No consensus yet exists on how to handle incidental fnd-ings in human subjects research. Yet empirical studies document IFs in a wide range of research studies, where IFs are fndings beyond the aims of the study that are of potential health or reproductive importance to the individual research participant. This paper reports recommendations of a two-year project group funded by NIH to study how to manage IFs in genetic and genomic research, as well as imaging research. We conclude that researchers (...) have an obligation to address the possibility of discovering IFs in their protocol and communications with the IRB, and in their consent forms and communications with research participants. Researchers should establish a pathway for handling IFs and communicate that to the IRB and research participants. We recommend a pathway and categorize IFs into those that must be disclosed to research participants, those that may be disclosed, and those that should not be disclosed. (shrink)

American Academy of Pediatrics (AAP) and American College of Medical Genetics (ACMG) recently provided two recommendations about predictive genetic testing of children. The Clinical Sequencing Exploratory Research Consortium's Pediatrics Working Group compared these recommendations, focusing on operational and ethical issues specific to decision making for children. Content analysis of the statements addresses two issues: (1) how these recommendations characterize and analyze locus of decision making, as well as the risks and benefits of testing, and (2) whether the guidelines conflict or (...) come to different but compatible conclusions because they consider different testing scenarios. These statements differ in ethically significant ways. AAP/ACMG analyzes risks and benefits using best interests of the child and recommends that, absent ameliorative interventions available during childhood, clinicians should generally decline to order testing. Parents authorize focused tests. ACMG analyzes risks and benefits using the interests of the child and other family members and recommends that sequencing results be examined for additional variants that can lead to ameliorative interventions, regardless of age, which laboratories should report to clinicians who should contextualize the results. Parents must accept additional analysis. The ethical arguments in these statements appear to be in tension with each other. (shrink)

Delivering high quality genomics-informed care to patients requires accurate test results whose clinical implications are understood. While other actors, including state agencies, professional organizations, and clinicians, are involved, this article focuses on the extent to which the federal agencies that play the most prominent roles — the Centers for Medicare and Medicaid Services enforcing CLIA and the FDA — effectively ensure that these elements are met and concludes by suggesting possible ways to improve their oversight of genomic testing.

Biomedical research has always relied on access to human biological materials and clinical information, resources that when combined form biobanks. In the past, it appears that investigators sometimes used these resources with relatively little oversight, and without the consent of the individuals from whom these materials and information were obtained. Several developments in the last ten to fifteen years have converged to place greater emphasis on the role of individual consent in the creation and use of biobanks. The most important (...) by far is the power of information technology, which has transformed our lives in almost every domain. In the research setting, it is now easy to abstract information from electronic medical records. Computers make it possible to analyze enormous datasets and have contributed in essential ways to the dramatic increases in our understanding of genomics and other areas of biomedical science. (shrink)

In the spirit of full disclosure, I have been a member of the Delphi panels discussed in this article (Beskow and Weinfurt 2019) since their inception and was one of the people who was recently int...

Biomedical research has always relied on access to human biological materials and clinical information, resources that when combined form biobanks. In the past, it appears that investigators sometimes used these resources with relatively little oversight, and without the consent of the individuals from whom these materials and information were obtained. Several developments in the last ten to fifteen years have converged to place greater emphasis on the role of individual consent in the creation and use of biobanks. The most important (...) by far is the power of information technology, which has transformed our lives in almost every domain. In the research setting, it is now easy to abstract information from electronic medical records. Computers make it possible to analyze enormous datasets and have contributed in essential ways to the dramatic increases in our understanding of genomics and other areas of biomedical science. (shrink)

The law applicable to genomics in the United States is currently in transition and under debate. The rapid evolution of the science, burgeoning clinical research, and growing clinical application pose serious challenges for federal and state law. Although there has been some empirical work in this area, this is the first paper to survey and interview key scientific and legal stakeholders in the field of genomics to help ground identification of the most important legal problems that must be solved to (...) successfully integrate genomics into clinical care. The respondents in this study identified a wide range of interconnected issues, focusing specifically on the need for clear guidelines about how to use these data, fear of liability for those who use these data, and the need to protect patients from use of this information particularly by insurers, while endorsing data sharing. Developing legal strategies to support appropriate use of genomics now and in the future clearly will require making trade-offs, taking into account the full complexity of this legal ecosystem. (shrink)

This article provides practical guidance for researchers who wish to enroll and collect data from pediatric research participants through online and mobile platforms, with a focus on the involvement of both children and their parents in the decision to participate.

Despite calls by some commentators for disclosing incidental fndings in genetics research, several factors weigh in favor of caution. The technology of genetics has the power to uncover a vast array of information. The most potent argument for restraint in disclosure is that much research is pursued without consent so that the individual participant may not know that research is being conducted at all. Often the work is done by investigators and at institutions with which the person has no prior (...) contact. Past practice is also relevant; genetics researchers historically have chosen not to disclose incidental fndings, of which misattributed paternity and pleiotropic alleles such as ApoE have been the most common. Many people choose not to have genetic tests when given a choice. It may be desirable to discuss the topic of incidental fndings when consent for research is obtained, but given the risk of unwanted surprise when there has been no prior discussion, the potential utility of incidental fndings should be very high before they are even ofered to individuals. (shrink)

There are countless variations on this theme. The call can come from one of your own physicians who was called by the investigator. Your physician may or may not be well informed on what the reported finding about Disease Y means or how to respond. DNA testing can reveal more than susceptibility to disease. People can learn that they do not have the biological connections — parentage or evidence of ethnic origin — that they thought they did.Colleagues who serve on (...) the Institutional Review Board in my institution tell me that they currently do not permit “cold calls” of the type portrayed in the opening paragraph. Such direct contacts have, however, occurred in the past, with or without the blessing of an IRB. Sharing findings with the individual’s physician, who is then supposed to serve as a learned and wise intermediary, is not without problems either, given that many physicians understand little about complex genetics. Yet the very existence of this project on managing incidental findings in research demonstrates that some people believe that some research findings ought to be available to participants. (shrink)

While the NSIGHT program was driven by a desire to define and gather data about both the benefits and harms of introducing genomic sequencing into the care of newborns, it remains to be seen how much influence these data will have in shaping the use of this technology in newborns. Ultimately, three additional forces—commercial interests, the technological imperative, and advocates—may play a significant role in shaping the use of sequencing in newborns. Policy‐makers and clinicians should be aware of the effects (...) of these additional forces when considering the appropriate use of this technology in clinical practice and public health screening programs. (shrink)

Adolescents may often have opinions about whether they want genetic and genomic testing in both the clinic and research and about who should have access to the results. This legal analysis demonstrates that the law provides very little protection to minors' wishes.

Parents, providers, policy makers, and the public need to talk about the implications of advances in genomic technologies for state run newborn metabolic screening programs. Technologies, such as highly multiplex testing and whole genome sequencing, are raising old issues with new urgency and are posing new challenges that threaten to overwhelm newborn screening programs.Newborn screening programs in their current form were born in the late 1960s. Robert Guthrie developed a screening test for phenylketonuria that could be performed on blood spots (...) collected on filter cards that Guthrie also developed. States rapidly established newborn screening programs, which were almost always mandatory, in response to advocacy by geneticists and parents. Although the programs initially varied in form and experienced significant pushback from the medical community, by the early 1970s, all states had established programs with centralized laboratories, and the medical community had come on board. (shrink)

Parents, providers, policy makers, and the public need to talk about the implications of advances in genomic technologies for state run newborn metabolic screening programs. Technologies, such as highly multiplex testing and whole genome sequencing, are raising old issues with new urgency and are posing new challenges that threaten to overwhelm newborn screening programs.Newborn screening programs in their current form were born in the late 1960s. Robert Guthrie developed a screening test for phenylketonuria that could be performed on blood spots (...) collected on filter cards that Guthrie also developed. States rapidly established newborn screening programs, which were almost always mandatory, in response to advocacy by geneticists and parents. Although the programs initially varied in form and experienced significant pushback from the medical community, by the early 1970s, all states had established programs with centralized laboratories, and the medical community had come on board. (shrink)

The empirical literature exploring lawyers and their moral decision making is limited despite the “crisis” of unethical and unprofessional behavior in the bar that has been well documented for over a decade. In particular we are unaware of any empirical studies that investigate the moral landscape of the health lawyer’s practice. In an effort to address this gap in the literature, an interdisciplinary team of researchers at Vanderbilt University designed an empirical study to gather preliminary evidence regarding the moral reasoning (...) of health care attorneys. The primary research question was how health lawyers respond when they encounter ethical or moral dilemmas in their practice for which the law fails to offer a bright-line solution. In exploring this question, we sought to understand better what motivations or influences guide action when health lawyers confront ethical quandaries, and whether there are specific differences, e.g., gender, experience, or religiosity, that are associated with specific responses to situations testing ethical or moral boundaries. (shrink)

Genetics offers real opportunities for public health actors. Increased understanding of genetics will illuminate some of the factors that affect disease and, in many cases, will lead to more effective treatments. The recognition that phenylketonuria was caused by a metabolic defect that led to the accumulation of toxic levels of phenylalanine, an elevation that could largely be averted by adopting a low-phenylalanine diet, is an early example. Some cases of what was thought to be Sudden Infant Death Syndrome, a diagnosis (...) used when no etiology is known, now appear to have been caused by metabolic defects in fatty acid oxidation and sodium channel defects. One of the tasks that has already been undertaken by the public health sector is to ensure that genomic information is incorporated into clinical care when the robusmess of findings and their clinical utility have been well defined. (shrink)

Aircraft with increasingly high performance were important to the war effort in World War II. Changes in technology allowed aircraft to reach faster speeds and to complete missions at higher altitudes. With these changes came new obstacles for pilots who had to tolerate these stresses. Of primary concern to the U.S. War Department was the loss of consciousness that often occurred with high-speed maneuvers and especially during pull-up after dive-bombing missions. In some cases, pilots would experience up to 9G of (...) force during rapid ascent, much more than the 6G threshold that typically leads to loss of consciousness. In 1941, a research team in Red Wing, MN, proposed experiments to elucidate the mechanism .. (shrink)

Genetics offers real opportunities for public health actors. Increased understanding of genetics will illuminate some of the factors that affect disease and, in many cases, will lead to more effective treatments. The recognition that phenylketonuria was caused by a metabolic defect that led to the accumulation of toxic levels of phenylalanine, an elevation that could largely be averted by adopting a low-phenylalanine diet, is an early example. Some cases of what was thought to be Sudden Infant Death Syndrome, a diagnosis (...) used when no etiology is known, now appear to have been caused by metabolic defects in fatty acid oxidation and sodium channel defects. One of the tasks that has already been undertaken by the public health sector is to ensure that genomic information is incorporated into clinical care when the robusmess of findings and their clinical utility have been well defined. (shrink)

Writing in 1999, legal ethics scholar Brad Wendel noted that “[v]ery little empirical work has been done on the moral decision making of lawyers.” Indeed, since the mid-1990s, few empirical studies have attempted to explore how attorneys deliberate about ethical dilemmas they encounter in their practice. Moreover, while past research has explored some of the ethical issues confronting lawyers practicing in certain specific areas of practice, no published data exists probing the moral mind of health care lawyers. As signaled by (...) the creation of a regular column “devoted to ethical issues arising in the practice of health law” in the Journal of Law, Medicine & Ethics, the time to address the empirical gap in the professional ethics literature is now. Accordingly, this article presents data collected from 120 health care lawyers. Presenting this population with a number of hypothetical scenarios relating to how they would respond when confronting an ethical dilemma without an obvious solution or when facing a situation in which their personal values were in tension with their professional obligations, this article represents a first step toward better understanding how lawyers who practice in health care settings understand and resolve the moral discomfort they encounter in their professional lives. (shrink)

The promises of precision medicine are often heralded in the medical and lay literature, but routine integration of genomics in clinical practice is still limited. While the “last mile” infrastructure to bring genomics to the bedside has been demonstrated in some healthcare settings, a number of challenges remain — both in the receptivity of today's health system and in its technical and educational readiness to respond to this evolution in care. To improve the impact of genomics on health and disease (...) management, we will need to integrate both new knowledge and new care processes into existing workflows. This change will be onerous and time-consuming, but hopefully valuable to the provision of high quality, economically feasible care worldwide. (shrink)

The term duty is used in philosophy and law to de scribe the obligation one person owes to another. Yet what these two disciplines mean by duty often differs. Perhaps even more important, a determination by the law that a duty exists has different social consequences than does a similar assessment by philosophy Moral or ethical obligations between individuals make living in society possible, but breach of these obligations usually results only in social opprobrium, personal guilt, or shame. A legal (...) duty, by contrast, enables a person to use the power of the state to enforce claims against another, either by injunction to make the duty-ower fulfill his/her responsibilities or more commonly by award of damages in the event the duty-ower fails to meet these obligations. In some cases, society itself chooses to impose criminal penalties on those who fail to meet certain important obligations.The use of the term duty in both disciplines creates the temptation to extend a definition formulated in one setting to the other discourse. Ronald Green does not bite this apple, but his efforts to draw on the law to support his moral arguments, while not clearly identifying the distinctions between legal and moral obligations, may make it easier for others to see moral and legal duties as the same. Yielding to the enticement to equate moral and legal duties can lead to a host of difficulties. My purpose here is to demonstrate why the duties and privileges proposed by Professor Green are not and should not be adopted and enforced by the law. (shrink)

The term duty is used in philosophy and law to de scribe the obligation one person owes to another. Yet what these two disciplines mean by duty often differs. Perhaps even more important, a determination by the law that a duty exists has different social consequences than does a similar assessment by philosophy Moral or ethical obligations between individuals make living in society possible, but breach of these obligations usually results only in social opprobrium, personal guilt, or shame. A legal (...) duty, by contrast, enables a person to use the power of the state to enforce claims against another, either by injunction to make the duty-ower fulfill his/her responsibilities or more commonly by award of damages in the event the duty-ower fails to meet these obligations. In some cases, society itself chooses to impose criminal penalties on those who fail to meet certain important obligations.The use of the term duty in both disciplines creates the temptation to extend a definition formulated in one setting to the other discourse. Ronald Green does not bite this apple, but his efforts to draw on the law to support his moral arguments, while not clearly identifying the distinctions between legal and moral obligations, may make it easier for others to see moral and legal duties as the same. Yielding to the enticement to equate moral and legal duties can lead to a host of difficulties. My purpose here is to demonstrate why the duties and privileges proposed by Professor Green are not and should not be adopted and enforced by the law. (shrink)