Press
Release No.2002-93
ETHICAL GUIDELINES
URGENTLY NEEDED FOR COLLECTING, PROCESSING, USING AND STORING
HUMAN GENETIC DATA
Paris/Montreal, November 25 - Human
genetic data is everywhere. Its presence in biological samples
(of blood, tissue, saliva and sperm etc.) provides answers to
questions from police and courts of law about paternity or the
identity of sex offenders. Scientists are also using it to detect
diseases we may be programmed to get, thus raising the hope for
new cures
Genetic data use has produced spectacular
results. Montreal University's magazine Forum reported (January
29, 2001) that 76 people on death row in the United States had
been cleared of their crimes since 1987 after looking at their
genetic imprint. But many are worried about the risks involved
in some of these promising uses. Jacques Testart, the "father"
of the first French test-tube baby, said in his book Des hommes
probables: (Of Probable Men) "It is unclear whether modern
societies can avoid new abuses, such as genetic racism which would
be science-based, replacing racism based on skin colour or ethnic
origin."
In this fast-developing field,
the need for ethical guidelines is obvious and UNESCO, which drew
up the Universal Declaration on the Human Genome and Human Rights
(adopted in 1997) has since 1993 encouraged debate on the issue
through its International Bioethics Committee (IBC), which has
produced two reports - Confidentiality and Genetic Data (June
2000) and Human Genetic Data: Preliminary Study by the IBC on
its Collection, Treatment, Storage and Use (May 2002).
The IBC's Drafting Group has for
the past few months been drawing up an international instrument
on human genetic data. The entire Committee will discuss the outline
of the text for the first time at its 9th session in Montreal
(Canada) November 26 to 28. Further consultations will follow
and a final version will be presented for adoption to UNESCO's
General Conference next autumn.
---
We may not always realize it, but
the use of human genetic data is becoming an ever larger part
of our lives, and not just where medicine is concerned. Some countries
- such as Iceland today, Estonia soon and Latvia and Tonga a bit
later - have undertaken genetic data censuses of their populations.
Genetic databanks are springing up all over the place, ever more
numerous and bigger. Their number is unclear, since nowadays even
very small hospitals have a stock of processed genetic data or
at least a collection of DNA samples waiting to be processed.
There are thought to be about 50 databanks with more than a million
items each.
Why collect so much? So we can
see the structure of genetic sequences in given populations and
variations among individuals and different populations (genetic
polymorphism), the scientists reply. Both basic and applied research
require such data to help explain developments or open the way
to new treatments. To understand diseases, such as diabetes for
example, scientists need samples from families where they occur
particularly often. They may also choose to look at samples from
groups that are unaffected by it.
Doctors are prescribing more and
more genetic tests nowadays, not just when taking decisions regarding
reproduction. Tests on adults are increasing and the results are
swelling the mass of data kelp by hospitals and research centres.
These tests are mainly used to study genetic mutations that can
trigger diseases. For example, genetic factors are involved in
5 to 10% of cases of breast cancer, which affects nearly one woman
in 11, and the mutant BRCA1, 2 and 3 genes have been identified
as the culprits. While their presence does not guarantee getting
the disease, it represents a significantly increased. In the United
States, thousands of women have asked their doctors for such screening.
Industry is naturally interested
in human genetic data as well. The legal battle between several
European institutions, including France's Institut Curie, and
the US firm Myriad Genetics shows this. It concerns screening
for breast cancer and ovarian cancers both of which are linked
to the presence of the BRCA1 gene. The Europeans are challenging
Myriad's patents that give it an unofficial monopoly. The Europeans
also say that because the firm refuses to grant manufacturing
licences, all DNA samples will have to be sent to the Myriad Genetics
headquarters in Salt Lake City for processing, providing the company
with a unique databank about people at high risk.
The interest of the pharmaceutical
industry is going to grow, since some people react badly (or not
at all) to some drugs (20% of high blood pressure patients, for
example) and firms hope to discover all the genetic differences
between people that explain this. Perhaps one day we will have
genetic tests so we can receive optimal treatment. If customized
medical treatment is to become possible, it will be thanks to
the genetic databanks currently being built up.
Moreover, genetic studies of entire
populations are underway. They involve the collection of vast
quantities of data assembled to show up the incidence of certain
genetic traits, and also for non-medical uses by police and the
courts. Even governments are increasingly interested in such data
and some have already started a genetic census of their population,
from which they can gain vital information that can help them
improve their public health policies. If such a census finds a
strong presence of a genetic mutation causing cardio-vascular
disease, for example, a prevention programme can be launched and
priority given to treatment, notably by funding research.
---
The stock of human genetic data
is sure to continue increasing. So we have to think about possible
misuses. At all stages - whether collecting, processing, using
or storing - ethical problems arise and some of the abuses that
would threaten human rights and human dignity can easily be imagined.
At the collecting stage,
there is the problem of consent, which is not new to the medical
profession. "Free, informed and express" consent is
not always self-evident. Suppose researchers in rich countries
decide to obtain raw genetic data from people living in countries
with less developed economies and legal protection systems, with
no legislation about genetic data or even basic information about
it, what kind of consent can they give?
There is also the issue of withdrawing
consent and the right of a donor to be informed or not (dealt
with in article 5c of the Universal Declaration on the Human Genome
and Human Rights). Some people might not want to have their genes
tested or know the results. Someone whose father has developed
Huntingdon's chorea, a neurological disease that affects one person
in every 10,000, has an even chance of developing it too. A test
for it exists but those taking it might want to avoid at all costs
the trauma of a bad result for them and their families. Might
they be practically obliged to take such a test if they wanted
to take out life insurance, for example? The insurance company
might ask them either to produce negative test results or to pay
a much higher premium.
At the processing stage,
confidentiality is the major problem. Should the samples or data
be tagged with the person's name? If so, how will confidentiality
be maintained? Some data (such as police specimens but also genetic
tests) needs to be identified or identifiable in this way, yet
everything must be done to respect confidentiality. Quite apart
from possible abuses, we have to recognize the dilemmas. Anybody
taking a test must be able to rely on confidentiality but family
members could invoke their right to access the test results because
they might be affected by the data. This dilemma could be particularly
hard to resolve if the first symptom of the disease in question
were blindness, for example, and one of the relatives of the person
tested were an air traffic controller responsible for other people's
lives.
We should be able to take for
granted the reliability and quality of processed data in view
of the professional standards practitioners, but there is a special
risk when it comes to research concerning behaviour genetics.
Just as some scientists once believed they could identify criminals
by the shape of their skulls, some today might be tempted to track
down genes for such things as crime, alcoholism or violence. The
media are usually keener on this kind of shortcut than scientists,
but some studies have already proved controversial. In fact the
problem is less with the data itself than with its interpretation,
but the danger of looking for "high-risk" individuals
or hunting for "bad genes" is too great to be overlooked.
At the using stage, the
first question is what for? The IBC Drafting Group's outline only
spells out the purposes of medical and scientific research, health
care, forensic medicine and the needs of the judiciary in civil
or criminal proceedings. The use (even just the collection) of
genetic data to discriminate against a section of the population
is not acceptable, any more than is use or collection for eugenic
purposes.
But "racial" discrimination
is not the only kind of discrimination and genetic data can be
used to discriminate in other ways. For example, a bias against
employing certain people might be presented, at least ostensibly,
as based on very sound motives. An oil company might ask its workers
to take a test to identify those running a particular risk of
falling ill because of contact with solvants. Such screening fits
nicely into preventive medicine in the interest of the employee.
But the test - suggested or imposed, the line is a thin one -
can put some candidates for a job at a disadvantage. Employers
more interested in productivity than health or justice might exclude
employees sensitive to certain products from services where these
substances are used in order to reduce financial losses due to
sick leave.
Some people suspect the members
of the insurance industry of wanting to introduce such discrimination.
Genetic tests are a godsend for insurers because they can enable
them to weed out "bad customers". The great temptation
is to ask life insurance applicants to be screened for certain
illnesses and penalize (through higher premiums) those who refuse
or who turn out to be at risk for certain illnesses. This means
that some will be lucky in the genetic lottery - with little likelihood
of being ill and thus benefiting from low premiums - while others
will lose out. As well as being likely to develop illness, insurers
will treat them as pariahs.
This may not yet be the case,
mainly because tests are only available for a few illnesses and
those that are available are not always reliable and produce only
strongly indicative results (except in the case of Huntingdon's
chorea) with no proof that a person will develop the disease.
However, except in a few countries where restrictions have been
imposed (Austria, Belgium, Norway, the Netherlands and parts of
the United States), the danger does exist. In some countries there
is no legislation about such practices and in some cases insurers
have decided themselves not to use genetic testing for the time
being. Though their moratorium is, in general, very short term,
usually five years only. They may use genetic tests in the future,
especially once tests become more accurate.
When speculating about possible
scenarios, we can imagine what might happen in education. At first,
it would obviously be in children's interest that school doctors
took genetic samples. The next step would be to try to use the
data to steer children through their schooling. After the "crime
gene", would there be a hunt for the one for mathematics?
Schools eager to score high could even devise an admissions policy
that favoured "geniuses," who would be defined as those
able to prove they had the "best genes."
There is also the problem of the
time element in collecting human samples as collections might
come to be used for new ends. If genetic research was needed on
lung samples from victims of a century-old flu epidemic, who would
give permission for the samples to be used in a way not originally
intended and obviously not authorized at the time? This possibility
is considered in the outline the Drafting Group will present in
Montreal. The text proposes to allow such use without consent
on condition that the samples are of undeniable interest for medical
and scientific research or for public health and that the anonymity
of the data providers is made irreversible.
The Drafting Group thinks that
as a rule one purpose should not exclude another. Human genetic
data collected for scientific and medical research, health care,
forensic medicine and judicial purposes in civil or criminal proceedings
"can be used for another purpose", the Group's version
says, "as long as prior, free, informed and express consent
of the person concerned is obtained again."
Use of genetic data implies expected beneficial results. At the
collection stage, the problem of "shopping" for genetic
data in poor countries by researchers and firms in rich countries
has been raised. This issue of fairness reappears at the results
stage. If genetic data gathered from a group of people is used
to the advantage of the acquirers in the form of tests and new
drugs, should the "donor" population not also benefit
from this?
There are also difficult issues
at the storing stage. What kind of human genetic data management
can ensure adequate protection of human rights and basic freedoms?
Which samples should be kept and which discarded, especially in
the case of those collected in a criminal investigation or lawsuit?
Cross-linking data presents the
storage aspect of the purpose problem already mentioned. Since
one purpose should not entail another, cross-linking, in some
case must not be allowed. The Drafting Group's version says that
"human genetic data collected for scientific and medical
research and health care shall not be cross-linked with data collected
for judicial purposes in civil or criminal proceedings."
There can be no question of using data gathered for medical purposes,
or even in a national genetic census, to track criminals.
---
The very technical issues raised
by genetic data that the IBC will consider in Montreal are very
complex, largely because such data groups both medical and personal
information. On the one hand, people's genetic traits can determine
or predispose them to many illnesses, on the other, as each person's
genetic imprint is unique, forensic scientists and the law can
use it for identification purposes. All this data is sensitive
yet long-lasting (remaining relevant throughout a person's lifetime).
It also provides information about siblings, descendants and more
broadly about the population group the person belongs to.
In view of this complexity, the
IBC Drafting Group chose at its first three meetings to take a
practical approach. It opted for a non-binding instrument - a
declaration rather than a convention - the better to adapt to
a constantly changing environment and to reach consensus more
easily. The discussions in Montreal should allow for further progress.
****
Contact:
Pierre Gaillard
Bureau of Public Information, Editorial Section
Tel. +33 (0)1 4568-1740
During the IBC meeting: +33 615 695 372
e-mail: p.gaillard@unesco.org
For photographs
Ariane Bailey
Tel +33 (0)1 45 68 16 86
