Mary Ann Baily

Newborn screening technology: proceed with caution.

The American College of Medical Genetics (ACMG) recommends a significant expansion in the number of conditions targeted by newborn screening (NBS) programs.1 In this commentary we advocate a more cautious approach. NBS dates to the early 1960s, when the technology developed to conduct large-scale testing on dried blood spots for phenylketonuria (PKU).2 PKU remains the paradigm condition for NBS because of features of the disease and its treatment, which are particularly advantageous to population screening. It is a condition that silently causes neurologic devastation but is amenable to early detection and effective prevention with a diet of moderate burden and complexity.3 Many children affected with PKU and their families have benefited from state screening programs over the past 4 decades because of collaboration between health departments, families, primary care providers, and metabolic specialists. However, PKU screening is not an unmitigated success.4,5 There was initial uncertainty about whether children with variant forms of hyperphenylalaninemia required treatment and about whether affected children require life-long dietary management.6 Indeed, some children with benign conditions were seriously harmed from unnecessary restrictions in their diets.5 In addition, long-term studies demonstrate decrements in cognitive function for affected children and adolescents who are not fully adherent to the diet,7,8 yet adherence to the diet is challenging because of its poor palatability, high cost, and limits on insurance coverage in many policies. Affected women who are off the diet are at high risk of bearing severely neurologically impaired children.9 Only recently have many programs begun tracking affected women to enable notification, education, and management. These difficulties by no means negate the value of NBS for PKU, but they highlight the problems with the successful implementation of a population-based screening program even when a model condition is targeted. … Address correspondence to Jeffrey R. Botkin, MD, MPH, Research Administration Building, 75 South 2000 East #108, Salt Lake City, UT 84112-8930. E-mail: jeffrey.botkin{at}hsc.utah.edu

Special Report: The Ethics of Using QI Methods to Improve Health Care Quality and Safety

PREFACE Powerful forces of change are at work within the American health care system. The public debate concerning health care financing and access to insurance coverage is intensifying. But below the surface of the media and policy debate about cost and access, a quieter but perhaps more significant process of change is under way: the transformation of health care management and delivery--indeed, health professional work itself-through health care quality improvement. The innovative, interdisciplinary quality improvement (QI) movement has begun to significantly upgrade delivery of health care in the United States. Taking its cue from reform approaches in other industries, and driven especially by studies indicating a shockingly widespread incidence of medical errors and a striking lack of consistency in the standard of care patients receive in different facilities and from different practitioners, the QI movement has arrived in health care. Using knowledge gained from the disciplines of medicine, nursing, health care management, and medical and health services research, it attempts to mobilize people within the health care system to work together in a systematic way to improve the care they provide. In this work, discipline-specific knowledge is combined with experiential learning and discovery to make improvements. Ethical issues arise in QI because attempts to improve the quality of care for some patients may sometimes inadvertently cause harm, or may benefit some at the expense of others, or may waste scarce health care resources. Ethical issues also arise because some activities aimed at improvement have been interpreted as a form of medical research in which patients are used as subjects. If this interpretation is correct, QI would come under the same complex review and regulatory requirements that have been set up to govern biomedical and other types of research. But is this type of regulation necessary, given what QI involves? Is it the most effective and reasonable way to regulate QI to ensure that it is carried out in an ethical fashion? These are important questions, both conceptually and practically. Thus far, however, relatively few attempts have been made to address QI from an ethical perspective, and the interface between research and quality improvement has not been adequately explored or defined. Federal agencies with responsibilities in this area have disagreed on where the interface between medical research and QI lies and how it should be handled. (See Box 1 for a particularly dramatic example of such a conflict.) The strict ethical rules of oversight, regulation, and patient consent for human subjects research, including the requirement for institutional review board (IRB) approval, have significant implications for the feasibility and cost of pursuing QI activities. More specifically, the mechanism developed to govern ethical conduct in one important area--human subjects research--could have the perverse, if unintended, consequence of interfering directly with an equally important ethical imperative in another area-that is, unceasing efforts by health care professionals to make clinical care safer and more effective. The current state of uncertainty about what is ethically and legally required to safeguard participants in QI activities has already become a disincentive to engage in QI, making it more difficult to bring about the system transformation urgently needed if health care is to be made better and safer for patients. 1. The Pittsburgh ESRD Case In October 2000, a nephrologist coauthored an article about a project to improve the dialysis care delivered to patients in Medicares End Stage Renal Disease (ESRD) program. (1) Some time after the article appeared, the university at which he held a faculty appointment notified him that an audit of faculty publications had identified this project as a quality improvement effort that met the definition of human subjects research but had not undergone IRB review. …

Ethics, Evidence, and Cost in Newborn Screening

When deciding what disorders to screen newborns for, we should be guided by evidence of real effectiveness, take opportunity cost into account, distribute costs and benefits fairly, and respect human rights. Current newborn screening policy does not meet these requirements.

The Cost Effectiveness of Universal versus Selective Newborn Screening for Sickle Cell Disease in the US and the UK: A Critique

We reviewed several cost-effectiveness analyses that modelled the costs and yield of newborn screening for sickle cell disease (SCD) in the US and the UK and discuss the ways in which newborn screening policies in each country evolved with regard to the results of the analyses. Each of the reviewed studies compared the projected cost of universal screening with that of selective screening of children from specific ethnic groups. Despite variability in assumptions, the studies concurred that universal screening in areas with low SCD prevalence would result in a higher cost per case detected, compared with selective screening of children in high-risk ethnic groups. Investigators expressed differing opinions about the economic justification of universal screening, which reflected differences in the understanding of cost effectiveness and in how study questions were framed. Ultimately, policy makers in both countries decided in favour of universal screening, which appears to reflect a growing consensus that ethnically targeted newborn screening is not an acceptable public health strategy. One way to interpret this outcome is that considerations of equity and logistics, including potential stigmatisation, missed cases, and the perceived difficulty and discomfort in ascertaining ethnicity or in separating specimens, trumped economic calculations regarding the relative efficiency of targeted screening. It is not the case that policy makers explicitly favoured equity over economic optimisation; rather, they appear to have given more credence and value to the expert opinion of screening specialists than to the results of economic analyses.

Futility, Autonomy, and Cost in End-of-Life Care:

This paper uses the controversy over the denial of care on futility grounds as a window into the broader issue of the role of cost in decisions about treatment near the end of life. The focus is on a topic that has not received the attention it deserves: the difference between refusing medical treatment and demanding it. The author discusses health care reform and the ethics of cost control, arguing that we cannot achieve universal access to quality care at affordable care without better public understanding of the moral legitimacy of taking cost into account in health care decisions, even decisions at the end of life.

Managed Care Organizations and the Rationing Problem

By and large, neither bioethicists nor economists have offered a satisfactory account of how managed care organizations should ration health care. Both disciplines would like to guarantee adequate care to all without defining adequacy. But it cannot be done. The more we rely on market forces to distribute health care, the more we need a national standard of care.

How Do We Avoid Compounding the Damage

Wojtasiewicz (2006) makes a good case that end-of-life conflict resolution policies based on “fair process” can lead to alienation among marginalized groups, but the article is vague regarding solutions, instead focusing mainly on improving the cultural sensitivity of the process. In implementing fair processes, being culturally sensitive is certainly important, but it is even more important to be substantively fair. Patients have a nearly absolute right to refuse any medical treatment, but they do not have a right to demand any treatment, especially when they are not paying the full cost themselves. Resources are scarce and must be allocated across patients in a fair manner. Limiting beneficial care for cost reasons (rationing) is a necessary task in any healthcare system, and deciding what limits are appropriate is one of the most difficult problems that societies face, especially when the limits pertain to care at the very end of life. Because it is so difficult to decide what constitutes substantive fairness in rationing, many have turned to fair process as a way to set rationing guidelines. This approach makes the most sense at the macro level, where a broadly representative group tries to reach consensus on group priorities for spending scarce collective resources. Even at this level, however, there must be some substantive principles to invoke as people try to think through what priorities would be fair. Within this broad context of setting just limits on beneficial care, it is not unreasonable to allow medical professionals to determine that in some circumstances, the net benefit of treatment is so small and/or so unlikely that providing it is medically inappropriate or futile. The medical profession has always had the primary responsibility for defining the boundaries of what is and is not acceptable medical practice. Patient assessments of the benefits and burdens of treatment

Learning from Clinical Experience

September-October 2008 In this issue of the Report, James Sabin and colleagues consider the ethics of conducting randomized trials in health plans to compare the effectiveness of drugs approved by the Food and Drug Administration that are considered to be in clinical equipoise—there is no consensus among experts that one drug is superior to the others. The authors argue that health plans should publicize the fact that they allow comparative effectiveness trials to be run, but the plans do not have to obtain the individual informed consent of patients. The article’s most important message is that we should be using everyday medical practice as a source of systematic information on treatment effectiveness. Some people who are deeply committed to the protection of the rights of human research subjects find just the thought of conducting a randomized clinical trial without consent profoundly shocking. They should read the article before dismissing cluster randomized trials (CRTs) outright. I admit that I came to the article already believing that we have to make it easier to develop information on effectiveness. Nevertheless, I think readers will find that the authors make a carefully reasoned and ultimately convincing case for the ethical acceptability of their approach. They also report interesting information about attitudes toward CRTs, gleaned from a two-hour discussion of the topic by the ethics advisory group of Harvard Pilgrim Health Care, and over one hundred interviews with patients, clinicians, and health plan leaders. Their approach won’t be easy to implement, however. The health plans have to find drugs that are in equipoise, and the results will be better if it is the right kind of equipoise—if the lack of consensus among experts means that most physicians are undecided about which drug is superior (in “internal equipoise”) rather than committed to the belief that one drug is much better than the others. The trial must be carefully structured to meet statistical requirements. And finally, the health plans must deal with the attitudes revealed in the empirical work. Most of the patients interviewed had great difficulty with the concept of equipoise. They were unaware of the fundamental uncertainty that pervades medical care and didn’t understand how physicians could not know which drug was best. They were also very wary of being included in research. The health plan leaders interviewed worried that patient concerns about being research subjects would affect plan enrollment. They emphasized the novelty of CRT and the need to educate patients and other stakeholders about it. The authors do a good job of explaining why we can’t rely completely on classic randomized controlled trials for information on effectiveness. They describe the variation in everyday practice and explain how it helps to justify the CRT approach. Since randomization makes CRTs controversial, it’s worth noting that there are other ways to learn from clinical experience that do not involve randomization. The randomized trial is not the most common approach used in social science research. Instead, social scientists use a wide variety of statistical methods to learn from data collected on what happens in everyday life. Also, business managers routinely use data on their own operations to optimize organizational performance and cost. The same reasoning used to argue for the ethical acceptability of CRT can be used to justify the use of these methods in health care. The health care system produces large amounts of data on treatments and outcomes, yet we have failed to take maximum advantage of it to make care more effective and efficient. Many factors contribute to this, but one is definitely patient concern about being used as research subjects. Patients fear that their care will be compromised and that they will be put at significant risk in pursuit of some vague future social benefit. Meanwhile, they don’t realize how much uncertainty underlies the practice of medicine and how often clinical decisions have little basis in evidence. As a result, they don’t appreciate how much their own care could be improved through systematic study of the natural experiments reflected in current treatment patterns. The only risk to patients would be from the data use, and this could be kept low with appropriate confidentiality protections. We must educate patients on the value of systematic learning from experience in health care and enlist their cooperation. It would be a shame if their fear of harm from risky research ended up depriving them of the benefits of good management.