In 1996, President Clinton offered a promissory vision for human genetics when he said: “I think it won't be too many years before parents will be able to go home from the hospital with their newborn babies with a genetic map in their hands that will tell them, here's what your child's future will likely be like.”

The rapid evolution of genetic sequencing technologies has advanced that vision. In October 2006, the cost of sequencing an entire human genome was $10.4 million; by 2014 the cost had decreased a thousand fold. The term next generation sequencing (NGS) describes a variety of laboratory methods that allow efficient determination of the precise order of nucleotides in a DNA sequence. The papers in this issue of the Journal of Law, Medicine & Ethics focus on “clinical NGS,” which refers to rapid DNA sequencing using second-, third- and fourth-generation sequencing technologies to perform genome-wide sequencing of multiple genes or alleles for clinical prognostic, diagnostic, and therapeutic purposes.

While the realm of bioethics has traditionally focused on the rights of the individual and held autonomy as a defining principle, public health ethics has at its core a commitment to the promotion of the common good. While these two domains may at times conflict, concepts arising in one may also be informative for concepts arising in the other. One example of this is the concept of a “right not to know.” Recent debate suggests that just as there is a “right to know” information about one's genetic status, there is a parallel “right not to know” when it comes to genetic information that if communicated, could be detrimental to an individual's social or psychological well-being. As new genetic technologies continue to change the nature of genetic testing and screening, it is crucial that normative frameworks to guide and assess genetic public health initiatives be developed. In this context, the question of whether a “right not to know” may also be said to exist for populations on a public health level merits attention.

The Consensus Statement of the Third International Congress on Concussion in Sport in November 2008 defined concussion as a “complex pathophysiologic process affecting the brain, induced by traumatic biochemical forces.” Definitions of concussion vary slightly between various professional organizations of neurosurgeons, neurologists, and orthopedic surgeons, but all share the common characteristics of trauma affecting the head or body resulting in transient neurologic deficits or symptoms. Underlying the symptoms of concussion is a complex pathophysiologic process at the cellular level. While concussion is typically thought of as resulting from a direct impact to the head, a concussion can also be sustained as a result of an impact to the body causing the force of the impact to be transmitted to and absorbed by the brain.

Since the first draft of the human genome was published in 2001, DNA sequencing technology has advanced at a remarkable pace. Launched in 1990, the Human Genome Project sought to sequence all three billion base pairs of the haploid human genome, an endeavor that took more than a decade and cost nearly three billion dollars. The subsequent development of so-called “next generation” sequencing (NGS) methods has raised the possibility that real-time, affordable genome sequencing will soon be widely available. Currently, NGS methods can be used to sequence up to 60 billion base pairs per day. Whole-genome sequencing costs an estimated $5,000-10,000, with that number predicted to fall to $1000 in the near future.

In the past few years, the availability of high-throughput NGS methods has led to a proliferation of potential and actual clinical applications for NGS. NGS therefore has the potential to usher in the long-awaited era of personalized medicine.

This essay describes how longstanding conceptions of professionalism in American medical care came under attack in the decades since the enactment of Medicare in 1965 and how the reform strategy and core provisions of the 2010 Affordable Care Act (ACA) illustrate the weakening of those ideas and the institutional practices embodying them.

The opening identifies the dominant role of physicians in American medical care in the two decades after World War II. By the time Medicare was enacted in 1965, associations of American physicians were almost completely in charge of medical education, specialist certification, and the enforcement of professional norms on their members. Who could be a doctor, what education and training would be required, and what collegial oversight was operative was first a professional matter and only secondly implicated the state through malpractice or major corporations via the employment of physicians.

In the last few decades, great progress has been made in both genetic and genomic research. The development of the Human Genome Project has increased our knowledge of the genetic basis of diseases and has given a tremendous momentum to the development of new technologies that make widespread genetic testing possible and has increased the availability of previously inaccessible genetic information. Two examples of this exponential evolution are the increasing implementation of next-generation sequencing technologies in the clinical context and the expanding commercial offer of genetic tests directly-to-consumers.

Firstly, the rapid development of next generation sequencing technologies (i.e., high-throughput and massively parallel DNA sequencing technologies) has substantially reduced both the cost and the time required to sequence an entire human genome. These technologies are increasingly being used in the clinical setting with the goal of diagnosing conditions of presumed genetic origin that cannot be explained by targeted sequencing approaches.

Concussive injuries to the head and brain are relatively common in the National Football League (NFL). This is not news, since the issue has been covered in many articles in the popular press and many news specials on television. As an NFL offensive lineman for 13 years, I suffered a huge number of hits to the head — an estimated 215,000 at least. Nevertheless, I have fared better than many of the players of my era: many suffered from chronic traumatic encephalopathy (CTE). For example, some of my fellow Hall of Fame players from that era, Mike Webster, Jim Ringo, John Mackey, and Joe Perry, all suffered from CTE and all are now deceased. I count myself lucky that the main malady affecting me after those many blows to the head is a 60% hearing loss in my left ear — probably due to undiagnosed concussions and particularly to thousands of head slaps by defensive players, whose first hit after the snap was often a right-handed blow to the helmet's open hole over my left ear.

Concussion is a form of mild traumatic brain injury (mTBI) that can occur as a result of contact to the head or other parts of the body that causes a rapid acceleration-deceleration force to the brain that may cause a functional disturbance in an individual’s ability to concentrate or learn new information. Contrary to popular belief, it is not a bruise to the brain, and there is usually nothing detectable on standard imaging such as a computed tomography or magnetic resonance imaging. Symptoms and signs are therefore important to detect and include decreased levels of consciousness, headache, nausea, difficulty concentrating, memory loss, and poor coordination. These signs and symptoms usually occur within minutes after the injury but may also appear several hours or even days later.

Clinical next generation sequencing (NGS) is a term that refers to a variety of technologies that permit rapid sequencing of large numbers of DNA segments, up to and including entire genomes. As an approach that is playing an increasingly important role in obtaining genetic information from patients, it may be viewed by public and private payers either positively, as an enabler of the promised benefits of personalized medicine, or as “the perfect storm” resulting from the confluence of high market demand, an uproven technology, and an unprepared delivery system. A number of recent studies have noted that coverage and reimbursement will be critical for clinical integration of NGS, yet the evidentiary pathway for payer decision-making is unclear. Although there are multiple reasons for this uncertain reimbursement environment, the situation stems in large part from a long-standing lack of alignment between the information needs of regulators and post-regulatory decision-makers such as payers.

Many observers claim that business has become a powerful force in medicine and that the future of health care cannot escape that reality, even though some scholars lament it. The U.S. recently experienced the most devastating recession since the Great Depression. As health care costs rise, we face additional pressure to rein in health care spending. We also have important new legislation that could well mark a significant shift in how health care is provided and who has access to care, namely the Affordable Care Act (ACA). These changes underscore the need to bring new thinking to the conversation about health care and to move beyond conceptual and practical obstacles that inhibit our progress.

In this paper we do not to claim to have solutions. Rather, our aim is to try to identify some obstacles to fostering a better conversation about the future of health care and to envisioning a better health care system.

Bioethicists have for quite some time discussed the right to know and the right not to know personal health information, such as genetic information acquired in health care and incidental health-related findings in research. Several international ethical guidelines explicitly defend these rights.

My own interest in these matters stems from my participation in ethics-related research tied to a longitudinal screening study on Type I diabetes involving young children. A few of the participating parents (about 2 percent) did not want to be informed if the study revealed their child had a high risk of developing diabetes. This response was troublesome, not least since the information would concern the child's and not the parents’ health. Our inclination was that there cannot be a right not to know that should be granted without qualifications. Furthermore, other contextual factors, e.g., that parents experienced pressure to participate and felt concern about some of the personal data handled in the study, gave reason to question whether autonomous decisions were made regarding participation. The autonomy of their expressed desire not to know was therefore questionable.