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

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

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’

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)

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

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

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

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 onset conditions

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

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

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)

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

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

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)

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

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

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

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

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

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

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

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

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

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

Verification Study

Consumer Study

Verification Project

Third Party Study

Legal Systems Study

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

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

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

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?

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

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

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

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

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

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

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

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