Report identifies key issues for genomics

Evidence base needed for public health uses

A group of experts in areas ranging from medicine to law and bioethics suggests that a base of quality evidence must exist and associated ethical concerns must be addressed before public health strategies based on genomics are implemented.

In addition to questions of efficacy of drugs and the benefits of diagnostics based on genetic information in individual clinical health, the experts determined that genomic medicine should be a factor in public health, as well, and on a global level.

"By 'public health,' we mean 'the public's health,' which can be influenced via a variety of different routes including programmes that operate at both population and individual levels," according to a report based on the group's meeting at Ickworth House in Suffolk, UK, on May 10-14 in 2010.

The report, "Public health in an era of genome-based and personalised medicine" was released in November 2010.

"There are a number of ways in which the public's health can be influenced by public health programs, and one of those programs will likely be genomic-based," Eric M. Meslin, PhD, a member of the steering committee for the international committee and director of the Indiana University Center for Bioethics, and one of the organizers, tells Medical Ethics Advisor. "Having said that, there's an awful lot we still don't know . . . about genomic medicine and science."

One of the current concerns emerging in the literature about this is "the worry about overly hyping or inflating expectations . . . the prospect that we're in a genomic century and pretty soon, we'll be able to develop all of these wonderful treatments," Meslin says. "The evidence base right now is that it's not happening either as quickly as we would have hoped, or it's harder than we thought, and let's not run the risk of over-hyping — raising the public's expectations only to have to dash them later."

The slow progress or inability to translate genomic research into safe health care treatments or interventions also tends to dampen the confidence of investors, who are needed to fund such research, particularly in the biotech arena, Meslin says.

A global perspective on ethics

One of the premises of the meeting was that genomics and genetic science should play a role in the global public health arena, Meslin says. But from an ethics perspective, "the global public health angle to this is particularly daunting."

"On the one hand, it would be easy to simply close your eye to genomics and all of the technology and say, 'They've got their hands full in lower- and middle-income countries with just simply feeding and having safe water for people and immunizing them; that's a tough enough ethical challenge, and that's where one ought to be spending one's money.

"On the other hand, the longer that you allow the divide between north and south to persist, where the north is getting access to genomic technologies and genomic science . . . then the gap that exists now will explode and be even wider," Meslin explains. "So, should [less developed countries] also have equal opportunity to access the benefits of genomic science?"

In the majority of the world's countries, he points out, access to health care delivery is "principally through public health interventions and not someone going to their [general practitioner] or their gynecologist or their whatever on a daily basis," he says.

"So, if that's the case, maybe they have an even greater claim to either the benefits from or the application of genomic science," says Meslin.

The goal is to see more potential benefits in countries that "could make more use of it."

Consequently, the group of expert delegates at the Ickworth meeting set forth a model for genomic science to progress to the point of having evidence-based medicine for public health uses, which it called the Ickworth model. The hope is that stakeholders in public health will at least consider it as a blueprint for going forward.

"I think it is fair to say that the conveners of this [meeting] and all of the delegates did not expect this to be the last word on this topic," Meslin explains. "This was really the first word on it, so it should be seen as a, 'You must do this, and now we're done with our job.' Many of the recommendations and the conclusions we reached are calling for more research, more integration, more translation — building capacity; and that may take many months, many years to happen, and that's fine.

"But we wanted to start the conversation with more than just aspirational comments about what the world might look like; we made what we hope were some specific recommendations for action," says Meslin.

Specific ethical concerns

The ethical concerns for public health are not that different from individual clinical ethics principles, which revolve around consent, privacy, risk, and allocation of resources, he says.

"[These are] . . . the large headlines that we often associate with ethical concerns," Meslin notes. "On the other hand, the devil is in the details. It really does matter whether you're thinking about risks to individuals vs. risks to populations. Those ethical issues are often not only profound, but could be seen as . . . diametrically opposed."

For example, he notes that in the recent pandemic influenza planning, "protecting individuals' rights against the power of the state are in direct conflict during a pandemic outbreak."

So, while "the topical names of the ethical issues might not be dramatically different . . . more importantly, the implementation and interpretation of those ethical issues are often profoundly different, principally because in a public health policy space, the state has the authority to do things that in no other environment does anyone have the authority to do, which is restrict liberty in certain ways, deny or withhold certain . . . rights in favor of communities and the broader population.

"And, the justification for action may not be defending human dignity or human liberty; it may be enhancing and promoting the population's health, which may ironically, and on occasion with regret, negatively impact a particular individual's health," he explains.

One of the specific ethics concerns relates to informed consent, which typically involves an individual giving his or her consent for a particular treatment or intervention.

"In public health ethics, we're only now having deeper conversations about things like community consent," he says, noting that there really isn't even a word to describe the concept.

"So, we've watched how this has been challenged in the area of biobanks, where individuals might be asked to allow biological specimens to be collected, stored, and used for a long [period of time] with or without very specific consent for unspecified future research," Meslin explains.

Another area of concern in the public health arena is confidentiality. He gives the example exhibiting similar concerns demonstrated last year, when genetic samples collected and used many years ago of the Havasupai in Arizona "revealed things about them that made them very concerned," he says.

"To have revealed something about their genetic provenance and their ancestry that they had historically not known was damaging in a sense, not only to them as persons but to the kind of private lives that they felt they were living," he says.

All of the issues like consent, privacy, and confidentiality are "terms that themselves are getting blurred — in the genomics world, anyway," Meslin says.

Unlike in past years, when "confidentiality used to be just information about you," and privacy "used to simply be about my ability to look at you, or look at you privately via means of literally accessing your body," these words mean something different now, when it's possible to know just about everything about a person from a swab from his or her cheek.

"Then, if that's not tough enough, is there such a thing as community privacy, or community confidentiality, or group harms of that kind?" he asks.

Compounding those concerns is the global perspective the Ickworth meeting and the resulting report took.

"I think that's what we were trying to get across — that the ethics is hard; we need to work on it," Meslin says.

Source

  • Eric M. Meslin, PhD, Director of the Indiana University Center for Bioethics at the Indiana University School of Medicine, Indianapolis. E-mail: emeslin@iupui.edu.