HEALTH CANADA SCIENCE AND POLICY ROUNDTABLE Genetic Discrimination

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

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

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

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

Project Aims w Essentially to address the gap in data: n n n 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

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

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

Consumer Survey w Key challenge to explore prevalence of genetic discrimination in Australia; achieved through survey of a defined population w 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 onset conditions

Consumer Survey - Respondents w 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 w 951/1185 (80%) respondents met asymptomatic inclusion criteria w Neurological disorders and familial cancers were relevant to the majority (87%) of respondents

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

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

Recommendations from Consumer Study w Need for: n n 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

Third Party Study – Life Insurance w Industry initiated data collection within life insurance sector (IFSA and IAAust) since 1999 w 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

Findings from Life Insurance Data w A genetic test result was disclosed in applications for life insurance by 288 individuals w 234 valid cases following exclusion of cases where information was incomplete w 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)

Findings - (Life Insurance) Data (cont) w For negative genetic test results-outcomes ‘standard’ w Particular scrutiny of underwriting re positive genetic test results, whether justifiable w Issues of concern: n n n 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

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

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

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

Findings from Employer Study w No evidence of systematic use of genetic information by Australian employers for screening purposes: n n n 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 w Low interest in use of genetic testing as a screening mechanism for the future (even if inexpensive and accessible) n 27 respondents (7%) would use genetic testing to screen and 35 respondents (9%) would use it to monitor employee health if inexpensive & accessible

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

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

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

Conclusions on Legal System Data and Recommendations w Should not confuse lack of uptake of legal remedies as evidence that genetic discrimination is not occurring w 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 w Need to support aggrieved individuals to have access to legal remedies eg through an advocacy support service

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

Verification Study

Verification - Findings w 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: n n 8 involved underwriting decisions in life or general insurance applications 2 involved pressure to have genetic testing

Conclusions on Verification Study and Recommendations w Lack of understanding of genetic issues on the part of third parties appears to be a key factor w Urgent need for polices and guidelines to ensure n n n 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

Overall Conclusions on the GDP w The GDP provides evidence of genetic discrimination occurring in Australia and insight into how complex the issue is to research, document and verify w Numbers of identified incidents are small but the problem is aggravated by the ‘fear-factor’ w 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 w GDP provides baseline data to help monitor future regulation & contribute to future policy development and law reform

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

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

Whole Genome Sequencing w Reveals a person’s whole genetic profile, although only some of this information is presently understandable w 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 w Real concerns about whether people understand the full implications of undertaking this extensive form of genetic testing

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

Direct to Consumer Genetic Testing w Presents a host of problems and ethical concerns w Primary issue – lack of regulation and borderless nature of access and distribution w Risks to consumers n n n 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 onsell clinical data

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

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

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

Acknowledgments w GDP Team w All research participants w Expert Reference Group members and national and international consultants w ARC discovery grant #DP 0208853 w For contact – see GDP website: www. gdproject. org