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Human Genome Sequencing | Frequently Asked Questions

 

Why does GATC think itself fit to start such a challenging programme?

 

GATC was established in 1990 as Europe’s first sequencing company. At that time we had developed the world’s first non-radioactive sequencing method and participated in numerous EU funded genome projects. During the past 17 years we sequenced close to 100 microbial genomes for research of industry and academia. Today GATC is the only sequencing company worldwide that uses all four leading high throughput sequencing technologies in its own laboratories in Konstanz, with a cumulative capacity of more than 250 Gigabases per year. This is the largest commercially available sequencing platform.

 

 


What is GATC trying to achieve by sequencing human genomes now though the cost per sequenced genome is still prohibitively high?

 

In 1990 sequencing a single DNA base pair was $ 25. Ten years later it was $ 0,25. In 2006 the costs for a base pair were down at $ 0.00075 (GEN, Vol. 27, No. 10, May 15, 2007). This extreme downward trend does not seem to be slowing down.

 

Low-cost, rapid DNA sequencing is a key enabling technology for genetics. GATC is dedicated to helping accelerate the downward cost spiral by applying validated next generation sequencing technologies to human genome projects. Only by utilising the available technology with real projects it can be improved and optimised in order to further increase productivity and efficiency and to decrease costs. We cooperate closely with the leading manufacturers and therefore have our fingers on the pulse of development.

 

And, last but not least, by sequencing more and more human genomes within the coming years GATC will contribute considerably to the growing knowledge and understanding of  common diseases that will lead to new strategies for diagnosis and therapy.

 

 

 

For which customers is GATC's offer interesting and why?

 

We primarily address basic research groups of academia and industry, e.g. clinical genetics, pharmacogenetics, immunogenetics, which need to know more about the previously understudied non-coding regions of the genome. There is, for example, growing evidence implicating these areas, which comprise 98.5% of the human genome, in e.g. oncogenesis and metastasis.

 

 


Why does GATC want to sequence whole human genomes rather than just examining individual differences via genetic tests when there is little genetic variation over much of the genome?

 

Genetic tests focus on a very limited range of conditions presently known. They analyse only 1.5% of the genome considering only the genes known to date to be important in disease. Genomic regions discovered in the future are not part of this analysis. However, the scientific community is increasingly coming to the conclusion that the so-called “junk DNA” also plays an important role in regulation of gene expression and development. The analysis performed by GATC is therefore meant to provide a much more thorough analysis.

 

The complexity of the process is due to the enormous amount of information sequenced and is not comparable to a simple genetic test. The human DNA is composed of 3 billion building blocks, which are then individually sequenced. GATC is the only company which provides all validated technologies for DNA sequencing in their laboratories. Experts in human genetics, who work in collaboration with GATC, support the analysis process.

 

 


Will companies and research institutions be able to afford to sequence one or more genomes?


Yes. The more genomes to be sequenced, the less expensive each genome becomes. The manufacturers are continuously improving their technologies and GATC is continiously improving the efficiency of the sequencing methods. Current prices vary depending on the required accuracy. Each project will be customised depending on what aim the partner is trying to achieve.

 

 

 

Why would pharmaceutical companies go into partnership with you ?

 

Pharmaceutical companies have already started to join forces with academic researchers and government authorities. For example, the SAEC (International Serious Adverse Events Consortium) examines genes to discover why drugs are helpful for some patients, but can turn out to be life-threatening for others. We are convinced that strategic partnerships are necessary to efficiently advance this research. Each partner can only provide a piece of the puzzle. As already mentioned, the scientific community increasingly believes that the non-coding regions of the DNA have an impact in regulation of gene expression and development.  This task can only be completed successfully with global teamwork.

 

 


What would be the cost of the “cheapest” genome?


Theoretically speaking, this would be a project with a 1-fold coverage. The coverage determines the accuracy. A 1-fold coverage means that most base pairs (of the 3 billion base pairs) are sequenced but many would still remain unsequenced. The price for a project of 3 gigabases of raw data (theoretically 1-fold coverage) would be less than Euro 100.000. However, for serious research a 10 to 20-fold coverage is required which then allows a thorough and statistically significant bioinformatic analysis.

 

 


What types of bioinformatic analysis will be performed with the genome data?


The first step is to map the new genome to the existing genomes in the databases. In cooperation with our industry and academic partners we will perform customised analysis, e.g. identification of disease genes, of genes involved in complex traits, of unique differences between individuals and even between closely related individuals.

 



Why would a private person have his/her genome sequenced at this early stage?

 

We primarily address the academia and the industry (e.g. pharma, pharmacogenetics and diagnostics) worldwide. Nevertheless, we welcome individual pioneers who would like to join us in this exciting programme. By participating you will not only be part of an historic event and be one of just a few individuals in the world who already sequenced their genomes, but you might also be able to answer some health-related and genealogy questions in the near future. Security and privacy are of utmost importance so that you may stay completely anonymous if you wish. Naturally, your genomic data will be your sole property.

 

 


What happens to the stored DNA data after project completion?


This is at our partners’ discretion. Once a project is completed, we will delete all data from our computer servers, if desired, and destroy all biological material according to biological safety standards.

 

 


What about ethical concerns with regard to human genome sequencing?

 

Many national and international ethical bodies have come out in favour of human genome sequencing and personalised medicine, emphasising its life-saving potential (e.g. the German National Ethics Council (page 23/24), Portugal's Conselho Nacional de Etica para as Ciencias da Vida (National Ethics Council for life sciences) UNESCO). The ethical concerns raised are mainly about ensuring patient consent, maintaining confidentiality and reducing the risk of discrimination due to the higher prevalence of certain diseases within some racial groups. These issues are already very familiar to responsible biomedical researchers – personalised medicine raises no new concerns. As a responsible company, GATC will adhere to all existing national and international legislation, and will follow good practice in the industry.

 

 

 

How can I receive more information?

 

Please contact us in writing. We will answer you as fast as possible.

 

 

Click here to learn more: "Why whole genome sequencing?"

 

 

 

 

Customer Inquiry Switchboard please dial +49 7531 81 60 12

 
 
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