The Human Genome

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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 co-ordinated 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)

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