FAQ

The Human Genome Project (HGP) was an international effort to decode all the letters in our chromosomes. The letters, called bases, are strung out in long molecules called DNA and it is the order or sequence of those letters that is the key.

In the HGP, researchers used techniques to write down, in the correct order, the three billion letters that make up our DNA. Within this vast sequence are the instructions for 'making a person' and clues to what can cause some diseases.

Our DNA holds the instructions to make a human being coded into the DNA sequence. There a four letters in this code, called bases, and it is the order of these bases that encodes the information. Our DNA is three billion letters long, and within that huge sequence are the instructions for making a human being. The instructions used to make molecules in our bodies are called gene; the latest estimates from data produced by the HGP are that we have 20,000 genes. The task of the HGP was to read these genetic instructions and to provide that information to researchers worldwide without restriction and for free. The HGP released all the information it produced each night onto the Internet, to ensure that researchers had access to the information as quickly as possible.

The data are used by researchers to gain new knowledge of how we function, to understand disease and to look for new tests and treatments.

The Project was funded either by the national governments of participating countries or by private charities. The Sanger Institute is funded by the Wellcome Trust; the world's largest biomedical charity whose mission is to improve human and animal health. The Human Genome Project was seen as a good example of work to support researchers worldwide.

The DNA that was sequenced came from anonymous donations made in the USA. A number of people gave a sample of their DNA. Several samples were chosen at random from the selection and these went on to be sequenced. The sequence eventually came from the DNA of several individuals - although about 70% was from one person - the identity of whom is completely unknown.

Everyone's genome sequence has variations. In fact, each of us has two genomes - we inherit one from our father and one from our mother. The Human Genome Project provided a reference sequence: an outline of everyone's genome. We all have a great number of genes in common, for example, the majority of people share the gene that codes for insulin or the gene that codes for haemoglobin.

Everyone also has various individual differences in their DNA code. These differences are known as single nucleotide polymorphisms (SNPs) and copy number variations (CNVs). Several projects worked from the foundation of the human genome sequence to identify and to map individual differences to specific regions of DNA.

In June 2000 the Human Genome Project (HGP) completed the working draft of the human genome sequence. That covered 90% of the DNA sequence to a high level of accuracy. The cost for this phase was about $300 million (about £200 million). The HGP went on to produce the best possible sequence in a process called 'finishing' in which HGP researchers will attack all the most difficult regions. The cost for this stage was expected to be similar.

As well as providing the sequence of the human genome, the HGP produced a map of landmarks on the DNA that is used to researchers to pinpoint genes, has sequenced the genomes of several 'model' organisms, which are used to help understand human biology and has developed techniques to make sequencing more cost-effective. When the HGP started, the cost of 'reading' a single base in the three billion human sequence was between $1 and $10, depending on the size of the laboratory. At the end of the Human Genome Project, it was of the order of 10-20 cents per base, and has continued to drop since.

Simply, no one -- or all of us! The sequences obtained each day at the sequencing centres were sent each day to databases. The databases are held on massive computers in the UK, the US and Japan. These computers provided tools to search through the DNA sequence. They also provided many tools to analyse the sequence information, to help researchers understand the instructions in the DNA code. Although these are complex tools to do a sophisticated job, they are available to all with Internet access for free.

Nothing! The data are there to help academic and commercial researchers produce new ideas to help us fight human disease. The partners in the Human Genome Project (HGP), many other genomics organisations, academic researchers and commercial researchers all welcome the fast release of any sequencing information: the access to the various sites tells us that researchers from all areas continue to retrieve data. That is what it is for: that is why the HGP release was so quick. There is a real need for rapid release and the world's major sequencing centres continue to provide it.

The Human Genome Project (HGP) places human DNA sequence in the public domain every night. Many sites around the world have copies of the sequence. The main databases are held by:

• Resources:
• The DNA Data Bank of Japan - DDBJ
• The European Bioinformatics Institute
• GenBank

Because the sequence contains over three billion characters (and would occupy about 5000 paperback books), printing it would be a huge task! You would need about 300 boxes of paper (A4 or letter) to print out all the sequence. The files that you can download from various sites would allow you to produce a text version that you could print if you wanted to.

Several organisations have suggested that the Human Genome Project partners produce a CD-ROM of the sequence. In fact, the sequence will fit on a CD-ROM only if the files are compressed. Because the files are available publicly, the information can be downloaded and written to a CD-ROM.

In the UK a magazine called Prospect celebrated the human genome draft sequence by producing a CD with the sequence available at the time and a viewer to scroll through it. The CD was given away with the October 2000 issue of the magazine.

The Human Genome Project (HGP) released all its data into the public domain. This publicly available information is not patentable. Indeed, in September 1999, the US President, Bill Clinton, and the UK Prime Minister, Tony Blair, announced they would recommend that basic genetic information should not be patentable. They endorsed this view in March 2000: a widely held consensus existed that sequence data should not be patented. This statement was welcomed by many biotech companies and genomics companies.

Patent law varies internationally. The European Patent Office states that its technical boards are continuing to build up law on the criteria for patenting human sequences. However, patents can be awarded for inventions related to specific gene sequences (the regions of DNA that contain instructions of how to make a protein) and their functions as long as it is new, can be industrially applied and involves an inventive step.

In the US, a preliminary patent application (PPA) can be filed and held for one year on gene sequences. Companies have filed many thousands of PPAs, but they are required to present full applications after the twelve-month period of validity of the PPA. It is not clear how many full patent applications have resulted or will result from the PPAs. After responding to more than a dozen such comments, the Patent Office said the law clearly allowed for genes to be patented, so long as those genes have been "cloned" or reproduced in the laboratory and their function defined. According to a study published in the journal Science in 2005*, one-fifth of human genes have been patented under US law. At that time, more than 60% of the patents were assigned to private firms and more than 25% of the genes to universities. One California-based company's patents covered 2000 genes.

*Jensen and Murray (2005) Science 310(5746):239

• Resources:
• US Patent and Trademark Office
• European Patent Office
• UK Patent Office

Most gene patents are taken out on genes that appear to be important in disease processes. For example, one of the earliest gene patents was for the cloned gene for human insulin: Genentech cloned the DNA in 1978 and the human protein was first marketed in 1982.

It is important to understand that we can identify types of gene that are likely to be important. For example, many genes code for proteins called receptors - the gatekeepers of cells that control the passage of signals into our cells. Receptors are important in cell processes from transmitting nerve impulses to responding to hormones such as insulin. However, many receptors share common features (often they are associated with the membrane around the cell and have special organization to maintain their activity).

We can then see that if we want to identify receptor molecules, we can search our DNA database for regions that share, for example, the membrane-associated regions found in receptors. Such a search pulls out many 'hits', many of which will be genuine receptors - we do not know what they do, but we do know there is a good chance they are important.

Patent law requires that any invention must be novel (never have been made public before), inventive (not obvious to someone with a good knowledge of the subject), useful (could be turned into an industrial product, for example) and not excluded (discoveries, theories and works of art are amongst those excluded).

The idea of patenting oneself has not been tested: however, in February 2000, Ms Donna MacLean of Bristol in the UK filed an application to patent herself, arguing 'It has taken 30 years of hard labour for me to discover and invent myself, and now I wish to protect my invention from unauthorized exploitation, genetic or otherwise. I am new: I have led a private existence and I have not made the invention of myself public. I am not obvious.'

Patents for whole, modified organisms have been upheld in Europe -- including transgenic plants and mice that had been genetically modified to develop cancer. However, the European Patent Office rules out the patenting of an entire human body 'in the individual phases of its creation and development'. The legal arguments on human stem cells, particularly those derived from embryos, continue to evolve.

• Resources:
• Poet attempts the ultimate in self-invention - patenting her own genes (Guardian Unlimited)

Sequences corresponding to the DNA of all of us have already been patented. Organisations that have patented genes argue that they are patenting the gene sequences together with a use for that sequence - not the DNA itself. According to Professor Deryck Beyleveld, director of the Sheffield Institute of Biotechnological Law and Ethics (quoted in The Guardian), 'Under the existing European directive, although nobody can patent my DNA, if you get a patent on a process which produces something identical to my DNA, I can infringe your patent simply by having my own DNA.'

However, the UK BioIndustry Association argues to the contrary: 'The "protection" conferred by a patent is merely the right to stop others commercialising the invention. Neither does a patent confer any right of ownership on the thing being patented, in the same way that the existence of copyright on a piece of writing does not affect the ownership of book containing it.'

• Resources:
• Patenting our genes (Guardian Unlimited)