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The Human Genome
THE HUMAN GENOME PROJECT
HAS THE HUMAN GENOME PROJECT FULFILLED
ITS STATED AIMS AND LAUNCHED A NEW
SCIENTIFIC ERA?
WHAT IS THE HUMAN GENOME PROJECT
The word genome, unlike years ago when it was a relatively unknown term,
has become commonly used and understood today by many.
The origin of the word comes from a German word gen which means gene
and ome is taken from the word chromosome.(2)
The Human Genome Project is made up of the United Department of Energy
and the National Institute of Health human genome programs. It is a coordinated effort to characterize the DNA of the human gene.
The focus of the program is to identify, keep a record and sequence genes.
The advancement of genetic knowledge would be used to combat disease,
effect human physiology, manipulate psychology and much more. Some
scientists have gone so far as to claim that the project is the ultimate answer
to the commandment, know thyself(2)ealthh
One of the most significant aspects of the program is that it reverses the way
science is normally done. Usually researches approach a specific problem or
disease and then try and find the cause.(4)
WHAT WERE THE AIMS OF THE HUMAN
GENOME PROJECT
The aim of the project is to facilitate the future understanding of the human
gene function. The project is also carrying out parallel studies on the genetic
make-up of other organisms.(3)
The main aim is to;
-Identify 20-25,000genes in the human DNA
-Determine the sequence of the 3 billion chemical base parts that make-up
the human DNA
-Store information in databases
-Improve tools for data analysis
-Transfer related technologies to the private sector
-Address ethical, legal and social issues which may arise from the project.
EXAMPLES OF THE PROJECT AND THE CURRENT
AND FUTURE BENEFITS OF THE PROJECT
One example is the use of stem cells in curing and combating disease such
as cancer, rheumatism and many more. In time to come cancer and other
diseases will be unknown words to humans. Specific medicine will be
developed to treat a specific disease. Where the disease has been inherited
this can be treated and therefore eliminating that specific disease from
humans.(1)
Another example is the use of DNA testing in forensic investigations. DNA
profiling has become a common tool in trying to solve crimes committed
where no suspect has been identified and is of great benefit to forensic
scientists to make sure the correct criminal is arrested.(5)
By collecting DNA of humans and storing the information in databases would
be beneficial to solving for example a murder where no suspect can be
identified. By taking samples of DNA at the crime scene and accessing these
DNA databases a suspect can be identified.(1)
Any type of organism can be identified by examination of the DNA sequence
unique to that species. When DNA technologies progress further a direct
comparison of very large DNA segments and possibly whole genomes will
become feasible and practical and will allow more precise individual
identification.(1)
To identify individuals, forensic scientists scan 13 DNA regions that vary from
person to person and use data to create a DNA profile sometimes called a
DNA fingerprint. There is an extremely small chance that another person has
the same DNA profile for a particular set of 13 regions.(1)
Some examples of DNA uses for forensic identification are:
-Identify potential suspects whose DNA may match evidence left at the crime
scene
-Exonerate persons wrongly accused of crimes
-Establish paternity and other family relationships
-Identify endangered and protected species
-Detect bacteria and other organisms that may pollute air, water, soil and food
-Match organ donors with recipients in transplant programs
-Determine pedigree for livestock breeds
-Authenticate consumables such as caviar and wine.
RELATED RESEARCH IN SOUTH AFRICA AND ITS
IMPORTANCE
A team of South African scientists recently acquired funding from the
Department of Science and Technology to start the Southern African Human
Genome Programme.(7)
The program is still very new but it aims to make a contribution to the
understanding of DNA amongst African people and eventually prevent
diseases which are common to Africa.
They also wish to develop a database for the storage of genetic data. They
are expecting international interest and funding. Over the last few years a
huge amount of information relating to DNA has left the country to be tested
and analysed in other countries. This program aims to keep that information
in Africa for it to be analysed locally.(7)
Professor Ramsay is involved in the initial setup of the African program and
she says Understanding the pathogenesis of disease in an indigenous
population is best done by the people of that area. Southern Africa has some
very specific patterns of diseases that need to be recognised, studied and
analyses in a local context taking into consideration the population structure
of the region.(7)
Up to this point research on African genomes has not be done to any major
degree. Professor Ramsay hopes that the people trained through the
program will remain in the country and make a contribution locally. Professor
Ramsay says It is a program for southern Africa by southern Africans.(7)
ETHICAL, LEGAL AND SOCIAL ISSUES THAT
HAVE BEEN RAISED IN CONNECTION WITH THE
POSSIBLE APPLICATIONS OF THE HUMAN
GENOME PROJECT
The primary concern is privacy. DNA profiles are different from fingerprints
which are used only for identification. DNA can provide insight into many
intimate aspects of people and their families including susceptibility to
particular disease, legitimacy of birth and perhaps predispositions to certain
behaviours and sexual orientation. This information could lead to
discrimination by government, insurers, employers, banks, schools and
others. A employer may not employ someone based on this information,
which would then be discriminating against that person.(2)
Collected samples are stored in databases and many state laws do not
require the destruction of a DNA record or sample after a conviction has been
overturned. There is a chance that a persons entire genome may be
available regardless of whether they were convicted or not.(1)
Arrestees are often found innocent of a particular committed crime, the
retention of innocent peoples DNA raises significant ethical and social
issues. If peoples DNA is in police databases, they might be identified as
matched or partial matches to DNA found at crime scenes. This occurs with
innocent people for example if a person was at that particular crime scene or
had a similar DNA to the actual criminal.(1)
Police, forensic scientists and researches using the database have access to
peoples DNA without their consent. This DNA could be of a sensitive nature
in families for example disease susceptibility. This can be seen as intrusion
of personal privacy and a violation of civil rights.
Studies of the United Kingdoms criminal database, which retains DNA
samples of all suspects, show that ethnic minorities are over represented in
the population of arrestees and therefore over represented in the criminal
DNA database. This raises the concern of an institutionalised ethnic bias in
the criminal justice system.(1)
Even the most secure database has a chance of being compromised and
information is then available to the wrong people.
PERSONAL VIEW OF THE SIGNIFICANCE OF THE
HUMAN GENOME PROJECT
I feel that the advantages far out-weigh the disadvantages of per suing the
human genome project.
It can eradicate dreadful life threatening diseases as well as inherited mental,
and social disease such as schizophrenia etc. People can be advised not to
have children if there is an abnormality in their genes which could lead to
deformity, mental illness and diseases thereby allowing one to make a
informed choice.(6)
It also assists the Police to hunt down killers and solver serious crime more
efficiently.
However, the disadvantage of storing personal DNA data in a database can
lead to problems. One question comes to mind as to who would have access
to this data and what would the reasons be for assessing this data.
Another problem could be that in the criminal system a convicted killer with a
DNA showing violent behaviour be given a lesser sentence because of the
characteristics of his genes. This will be argued by the defence lawyer on
behalf of his client. The client may say that it is because of his genes that he
committed murder and he had no control over that.
One with a DNA of violent behaviour may also be denied employment. As
DNA runs in families there could be a probability that an entire family cannot
be employed.(2)
The most important concern would be how the DNA profile is done and could
errors not occur during the input of data. One would also have to be sure that
the people handling this data are suitably qualified.
ANOTHER QUESTION THAT COULD ENGAGE YOU
IN FURTHER RESEARCH OF THE LIETERATURE
AND WHICH WOULD CONTRIBUTE TO A BETTER
UNDERSTANDING OF GENETICS
I wonder whether scientists in their eagerness to commercialise products
which are developed from this project, will forget their responsibilities towards
society and will it not be necessary to limit the use of genetic information to
protect privacy of human kind?
CONCLUSION
Although still facing huge challenges The Human Genome Project has come
a long way. One can only agree with Collins that the project is a good
example of the First Law of Technology, wherein the promise of a new
approach is usually overestimated in the short term, but underestimated in
the long term.(7)