Next-generation sequencing has become a powerful tool in personalized medicine. Exomes and whole genomes of patients suffering from rare diseases are screened for sequence variants. GeneTalk, a web-based platform, can filter, reduce and prioritize SNPs and assist in the time consuming and costly interpretation of personal variants in clinical context. It serves as an expert exchange platform for clinicians and scientists who are searching for information about specific sequence variants and connects them to share and exchange expertise on variants that are potentially disease-relevant. GeneTalk is available at www.gene-talk.de.

1. Analyze Human Sequence
Variants
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2. www.gene-talk.de
Personalized Medicine
The healthcare system is on its way to
personalized medicine
• Integration and interpretation of different
diagnostic methods and data
• Personalized risk estimation and
prevention
• Tailored therapies
• DNA sequencing as key technology
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3. www.gene-talk.de
Idea and Motivation
• 2 – 3 % of the population are affected by rare
genetic diseases
• Importance of genetic diagnostics
– Identification of cause of disease
– Prevention, prediction and consulting
– Personalized theapies and
targeted medication
– Inheritance and familiy planning
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4. www.gene-talk.de
Decoding of the Human
Genome
• 2001 first human genome
decoded
• 2006 next generation
sequencing technologies
• 2007 first personal genome
decoded
• 2008 first cancer genome
decoded
• 2009 first genetic disorder
diagnosed by exome
sequencing
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5. www.gene-talk.de
DNA Sequencing
Development of sequencing costs and
diagnostic of genetic disorders
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costs of genome
sequencing [EUR]
diagnosed genetic
disorders

6. www.gene-talk.de
Finding the Needle in a
Haystack
• Difficulty:
– 3.000.000 differences (sequence variants) per genome
– Only one can be disease causing
– bottleneck lies in the bioinformatic analysis not in the data acquisition
Person 1 AAATTT healthy
Person 2 AAGTTT healthy
Person 3 AACTTT diseased
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7. www.gene-talk.de
GeneTalk
• Web-based software
– for analysis and interpretation of sequence variants
from next generation sequencing data
– for human geneticists, clinicians, and scientists
• Data base and professional network
– user generated information about sequence variants
– facebook for geneticist, scientists, and clinicians
• Communication platform
– exchange of expertise and knowledge
– assistance in data interpretation and diagnosis
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8. www.gene-talk.de
Customer Benefit
• Save time during data interpretation
• Reduce costs in diagnostics
• Professionalize genetic analysis
• Stay up to date with the community
• Communicate and exchange knowledge
and expertise
• Intuitive useability
• Outsourcing of bioinformatic
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9. www.gene-talk.de
Licencing
Freemium
• Free basic tools
• Fee-based premium services
Annual licenses
• Academic
• Commercial
Additional services
• In-house server solutions
• Genetic reports and Data interpretation
• Full-Service (Sequencing and data interpretation)
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10. www.gene-talk.de
Team of Founders
Peggy Sabri: computer scientist
Peter Krawitz
physician and
human geneticist
Tom Kamphans
computer
scientistAlexej Knaus
biotechnologist
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