Securely storing and interpreting the genome

Avoiding the Gattaca scenario
April 22, 2013

At a time when sequencing the genome is becoming democratized, questions have arisen about the interpretation of these data and their secure storage. Sophia Genetics, an EPFL Science Park start-up, specializes in this area.

Complete sequencing of the genome will soon enable personalized treatments. Moreover, new prescription drugs based on genetic markers are coming on the market. Given the drastic reduction in the cost of DNA analysis, it may even be possible before long to know each person’s predisposition to certain diseases, allergies, and food intolerances.

With the company’s “health bank,” a DNA sample can be taken during a medical examination and sent to a specialized laboratory for extraction. The young company based at the Ecublens Science Park has raised 2.8 million francs for development. It is.already being used by a dozen hospitals and laboratories in Switzerland.

Once sequenced, the data is transmitted to Sophia Genetics for bioinformatics analysis. The geneticist then has access to a visualization tool to help interpret the data. Other applications for viewing and performing electronic biopsies of all parts of the genome are currently being developed.

How is it possible to ensure that a person’s genetic information will not be disclosed, for example to insurance companies and employers? The company has worked to standardize and automate the analysis and storage of data in two data centers in Switzerland and is developing a high security storage system that may be necessary in the future.

One of the main elements of confidentiality is to provide the patient with a cryptographic key that comes in two parts for each sequencing. The patient would give one part to Sophia Genetics and the other to the physician so that the data could only be read when the patient has given consent.