Review
Interventions to improve risk communication in clinical genetics: Systematic review

https://doi.org/10.1016/j.pec.2007.11.026Get rights and content

Abstract

Objective

Effective risk communication may enable clients to participate effectively in decision-making about their health and health care. A systematic review of existing literature on risk communication in genetics, and its effects on key outcomes for clients, was undertaken.

Method

Systematic searching of six electronic databases and data extraction from included studies; narrative synthesis of results.

Results

Twenty-eight studies were included, principally from cancer genetics. Sixteen communication interventions have been evaluated, generally showing improvements in cognitive outcomes for users, such as knowledge, understanding and risk perception, and without adverse effects on anxiety, cancer-related worry and depression. However, often it was the supportive or emotional elements of counselling that provided benefits to users, rather than the informational or educational elements. Similar results were found in 12 further studies of decision aids which also appear to achieve shorter consultations that can focus more on the supportive elements of counselling.

Conclusion

For both communication models and decision aids, the supportive or emotional elements of counselling provided more benefits to users than the informational or educational elements.

Practice implications

Debate is required on how to strike a balance between the medical model, its agenda and perceived requirements to disclose or discuss a range of issues and the sometimes competing goals of addressing users’ concerns, needs for support, issues of loss and relationship problems.

Introduction

Risk communication concerns the sharing and discussion of information about the harms and benefits of different options in health and health care. Ahl et al. defined it as: “the open two-way exchange of information and opinion about risk, leading to better understanding and better (clinical) decisions” [1]. It has become increasingly important in health care discourse as the emphasis has shifted away from the paternalistic paradigm towards one of greater patient participation and responsibility for health and health care decisions. In practice this has been operationalised in the ‘shared decision making’ or the ‘informed choice’ models of decision-making [2], [3]. Risk communication is a prominent part of discussions between professionals and users in clinical genetics and it is important to identify the most effective strategies for communication about the risks involved.

Elements where notions of risk are particularly prominent in clinical genetics range from personal health risk (including predictive testing) and health-related behaviour and risk management to diagnostic and explanatory work (e.g. dysmorphology) and reproductive issues and decisions. Further specific issues arise in clinical genetics including inter alia risks that apply across families involving more than a single individual and couple, strained relationships with family arising from (non-) disclosure issues, survivor guilt, fears of discrimination in employment or insurance, and dilemmas in reproductive choice and issues that may arise due to the urgency of the information, for example during critical periods in pregnancy. Genetic risk information may also have the potential to weaken an individual's motivation for health behaviour, perhaps because of a feeling of inevitability associated with genetic risk factors, or perceived loss of control to change outcomes [4], [5].

The process of risk communication is encompassed within the activity of genetic counselling [6]. Genetic counselling interventions have been reviewed by several authors [7], [8], [9], [10], but these reviews focus on familial cancer or other specific clinical areas, not the range that is currently encountered and also researched in clinical genetics. Within the narrow spheres of those pieces of research, the number of studies providing data to the reviews is small (e.g. mostly 2 or 3 per outcome [7]). This may be at least part of the reason that the reviews found differing conclusions—one finding reduction in general anxiety and improved accuracy of perceived risks [9] and another finding no effect on perceived risk or anxiety [7]. Importantly, these other reviews have focused on areas where there has usually been a research focus, some of them single gene disorder areas. These have been the mainstay of clinical genetics workload to date, but the clinical genetics workload is changing now to include more conditions characterised by multiple gene inheritance and perhaps more gene–environment interaction where genetic risk may be only one of a range of risk factors (e.g. ischaemic heart disease) [11]. There are still a number of uncertainties in the literature, including the impacts of risk perception and the effects of risk communication interventions within the broader area of genetic counselling.

Given the importance of risk and risk communication in clinical genetics it is important to identify the most effective strategies for risk communication, both at an individual level and for communication with families. This is important in the context of the widening brief of clinical genetics, the likely breadth of clinicians involved in clinical genetics work (i.e. encompassing particularly general practitioners in the future) and the increasing availability of risk assessment methods. In the future both primary and secondary care clinicians will increasingly be challenged to identify patients whose symptoms, physical findings, or family history raise issues of genetics (or genetic risk assessment). They will need to discuss the pros and cons of testing, and to determine how to use genetic information most effectively to improve disease prevention. Also, as patients become more informed about potential tests and treatments and more empowered to seek them out, clinicians will need to respond effectively to this demand.

We undertook a systematic review of interventions to improve risk communication in the clinical genetics field. We sought to describe the types of interventions that have been developed to enhance risk communication in the clinical genetics context and their effectiveness on key outcomes: knowledge; decision-making process; management of anxiety; change in intentions to take or decline tests; actual test decisions. Within this we also examined evidence of whether interventions based on individualised risk information achieve or enhance risk-reducing behaviour change.

Section snippets

Search strategy

Searching of six electronic databases (from 1985 to January 2006) was undertaken. These were: Medline, CINAHL, Cochrane Library, EMBASE, PsycInfo, National Research Register. The search strategy was based around those used in our other systematic reviews in related fields [12], [13] with layers of headings around:

  • risk and communication;

  • genetics, predisposition, screening, or counselling;

  • service delivery, health services, organisation;

  • trial design filters.

Follow-up searches included both

Results

Twenty-eight studies were included in this Review. It comprises Section ‘D’ of the overall review, and numbers of studies searched, included and processed for data extraction in the whole review are shown in Fig. 1. The other sections are reported elsewhere [14]: section A, studies on construction of risk; section B, risk perception; C, family communication; E, training professionals.

We summarise the 28 studies in Table 1 (see end of paper). We also present a narrative synthesis of their

Principal findings

This review identified 28 studies describing or evaluating risk communication elements rather than genetic counselling more widely. Most of the research in this area has addressed risk communication about cancer (mainly breast and/or ovarian cancer) susceptibility. Risk communication is an important issue, and one for which there is user demand [57] and much initiative from service providers and researchers to enhance existing communication approaches. Risk communication interventions achieve

References (94)

  • J.S. Roberts et al.

    Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial

    Genet Med

    (2004)
  • R.T. Anderson et al.

    Patient acceptability of genotypic testing for hemochromatosis in primary care

    Genet Med

    (2005)
  • D. Feldman-Stewart et al.

    Challenges for designing and implementing decision aids

    Patient Educ Counsel

    (2004)
  • A.S. Ahl et al.

    Standardisation of nomenclature for animal health risk analysis

    Rev Sci Tech Office, UK Gov

    (1993)
  • G. Elwyn et al.

    Shared decision-making and the concept of equipoise: defining the ’competences’ of involving patients in health care choices

    Br J Gen Pract

    (2000)
  • A. Edwards et al.

    Inside the black box of shared decision making—distinguishing between the process of involvement and who makes the decision

    Health Expect

    (2006)
  • I. Azjen et al.

    Understanding attitudes and predicting behaviour

    (1980)
  • I. Azjen

    The theory of planned behaviour

    Organ Behav Hum Dec Process

    (1991)
  • R. Resta et al.

    A new definition of genetic counseling: National Society of Genetic Counselors’ task force report

    J Genet Counsel

    (2006)
  • D. Braithwaite et al.

    Psychological impact of genetic counselling for familial cancer: a systematic review and meta-analysis

    J Natl Cancer Inst

    (2004)
  • F. Walter et al.

    Lay understanding of familial risk of common chronic diseases: a systematic review and synthesis of qualitative research

    Ann Fam Med

    (2004)
  • D. Meiser et al.

    What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review

    Soc Sci Med

    (2002)
  • P. Butow et al.

    Psychological outcomes and risk perception after genetic testing and counselling in breast cancer: a systematic review

    Med J Aust

    (2003)
  • W. Hall et al.

    The prediction of disease risk in genomic medicine: scientific prospects and implications for public policy and ethics

    Eur Mol Biol Organ Rep

    (2004)
  • R. Iredale et al.

    Genetic service delivery for individuals at risk of familial breast cancer [protocol]

    Cochr Database Syst Rev

    (2002)
  • Edwards A, Sivell S, Dundon J, Elwyn G, Evans R, Gaff C, Iredale R, Shaw C, Thornton H, Gray J, Clarke A, Atkinson P....
  • B.K. Rimer et al.

    Is there a use for tailored print communications in cancer risk communication?

    J Natl Cancer Inst

    (1999)
  • S. Lloyd et al.

    Familial breast cancer: a controlled study of risk perception, psychological morbidity and health beliefs in women attending for genetic counselling

    Br J Cancer

    (1996)
  • C. Lerman et al.

    Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing

    J Natl Cancer Inst

    (1997)
  • K. Brain et al.

    A randomized trial of specialist genetic assessment: psychological impact on women at different levels of familial breast cancer risk

    Br J Cancer

    (2002)
  • T.M. Marteau et al.

    The new genetics: psychological responses to genetic testing

    Br Med J

    (1998)
  • A. O’Connor et al.

    Decision aids for people facing health treatment or screening decisions [Cochrane Review]

    Update Softw: Cochrane Library

    (2003)
  • R.E. Boyatzis

    The competent manager. A model for effective performance

    (1982)
  • P. Hopwood et al.

    Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer [12]

    J Med Gen

    (2001)
  • W. Burke et al.

    Genetic counseling for women with an intermediate family history of breast cancer

    Am J Med Genet

    (2000)
  • A. McTiernan et al.

    Comparisons of two breast cancer risk estimates in women with a family history of breast cancer

    Cancer Epidemiol, Biomar Prev

    (2001)
  • M.D. Schwartz et al.

    The impact of a brief problem-solving training intervention for relatives of recently diagnosed breast cancer patients

    Ann Behav Med

    (1998)
  • S.M. Miller et al.

    Enhanced counseling for women undergoing BRCA1/2 testing: impact on subsequent decision making about risk reduction behaviors

    Health Educ Behav

    (2005)
  • J.S. Roberts et al.

    Genetic risk assessment for adult children of people with Alzheimer's disease: the Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study

    J Geriatr Psychiatry Neurol

    (2005)
  • T.M. Marteau et al.

    Numbers or words? A randomized controlled trial of presenting screen negative results to pregnant women

    Prenatal Diag

    (2000)
  • I.M. Lipkus et al.

    Communicating breast cancer risks to women using different formats

    Cancer Epidemiol, Biomar Prev

    (2001)
  • A. Cull et al.

    The use of videotaped information in cancer genetic counselling: a randomized evaluation study

    Br J Cancer

    (1998)
  • E. Lobb et al.

    Development of a communication aid to facilitate risk communication in consultations with unaffected women from high risk breast cancer families: a pilot study

    J Genet Counsel

    (2006)
  • M.S. van Roosmalen et al.

    Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation

    Br J Cancer

    (2004)
  • E. Warner et al.

    Pilot study of an information aid for women with a family history of breast cancer

    Health Expect

    (1999)
  • E. Warner et al.

    Educating women about breast cancer. An intervention for women with a family history of breast cancer

    Canad Fam Physician

    (2003)
  • J. Hewison et al.

    Use of videotapes for viewing at home to inform choice in Down syndrome screening: a randomised controlled trial

    Prenatal Diag

    (2001)
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