BALTIMOREHowever unfamiliar the territory, physicians,
nurses, and other health care providers must understand the murky
region surrounding genetic testing where legal, ethical, and social
questions overlap science, said Karen H. Rothenberg, JD, MPA,
director of the Law and Health Care Program, University of Maryland
School of Law. She spoke at a program on clinical cancer genetics
held at Johns Hopkins University.
Genetic testing produces data different from other kinds of
medical information, Ms. Rothenberg said. She referred to the
distinctions as the six Ps (see Table ). Genetic
information, she said, is personal, powerful, potentially
predictive, pedigree sensitive, permanent, and prejudicial.
The Six Ps of Genetic Information
Genetic Information Is:
Personal (as unique as an individuals DNA)
Powerful (or may appear to be)
Potentially predictive (of future health problems)
Pedigree sensitive (it is not just about individuals, but
Permanent (currently, or at least not easily changed by gene therapy)
Prejudicial (historically used to discriminate against populations)
Legal issues that may crop up when dealing with genetic testing
include informed consent, discrimination, privacy, liability, and
family rights. She provided specific examples and advice on how to
avoid potential legal problems.
Informed consent has its benefits and risks, but its
context is constantly changing, she said. For instance, the
predictive value of a genetic test may not be known or may have
varying usefulness in diagnosis. There is a risk of misinterpretation
among patients or in the community, or there may be limited data on
the effectiveness of preventive or interventional strategies.
The effect on health behavior may not always be
straightforward. Would a hypothetical test for lung cancer
susceptibility, for example, empower or paralyze people? Would a
negative test free people from the fear of lung cancer and so
encourage them to smokeleading to other smoking-related
There is great difficulty in quantifying social risk, Ms.
Rothenberg said. Much depends on patients personal
histories. The views of two people may differ depending on whether
they see themselves as healthy or a cancer patient.
Legal prohibitions on genetic discrimination in health insurance
have been proposed and passed in some states, she said. Generally,
these have stated that insurance companies may not require or request
genetic tests, may not ask for results, may not base coverage or
benefits on genetic testing, and may not consider genetic testing in
While these laws were enacted to protect consumers, they share a
number of problems. Most focus on test results, but say nothing
of family history or other sources of information, she said
(although a new Maryland law covers this point). Half the
people in the United States get their health insurance under ERISA,
which is not included under state legal protection, so we need a
federal solution. Now were trying to educate Congress so we can
reap the benefit of the Human Genome Project.
The federal Health Insurance Portability and Accountability Act
(HIPAA, or the Kennedy-Kassebaum Act) states that genetic information
cannot be considered a pre-existing condition, nor can it be used to
determine insurance eligibility. But the bill says nothing about
genetic privacy rights or about the practice of requesting genetic
testing as a condition of medical coverage.
On the other hand, the Equal Employment Opportunity Commission has
interpreted the Americans with Disability Act to say that a
disability may be created on the basis of genetic information, citing
predisposition to colon cancer as an example. However, this
interpretation has not yet been tested in the courts.
Thus we need a federal law saying that employers cannot
discriminate on the basis of genetic information, Ms.
Rothenberg said. Congress might decide to deal with employment and
health insurance issues together or by specific genetic legislation
on each topic.
Family issues. Perhaps the most complex questions arise
not in Congress, Ms. Rothenberg said, but at the
intersection of medical knowledge, ethical issues, and family
dynamics. The individual autonomy model that is a part of
contemporary medical ethics crumbles when testing
genetics, she said. The family is the unit under
discussion, not the individual.
Both patients and their families may believe they have a right to
know the outcome of genetic testsand a right not to know, as
well. Genetic information can throw a harsh light onto social and
genetic relationships and intergenerational issues. Expectations of
privacy may vary widely, and laws generally do not specifically
immunize health care providers against lawsuits based on their giving
or not giving genetic information.
We value information in the health care system, she said.
Doctors, genetic counselors, and nurses have to do good risk
assessment with patients and then maintain good communication with
their families when that is desired.
Deciding on genetic testing for children depends on the disease and
on the test. Children arent ordinarily tested for adult-onset
diseases until they reach majority status. Parental anxiety is
not sufficient reason to test, she said, although there may be
a few cases in which medical benefits outweigh psychological harm.
But there are professionals who believe it is medically
appropriate to offer genetic testing if you are looking for a
childhood disease, there is an effective intervention, and the test
can be adequately interpreted, she said.
Genetic information is already a part of family law and the court
system. When people fight each other in court, they want to
win, she said, and that means bringing any available evidence.
Besides the obvious area of paternity, Ms. Rothenberg said, genetic
testing might be dragged into custody battles in divorce trials.
Could a mother with a mutation predisposing her to breast
cancer, for example, be denied custody of her children because the
father believes he will live longer? she hypothesized. A court
might rule it would be in the best interest of the child
to live with the parent who did not have a genetic predisposition to
Finally, Ms. Rothenberg asked, how can law support health care
providers in taking the right steps in the age of genetic
information? She gave this advice:
Disclose to patients the benefits, risks, and limitations of genetic
testing. Studies have show that if something goes wrong in the
operating room, the patient is more likely to sue if prior
communication was lacking, she said.
Follow up and stay in contact with the patient after genetic testing.
Establish and maintain a working doctor-patient relationship.
Be aware of the risk to others of genetic information and talk to
patients about those issues.
Anticipate potential legal, ethical, and social issues before testing.
Understand the dynamics of the patients family. Encourage
family involvement but be aware of potential problems.
Avoid coercion by the patients family or by other health care
providers to reveal test results.
Be aware of applicable state and federal laws.