Privacy Enhancement in Data Management in E-Health for Genomic Medicine Short Overview of the PRIDEH-GEN Project

1. – Custodix R&D – Privacy Enhancement in Data Management in E-Health for Genomic MedicineShort Overview of the PRIDEH-GEN Project Ir. B. Claerhout

2. Overview Overview of the PRIDEH-GEN presentation: • Introduction • PRIDEH-GEN: a Synergy Between PRIDEH and INFOGENE • Why and How study the PRIDEH-GEN subject? • Privacy Enhancing Techniques • In Theory and Practice • Genomic Data • Its Privacy Sensitive Nature • PRIDEH-GEN Background • Possible Solutions • Example Case

3. The PRIDEH-GEN Project PRIDEH-GEN (IST 2001-38719 Sept. 2002 – April 2004) Privacy Enhancement in Data Management in E-Health for Genomic Medicine Cluster project between: • PRIDEH (IST-2001-32647) Privacy Enhancement in Data Management in E-Health • INFOGENE(IST-2001-33402) Interactive Platform For GENEtic profile construction, decision and support For more information: http://www.prideh-gen.custodix.com/

4. PRIDEH & INFOGENE PRIDEH (IST-2001-32647) • Take-up action, aiming at a rapid and efficient take-up of Privacy Enhancing Technologies in healthcare and beyond • The main goals of the PRIDEH project were: • To create awareness about today’s privacy threats • To demonstrate the available technical solutions • Project successfully terminated last year… INFOGENE(IST-2001-33402) • Linking of Personal Digital Assistants (PDAs) to a web-based system to guide users in registering their personal genetic profile and family disease history • Providing confidential personal advice pertaining to people’s individual health conditions

5. WHY? Privacy and Genomics Why study Privacy and Genomic Medicine as a special case? • Because of the nature of genetic data • Genetic data has features that are known to be a problem for privacy (difficult to protect)(e.g. the high information content, the high level of discrimination) • Genetic data has features that are not found in other types of data(e.g. the fact that information, that no-one knows of yet, is in there) • The high social impact of the information that can be extracted from genetic data • Abuse by insurance companies, employers (social exclusion) • Reproductive selection • Because the use of genome related data is increasing exponentially(increased use in research and medical care, due to fast evolving science)

6. Integration into: “Privacy Protection Guidelines for Genomic Medicine” HOW? Combined Knowledge… PRIDEH INFOGENE Privacy Enhancing Technologies Genomic Medicine Genetic Information e-Security Inventory Report on Privacy Enhancing Techniques Inventory of the Privacy Protection Needs

7. Privacy Enhancing Agents Application Specific Techniques Controlled Database Modification Privacy Risk Assessment Privacy Gauging Distributed Mining Diagnostic Gauging Hard De-Identification Data Flow Segmentation Anonymisation Techniques PETs: A Range of Technology

8. PETs: Theoretical Approach

9. PETs: Privacy Protection in Practice Applications of PETs are numerous: • Clinical trials • Disease studies • Exchange of sensitive (research) data • Daily privacy protected handling of sensitive data(e.g. hospitals, insurance companies, …) • Market research studies • Anonymous sharing of information • … In Healthcare PETs are focused on “Medical Information” but are actively deployed! e.g. Pseudonymisation services

10. Increasing Privacy Risk No privacy risk More info on a single individual + links to other databases Genome Data Collection Genome data collection: • DNA Banking • Non-univocal (e.g. Ensembl, GenBank, …) • Demand for larger sequences (inter-gene relations) • Medical and Pharmacological Research(e.g. Disease Analysis) • Follow-up of individuals • Link between genetic data and other medical, environmental data • Medical Treatment • Personal follow-up for direct caree.g. Genetic tests

11. The Sensitive Nature of Genetic Data Genetic data is so sensitive because: • DNA molecules hold extensive information about a person’s probable medical future • Genetic data analysis provides information not only about an individual, but also about his relatives • As the DNA is relatively stable, it can become the source of an increasing amount of information as more is learned about genetic code • The full extend of the information included in the DNA data is not known yet(there is still a lot to be discovered about the information content of DNA, while the complete dataset is already available) • Genetic information and its impact is largely unknown to the general public (easy to get so called “informed-consent” or “ill-informed” consent)

12. The Sensitive Nature of Genetic Data Compared to other (medical) data: • DNA contains more information(probable medical future, about relatives, …) • Which is sensitive as such • And is also a tool for re-identification • IT-related: easier to store, disseminate and analyze(Think of the mathematic nature of sequence data) • It is harder to control access to DNA data (Future promise of the 150,- € genome?) Within PRIDEH-GEN Geneticists: • Identified hereditary genetic information as making the difference • Are aware and worried about the impact of abuse • Clearly expressed their concern and feel a need for PETs

13. Cost ? Usability Privacy Protection The Difficulty of Introducing PETs • BUT… • Not everyone adheres the same strict codes of conduct (ethics) • There is a trend towards integration of all (Bio)-medical informationi.e. Increased Risk • There are often no funds (or time) available for extra security and privacy measures (general problem) • PETs are not yet fully matureThey can however increase the effort needed to re-identify someone beyond the reasonable but cannot be considered unbreakable • The right balance between the individual rights (privacy) and the possible benefits for society (usability of information) is often difficult to find

14. Genetic Data and the Re-Identification Model Current and future (expected) genetic data available should be mapped onto the generic re-identification model for analysis of the problem An important concern determining for multiple scenarios is: The link between Genotype and Phenotype This is an important subject of research, not only medical, but also data processing

15. Connecting Genotype and Phenotype Available in databases Modifier Genes Genotype Phenotype Environment • Sensitive information on itself(Information which should be protected) • Tool for re-identification (observable data) • Matches with other databases (medical) • Direct observable traits • … Future… If directly observable, a major privacy issue! • Available to people working in medical labs (policy) • What about the 150,- € genome?Ref. 1997 Movie ”GATTACA” Written by Andrew Niccol

16. Current Work Within PRIDEH-GEN • Real-life Case: • In a Belgian genetic center connected to a hospital… • The Hospital is introducing a new Hospital Information System (HIS) integrating all information of the visiting patients • There is no fine grain access control or any Privacy Protection measures in place • The Hospital wants to link the genetics center database to the central database Geneticists refuse, but… • They need to defend their case (PRIDEH-GEN arguments) • Provide workable technical solutions as a compromise (PETs?)

17. Summary Privacy and Genomics: • The Privacy Problem in Genomic Medicine is very complex • Complexity (and privacy risk) increases with the integration of Medical Informatics and Bioinformatics (BioMedical Informatics) Privacy Protection for Genomic Medicine will have to be composed of a combination of measures: • Privacy Policies(both modifications of existing ones and completely new ones) • Existing PETs • Direct application and assessment of their performance • Modification and application of the principles involved into the Genomic domain • PETs specifically designed for treating genetic data(Which could be used for other data in a later stage…) • Efficient integration of policies and PETs

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