Ethical Issues for Next Generation Sequencing

Dr Catherine HeeneyInstituto 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

What’s 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. 2009 Public Access to Genome-Wide Data: Five Views on Balancing Research with Privacy and Protection. PLoS Genet 5(10C 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