Public Attitudes Toward Genetic Risk Testing and Its Role in Healthcare

Holly Etchegary

Personalized Medicine. 2014;11(5):509-522.

Abstract and Introduction

Abstract

Developments in genomics continue to increase the number of disorders for which genetic testing is available, whether in the primary healthcare system, through direct-to-consumer testing, or as part of expanded newborn screening panels. This paper reviews a robust literature on public attitudes toward genetics and genetic testing. In general, attitudes are positive about genetic research and new genomic technologies, with majorities indicating an interest in genetic testing. However, complex beliefs comprise the public's thinking about genetics. Attitudes are driven by beliefs about the type of genetic research, the personal and clinical utility of tests, and the area of genetics in which testing is applied. Limitations of current research are noted and suggestions made for future research.

Introduction

The past decade was marked by expanding knowledge about the role of genes in health and illness, and media announcements describing 'the gene for' an increasing number of disorders and traits were common. New developments in genomics continue to increase the number of disorders for which genetic testing is available, whether through the primary healthcare system, direct-to-consumer (DTC) testing on the internet,^[1,2] or as part of expanded newborn screening panels.^[3] Not surprisingly, there is growing interest on the part of policy makers and scholars alike in public attitudes toward these continued developments.

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Table 1. Review papers included in the current synthesis.
Study (year)	Jurisdiction	Type of review	Conclusions	Ref.
Cameron and Muller (2009)	Aukland, New Zealand	Literature review	Public attitudes about genetic testing are positive, but motivations for testing are complex. The behavioral and psychological impacts of testing are quite variable	[42]
Condit (2010)	GA, USA	Literature review and synthesis	Public attitudes about genetics are largely positive, but complex Considerations about the uses of genetic testing, test utility and the area of genetics in which testing is applied (e.g., health applications vs cosmetic) heavily influence public attitudes Current research largely ignores the literature on attitude and belief formation	[5]
Marteau et al. (2010)	London, UK	Cochrane systematic intervention review	Receiving genetic test results does not seem to motivate people to change their behavior (e.g., lifestyle behaviors such as smoking cessation and increased physical activity, among others)	[18]
McBride, Wade, Kaphingst (2010)	MD, USA	Literature review	The general public may lack the genetic literacy to fully understand DTC genetic testing websites Computer savvy members of the public express an interest in DTC testing, but as a whole, the general public has shown little interest and uptake	[2]
McBride, Koehly et al. (2010)	MD, USA	Literature review	The provision of genetic information about rare variants is associated with healthy screening behaviors and compliance There is no evidence of any sustained effect on behavioral outcomes when genetic risk is based on numerous genetic variants simultaneously; research is limited in this area	[17]
Schneider and Schmidtke (2014)	Hanover, Germany	Systematic literature review	The overall compliance of patients after receiving a genetic test result for a given condition is high However, lifestyle behavior change is impacted by complex factors, genetic risk being only one	[65]

DTC: Direct to consumer.

Table 2. Summary characteristics of selected studies on public attitudes toward genetics.
Study (year)	Jurisdiction	Research method(s)	Research aims	Conclusions	Ref.
Anderson et al. (2014)	UT, USA	Cross sectional survey	To explore the public's interest in genomic testing for modest changes in colorectal cancer risk	Individuals with moderately increased risk for colon cancer were highly interested in genomic testing for modest increases in disease risk (~75%), specifically unmarried persons, younger age groups and those with greater cancer fear	[73]
Diaz et al. (2014)	SC, USA	Cross sectional survey	To assess racial differences in attitudes toward personalized medicine	African–American participants were more concerned about the use of genes without consent, discrimination based on genes, and lack of access to personalized medicine than were Caucasian, non-Hispanic participants	[58]
Etchegary et al. (2010)	Newfoundland, Canada	Pen and paper survey	To measure public attitudes, including expecting parents, about newborn genetic testing	Public attitudes were very positive about newborn testing for both treatable and untreatable disorders Parents strongly endorsed the need for informed consent for newborn testing	[6]
Etchegary et al. (2013)	Newfoundland, Canada	Community consultations/town hall meetings	To explore public attitudes about a variety of issues concerning genetic testing and research	Public interest in testing and genetic research was high. Concerns included the possibility of eugenics, insurance discrimination, and worry about own and children's genetic risks.	[47]
Gollust et al. (2012)	MN, USA	Internet-based survey of participants in the Coriell Personalized Medicine Collaborative, a US based (NJ, USA) research study of the utility of personalized medicine	To assess the motivations and intentions of early adopters of personalized medicine	Motivations for testing were driven by curiosity and a desire to find out personal disease risks Nearly all intended to share personal genomic test results with their physicians	[37]
Haga et al. (2012)	USA (various locations)	Random-digit dialed telephone survey	To assess public attitudes and interest in pharmacogenetic testing	Most respondents expressed interest in testing to predict mild or serious side effects, guide dosing, and assist with drug selection Younger individuals (aged 18–34 years) were more likely to be interested in testing to predict serious side effects (vs aged 55+ years), as well as Caucasians, those with a college degree, and who had previously experienced side effects from medications Participants expressed concerns about the sharing of their health data without their permission and would not have a test in this circumstance	[59]
Hasegawa et al. (2011)	USA (various locations)	Focus groups	To assess parental knowledge and attitudes toward expanded newborn screening panels and their views on informed consent	All women supported newborn screening for conditions that occur in infancy without a proven treatment; however, they disagreed about newborn screening for disorders that manifest in late childhood or adulthood All endorsed the need for informed consent	[34]
Henneman et al. (2013)	The Netherlands	Follow-up cross-sectional survey of the Dutch Health Care Consumer Panel	To compare public experiences, beliefs and expectations concerning genetic testing over the years (2002 vs 2010)	Public expectations of benefits and potential use of genetic testing were raised, resulting in more positive opinions Worries on inequity remained, while worries about premium differentiation by insurance companies decreased	[4]
Kaufman et al. (2008)	USA (various locations)	National online survey	To measure support for and willingness to take part in a large genetic cohort study	Willingness to take part depended on study burden and whether individual results would be returned to participants	[54]
Lemke et al. (2010)	Chicago, IL, USA	Focus groups	To measure public and biobank participant attitudes toward research participation and sharing of genetic research data	Concerns were expressed about sharing genetic data and the need for transparency on the part of researchers The need for more education and public information about genetics research was also observed	[55]
Lemke et al. (2010)	USA (various locations)	Case study of the biobanks that form the eMERGE Network, a consortium of US research institutions devising strategies for combining genomic and electronic medical record data for genetic research	To describe community engagement efforts of six US biobanks	A variety of community engagement approaches will be necessary depending on the stakeholders and communities involved Community input into biobank processes and governance is essential to ensure public trust and participation	[50]
Lipstein et al. (2010)	Massachusetts, OH, USA	Focus groups with parents of primary care clinics and interviews with parents from a genetics clinic	To describe how parents think about disease and test characteristics in their decisions about newborn screening	Participants supported newborn screening for treatable disorders but suggested optional screening for other disorders Older age at onset, availability of treatment and the accuracy of the test appeared to influence attitudes	[35]
Nicols et al. (2013)	Ontario and Newfoundland, Canada	Community workshops with a deliberation exercise	To explore public attitudes toward genomic profiling in two areas: adult risk assessment for colorectal cancer and newborn screening for Type 1 diabetes	Attitudes were heavily informed by assessments of the likely validity of genetic test results and its personal and health care utility Concerns related to costs, education needs regarding the probabilistic nature of risk, the potential for worry, and control of access to personal genomic information	[53]
Pullman et al. (2012)	Newfoundland, Canada	Community group discussions Conjoint rating task after discussion	To assess the public's perception of biobank research and the relative importance they place on concerns for privacy and confidentiality, when compared with other key variables when considering participation in biobank research	The public ranked privacy and confidentiality of their health information as the least important variable they would consider in determining whether they would take part in genetic research Rather, the potential beneficiary of proposed research ranked the highest under conditions of both blanket and specific consent	[52]
Wilde et al. (2010)	South Wales, Australia	Focus groups	To measure public interest in genetic testing for psychiatric illnesses and identify public concerns about testing in this context	The majority of participants indicated interest in having a genetic test for susceptibility to major depression Concerns were raised about genetic discrimination and privacy issues	[29]

eMERGE Network: Electronic Medical Records and Genomics Network.

Sidebar

Executive Summary

Why study public attitudes?

Pragmatically, it is useful to anticipate demand for genomic tests and implement them in a way that accords with the public's expectations and needs.
Public input is critical to inform assessment of the ethical, legal and social issues raised by emerging genomic technologies.

Methodological approach

A narrative synthesis was compiled following a search of four key databases and subjective assessment of reviews and original research studies to include.

Public knowledge about genetics

The general public has a fairly high level of awareness about genetics and understands that hereditary material is passed from parents to children.
The public's understanding of probabilities to inform risk categories and the concept of gene–environment interaction is low.
The relationship between knowledge and attitude about genetics is not linear; sometimes, the most informed public is the most critical.

Public attitudes toward genetics

While interest in genetic tests is high and attitudes are largely positive, complex beliefs underlie the public's opinions.

Complex considerations underlie attitudes toward genetic testing

The public prefers tests of useful clinical utility.
There are some unacceptable uses of testing (e.g., to select newborn traits).
There are both individual and societal concerns about testing.
There are racial differences in attitudes toward genetics.

Does attitude toward genetic testing positively impact health behaviors?

Testing for single-gene variants
- Providing DNA risk information about single-gene variants conferring a high risk of disease (such as in familial cancer syndromes) has positive effects on risk management behaviors (e.g., screening).
Testing for numerous variants simultaneously
- Little research has examined the link between attitudes and behaviors in the common, complex diseases where gene variants account for only a modest increase in disease risk.

Does interest translate into more healthy behaviors?

Extant research reveals little to no effect of genomic information on health behavior in this context.

Directions for future research

Public opinion research that is guided by attitude theories of formation and change.
Research is needed to evaluate whether and how new understandings of genomic risk can favorably influence health outcomes.
Health communication research that explores how varying levels of health literacy affect understanding and uptake of genomic technologies.