Public attitudes towards genetic testing
and the use of genetic information
Dr. Lidewij Henneman
[email protected]
Research Programme >
9 Nov 2012
Quality of Care
Dept. of Clinical Genetics,
section community genetics
Overview
• General attitudes towards genetic testing
• Perceived consequences of genetic testing
– general public
– families at risk
• How to proceed?
Growing number of genetic tests
Type of genetic tests
• Carrier testing
– e.g. cystic fibrosis, Tay Sachs, sickle cell disease
• Symptomatic/diagnostic testing
• Presymptomatic/predictive testing
– e.g. Huntington’s disease, monogenic subtypes of common
disease (BRCA1/2, Lynch syndrome, Long QT syndrome, MODY)
• Susceptibility testing (?): predisposing to common
complex disease => risk refinement
– e.g. type 2 diabetes, hart disease, arthritis, Alzheimer
Expanding scope of testing
– From reproductive genetic testing to predictive testing
– From reproductive decision making to personal risk
reduction
– From monogenic disorders to multifactorial disease
– From families to large (sections of) healthy populations
– From highly specialised centres to mainstream medicine
Introduction
• How does the general public perceive genetic
testing? What do they think about?
Rationale
Insight in attitudes and perceptions is important:
• Developing public policy
• Establishing genetic services based on public
acceptance, according to needs
• Help guide communication efforts by exposing
misunderstandings, gaps in knowledge and
concerns
Eurobarometer
Gaskell, Nature Biotech 2000
Eurobarometer
Gaskell, Nature Biotech 2000
Overall acceptance
• Technologies that aim to change ‘natural’
processes are less accepted
– GM foods, (animal) cloning, genetic therapy
• Positive attitudes to genetic testing: potential
health benefit or personal utility
– Including for diseases with limited evidence for
clinical utility
Public expectations genetics increasing
2002
2010
N=811
Insurer problems. Educational level (p = 0.025)
%
N=964
%
Knowledge about the genetic background of disease
will help people to live longer
(Completely) disagree
Not agree / not disagree
(Completely) agree
20
37
43
12
24
64
I am curious about my genetic make-up
(Completely) disagree
Not agree / not disagree
(Completely) agree
36
30
34
31
26
44
Henneman et al. Comm Genet 2004; Genetic Testing 2006; Eur J Hum Genet 2013
Factors influencing attitudes genetic testing
Attitudes (& interest) vary by:
• Individual characteristics: familiarity with
disease, age, gender and educational level
more information => more knowledge => more
favourable attitudes (deficit model)
= >more concern and ambivalence
(negative reactions not simply reflect lack of understanding)
• Country (political, social, economic context),
trust, media coverage
Overview
• General attitudes towards genetic testing
• Perceived consequences of genetic testing
– general public
– families at risk
• How to proceed?
Perceived consequences of testing
In general, concern about genetic information:
• Privacy & discrimination (insurance, employers)
• Confidentiality (access to data, storage)
• Despite protective regulations against genetic
discrimination (e.g. US GINA, Council of Europe, The Dutch Medical
Examination Act)
Public attitudes toward having genetic
information made available to others (n=811)
Henneman, Comm Genet 2004
Genetics and insurance: previous thoughts?
Attitudes of 560 women (Canada)
Etchegary, Pub Health Genomics 2010
Genetics testing and fear for insurance
Primary care-based survey of 86,859 adults (USA)
Hall, Genet Med 2005
Possible effects of public concern
• Public (disproportional) fear that insurance may
not be available, may lead to:
– Decline genetic tests
– Refusal to participate in scientific research
– Discouragement to disclose test results to
health care providers/relatives
– More interest in DTC testing
e.g. Allain, Fam Can 2012; Apse, Genet Med 2004;
Lapham, Science 1996; Geelen, EJHG 2012
Why fear?
• Genetic determinism
Belief that it is our genes, and only our genes that
‘make us who we are’
• Genetics exceptionalism
Belief that genetic information is special, powerful
(potentially dangerous), and therefore (must be)
treated differently
=> Predictivity in medicine is not only genetics
Origin of public fear?
• Discrimination of (healthy) sickle cell carriers
(USA 1970s)
• Previous ‘experiences’ with Huntington disease
and insurance (as template for other diseases)
Bombard, BMJ 2009; Lapham, Science 1996
In families at risk
• Fear of discrimination may be less obvious
• Concerns about employment and insurance of minor
importance compared with the main reasons for
testing (e.g. Huntington) (Tibben et al., BMJ 2009)
Testing for
hereditary breast
cancer (families)
Meiser, JMG 2000
However,
• Studies show:
for 20-25% fear for insurance discrimination most
important reason to decline predictive testing
(e.g. BRCA1/2)
Allain, Fam Cancer 2012; Peterson, Cancer Epid 2002
In families at risk: family issues
• Pre-existing experiences in families
– shared experiences of discrimination affecting
decisions (e.g. regret & postphone testing)
– rather than ‘misunderstanding’ of regulations
Actual genetic discrimination?
• Little evidence, anecdotal
– Usually based on presence of disease (vs.
predictive)
• Larger studies mainly from patient support
groups, outside Europe
– 10-29% reported ‘incidents’ (most problems life
insurance; neurological disorders)
=> (mostly) subjective experiences
Barlow-Stewart, Genet Med 2009; Otlowski, EJHG 2003; Bombard, BMJ 2009;
Taylor, Clin Genet 2008; Low, BMJ 1998; Lapham, Science 1996
Role of health care professionals
• Patients claim: only half health care providers
discussed insurance
• Learning about legislation (e.g. GINA) contributes
to reduction in concern
Allain et al., Fam Cancer 2012
Finally, public concern changing(?)
Expected consequences of genetic developments…
2002
2010
N=811
%
N=964
%
There will be a dichotomy in society: ‘good’ and ‘bad’
Insurer problems. Educational level (p = 0.025)
genetic predispositions
(Very) unlikely
Not unlikely / not likely
(Very) likely
44
36
20
34
28
38
29
29
42
33
31
36
Insurance companies will ask for a genetic test (height
of premium)
(Very) unlikely
Not unlikely / not likely
(Very) likely
Henneman et al. Comm Genet 2004; Genetic Testing 2006; Eur J Hum Genet 2013
Overview
• General attitudes towards genetic testing
• Perceived consequences of genetic testing
– general public
– families at risk
• How to proceed?
How to proceed?
• More research urgently needed:
– public/family attitudes
– understanding family dynamics (Tibben; Van
Hoyweghen)
– disentangle perceptions from actual discrimination
(systematic documentation, verification)
• How to effectively address public/patient concern?
– community & clinical education (e.g. patient
organisations, media)
– increasing health care professional awareness