Increase in genetic information presents challenges for society

Published 01.11.2013

Increase in genetic information presents challenges for society

Sequencing the genome is becoming increasingly common in genetic diagnostics. This brings with it major opportunities but significant challenges as well, says Kristiina Aittomäki, Chief Medical Officer at HUSLAB, the laboratory enterprise of the Hospital District of Helsinki and Uusimaa.

Our genomes include a lot of variations that affect our health risks as well as the effectiveness and side-effects of medication, for example.

– Challenge number one is to interpret the data. We need more information on the significances of the variations, increasingly effective methods to analyze the data and more cooperation between clinical geneticians, Aittomäki stated in her address at the Laboratory Medicine and Exhibition event.

Another issue is the vastness of data. Processing the information may require a whole new group of specialists – bioinformaticians. In addition, secure storage of data will need to be addressed.

A third challenge revolves around incidental findings: when the entire genome is sequenced, the genomic study may unintentionally produce incidental findings.

– What are the implications when a variation that increases the risk of breast cancer is found in a child, or when a young person has the Huntington’s disease mutation? A good deal of thought is given to these kinds of issues everywhere.

How will data security be ensured?

Accessing the genetic data in all clinical situations where the information might be useful, poses another challenge. According to Aittomäki, this is a problem for patient information systems in particular.

All in all, the increased amount of genetic information is a challenge for society.

– Where and for how long will the vast amount of highly personal information be stored, who can access the data and how will data security be ensured. How can genetic discrimination be prevented, for example, when hiring employees and granting insurance cover?

Although there are a lot of issues, Aittomäki sees that the opportunities provided by genetic information outweigh the downsides.

– Sequencing the entire genome effectively provides a lot of information that can greatly benefit our health, she says.

Text and photo: Virpi Ekholm

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