely than benefit then screening does not happen. The chapter focuses on matters that are essential if screening is to achieve public health improvement — irrespective of where, and in what type of health system, it is being delivered.

The chapter considers the ownership of newborn screening cards (also known as Guthrie cards) and the blood spots retained on them, the role of consent to the use of these cards and relevant data protection provisions which have resulted in challenges to their retention. The issues raised here also have relevance for biobanks and other existing archives of retained biological samples in hospitals and research facilities as similar questions arise in relation to those collections. The chapter recommends that legislation be introduced to exempt the newborn screening card collection from data protection legislation and to put in place a clear and robust governance framework to ensure that individual rights are protected to the greatest extent possible. These recommendations are also relevant to other collections of biological samples in which a strong argument exists for their retention for diagnostic purposes as well as for public health

This chapter shows that the expansion of newborn screening has paradoxically launched some families onto diagnostic odysseys of an entirely different sort. Rather than diagnosing asymptomatic patients with clear-cut diseases, expanded newborn screening identified a distinct group of newborns with screening values lying outside a preset normal range that did not always clearly correlate with defined disease categories. We refer to these patients as patients-in-waiting because they hovered for extended periods of time under medical attention between sickness and health, or more precisely, between pathology and an undistinguished state of “normality.” A patient-in-waiting was treated as a patient in the medical encounter, but it was not always clear whether anything was wrong. The major issue facing a newborn patient-in-waiting was not only whether the baby would develop a metabolic disorder but also whether the screened condition was actually a disease.

This chapter focuses on the practice of newborn bloodspot screening, with particular emphasis on the challenges to the parens patriae doctrine and the allocation of public resources for such endeavor. Nearly every newborn in the United States is screened for certain genetic diseases in order to identify children with serious and treatable conditions that respond to timely treatment. However, some programs screen for conditions for which no current treatment exists, and in some states, even when effective treatment is available, there is no provision for affected children to receive the necessary care. A further problem of justice is that parents are not adequately informed about what is being done and their consent for screening is rarely obtained. The chapter recommends changes in how these program are administered that would promote justice and improve transparency and trust in the health care system.

Given the established success of newborn screening programmes around the world, promoters of personalized medicine envision the possibility of extending genetic analysis to bloodspots routinely collected for newborn screening. Since most of the diseases already screened for are genetic, diagnosis would be more precise. Moreover, data thus collected would merge into the creation of a repository of genetic information accessible in case of future health-related needs. The appeal of such a plan poses a series of ethical challenges related to the peculiar nature of genetic information, the involvement of babies, and the blurred boundaries of such an enterprise that extends beyond prevention, to clinical practice and research. After reviewing the key elements of the practice of newborn screening, and the increased use of genetic testing of babies, the paper analyses UK policies as a test case, considering the ethical implications of consent, solidarity and the conflict of interests involved. It is demonstrated that some forms of ‘genetic expansion’ of newborn screening amount to genetic research on minors and, consequently, must follow well-established protocols. Such screening may also violate the established legal principle that parental consent is based on the child’s best interests. Other forms of accumulation of data cannot even account for research, thus lacking scientific justification. Whether or not whole-genome screening of babies may be a promising scientific pathway, it should not threaten clinical standards of childcare in the guise of expanding a well-established public health initiative for children, without proper and agreed justification.

In order to illustrate how advocates are mobilizing mutations today, this chapter delves into the patient advocacy network organized around 22q11.2 Deletion Syndrome. Activists still face a range of deep-seated obstacles—especially in fields that are resistant to genomic designation—leaving conditions like 22q11.2DS underrecognized and many patients undiagnosed. This chapter shows how 22q11.2DS advocates have made huge strides courting allies and expert-activists, advancing awareness among key constituencies, increasing detection, and building capacities. Drawing on the model of the Fragile X movement, groups like the International 22q11.2 Foundation have developed the knowledge and resources—including specialist clinics, local support groups, diverse research programs, a growing medical literature, and online resources for parent-advocates—that can transform patients’ lives. They have also sought to absorb the 22q11.2 duplication syndrome population into their ranks and add 22q11.2DS to newborn screening programs. With new historical conditions of possibility, the help of a new generation of genetic counselors, and established repertoires of social mobilization to draw upon, advocates have turned 22q11.2DS into a powerful category of human difference in certain fields and locales. Studying the 22q11.2DS network or "apparatus" therefore helps us understand what it takes to make mutations truly matter to patients and families.

In 2002, scientists were reported to have discovered a “genetic predisposition to violence” in the form of the MAOA gene (monoamine oxidase A). Bioethicists reflecting on the discovery recommended that parents should use preimplantation genetic diagnosis to genetically test their embryos for the dangerous gene and encouraged states to screen newborns for those children who harboured the criminal tendency. This chapter shows that scientists never in fact discovered a genetic predisposition to violence, for discussions of the 2002 study that conceive of the study in that way fundamentally mischaracterize the results about MAOA. This mischaracterization has corrupted the bioethical discussions, leading to dangerous confusion about who does and does not bear a “predisposition to violence”.

This chapter focuses on the medical consultation as a site where uncertainties regarding children’s ambiguous health status were worked out collectively as the child grew. One of the most pressing questions facing parents of newborn screening patients was: is my baby normal? While these babies might have appeared to look like any other baby, uncertainties about their health and development could remain for many months, even years. As is shown here, it was within the confines of mundane clinical encounters and routinized developmental assessments that geneticists attempted to scale back the initial anxieties prompted by the shock of a positive newborn screen and to provide reassurance about a child’s uncertain future. Despite the high-tech infrastructure of expanded newborn screening and genetic testing protocols, once the possibility of further genetic testing was ruled out, newborn screening follow-up visits adhered to a familiar format.

Describes the long-term process of implantation and names the five stages: identification, intervention, candidacy, surgery and long-term follow up. Defines the ‘anticipatory structures’ that surround parents as they move through the implantation stages, but focuses on the microinteractions and institutional processes involved in newborn screening and identification of deafness