The ethics of genetic testing

By Ross Tomlin

How much access to your genetic information should insurance companies have – if any? Should some elements of your genetic profile be off-limits to your physician – or even to you?

Such questions – and many others revolving around the labyrinthine ethical implications of genetic testing – were the subject of discussion by science and ethics experts at a recent symposium co-hosted by Baylor College of Medicine and the James A. Baker III Institute for Public Policy at Rice University.

"Genetic Testing and Healthcare in the New Millennium" constituted one of several hundred meetings arranged annually by the Woodrow Wilson International Center for Scholars, a non-partisan institute that brings together scholars, policymakers, and business leaders to provide a link between ideas and public policy.

No easy answers

During his progress report on the evolution of testing for genetic abnormalities, Arthur Beaudet, M.D., chair of molecular and human genetics at BCM, pointed out that these tests represent a double-edged sword. While they reveal a wealth of information about individuals, they also introduce complex ethical quandaries.

For instance, chromosomal microarray analysis is a major advance in the diagnosis of children with disabilities, but when used as a prenatal test in combination with amniocentesis, the test can detect severe genetic abnormalities early in pregnancy leading more parents to confront the difficult decision of whether to terminate or continue a pregnancy. They must weigh that against the knowledge that certain debilitating disorders can cause lifelong hardships for families and individuals.

"Society has an enormous dilemma about which choice it should make," said Beaudet, who characterized "tragic stories" of the most severe genetic disorders as potentially "devastating" for many families.

Meanwhile, many emerging genetic tests come with steep price tags, rendering them inaccessible to some parts of the populace already struggling to keep pace with escalating healthcare costs. In this way, genetic "perfection," already an ethically questionable issue, would be unjustly inaccessible except to those people who can afford it. Furthermore, who will pay for increased costs of more frequent genetic counseling and its attendant costs?

Beaudet expects tests like chromosomal microarray analysis to get cheaper over time. Chromosomal microarray analysis is a new method of analyzing chromosomes (cellular components that contain many genes and much genetic information) to test for a large number of genetic disorders in a single sample of blood. Other laboratory economies can also bring the costs down.

The financial aspects aside, Beaudet was "optimistic" about the capabilities of genetic testing in the near future.

"Would you want to know if you have a 30-fold increased risk of deep-vein thrombosis or not?" he said.

On the flipside, Amy McGuire, J.D., Ph.D., assistant professor of medicine with the Center for Medical Ethics and Health Policy at BCM, asked the question of whether some people might prefer not to know their genetic predisposition for as-yet incurable disorders such as Alzheimer's disease. Foreknowledge of onset of such a degenerative disorder, she reasoned, could compromise the quality of one's younger, healthier years.

Information overload

McGuire also noted that advances in genetic testing will challenge what might be considered "normal" health as technology sheds more light on our medical predispositions. In the process, some consensus will need to be formed regarding increasingly blurring ethical boundaries between gene therapy and genetic enhancement.

A theoretical example was made of the discovery of a gene that causes shyness. Would genetic reengineering to make someone more outgoing qualify as therapy, taking into account that overcoming shyness can happen through behavioral modifications? Moreover, would such enhancement cross the line into genetic tampering? Where should the line be drawn?

The imprecise intersection of social issues and the law surrounding genetic testing was discussed by visiting legal experts Mark Rothstein, J.D., and Robert Slomoff, J.D. Rothstein, the director of the Institute for Bioethics, Health Policy and Law at the University of Louisville School of Medicine, said that not only is genetic testing itself changing, but so is its purpose. Whereas this technology was initially intended to confirm diagnoses, it can now be used to facilitate prevention and cures of disorders. As a result, Rothstein said, the legal ramifications will be sweeping.

"Genetics will affect every area of the law," said Rothstein. Specifically, he said, the realm of informed consent figures to become even more difficult than it is currently with the advent of highly personal genetic revelations.

"No matter how the authorization is worded, in a largely paper-based system the disclosers of health records don't have time, energy, money, or wherewithal to segregate what's requested from what's not requested, and everything goes," he said.

An informal poll among members of both the panel and audience showed no consensus on the issue of disclosing genetic records to healthcare providers. Some were opposed to disclosing such information. For example, Slomoff said, "You would have to put a gun to my head" to disclose genetic test results, even to his doctor. He said he felt the risk of one's genetic information falling into the wrong hands was too great. Others, like Beaudet, contended that to receive optimal care, a patient would be best served by his or her physician's complete access to pertinent medical and genetic information.

Rothstein also warned of dangers posed by the prospective shift in the management of genetic information from specialists to primary care providers, a group that has not traditionally been involved in clinical genetics. He cited the results of a survey he conducted on breast cancer gene tests. By and large, primary care specialists, who may one day soon helm the responsibility for at least pre-test genetic counseling, scored extremely poorly compared to oncologists and gynecologists.

Red tape

Privacy concerns will naturally factor into the regulation of genetic information. Most people would likely balk at the idea, for instance, of disclosing their genetic information to employers and insurance companies, which could conceivably turn down prospective applicants based solely on their genetic predispositions. The symposium speakers agreed that the United States should develop a national healthcare policy that would prevent such discrimination against people for reasons over which they have no control, as in genetic predispositions.

Rothstein noted that to be employed and to procure life insurance, one has only so much control and understanding of all the implications when authorizing the release of one's health records. He cited that there are 25 million compelled authorizations for the disclosure of health records in the U.S. each year.

"Technology is wonderful," he said, "but we have to be smart and sensitive about how we use it."

Slomoff, a special consultant for the law firm Fulbright & Jaworski in Washington, D.C., on matters pertaining to Food and Drug Administration regulations, said that the onus of framing the ethical parameters of genetic testing falls largely on the shoulders of the scientific community, not the government.

"As clinicians and researchers, I would urge you to choose your questions carefully and remember from a regulatory perspective, [the FDA] is going to make a decision on how likely your hypothesis is to be correct," said Slomoff, who said the FDA's "currency" is anxiety over safety and efficacy rather than mapping the course of scientific conduct. "Spend 80 percent of your imagination, your skill, your talent on the questions and 20 percent of it on the answers. Answers will come easier if you get the questions right."

Going public

As technological advances in genetic testing and other areas become more rapid, physicians will have to realign their relationships with patients accordingly and must avoid widening a divide that at times already suffers from communication and culture disconnects.

Several speakers noted that with the avalanche of technological capabilities come the inevitable roles that doctors will play as data managers of their patients' health dossiers, and they warned that physicians should be leery of becoming "technocrats" who wind up on the other side of a communication rift from their patients. McGuire pointed out that through the thick and thin of ethically sticky technological advances, physicians must above all maintain the trust of their patients. She also cited polls showing that a majority of the public opposes the concept of a paternalistic doctor, preferring to have an interactive, collegial rapport.

In his closing remarks, Neal Lane, Ph.D., senior fellow in Science and Technology at the James A. Baker III Institute for Public Policy at Rice University, said that good laws regulating genetic testing and its uses are unlikely unless policymakers are kept informed and the issue is kept high on the political agenda. He also called for the emergence of "civic scientists" in all fields of research and medicine.

"A civic scientist is someone who has technical credentials, either medicine or science or engineering or some other field, and then uses their skills, their energy, their time ... to open doors, to attract attention, to then respond to invitations from the public and from policymakers," Lane said. "We can have an enormous impact on the public, and in a way, I would think they would be surprised that we were paying attention to them because by and large they think we aren't. We have an opportunity there, and we have a real obligation."