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Testimony on Genetic Information in the Workplace by Francis
S. Collins, M.D., Ph.D., Director, National Human Genome Research
Institute, National Institutes of Health, U.S. Department
of Health and Human Services
Before the Senate Health, Education, Labor, and Pensions
Committee
July 20, 2000
Mr. Chairman, and Members of the Committee,
it is a great pleasure to be here today to discuss the scientific
advances in genetics that will improve our quality of life,
and the importance of putting in place social policies to
prevent potential misuses of these new and powerful technologies.
Two years ago I appeared before you and spoke about the Human
Genome Project and its implications for health insurance.
Today, I am pleased to speak about the Project's progress
and the need to enact policy protections to assure workers
that genetic information will be used for benefit and not
for harm.
The Human Genome Project
Just over a decade ago a group of visionary
scientists had the boldness to dream of undertaking an experiment
of historic significance -- the sequencing and characterization
of the human genome. At the time there were many skeptics
in the scientific community. But with the steadfast support
of this Committee and other members of Congress, especially
Senators Domenici and Harkin, the Project moved forward. Today,
we readily acknowledge the wisdom and foresight of these men
and women.
I've been privileged over the last seven
years to lead, along with my colleagues at the Department
of Energy, an international team of some of the best and brightest
scientists from the U.S., the U.K., France, Germany, China,
and Japan who have been truly dedicated to sequencing the
human genome. On June 26th we announced that we have developed
a map of overlapping fragments that includes 97 percent of
the human genome, we have sequenced 85 percent of this, and
we are on our way towards completing the sequence in the next
two or three years. Most of the sequencing of the human genome
by the international consortium was done in just the last
15 months. Today, this consortium is sequencing 1,000 letters
of the DNA code per second, seven days a week, 24 hours a
day.
The sequence data is of higher quality than
expected, with half of it in finished or near-finished form.
And all of this information has been placed in public databases
every 24 hours, where any scientist with an Internet connection
can use it to help unravel the mysteries of human biology.
Scientists in academia and industry are actively mining these
data to unlock the mysteries of health and disease. Already,
more than a dozen genes, responsible for diseases from deafness
to kidney disease to cancer, have been identified using this
resource just in the last year.
This milestone of the publicly supported
HGP was celebrated jointly with scientific colleagues at Celera
Genomics. I congratulate Dr. Craig Venter and his team on
the work done at Celera, which uses an elegant and innovative
strategy that is highly complementary to the approach taken
by the public project. Much will be learned from a comparison
of the two.
The rapid advances in the Human Genome Project
and the study of the role genes play in health and disease
are providing powerful tools for us to understand the instructions
in our genetic material. We are daily gaining insights into
the mysteries of the human cell, how it works, and why sometimes...it
doesn't. Initially these discoveries about genetic diseases
related to relatively rare conditions, but increasingly now
the same powerful approaches are uncovering hereditary factors
in heart disease, diabetes, Parkinson's disease, bipolar illness,
asthma, and other common illnesses of our society. These revelations
hold within them the promise of a true transformation of medical
practice. Quite possibly before the end of the first decade
of this new millennium, each of us may be able to learn our
individual susceptibilities to common disorders, in some cases
allowing the design of a program of effective individualized
preventive medicine focused on lifestyle changes, diet and
medical surveillance to keep us healthy. This will also enable
us to focus our precious health care resources on maintaining
wellness, instead of relying on expensive and often imperfect
treatments for advanced disease.
These same discoveries about genetics likely
will lead us to predict who will respond most effectively
to a particular drug therapy, and who may suffer a side effect
and ought to avoid that particular drug. Furthermore, these
remarkable advances are expected to lead us to the next generation
of designer drugs, focused in a much more precise way on the
molecular basis of common illnesses, giving us a much more
powerful set of targeted interventions to treat disease.
The Importance of Protecting Genetic
Information
While genetic information and genetic technology
hold great promise for improving human health, they also can
be used in ways that are fundamentally unjust. Genetic information
can be used as the basis for insidious discrimination. Already,
with but a handful of genetic tests in common use, people
have lost their jobs, lost their health insurance, and lost
their economic well being due to the unfair and inappropriate
use of genetic information. It is estimated that all of us
carry dozens of glitches in our DNA -- so establishing principles
of fair use of this information is important for all of us.
The misuse of genetic information has the potential to be
a very serious problem, both in terms of people's access to
employment and health insurance and the continued ability
to undertake important genetic research.
An example - One individual was screened
and learned he was a carrier of a single misspelled gene for
Gaucher's disease. His carrier status indicates that he might
pass this mutation to his children, but that he would never
develop Gaucher's disease himself. He revealed this information
when applying for a job and was denied the job because of
his genetic status, even though it had no bearing on his present
or future ability to perform a job. Should employers be allowed
to use genetic information about misspellings in genes, whether
of a carrier or of an individual with misspellings that may
confer increased risk of disease, to deny employment, even
though the ability of the individual to perform the essential
functions of the job is unaffected?
David, who lives in the Midwest, has a strong
family history of colon cancer. He wants to do everything
he can to increase his odds for a long and healthy life. Luckily,
effective screening exists for colon cancer, using a procedure
called colonoscopy. And yet, to get these medical services,
David must disclose his family history in great detail...something
he worries about. He is also contemplating genetic testing,
which is available today for colon cancer risk. But he is
worried about the results…who will get them.... and how they
will be used. Will he lose his job? His health insurance?
Already in genetics research studies, we
are seeing individuals who opt not to participate in research
because of their fear that this information could fall into
the wrong hands and be used to deny them a job or a promotion.
As the clinical applications of genetics move out of the research
lab and into clinical practice, this problem will only become
more widespread. As a nation, we have stated unequivocally
in the Americans with Disabilities Act and the Rehabilitation
Act that one's ability to do a job should be judged on just
that... the ability to do the job.
The challenge, and it is a formidable one,
is to nurture scientific exploration, encourage the translation
of these new discoveries into life saving medicines, and to
put in place public policies reflective of our core American
values that prevent the unjust, unfair, and discriminatory
use of genetic information.
The Ethical, Legal, and Social Implications
(ELSI) Program
Sequencing the human genome was not the only
experiment of the Human Genome Project. Project leaders also
undertook another bold experiment -- one to concurrently study
the ethical, legal and social implications (ELSI) of advances
in genomic science.
From its outset, the federally supported
Human Genome Project has devoted a portion of its funding
to conduct research on the ELSI implications of genomics and
to develop recommendations to address the research, health
and public policy implications of the rapidly accumulating
genetic knowledge and technologies. I am pleased to report,
Mr. Chairman, some of the results of this bold and unprecedented
experiment.
Early research and subsequent policy deliberations
conducted by the ELSI program of the National Human Genome
Research Institute led to a series of recommendations for
safeguarding the privacy and fair use of genetic information
in both health insurance and the workplace. The health insurance
recommendations, published in Science magazine in October
of 1995, helped inform Congressional action in 1996 during
consideration of the Health Insurance Portability and Accountability
Act (HIPAA). This landmark legislation included key provisions
to prohibit the use of genetic information by group health
plans and insurers to deny an individual's coverage or increase
an individual’s premium. The recommendations also provided
the basis for the Administration to call upon the Congress
to pass legislation to enhance the protections on the fair
and appropriate use of genetic information that were begun
with the enactment of HIPAA.
Similarly, the ELSI program examined the
use of genetic information in the workplace and developed
a series of recommendations, published in Science magazine
in October of 1996, that served as a model for the workplace
legislation pending before this Committee and for the Executive
Order signed by President Clinton on February 8, 2000, the
first executive order of the new millennium. The order prohibits
Executive departments and agencies from using protected genetic
information as a basis for employment decisions. It also prohibits
the collection and disclosure of genetic information, except
in limited circumstances. In signing the order, the President
extended important protections to 2.8 million federal workers
and placed the federal government in the appropriate position
of leading by example.
At the time, the President also called on
Congress to protect the private genetic information of all
Americans, and endorsed the Genetic Nondiscrimination in Health
Insurance & Employment Act of 1999 (S. 1322/H.R 2457),
introduced by Senator Daschle and Congresswoman Slaughter.
This legislation would extend the protections for genetic
information included in the President's executive order to
the private sector, by ensuring that genetic information used
to help predict, prevent, and treat diseases will not also
be used to discriminate against Americans seeking employment
or promotion. The legislation would also enhance the protections
against genetic discrimination covering health insurance in
HIPAA. These points, which are key provisions of S. 1322 and
H.R. 2457, are summarized below:
§ Improve
the limitations in HIPAA on the collection and use of genetic
information in the group market and extend them to the individual
market;
§ Amend
HIPAA to limit the disclosure of genetic information by
health insurers to specified entities (e.g. other insurers,
employers and medical information bureaus);
§ Establish
meaningful remedies in HIPAA for violations of the genetic
non-discrimination provisions; and
§ Enact
limits on the collection, use, and disclosure of genetic
information in the workplace.
It is gratifying to note the number of bills
that have been introduced in the 106th Congress
regarding the fair use of genetic information and heartening
to see that both Republicans and Democrats recognize the need
for federal action. I particularly commend you, Mr. Chairman,
and the members of this Committee for your leadership.
Today, genetics brings unprecedented opportunities
for the practice of individualized preventive medicine. It
also presents an opportunity to practice preventive policy-making;
to put in place the kind of protections that the public needs
and deserves before we find ourselves in a needless crisis
situation. The completion of reading out the 3.2 billion chemical
letters of the human genome, the biological book of life,
is an historic achievement. But it is also a wake-up call.
To put in place today policies to ensure that differences
in these letters that encode the instructions for life are
not used as a basis for insidious discrimination would be
equally historic and visionary.
Thank you Mr. Chairman. I would be happy to answer any questions.
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