Human Genome Project    By Nadia Robinson   Picture: Wellcome Trust Sanger Inst.
 
 

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The Situation investigates how scientists are getting closer to understanding how we have grown to exist, by unravelling the human genome project.

It’s 2015 and you’re sitting in your doctor’s waiting room. The receptionist calls you to the front desk and hands you an envelope. Inside is the prescription for that nasty winter cold you’ve caught along with prescriptions for five illnesses that you are likely to have over the next seven years. Shocked? You might well be, but a science project that has been evolving over the past 13 years, could make this a reality.

“This is the outstanding achievement not only of our lifetime but in terms of human history. I say this because the human genome project, the reading of the book of mankind, does have the potential to impact on the lives of every person on this planet,” declared Dr Michael Dexter, Director of The Wellcome Trust.

The human genome is an international project that officially set out in 1990 to determine the complete sequence of the three billion DNA subunits, identify all human genes and make them accessible through biological study. America’s Francis Collins, Managing Director and Head of the National Human Genome Research Institute headed up the project. So what exactly were Francis and co trying to find out? What have they achieved? And what does it mean to you and me?

The fact is that knowing the entire sequence to our genetic make-up means that scientists have every opportunity to explore the things in our lives that are genetically determined. We already know from school science lessons about the X and Y chromosomes, and how we inherit certain genes from our parents that determine our hair and eye colour, but it is now a huge possibility that having genetic information can reveal and explain our emotions and behaviour. It sounds impossible; after all, up until now we have used sources such as horoscopes to explain why we behave the way we do and our personalities.

Of course, this type of research brings up a number of ethical, legal and social implications, and identifying and addressing these problems has been part of the Human Genome Project since the beginning. The program set aside 3% to 5% of their annual budgets to study the issues surrounding this project. One of the main concerns is over potential misuses of this genetic data in schools, offices and courts, as well as the commercial aspects of such data. Imagine going for a job interview and being asked to provide a breakdown of your genetic make-up. If you had tendencies to have mood-swings or there was the likelihood that you could be struck down by illness, there’s no doubt the chance that they would employ you is lessened. This therefore raised concern over who should have access to personal genetic information and in what capacity it could be used.

Another issue related to the psychological impact and stigmatisation that could arise due to a person’s genetic differences is how society would perceive certain individuals who had certain genes. Would we see gene information become a new sub-culture, and people with certain genes seen as more ‘accepted’ than others? This is not far from current discrimination against those who are disabled. Gene data could also affect the concepts of race and ethnicity – would this change the way people of different races are treated?

The Human Genome Project and other gene-based research therefore opens up a massive discussion surrounding the gathering of information about our genes and how medicine is allowed to use that sensitive data. Soon, we could be part of a society where gene testing is like going for a routine blood test. Reports have claimed that strict controls are needed to prevent companies ‘marketing fear’ in terms of offering tests that are non-conclusive, but may suggest that we are likely to be susceptible to certain diseases.

With the controversy come the potential benefits of the research. There are indeed fantastic benefits, if the research is used ethically and legally. Scientists have the information to look at and understand more complex biological systems. It is of course, a medical revolution. Allan Bradley, Director of The Wellcome Trust said,
“Just one part of this work – the sequencing of chromosome 20 – has already accelerated the search for genes involved in diabetes, leukaemia and childhood eczema.” This in itself is the beginning of a scientific breakthrough in terms of what causes certain diseases, as well as seeking cures.

The original project was due to be completed over a 15-year period, but due to rapid advances in technology, the research was completed two years early (2003). The project goals were:

1. To identify all of the approximately 30,000 genes in human DNA.
2. Determine the sequences of the three billion chemical base pairs that make up human DNA.
3. Improve tools for data analysis.
4. Store the information in databases.
5. Transfer related technologies to the private sector.
6. Address the ethical, legal and social issues that may arise from the project.

The project ended with the successful completion of the human genetic sequence.

The Wellcome Trust Sanger Institute, the only British institute taking part in the project, completed almost a third of the sequence, the biggest contribution by a single institution. Labs from around the world took part in this international project, with the main contributions coming from China, France, Germany, Japan, the UK and the USA. The institutes’ director, professor Allan Bradley commented, “We shouldn’t expect immediate major breakthroughs, but there is no doubt we have embarked on one of the most exciting chapters in the book of life.”

Advances in science have always been controversial. 1978 saw the first child born through InVitro Fertilisation (IVF), and now technology has advanced so much that we are embroiled in the ‘designer babies’ debate, where couples can now choose the sex of their babies. There is no escaping the social, ethical and legal issues that are highlighted when a project like this, which can affect us all, is under development.

The dilemma that we face as members of society is what we think of advances in modern technology. Are scientists tampering with things that they shouldn’t? Should we be leaving these things in the hands of a higher being?

So, it’s 2015 and you’re in sitting your doctor’s waiting room. The receptionist calls you to the front desk and hands you an envelope. Inside should be the prescription for that nasty winter cold you’ve caught. Are you going to open it?


Many thanks to Dr Don Powell at the Wellcome Trust Sanger Institute for providing the image.


Useful links:

The Sanger Institute: Human Genome Project - http://www.sanger.ac.uk/HGP

National Human Genome Research Institute - http://www.genome.gov/Research

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