HEALTH CANADA SCIENCE AND POLICY: ROUNDTABLE

2. HEALTH CANADA SCIENCE AND POLICY: ROUNDTABLE Genetic Discrimination and Privacy and Policy Implications in the Context of the New Genetic Technologies Professor Margaret Otlowski Ottawa, April 2010

3. Overview • Exploring ‘genetic discrimination’ and privacy implications • Reporting data from the Australian Genetic Discrimination Project • Wider implications – ‘fear factor’ • Multi-facetted approach required to tackle the problem • Policy implications in light of new genetic technologies and personalised medicine: • whole genome sequencing • pharmacogenomics • prenatal genetic testing and • direct-to-consumer genetic testing

4. Genetic Discrimination and Privacy • Genetic discrimination defined as differential treatment of an asymptomatic individual on the basis of assumed or real genotype • Debate about its existence and extent – a real problem or just fear mongering? • Limitations of available data – mostly anecdotal and unverified cases and prevalence difficult to establish and challenges in getting accurate data • Privacy dimensions – ‘genetic privacy’

5. Genetic Discrimination Project (GDP) First empirical, nationwide, interdisciplinary project into genetic discrimination in Australia (with Taylor and Barlow-Stewart) Funded by Australian Research Council 2002-2005 Multi-disciplinary Expert Reference Group and key consultants Strong ethical underpinnings – Human Research Ethics Committee approvals (see: www.gdproject.org)

6. Project Aims • Essentially to address the gap in data: • Document the nature and extent of genetic discrimination in Australia • Examine the social and legal implications of genetic discrimination and facilitate greater understanding of this issue • Contribute data for use in future policy development and law reform

7. Study Design • Triangulated data collection: • Consumers via clinical genetics services and genetic support groups • Third parties insurers and employers and their peak bodies • Legal system via anti-discrimination tribunals and other bodies • Verification of alleged consumer accounts with third party

8. Consumer Study • Aim: to investigate genetic discrimination from the perspective of ‘consumers’ - individuals’ experiences and perceptions • ‘Consumers’ - persons who are assumed to have genetic risks or predispositions • Must be asymptomatic at time of alleged discriminatory practice • Data collection included a survey of consumers

9. Consumer Survey • Key challenge to explore prevalence of genetic discrimin-ation in Australia; achieved through survey of a defined population • Systematic investigation by survey of adult individuals (2300+) who have accessed selected state based clinical genetics services in Australia for predictive genetic testing in 1998-2003, for designated mature onsetconditions

10. Consumer Survey - Respondents • Of 2362 individuals who received a questionnaire, 1185 responded (51%) & many of these opted to give identifying information about their experiences and permit follow up • 951/1185 (80%) respondents met asymptomatic inclusion criteria • Neurological disorders and familial cancers were relevant to the majority (87%) of respondents

11. Consumer Survey - Findings • Specific incidents of alleged negative treatment reported by 10% of respondents (93/1185) occurred in the following domains: • life insurance 42% • employment 5% • health 20% • family 22% and • social 11% • 56/93 respondents interviewed regarding alleged negative treatment

12. Consumer Survey – Findings (cont) • 44 incident reporters (48%) questioned the negative treatment while 47 (51%) sought no support or advice • Only a minority of respondents (15%) knew where to complain to officially if treated negatively because of genetics issues • Main areas of impact from discrimination were emotional and financial (related to insurance)

13. Recommendations from Consumer Study • Need for: • Widespread education in community and clinical settings about genetic discrimination in order to prevent its occurrence • Clear and well resourced pathways for individuals to request clarification, support, or review should they encounter negative treatment

14. Third Party Study – Life Insurance • Industry initiated data collection within life insurance sector (IFSA and IAAust) since 1999 • GDP negotiated to purchase original survey data for independent analysis of all recorded cases where a genetic test was disclosed for the period August 1999-April 2003

15. Findings from Life Insurance Data • A genetic test result was disclosed in applications for life insurance by 288 individuals • 234 valid cases following exclusion of cases where information was incomplete • In 114 cases (49%) the genetic test result was described as the only influencing factor (77 cases involving negative genetic test results and 37 positive genetic test results)

16. Findings - (Life Insurance) Data (cont) • For negative genetic test results-outcomes ‘standard’ • Particular scrutiny of underwriting re positive genetic test results, whether justifiable • Issues of concern: • variable approach to underwriting for Huntington Disease risk; • re breast/ovarian cancer – expansive exclusions, and apparent disregard for prophylactic steps; • lack of consistency in involving specialists knowledgeable about genetic risk

17. Conclusions from Life Insurance Study • Majority of adverse underwriting decisions justifiable in light of genetic test results • Value of predictive genetic testing to assist some applicants to get standard cover • Some anomalous results & inconsistencies but no evidence of this being widespread • Importance of expert clinical genetic advice to guide under-writing decisions

18. Recommendations - Life Insurance Study • Education of insurers to obtain clinical genetic advice in contentious cases • Education of consumers to be proactive in involving their medical specialists in supporting their life insurance applications • Importance of insurers giving clear reasons for adverse underwriting decisions to help address consumer mis-conceptions/misapprehensions • Consumers’ right to appeal or query insurers’ decisions should be reinforced

19. Third Party Study – Employment • Involved document analysis (policies, guidelines etc), surveys and follow up interviews • Sampling: choice of Business Review Weekly (2002) ‘Top 1000’ and ‘Fast 100’ for survey of employers • 381/1,065 respondents (36%) • Survey included questions about practices and attitudes regarding the use of genetic information

20. Findings from Employer Study • No evidence of systematic use of genetic information by Australian employers for screening purposes: • None of the respondents reported asking for genetic tests to be undertaken • Only 1 respondent reported asking for an existing genetic test result as part of a screening process • 24 respondents (6%) asked about family history when screening employees • Low interest in use of genetic testing as a screening mechanism for the future (even if inexpensive and accessible) • 27 respondents (7%) would use genetic testing to screen and 35 respondents (9%) would use it to monitor employee health if inexpensive & accessible

21. Recommendations - Employer Study • Although as yet an emerging issue, findings from the Consumer Study indicate that genetic discrimination in employment does occur • Potential remains for workplace genetic testing to expand, particularly if there is pressure from external sources • Note 6/381 respondents reported that they are required by a third party to ask applicants/ employees about their predisposition to genetic conditions • Important that safeguards are put in place to guard against inappropriate use

22. Legal System Study • Aim: to explore and document use of existing legal avenues for pursuing complaints of genetic discrimination • Involved full population study encompassing all Australian anti-discrimination tribunals, commissioners, ombudsman, and employment tribunals (33 in total) • Entailed periodic contact with all relevant tribunals and other bodies with a 100% response rate

23. Legal System Data - Findings • Two respondents advised that they had received a complaint involving an allegation of genetic discrimination. One additional case was identified through the Consumer Study. • Case 1 Discrimination in employment based on asymptomatic genetic status • Cases 2 & 3 - pressure to undertake pre-symptomatic genetic testing for HD

24. Conclusions on Legal System Data and Recommendations • Should not confuse lack of uptake of legal remedies as evidence that genetic discrimination is not occurring • The integrated nature of the GDP has highlighted not only that reported incidents are occurring, but also some of the barriers to pursuing the option of litigation • Need to support aggrieved individuals to have access to legal remedies eg through an advocacy support service

25. Verification Study • Aim: to systematically undertake verification of alleged cases to discover the basis for decision-making and whether justified • Brought together findings of all GDP studies through verification of allegations that potentially amounted to genetic discrimination • Included document analysis, confidential interviews with consumer and, where appropriate, with the relevant third party

26. Verification Study

27. Verification - Findings • 20 cases for potential verification were identified: of the 14 cases which could be proceeded with, 10 met the definition of genetic discrimination and could be verified: • 8 involved underwriting decisions in life or general insurance applications • 2 involved pressure to have genetic testing

28. Conclusions on Verification Study and Recommendations • Lack of understanding of genetic issues on the part of third parties appears to be a key factor • Urgent need for polices and guidelines to ensure • appropriate use of genetic test results in insurance underwriting • promote education & training in financial industry • provide support for consumers and health professionals challenging adverse decisions

29. Overall Conclusions on the GDP • The GDP provides evidence of genetic discrimination occurring in Australia and insight into how complex the issue is to research, document and verify • Numbers of identified incidents are small but the problem is aggravated by the ‘fear-factor’ • GDP findings link in with the work of the Australian national Inquiry and the Essentially Yours Report recommendations for protecting privacy of human genetic information • GDP provides baseline data to help monitor future regulation & contribute to future policy development and law reform

30. Policy Implications in the Context of the Ethics of the New Genetic Technologies? • Scope of consideration includes pharmacogenomics, whole genome sequencing, prenatal genetic testing, and direct-to-consumer (DTC) genetic testing • Drivers for the new genetic technologies and modes of delivery in personalized medicine?

31. Pharmacogenomics • Enormous potential but will not be a panacea for all • Ethical issues include resourcing – limited capacity to pay and resulting unmet expectations • Potential for genetic discrimination on the basis of genetic testing for pharmacogenomics? • Concerns if this form of genetic testing is not undertaken through health professionals but through DTC genetic testing

32. Whole Genome Sequencing • Reveals a person’s whole genetic profile, although only some of this information is presently understandable • Because of the comprehensive extent of this kind of genetic testing, there is greater risks of genetic discrimination and infringement of a person’s privacy • Real concerns about whether people understand the full implications of undertaking this extensive form of genetic testing

33. Non-invasive Pre-natal Genetic Testing • New techniques (testing of foetal DNA/RNA extracted from maternal plasma) has expanded opportunities for non-invasive pre-natal testing. • Raises questions about what conditions are appropriate to screen for prenatally and potential discrimination issues • Wider implications for the community with regard to attitudes to disease and disability

34. Direct to Consumer Genetic Testing • Presents a host of problems and ethical concerns • Primary issue – lack of regulation and borderless nature of access and distribution • Risks to consumers • Misplaced reliance on results - don’t measure up on the ‘ACCE’ criteria • De-medicalisation of genetic tests and lack of counselling • Difficulties in interpreting results • Potential for ill-informed decision-making • Issues of privacy and consent • Potential conflict of interest of companies which also engage in ‘research’ or on- sell clinical data

35. Direct to Consumer Genetic Testing (cont) • Challenges in regulation -impossible to prohibit inter-nationally • Efforts focused on other initiatives aimed at regulation and protecting consumers: • Consumer education • Enhanced consumer protection • Human Genetics Commission Proposed Framework of Principles • NIH initiative re Genetic Testing Registry

36. Broader Issues and Challenges • Challenge of integration of genetic information into public health • Upskilling of health professionals required to ensure understanding of the usefulness of genetics in contemporary medicine • Relationship with the developing health environment, including introduction of electronic health records

37. Conclusions • Genetic discrimination remains an issue of concern, particularly given the apparently extensive ‘fear factor’ • Expansion of the range and forms of genetic testing has exacerbated this risk and we need to proceed cautiously • Legislation can play a key role to provide safeguards and enhance consumer confidence • Multi-facetted solutions are required including a key role for education

38. Acknowledgments • GDP Team • All research participants • Expert Reference Group members and national and international consultants • ARC discovery grant #DP0208853 • For contact – see GDP website: www.gdproject.org