Johns Hopkins Gazette: December 11, 1995

Part III--Genetic Fortune-Telling
The Price For Knowing The Future

Mike Field
Staff Writer

Whose Right to Know?
     The women were strangers to one another, yet over the course
of three hours they sat together and shared their deepest
feelings, thoughts and fears about breast cancer. They met in
conference rooms and meeting spaces at Greenspring Station and on
the East Baltimore campus. Some came from families untouched by
the disease; others had watched a mother, sister or some other
close relative battle the illness, sometimes unsuccessfully. 

     Assembled in groups of 10 with a court stenographer to
capture every word spoken, they discussed the causes, effects and
consequences of the third most common cause of death among women.
All agreed that further research and a greater understanding were
needed in combating the disease; most held out hope that someday,
a cure or prevention would be found. It is perhaps not surprising
then, that the group responded enthusiastically when informed
that a new genetic test had been developed that could identify
some women at risk for the disease.

     Yet in their initial excitement, few participants stopped to
wonder how the test--which might only be useful to help predict,
not prevent, the disease--would affect their health insurance. 

     "We asked them what they thought about such a test, and
overwhelmingly we found that the subjects didn't mention      
the insurance dimension," said Barbara Bernhardt, assistant
professor of pediatrics at the School of Medicine and one of the
primary investigators who led the discussions. Bernhardt and her
collaborators hope to use the results of the focus groups to
develop an informed consent process for genetic testing for
breast cancer risk.

     "A big concern is that patients and consumers and doctors
are not aware of the potential for insurance discrimination,"
Bernhardt said. "We feel the possibility is very real. Insurers
have been quite candid in saying they will use this information
if it is made available to them." 

     Tests that identify increased risk for breast cancer--or any
other devastating illness--could theoretically lead to higher
premiums or outright cancellation of policies. Bernhardt suggests
that they could also adversely affect a woman's ability to
purchase life insurance.

Science Ahead of Ethics
     On the first floor of the 2024 East Monument building on the
East Baltimore campus, an array of computers at the Genome Data
Base keeps track of the worldwide effort to map the human genome.
One day, the data base will contain the precise location of each
of the estimated 80,000 to 100,000 human genes. Another computer,
located at the National Institutes of Health in Bethesda, is
tracking the simultaneous effort to sequence the base pairs (The
Gazette, 11/27/95) of each of those genes. If the scientists of
the Human Genome Project are successful--and there is no reason
to believe they will not be--by the year 2005 researchers and
physicians should have a base reference of human genetic
structure that will enable them to easily identify individuals at
risk for a variety of diseases, including many cancers.

     But while the science is advancing at a lightning pace--DNA
structure was deciphered just 42 years ago--the social, legal and
ethical implications of genetic research remain largely
unresolved. For instance, questions of genetic privacy are
particularly acute in the United States, where the national
system of competitive private health insurance encourages
insurers to minimize risk by screening out applicants who are
already sick.

     "We have all grown accustomed to insurance questionnaires
that ask, 'Have you ever had this, that or the other illness,'"
Bernhardt said. "Although it has not happened yet, it is entirely
possible--some would say likely--that insurance questionnaires
will someday ask about or require genetic testing as well. Even
now, if you submit a bill for genetic testing to your insurance
company they are privy to that information; if you don't submit
the bill, the test results become part of your medical record

     If insurers have the ability and the right to screen out
applicants with a previous medical history of an illness, why
should they be prevented from eliminating participants whose
genes indicate they stand a statistically significant chance of
coming down with that same illness sometime in the future? And
what of the possibility that certain genes or gene combinations
predispose individuals to behavioral patterns such as obesity or
alcoholism? Should insurance companies be allowed to write
conditional policies that forbid, for instance, potential
alcoholics to drink?

Risks to Research
     An article in the October 1995 issue of Science argues that
immediate reforms are necessary on a national level to prevent
not only widespread genetic discrimination in insurance and even
employment, but also in order to assure the availability of
participants in future studies. 

     "The use of genetic information to exclude high-risk people
from health care by denying coverage or charging prohibitive
rates will limit or nullify the anticipated benefits of genetic
research," note the authors in their introduction. "People may be
unwilling to participate in research and to share information
about their genetic status with their health providers or family
members because of concern about misuse of information." 

     The study goes on to cite a recent survey of people with a
known genetic condition in the family. Almost a quarter of the
respondents indicated they had been denied health insurance
coverage because of their genetic status, regardless of whether
they were sick or not.

     "There is very little in the way of published documentation
of insurance discrimination, and so far, not much has been
quantified," said Nancy Kass, assistant professor of health
policy and management in the School of Public Health. Kass, who
teaches in the Program in Law, Ethics and Health, has recently
initiated a three-year study of experiences, beliefs and
attitudes surrounding privacy concerns and health insurance
issues for the National Center for Human Genome Research.

     "Most of the information available at this time is
anecdotal," Kass said. 

     It does, however, indicate several areas in which increased
genetic knowledge may adversely affect at-risk populations. There
is the issue of insurance denial and premium rates, "but there
are also issues such as job and lifestyle choices that we will be
looking at," she said. "It is funny that in this country people
have begun to make career choices based on health insurance
options. If you think about it, it makes no sense to link where
you choose to live or what job you choose to do with what
insurance is available. The two have nothing to do with one
another, but in this country, due to the employer-based health
insurance system that arose in the 1920s, the two are linked."

     In order to end present and prevent future genetic
discrimination, the Science magazine article recommends four
reforms to the current healthcare system: prohibiting insurance
providers from using genetic information in offering coverage;
preventing them from setting rates based on the same information;
prohibiting insurers from collecting or requesting genetic
information at all; and preventing any holders of genetic
information from releasing the information without specific
written consent. 

     The recommendations--meant for state and federal
policymakers--are the work of a joint effort of the National
Institutes of Health Department of Energy Working Group on
Ethical, Legal, and Social Implications of the Human Genome
Project and the National Action Plan on Breast Cancer. 

     The article notes that since the launch of the Human Genome
Project in 1990, eight states (including Maryland) have enacted
some form of protection against genetic discrimination in health
insurance. Several others are currently considering similar

     Yet two factors greatly limit the effectiveness of such
legislation: nearly all the current laws focus only on genetic
testing, leaving insurance companies free to discriminate on
other genetic information such as family history. More
significantly, state laws do not cover the estimated one-third of
the insured population covered through self-funded plans, which
are federally regulated. Hopkins, for instance, self-funds its
Blue Cross/Blue Shield plan, which means the university could
deny coverage to certain employees based on genetic testing if it
chose to do so.(It currently does not and has no plans to do so,
according to senior director of Benefits Administration Frank

     Insurers argue they should be able to use genetic tests for
the same reason they are able to exclude pre-existing conditions:
that in a market where insurance remains voluntary they must have
some means of protecting themselves from "adverse selection" in
which individuals only purchase insurance when they know they are
sick or are going to become sick. 

     "The way the system is currently structured if I were an
insurance company I would want to have the ability to genetically
test too," Kass said. "If health insurance was mandatory or we
had national insurance, this would create a different set of

     At this time, insurance discrimination by mandatory genetic
testing is more of a theoretical than practical issue, notes
Kass. The current understanding of the relation between a faulty
gene and disease is still embryonic, and with only a few
exceptions there is little in the way of statistical evidence
relating the two. For the time being, this absence limits the
ability of insurers to incorporate genetic risks into their
actuarial calculations. 

     "Are any insurance companies actually conducting genetic
testing to deny coverage? There have been a lot of surveys done
with insurance companies and right now the answer is no," Kass
said. "But there is evidence that if genetic information becomes
reliably available to them they will use it."

Impetus to Reform
     Ironically, some have suggested that the coming ability to
test genetically for a variety of illnesses and susceptibilities
may bring about what years of debate and the efforts of several
U.S. presidents have been unable to achieve--significant reform
to the current system of American health care. 

     "There are two factors relating to genetic testing that are
somewhat unique," Kass said. "First, unlike, say, AIDS or lung
cancer, there is the definite feeling that a genetic disease or
predisposition to disease is no one's fault. The second impetus
is the widespread belief that when you add all the various gene
tests up, eventually just about everybody is going to be at risk
for something."

     A bill sponsored by Sen. Nancy Kassebaum (R-Kansas) that
would prohibit insurers from denying coverage based on genetic
testing is now before Congress. Critics contend, however, that
the bill would be only marginally effective as it allows insurers
to set rates based on genetic information. Individuals at high
risk might find insurance available, but priced beyond their

     If anything, genetic testing only brings the disadvantages
of the current system of American health insurance into sharper
focus. "This is all part of a larger issue," Kass said. "Ought
having a medical condition generally--regardless of any genetic
component--limit an individual's chance to get medical insurance?
Is it fair that people who are sick in our society can be denied
insurance? Should such a system exist?"

     These are questions that have perplexed and bedeviled
national politics for years, periodically emerging to draw
attention to the 40 million or so Americans who have no health
insurance whatsoever. Now, with the impending arrival of
sophisticated means of genetic testing for everything from
arthritis to sickle cell anemia, they are bound to take on new
urgency. The argument over the healthcare reform, temporarily in
remission, will undoubtedly flare again. 

     Next time, the brave new world of genetic prognostication
will no doubt play a central part in the debate.

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