Ethical Issues for Next Generation Sequencing Dr Catherine Heeney Instituto Filosofía CSIC, Madrid

Does NGS bring with it specific ethical issues or simply augment or offer a new perspective on those already in existence? The new contexts for advances in biotechnology and science Some ethical Implications: Private uses and privacy claims

More of the Same? How useful is it in terms of its claims about disease basis – Health research budgets – Focus on junk food and sedentary lifestyles Feedback and incidental findings Private sector Privacy

Whats new? Ahead of – supporting and sense making technologies Need to validate results of computational analysis empirically (i.e. in the lab) – applications – regulations More data for less Growing suite of reference datasets, techniques and tools

at some point, a critical mass will dramatically change the value of any individual initiative providing the potential for proactive rather than reactive personal health care Levy et al 2007

Changes in contexts Bigger Picture – Commercially useful – More information available – Open Access Smaller Picture – Knowledge of scientific context – Relationships with research participants – Stewardship

Public Knowledge/Private Interests Private sector uses debate – 23andme – Health care – Availability/exclusion Privacy debate – Inference – Protecting participants or citizens

The power of inference Identification from aggregated anonoymised data (Homer et al 2008) Iterative comparison between ancestry datasets and datasets containing genetic information (Gitschier 2009) Filling in withheld data using inference from available data (Nyholt et al 2009) Shared traits in populations - Genetic anonymity, have we already lost it? (Greenbaum et al 2008)

The Data Environment Reference populations – overlapping sources of information on the same population Comparison between datasets Imputation of missing or non-available data Use of technology – process of discovering relationships between traits – the production of group profiles Reducing the chances of being wrong

Last generation ethical issues? Confidentiality and Consent? – The problem of anonymisation – Unpredictable secondary uses Hidden discrimination – Lack of visibility – Legal grey area Trust – Reliance on good will of the public (P3G et al 2009)

J Kaye, C Heeney, N Hawkins, J de Vries & P Boddington 2009 Data-sharing in Genomics: Reshaping Scientific Practice Nature Reviews Genetics P3G Consortium, G Church, C Heeney, N Hawkins, J de Vries, et al Public Access to Genome-Wide Data: Five Views on Balancing Research with Privacy and Protection. PLoS Genet 5(10 C Heeney, N Hawkins, J de Vries, P Boddington & J Kaye 2010 Assessing the Privacy Risks of Data Sharing in Genomics –Public Health Genomics March 29