In the year

1953

J.D. Watson and F.H.C. Crick proposed their DNA molecule model

1985

the Polymerase Chain Reaction (PCR), an essential technique for genome studies was first described and the Human Genome Project emerged

1987

first human genetic linkage map was published

1990

the first gene therapy trial was launched

2000

everybody will know his genetic profile based on 20 to 50 genes, the rich will become healthier and the poor sicker

2010

individual genetic profiles will be extended to 5,000 genes

2030

everybody can get his genome sequenced at the pharmacy and take a CD-ROM home to study his complete gene profile (50,000-150,000 genes) on a home computer

(Fowler 1995, Goodfellow 1995)

The Human Genome Project

First initiatives to sequence the human genome started in 1984, the official beginning of the Human Genome Project (HGP) was in October 1990. Originally launched in the United States, the project is international in structure. Coordinating efforts in European countries particularly include the United Kingdom, France and Italy. The project, originally targeted at sequencing the whole genome, has slowly shifted to providing a complete structural catalogue of human genes and has increasingly considered related subjects like training, ethics etc. Ethical discourse is not a point of blockage in regard to machinic development. Without question, it is in the interest of pancapitalism to rationalize the flesh, and consequently it is in the financial interest of big science to see that this desire manifests itself in the world.

Perhaps the greatest impact of the Human Genome Project will be the ability to characterise the genetic bases for multifactorial diseases like cancer. The initial 5-year goals of the U.S. Human Genome Project are listed in the annex.

 

Basic Principles of Human Genetics

  • The human genome consists of roughly 3 billion base pairs, distributed among 24 distinct chromosomes. The genome is the entirety of all genetic information of an organism. Genetic information is encoded as a sequence of different base pairs in DNA strands.
  • Genes make up only 3% to 10% of the human genome (Green et al. 1995); the rest keeps them in order, controls their expression and so on. Genes are the basic hereditary traits, the 'transcription units' separately read by the organism.
  • Current estimates range between 50,000 and 150,000 human genes (Green et al. 1995, OTA 1993).
  • Genetic variation, including mutations causing disease, appears in 1% of all genes. In respect to the remaining 99% humans are genetically identical (Green et al. 1995).
  • Despite this conservative character of genes individuals differ from each other in respect to an average of over one million nucleotides, making everyone except identical twins genetically unique (OTA 1993)

The State of the Art in Human Genome Analysis

Only 0.1% (Green et al. 1995) to 0.2% (ESHG 1995) of the total number of base pairs have been analysed so far (DNA sequence map). However, data from other model organisms (yeast, mouse) can, to a certain degree, be applied in human genetics. Sequencing is steadily becoming faster and several intermediate steps in the human genome analysis have already been achieved, often more meaningful for the diagnosis of diseases than sequence data without knowledge of their function:

  • 5300 genetic markers (specific sequences to recognise sections of the DNA) have been developed for the human genome by a single private company (Günüthon, May 1995, see Nowak 1995), compared to 814 markers known in October 1994 (ESHG 1995).
  • The human genetic linkage map (indicating the degree of linkage of genetic markers) has been completed, providing the basic tool to find and sequence almost any human gene.
  • 50% of the physical map (indicating exact distances between the markers) is accomplished (May 1995).
  • There is information on >6300 human genes (5-10% of the estimated total number) of which 2800 have been assigned to individual chromosomes and ~1200 have been obtained in cloned form (Green 1995)
  • Roughly half of the ~6300 genes are known to be involved in disease (Green 1995)
  • Currently existing genetic tests have the potential to detect genetic disorders in 42% of the human population.

One new gene is discovered every day (Fowler 1995)