In an op-ed published in yesterday’s New York Times, actress Angelina Jolie publicly shared her experience of undergoing a bilateral mastectomy after learning she carries a mutation in the BRCA1 gene.   In a straightforward and measured tone, Ms. Jolie recounted the details of her genetic diagnosis and treatment while emphasizing the personal nature of her decision to undergo surgery.   At face value, Ms. Jolie’s circumstances do not mirror those of a “typical” person at increased risk of hereditary breast and ovarian cancer (HBOC).  A closer look at the complexity involved in BRCA1 and BRCA2-related cancer risk assessment suggests there may be no such person.  Beyond its value as an act of solidarity towards other women at risk for HBOC, Ms. Jolie’s decision to share her story may serve others by drawing attention to the many ethical and policy challenges facing the field of medical genomics today.

Women with cancer-predisposing mutations BRCA1 and BRCA2 are five times more likely to develop breast cancer over their lifetimes and are also at a substantially increased risk of developing ovarian cancer compared to members of the general population.  Considerable so-called “normal” sequence variation is also seen in the BRCA1 and BRCA2 genes of individuals who are not at increased risk of developing these cancers, posing a challenge to laboratories trying to determine which sequence changes in the genes are cancer predisposing and which are not.  While several common mutations in the BRCA1 and BRCA2 genes are more prevalent in certain ethnic groups, such as Ashkenazi Jews, hundreds of distinct cancer-predisposing mutations have been identified in these genes across all ethnic groups.

For individuals like Ms. Jolie who carry one of these mutations, it remains impossible to predict when in their lives they are most likely to develop cancer.  For reasons that are poorly understood, some mutation carriers will develop multiple primary tumors before they reach age 50, while other carriers of the same mutation may remain cancer-free into their 70s.  This means that even those with a clear genetic test result face alarming uncertainty when weighing their management and treatment options, which include elevated screening, chemoprevention, and prophylactic mastectomy and/or oophorectomy.  While pre-emptive surgeries can dramatically reduce a mutation carrier’s lifetime cancer risk, there is no consensus regarding the optimal timing of these drastic procedures or best practices for long-term follow-up afterwards.  This is concerning in light of findings from a recent study in which 31% of surveyed primary care providers claimed to offer BRCA1 and BRCA2 testing to adolescents “unconditionally,” despite practice recommendations that advise against doing so.

Mutation carriers must weigh the uncertain pros and cons of screening and treatment options in the face of a terrifyingly high, yet temporally imprecise, risk of developing cancer. This situation requires tradeoffs involving deep emotional reflections of the kind Ms. Jolie so bravely voiced in her op-ed.  When reading her story, it is important to remember that women (and men) undertake BRCA 1 and BRCA 2 testing at many different stages of their lives and under a variety of personal circumstances.  Numerous contextual factors drive individual decisions about when to be tested and what actions to take in light of any genetic result.  Whether or not one has a family history of cancer, is a parent, has intimate relationship(s), has health insurance, is financially secure, or is mentally healthy, the process that begins with a conversation about genetic testing can evolve into a meandering emotional journey in which rational assessments of risk and benefit play merely supporting roles.

Ms. Jolie rightly points out that the high cost (~$3,000) of BRCA1 and BRCA2 testing prohibits access for many women (and men) in the United States.  As the sole U.S. provider of this testing, Myriad Genetics Laboratories is presently the subject of legal scrutiny as questions over the constitutionality of its gene patents are being reviewed by the Supreme Court.  Yet test price inflation is only one potential hazard of Myriad’s monopoly on the BRCA1 and BRCA2 tests.  A broader concern is that assessing the clinical significance of genomic information requires widespread access to data about DNA sequence variants and clinical information about all the individuals who have been tested.

In an estimated 3% patients who undergo BRCA1 and BRCA2 testing, Myriad is unable to classify a patient’s specific BRCA1 or BRCA2 sequence variant as either ‘cancer-predisposing’ or ‘normal’.  For those without access to Myriad’s proprietary variant database, this proportion may be as high as 20%.   For individuals with a family history of breast or ovarian cancer, the decisional uncertainty following an ambiguous test result can be excruciating.

Since relatively little is known about the ‘normal’ range of BRCA1 and BRCA2 sequence variation in ethnic minorities, particularly African Americans (a knowledge deficit exacerbated by their lower rates of access to genetic testing), the burden of this uncertainty falls disproportionately on members of minority groups.  Irrespective of the Supreme Court ruling on the Myriad case, the data and algorithms used to calculate disease risk from human genomic data cannot remain in siloed proprietary databases if the fruits of genomic technologies are to be made fairly available to all.  While policies compelling commercial laboratories to share genetic variant data by making test reimbursement contingent on such behavior have been proposed, they have not gained sufficient traction in U.S. policy discussions about the future of genomic testing.

Ms. Jolie was motivated by compassion and altruism to share her story with the public.  Yet many women and men in similar situations are hesitant to disclose their genetic risk status, even to loved ones, for fear of discrimination if results fall into the wrong hands.   While the 2008 Genetic Information Non-Discrimination Act (GINA) prohibits employers and health insurance companies from using genetic test data to make employment and coverage-related decisions, the law does not apply to life or long-term care insurance.  Nor does it protect military service members or Indian Health Service beneficiaries. Few members of the general public are aware of GINA and there is little evidence that the rule has been effective in reducing the stigma associated with disclosing and sharing genetic information.

It is important to remember that the majority of breast and ovarian cancer, even hereditary forms, is attributable to genetic and environmental causes other than mutations in BRCA1 and BRCA2.  Genetic testing is not indicated in everyone with a family history of cancer, and careful family history assessment must precede genetic testing to minimize the risk of adverse outcomes of inappropriate testing, which include inaccurate medical recommendations and unnecessary healthcare spending.  Insurance coverage and eligibility criteria for genetic testing and counseling remain inconsistent and genetic counseling is not on the Centers for Medicaid and Medicare (CMS) list of covered healthcare services.  Despite this, financing and service delivery reforms to improve quality of and access to genetics services specifically are not among the goals of any healthcare innovations authorized under the 2010 Patient Protection and Affordable Care Act.  PPACA demonstration projects at the state level have the potential to correct this oversight.

Angelina Jolie deserves our compassion and respect for sharing her journey in the hope of helping others.  Those of us who work in bioethics and health policy should feel compelled by these sentiments to seek policy changes that will make meaningful and informed decisions like hers a plausible reality for all who must confront such difficult circumstances.

Leila Jamal is a genetic counselor at the Kennedy Krieger Institute and a doctoral candidate in Bioethics and Health Policy at the Johns Hopkins Berman Institute of Bioethics.

Advocates of Medicaid expansion seemingly experienced a setback this week.  A study in the New England Journal of Medicine (NEJM) casts doubt on whether increased access to Medicaid results in better health outcomes, and media on both sides of the aisle have been quick to spin the results.  Does the study ‘shatter liberal health care claims’?  Were the mental health outcomes astoundingly positive?  Or is it simply an opportunity to take ideological advantage?

From a bioethics perspective, the answer may be none of the above.  Instead the study and its response serve as a reminder: Facts seldom speak for themselves, and clarifying the values at stake in a policy debate can be critical to translating facts into policy-relevant conclusions.

In the study, individuals eligible for Oregon’s Medicaid program, the Health Plan Standard, were selected by lottery in 2008 to come off a waiting list and given the opportunity to enroll in the plan. Over the next two years, researchers followed individuals who gained access to the plan and compared their health outcomes, financial burdens and perceived quality of life.  Some public health experts lamented the necessity and permissibility of such a study, which only seems possible in countries where access to health care is not assured to all citizens.  All things considered, however, the rigorous study design and its conduct allow evaluation of this harsh reality.

On one hand, the researchers found that individuals selected in the lottery to gain access to Medicaid reported decreased financial strain, perceived their health as improved and experienced less depression.  They also gained access to health care, and as a result utilization (and hence cost) increased compared to the control group.  On the other hand, Medicaid access did not improve the diagnosis or control of high blood pressure or high cholesterol, nor increase the use of medications to treat these conditions and did not result in improved control of diabetes.  In other words, aside from depression, access to Medicaid did not improve these “hard” health outcomes.

So is access to health insurance – in this case, Medicaid in Oregon –good for you?

Advocates of expansion will no doubt answer the question affirmatively and be quick to point out the study’s limitations.  As the authors themselves note, the study was limited by including a relatively small number of individuals with high blood pressure, high cholesterol and diabetes, and by its short duration. As a result, some clinically-significant changes (for example, improved control of diabetes) were not statistically significant, even though they were in the positive direction. Many clinicians might consider the average period of coverage (17 months) as short for achieving meaningful control of diabetes.   An accompanying editorial in NEJM similarly points out the limited number of important outcomes, which did not include early cancer detection, and the complex socioeconomic factors that influence health outside of basic access to care, which were beyond the study’s scope.

Such important details become lost in debate over Medicaid expansion.  More importantly, focusing on them diverts attention from what is undoubtedly contributing to the disagreement: fundamental differences in ethical values.

For example, deciding whether to focus on so-called hard outcomes (such as cholesterol levels) rather than improved quality of life is not just a question of fact.  It is also one of competing ethical values. How do we value and weigh perceived life quality?  Is this value incommensurable with health outcomes and cost? To translate these data into policy requires a judgment about ethical values – both which ones to include in the decision, and how to weigh them.  Complicating this, the data on which policymakers base decisions will, like this study, always be imperfect and incomplete.

At a deeper level, access to health insurance represents more than access to care, protection of financial assets and improved health outcomes; these may be the goals of health insurance, but its effects are broader.  A society that allows some, but not all, of its members access to health insurance takes a stance on fairness, or what a “just society” looks like.  Fairness as an ethical value is therefore the main ethical value at stake.

Many advocates of Medicaid expansion probably believe that fairness requires ensuring that all individuals have access to health care.  They probably believe this as a matter of respect or dignity for all persons, meaning that — independent of its health-related effects — ensuring equal access for all is required of a just society.  Rather than allow a justice-based claim to rise and fall with an ever-shifting and incomplete tide of empirical data, perhaps they should stabilize their cause with the ballast of fairness as a fundamental ethical value.

Is access to health insurance good for you?  The answer depends on what we count as “good” and which “goods” government policies promote.

Matthew DeCamp, MD, PhD, is a post-doctoral fellow in General Internal Medicine and the Greenwall Fellowship in Bioethics and Health Policy at the Berman Institute.  His current research interests include global health (including ethical issues in short-term global health training programs); medicine 2.0 and medical professionalism; and health and human rights with a focus on essential medicines.  He also sees patients in general internal medicine.

Utah recently became the first state to explicitly permit general prisoners – not death-row inmates – to donate their organs if they die while incarcerated. Should more states have laws like this? Should prisoners be allowed to make live donations to people other than family members? And with nearly 118,000 people in the U.S. waiting for hearts, kidneys, livers and other life-saving transplants, why not include death-row inmates?

Read the Discussion »

DEBATERS

With the Right Safeguards, the Utah Law Is Fine

RUTH FADEN, JOHNS HOPKINS BERMAN INSTITUTE OF BIOETHICS

One huge concern: this new law appears to leave open the possibility that death-row inmates could request to be executed by removal of their vital organs.

The Incarcerated Are Too Vulnerable to Consent

LAWRENCE O. GOSTIN, GEORGETOWN UNIVERSITY

Despite rules that organ donations should not affect prisoner conditions, inmates will believe otherwise. Free consent is not truly possible under coercive conditions.

Let Those of Us in Prison Give Life to Others

SHANNON ROSS, INMATE, STANLEY CORRECTIONAL INSTITUTE

The reasons that people cite for not allowing prisoners to donate organs are careless exaggerations that have become obsolete because of medical advancement.

We Must Draw the Line on Death-Row Inmates

AMY L. FRIEDMAN, TRANSPLANT SURGEON

As surgeons, we must avoid conflicts of interest and consistently say, “No, thank you” to organ donation from a prisoner who has been executed.

Let Prisoners Donate Their Organs

SALLY SATEL, AMERICAN ENTERPRISE INSTITUTE

If healthy inmates are sincerely motivated to donate, fully educated about the risks and receive no special treatment in return, how are they not acting voluntarily

It’s Better to Focus on Other Donor Initiatives

BETH PIRAINO, NATIONAL KIDNEY FOUNDATION

Numerous concerns are raised when prisoners wish to donate to strangers, including whether they have access to appropriate medical care after the surgery

The New York Times editorial board recently excoriated a randomized clinical trial investigating optimal oxygen levels for premature babies, describing its consent form as “startling, and deplorable.” The advocacy group Public Citizen described the trial as “highly unethical.”  The ethical issues raised by the study, the Surfactant, Positive Pressure, and Oxygenation Randomized Trial, or SUPPORT, are far more subtle, far less dramatic, and much more complex than that editorial suggests. Here we consider two of them.

First, did the SUPPORT study place these extremely premature babies at additional risk, and if so, was that additional risk within ethically acceptable limits?  In this case, ‘additional risk,’ means risk above what could reasonably be expected from the care they would otherwise receive in the neonatal intensive care unit (NICU). In standard practice, NICU monitors that continuously analyze blood oxygen level are programmed to alarm each time an infant’s level falls outside 85%-95%, a range set by the American Academy of Pediatrics.

Some have suggested that the infants in the SUPPORT trial were deprived of individualized medical care, implying that goal oxygen levels in regular practice are uniquely tailored for each individual infant.  In routine medical care, oxygen levels are not uniquely tailored to individual infants, with certain exceptions, like those born with heart malformations.  Most infants are treated—as were all of the infants in the SUPPORT trial—to keep oxygen levels within the standard range.  It is true that SUPPORT study investigators had the hypothesis, based on prior research, that treating babies in the lower portion of the range might result in fewer cases of severe retinopathy, a potentially blinding eye disorder, and lower rates of death related to oxygen toxicity. But there were also reasons to be concerned that too little oxygen might be problematic for at least some babies.

It was this uncertainty about how best to adjust the oxygen range that prompted both the SUPPORT study, and also the clinical practice of keeping babies within the 85%-95% parameters.  As the SUPPORT study operated within this standard, the risk was ethically acceptable and arguably no greater than what the babies were otherwise facing.  Although some might argue it was reasonable at the time to suspect that the children in the higher range faced higher risk than if they received standard care in the full 85% to 95% range, it was equally reasonable at the time to view any such suspicion as being on tenuous grounds. And as it turned out, and this is commonplace in clinical research, the results of the study were just the opposite of that suspicion – babies in the higher range turned out to be at lower risk than babies in the lower range.

The second ethical concern is whether parents were adequately informed before consenting to the SUPPORT trial. It is standard practice in NICUs across the country not to ask parents’ permission before their babies are exposed to oxygen levels within the standard of care of 85-95%. The question then seems to be whether standards for consenting to participate in a study of standard medical care should be more stringent than standards for consenting to receive standard medical care.  This is a crucial question that must be answered in order to proceed with comparative effectiveness research, an area of inquiry that focuses on weighing the pros and cons of treatments that are already approved for use and being used for many patients.

The SUPPORT trial and the controversy surrounding it may not be the best example for analyzing this critical question, however.  What is at stake in an ICU is nothing short of life and death.  Desperate parents are often just learning what their babies, and they, are up against.  Involving parents in decisions affecting their babies’ prospects is very difficult to do and must be undertaken with the greatest care, in research and in clinical practice.  In such contexts, it is critical that there be a high degree of confidence that the research (or the clinical course of action outside of research) is ethical and the risks are acceptable.  In the case of the SUPPORT study, OHRP raised no questions about the ethically acceptability of the research design or its riskiness. OHRP’s censure was restricted to the consent form, which the agency found to inadequately describe “foreseeable risks and discomforts.”

Treatments in the intensive care unit always entail risk.  To treat life-threatening infections, we may need to use an antibiotic that could cause deafness.  Ventilators can save babies born too prematurely to breathe on their own, but over time may cause damage to lung tissue that could persist for years.  Oxygen can protect the developing brain, but may damage the developing eye.  ICU patients receive dozens of simultaneous therapies that have the potential for benefits and risks.  ICU clinicians are trained to perform the complex calculus to balance these risks and benefits in light of the fact that the patient may die without these therapies.

Careful review of the science and ethics of medical research is essential to the process of maximizing knowledge while minimizing risk, especially for particularly vulnerable populations.  Evidence-based medicine depends on information gained from large medical research studies.  Reports and editorials in the press that sensationalize and misrepresent the facts of medical research unfairly paint the entire field with a broad brush of suspicion and distrust.  The result is a disservice to us all.  Everyone needs medical care at some point; without well-designed research, the medical care we receive will be entirely subjective.  Clinicians make better decisions with results of large studies, carefully analyzed, to guide them.  Patients are more likely to survive.

Renee Boss, MD is an assistant professor in the Division of Neonatal-Perinatal Medicine at Johns Hopkins Hospital and a faculty member of the Johns Hopkins Berman Institute of Bioethics. She is a member of the Johns Hopkins Hospital Ethics Committee.

Ruth Faden, PhD, MPH is the Wagley Professor of Biomedical Ethics and Director of the Johns Hopkins Berman Institute of Bioethics.  She is the co-author of Social Justice: The Moral Foundations of Public Health and Health Policy.

The American College of Physicians (ACP) and the Federation of State Medical Boards (FSMB) have just issued a policy statement, “Online Medical Professionalism.” This sort of guidance is timely and needed. I appreciate their enthusiasm for online technologies as a tool with the power to “positively affect the health of communities”, and I think that encouraging ‘self-auditing’ pushes in the right direction, though, I’d encourage enhancing one’s footprint via engagement over an occasional self-google.

Unfortunately, I also think there are serious problems in how the ACP and FSMB have framed the challenges and their positions.

Let’s start with position 2: The boundaries between professional and social spheres can blur online. Physicians should keep the two spheres separate and comport themselves professionally in both.

I haven’t seen any particularly compelling evidence that the challenges of managing our lives online are very different from those we find in the world we continue to inhabit outside of online communications. Physicians (and other professionals and non-professionals and professional athletes and probably everyone) already have experience with managing their professional and personal identities/spheres. This is not new terrain, and any differences between public activities online and public activities elsewhere are trivial. So, for example, posting drunken photos or racist tweets is not meaningfully different from any other drunken, ranting, public spectacle.

The response I expect here is—wait, there it is in position 5: “But, ‘The reach of the Internet and online communications is far and often permanent…’”  This seems like a common claim in support of the uniqueness of life online.  I’m not sure if it has been empirically tested, but it’s increasingly irrelevant. Even if this claim was true, the use of smart phones, other mobile devices, and social media is near ubiquitous – meaning that activities in public are all potential content for sharing via social media through photos, videos, blog posts, SMS, tweets, etc.  So, drunken, ranting, public spectacles are increasingly likely to be witnessed both in-person and shared online.

Returning to position 2, I am convinced that the claim – physicians should keep professional and personal spheres separate – is, for all practical purposes, impossible. Putting on my low-rent, pop-philosopher hat, I’d argue that this is a problem, since, as real philosophers put it, ‘ought implies can’.

I think it’s more realistic and helpful to view professional and personal identities as existing on a continuum. It’s not that they are indistinct, but rather that they are always connected to varying degrees. Roles played by individuals can fall mostly within one sphere or another, or they can reside gray space in between.

Let’s look at Ben Carson’s recent experiences in expressing his personal/political views in a variety of venues. Starting with brief and relatively benign comments about health care reform and taxation at a prayer breakfast and continuing up through his offensively-framed and poorly-received comments about gay marriage, Carson has ‘enjoyed’ a fair amount of media attention while sharing his political views (as an aside, the ‘political’ sphere may be subsumed within the personal sphere, but I suspect it’s yet another interconnected sphere to consider in policy statements).

Carson was set to be this year’s commencement speaker for the Johns Hopkins School of Medicine. A blend of gossip, traditional and social media fueled debates about whether he should continue in this role despite his comments. Some students launched a Facebook-based petition for his removal from the program.

Hopkins tried to put an end to the controversy by releasing an apology from Ben Carson and a letter from Paul Rothman, Dean of the School of Medicine at Johns Hopkins, Rothman labels Carson’s comments as ‘offensive’ and ‘inconsistent with the culture of our institution,’ and then gets to the crux of the problem:

“Dr. Carson is well known for his accomplishments as a neurosurgeon and for his contributions to the Baltimore community. While his recent comments are inconsistent with our core values, Dr. Carson has the right to participate in public debates and media interviews and express his personal opinions on political, social and religious issues. We strongly value freedom of expression and affirm Dr. Carson’s right, as a private citizen, to state his personal views.”

Reading between the lines, I take this to say, “personal and professional spheres are different but hopelessly entangled.” And, I think the entire experience demonstrates: 1) it no longer makes any sense to separate online communication from other modes. Some of Carson’s comments were delivered at public events, some on broadcast TV. Subsequent debates them happened in person and via newspapers, tv, social media. It’s all hopelessly entangled, and 2) it is not possible to separate between professional and personal identities. Carson was expressing his personal views, yet these immediately had an impact on aspects of his professional life. It’s all hopelessly entangled.

In light of this, a better formulation of position 2 would be something like: “professional and personal spheres can never be completely separated. Physicians (and others) should keep this in mind while navigating their lives, both online and off.” Position 2 tacitly acknowledges this fact in exhorting physicians to comport themselves professionally in both spheres.

I’m not going to resist the urge to unfairly lob a few more criticisms of the new policy on my way out the door. I think position 3 is short-sighted and wrong.  While I appreciate concerns about inappropriately overextending existing technologies, I don’t see any compelling argument for why physician-patient relationships could never be established electronically. The clinical use of electronic communications should, instead, be bounded by technical capacities. Also, as a colleague helpfully pointed out, insufficient attention is paid to the challenges related to conflicts of interest. These both merit more discussion – another time, perhaps.

After all of this, I wonder if physicians might not have been better served through a simple reference to the time-tested axiom for online behavior, Wheaton’s Law.

Alan Regenberg, MBe, is the Bioethics Research Manager at the Johns Hopkins Berman Institute of Bioethics. He is currently developing and implementing strategies to use social media as a tool for broad public engagement around issues in bioethics. You can follow him  @bermaninstitute or, using his inside voice, @aregenberg.

A version of this article is posted on the Huffington Post

We rely on medical professionals for advice, both in terms of acute medical conditions (the prescription of antibiotics to cure infection) and more general healthy-lifestyle choices (smoking is bad for you, don’t eat McDonald’s for breakfast, lunch and dinner). However, doctors don’t always follow their own advice. We can all think of examples of doctors who drink, smoke, scarf down too many cheeseburgers, and some who do all three. Jesus tells us, “physician, heal thyself,” and perhaps he is right. Do our physicians have some type of obligation to lead by example? Or are their words enough?

On the face of it, this might seem to be a relatively simple issue. All human beings are entitled to some measure of autonomous agency (how much, and under what circumstances, is obviously up for debate). People generally seem to agree that rational, fully-functioning adults should be allowed to make their own choices regarding perfectly legal behavior. We don’t think a smoking lawyer or a morbidly obese postman have these obligations to live healthily. We might not endorse their behavior on a personal level, but as a society we realize that those choices are theirs to make.

All of this is a roundabout way of asking, so what is the big deal about doctors? If the lawyer can light up and the postman can enjoy a regular hot grease injection, why not our local GP? If anything, being a doctor involves at least as much stress and pressure as being a postman or a lawyer. Dealing with life and death on a daily basis (at least to some measureable degree) arguably puts undue pressure on a person and, because our vices may be nothing more than a simple pressure-release valve for accumulated stress, perhaps it makes sense to not question a doctor’s unhealthy choices.

However, medical professionals are unique in another way. We rely on the truth of their advice. Indeed, they are licensed to dispense medical advice. We might trust our postman to deliver our letters, but if we have a question about a newly-detected lump, broken bone, or our weight, we would be better off seeking the counsel of one who is licensed to dispense medical advice. There is an implicit — and hopefully correct — assumption that goes along with the dispensation of this advice, namely that those giving it know what they are talking about. Now, while smoking, or drinking, or eating junk food are not automatically indicative of a lack of knowledge, they do foster a certain disconnect.

There is something particularly interesting about the form that such a disconnect takes. If we see a doctor with a lit cigarette we don’t automatically assume that he or she isn’t a capable professional. Rather, we assume that the doctor in question knows the risks of smoking — probably better than most — and yet still chooses to smoke. This is a dangerous — albeit predictable — conclusion to reach.

We know that medicine requires more graduate education than most professions. We know that it requires dedication, intelligence and the application of reason. It is because of this knowledge that our assumption is that the educated, intelligent, driven, and smoking professional in front of us is able to assess risk at least as well — and probably much better — than we can. This disconnect does not come from a lack of appreciation for the doctor, it comes from an over-appreciation. It’s easy to imagine that such an endorsement is, if anything, stronger than those handed out so freely by movie stars, musicians, and the more predictable poster-children for ill-advised lifestyle choices.

Interestingly, there has been a move on the part of some institutions within the past several months to combat exactly this issue. The University of Pennsylvania Health System has adopted a policy that allows them to discriminate against smokers. While the ethical implications and actual feasibility of such a policy are certainly up for debate, it is perhaps encouraging to see some sort action being taken.

Ultimately, however, an argument of undue influence falls short. Why? Because it does not give ample credit to the power of choice. That is not to say that people cannot be unduly influenced, they certainly can (such an argument becomes even more plausible when one considers less independent rational actors, namely children and teenagers). However we — as independent agents — must have the ability to make their own choices. Just because your doctor smokes doesn’t mean you must start, just in the same way that it doesn’t disqualify him or her from giving you correct and helpful medical advice. Ultimately we need to recognize that doctors aren’t superhuman. They are capable of making irrational and incorrect choices just like the rest of us. This provides us with a valuable lesson. Education, information and intelligence aren’t always guarantors of responsible decision-making.

Nathan Risinger, B.A., is a research assistant at the Johns Hopkins Berman Institute of Bioethics.  He is interested in the concept of free will, especially in relation to the possibility of objective moral truths.

Rebecca Skloot’s recent OpEd in the New York Times, regarding the completion and (brief) posting of the whole genome sequence from the HeLa cell line, derived from Henrietta Lacks in 1951, highlights ethics and policy issues both specific and generalizable. As Skloot has pointed out elsewhere, the concern about whether the researchers who carried out the sequencing of HeLa had sought and received consent from the Lacks family is very specific to this cell line and this family and their history with the medical and research communities. At the same time, the general question of consent for whole genome sequencing of human tissue samples is an ongoing and critical debate. What is less in debate now is whether researchers can promise research participants anonymity: we can’t.

As my Berman Institute colleague, Michelle Huckaby Lewis, alluded to, the research community has been presented with evidence over the past five years, that various kinds of identification of “de-identified” data is possible; most recently, researchers in Boston were able to go from de-identified whole genome sequence data to names and whole families, using publicly available online resources. While this particular case involves a very well characterized set of samples (from individuals who were thoroughly consented), and therefore we may argue that it is not generalizable, the fact is that going forward, it is very unlikely that there will be less information available about each of us on the internet.

Clearly, as Michelle has pointed out, we need to think carefully about how best to protect individuals’ privacy. We also need to move forward on the issue of whether research on “de-identified” samples and data is human subjects research.

It is clear that genetic research, and in particular large scale sequencing to study complex diseases like diabetes and heart disease, will require that many, many people are willing to provide samples to be sequenced and to have those sequences shared with other researchers. Convincing many people to share these samples and data will require that they trust the researchers and the research community.

Situations like the one that the Lacks family has been living do not help the cause of trust. Appropriate informed consent and strong privacy protections certainly move us in the right direction.

We should also consider a further step: engaging individuals in the research process, so that they become true participants, rather than subjects. Research models wherein individuals can modify their consent over time, receive information about ongoing and proposed research with their samples and data, and receive individual research results keeps the individual at the center of the research enterprise and gives them meaningful control over what happens to their samples and data (whether they choose to exercise that control is up to them).

These models also offer the opportunity to enhance the usefulness of tissue and data repositories with updated medical information about the individuals from whom they were derived, and they foster trust. It’s a win-win.

Debra JH Mathews, PhD, MA, is the Assistant Director for Science Programs for the Berman Institute of Bioethics at Johns Hopkins University. Her research interests focus on the intersection of science, public policy and society. Dr Mathews’ most recent publication, ‘Access to Stem Cells and Data: Persons, Property Rights and Scientific Progress’, published in Science can be accessed here (free abstract) and here (open access full text).

The op-ed by Rebecca Skloot about genetic sequencing performed on a cell line of HeLa cells that long ago originated from Henrietta Lacks raises important issues about genomic and genetic research, the responsibilities of researchers, and the importance of maintaining public trust in the research enterprise. In this case, the cells of a known, deceased individual were sequenced without consent and temporarily made available to the public on line.

A more probable, and potentially more worrisome, scenario for most individuals might involve the release of an individual’s de-identified blood sample to researchers.  Generally speaking, the use of de-identified samples for research does not require consent under current regulations.  The concern is that since a blood sample contains the individual’s DNA, and the individual’s genetic sequence is unique to that individual, the de-identified sample could be re-identified and linked back to the individual who was the source of the sample and its related information.

It is important to note that although this scenario is possible, it is not likely since the researcher would have to have independent information about the individual’s genetic sequence information and the identity of the individual in order for the re-linking to occur.  As has been shown recently in the scientific literature, this scenario is possible, but for most of us, at the present time, researchers would not have independent access to genetic information linked to our identities.  However, in the future, access to this type of information might be more readily accessible.

Nevertheless, the possibility of this scenario highlights the need for the development of robust privacy protections that would serve to build, rather than undermine, public trust in genomic research.  One proposal has included strict prohibitions against attempts by researchers to re-identify de-identified blood or tissue samples.  To be effective, these prohibitions must be coupled with penalties for violation.  Another important safeguard would be to delineate strict criteria with respect to what types of entities are allowed access to the sequence information and how the information may be used.

Genomic research presents novel ethical and legal challenges.  There are many more questions that need to be addressed, but this example highlights the need for continued oversight of genomic and genetic research.

Michelle Huckaby Lewis, MD, JD, is a pediatrician and an attorney with training in bioethics and health services research. She joined the Berman Institute of Bioethics and the Genetics and Public Policy Center in 2010. Her overall goal is to use her interdisciplinary training to inform the debate about the development of policies related to genetics research. Her current research focuses primarily on the retention and use of residual newborn screening blood samples. In addition, she is involved in the development of a website to provide clinical information about specific cystic fibrosis mutations on a publicly available web site.

The first comprehensive database of federally supported human subjects research went online today, but it is only an early ‘stepping-stone’ in assessing protections for human subjects, according to a concurrent commentary published by the Hastings Center journal IRB: Ethics & Human Research.

Michelle Groman, JD, Associate Director at the Commission, and Jeremy Sugarman, MD, MPH, MA, Senior Advisor to the Commission during its work on this issue, call the database a “solid starting point” for understanding the scope of human subjects research supported by the federal government.

“Without such data, any assessment of the extent to which research participants are protected would be incomplete at best and biased at worst,” they write.

The Commission’s database comprises more than 250,000 project entries from 18 federal depart­ments and agencies for a five-year period (FY06-FY10).  In 2010 alone, the federal government supported over 55,000 human research projects. The Department of Health and Human Services (HHS) sup­ported the most projects, and, within HHS, the Nation­al Institutes of Health supported the most projects of any operating division, the authors report. In addition to HHS, the Depart­ment of Veterans Affairs, Department of Defense, Na­tional Science Foundation, and Department of Educa­tion comprised the top five human research supporters (by number of projects) in 2010.

The database is “the most complete picture available of the landscape of U.S. government-supported human subjects research,” according to Groman and Sugarman.

“What is unique about this database is its breadth of coverage of the types of research supported across the U.S. government,” the authors write, clarifying that unlike the website ClincialTrials.gov, the Commission’s database extends beyond information about clinical trials to include other types such as social, behavioral and economic research.

Although the database is static and no updates are planned, the Commission recommended that federal departments and agencies make this sort of information publicly accessible in the future. In fact, some federal departments and agencies already have track­ing systems in place, while others are developing them, the authors note.

“It begins with accountability,” says Sugarman, the Harvey M. Meyerhoff Professor of Bioethics and Medicine at the Johns Hopkins Berman Institute of Bioethics.  “Federal government agencies and departments should account for and share basic information about the human subjects research they fund, project by project. If we know of all the federally funded research that is being conducted, we’ll be better able to provide appropriate ethical protections for research participants,” he says.

Groman and Sugarman write that the Commission has “only scratched the surface” of the information-rich database, citing examples of further research to be done, including the involvement of vulnerable populations in research and comparison studies with non-federally supported research cataloged on Clinicaltrials.gov.

The database is the result of a Commission investigation, the official report of which was published in December 2011, titled Moral Science: Protecting Participants in Human Subjects Research. President Obama requested the investigation in response to the discovery in October 2010 that, from 1946 to 1948, the U.S. Public Health Service conducted experiments in Guatemala that intentionally exposed thousands of people to sexually transmitted diseases.  The president asked the Commission to “determine if federal regulations and international standards adequately guard the health and well-being of participants in scientific studies supported by the Federal Government,” as well as to conduct a thorough investigation of the experiments in Guatemala.  The findings of the historical investigation were published in September 2011 in the report Ethically Impossible – STD Research in Guate­mala 1946 to 1948.

“Adequately protecting human subjects is a goal we can all support, but first we have to understand that there are many important, smaller steps along the way to achieving it,” says Sugarman.  “If we want to ensure human research subjects are protected, first and foremost we have to know about all the research being conducted with human subjects.”

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Commission Database: http://www.bioethics.gov/cms/node/756

Commission Report—Moral Science: Protecting Participants in Human Subjects Research: http://bioethics.gov/cms/node/558

Commission Report—Ethically Impossible – STD Research in Guate­mala 1946 to 1948: http://bioethics.gov/cms/sites/default/files/Ethically-Impossible_PCSBI.pdf

The last month was a busy one in the world of medical innovation and human enhancement. The FDA approved the first bionic eye, telepathy has been induced in rats, and The New York Times published a lengthy article on the abuse and dangers of Adderall and other ADHD medications. While enhancing technologies may be used to treat illness, they can also be used to improve upon what we might define as normal/typical function.  Enhancing technologies that push our limits, whether physical or mental, are appearing rapidly, whether or not we are prepared, leaving us to wonder how we ought to react –should these technologies be limited or encouraged?

Determining what is ethically permissible in enhancement is tricky, because the desire to improve ourselves is an essential part of who we are; we continually strive to be better. So, in a sense, enhancement is not crossing the line, a transgression, so much as pushing the line forward. After all, there was a time when vaccination, an enhancement that is immensely effective for preventing communicable diseases, was considered crude and barbaric, and efforts to move the science of vaccination forward were conducted haphazardly without concern for safety and or social impact. But vaccination was new when it was viewed in this way, as many of these enhancing technologies are new and unfamiliar today. If they were broadly adopted, it’s likely that they would eventually be broadly viewed as routine and acceptable, like vaccines.

Let’s look at the goals, and consider whether they are inherently sinister. There is nothing inherently wrong with many of the goals of enhancement. There is nothing inherently unethical with surgically altering one’s appearance, staying awake for 60 hours, or running five miles in twenty minutes.

Our challenge then becomes sorting out the risks and benefits, and the biggest problem may be the pressures that unbalance these sorts of evaluations when these enhancements move from being possibilities to becoming expected adaptations.

For example, imagine that UPS and FedEx merge into a massive corporation that completely dominates the shipping industry and requires its employees to take drugs in order to stay awake longer, in order to guarantee two-day global shipping?  This sort of coercion is unethical. Enhancing technologies of this sort only benefit an individual if it confers a competitive advantage. In this case, it would seem that UPS-Ex is the only party that will actually receive any direct benefits resulting from employees taking on the risks associated with becoming enhanced. Yet, employees would undoubtedly still feel immense pressures to participate in this new normal.

Some categories of enhancements have a more positive intrinsic value, and present a simpler analysis for evaluating risks and benefits. The individual receiving such an enhancement could objectively expect some form of benefit, regardless of their ‘competition’. For example, enhancements that promote well-being and health, like vaccines. The positive benefits of good health extend further than the patient; healthy individuals are less likely to become infected and infect others. Such enhancements leave us capable of greater, more meaningful contributions to society.

Intelligence and cognitive enhancements clearly have an intrinsic value, after all, who would not want to be smarter? This type of enhancement would benefit others through their interaction and association with a smarter individual.  Perhaps we could all stand to benefit from artificially improving our cognitive and intellectual abilities.

Clearly, enhancing technologies are not without risks, for example addiction to medication like Adderall has been problematic. But, we don’t need to ‘throw the baby out with the bath water.’ These are risks that can be managed, just as they are managed with medical treatments, with appropriate review, regulation and oversight. Instead of restricting access and locking enhancements away, we should encourage their careful development. By pursuing these innovations and discovering safer, and more cost-efficient advances, we can best prepare ourselves for the innovations that follow. As human-enhancing technologies continue to become unveiled in the upcoming years, we should also develop a more proactive approach that allows us to address difficult ethical questions and challenges that come with these technologies in the most thorough and thoughtful manner possible.

Nick Boire is a Research Assistant with the Johns Hopkins Berman Institute of Bioethics and an ScM Graduate Student at the Johns Hopkins Bloomberg School of Public Health