Familial Cancer (2009) 8:403–412 DOI 10.1007/s10689-009-9256-6
Cancer genetic predisposition: information needs of patients irrespective of risk level Alison Metcalfe Æ Julie Werrett Æ Lucy Burgess Æ Cyril Chapman Æ Collette Clifford
Published online: 11 June 2009 Ó Springer Science+Business Media B.V. 2009
Abstract Increased insight into the information needs of people about cancer genetic predisposition could allow materials to be developed to improve decision-making for those at high risk, whilst those at lower risk could have their anxiety reduced without the need for referral to genetics services. This study aimed to identify information needs of patients concerned about a genetic predisposition to cancer, and explore how this varied according to risk perception, cancer worry, personal motivation and demographics. Stage 1 used semi-structured telephone interviews pre and post participants’ genetic risk assessment. The findings informed stage two, a structured questionnaire survey of 1,112 patients, pre and post their genetic risk assessment. Participants were stratified by risk level and included those concerned about an inherited predisposition to breast, ovarian or colorectal cancer. About 512 (46%) responded with equal proportions of responders and non-
A. Metcalfe (&) J. Werrett C. Clifford School of Health & Population Science, College of Medicine & Dentistry, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK e-mail:
[email protected] J. Werrett e-mail:
[email protected] C. Clifford e-mail:
[email protected] L. Burgess C. Chapman West Midlands Regional Genetics Unit, Birmingham Women Hospital NHS Trust, Metchley Park Road, Edgbaston, Birmingham B15 2PD, UK L. Burgess e-mail:
[email protected] C. Chapman e-mail:
[email protected]
responders across the risk categories. Findings indicated that irrespective of a person’s actual or perceived level of risk, cancer worry, demographic background or personal motivation; priorities in the type of information required were similar. Greatest emphasis focused on information provision about how risk was assessed. Least important was acquiring an understanding about genes and inheritance patterns. Most participants reported difficulties accessing or finding information. Peoples’ information needs are consistent irrespective of their risk level and therefore generalised information packages could be developed for anyone requesting cancer genetic risk assessment. Better information is likely to assist patients’ understanding and ultimately increase concordance with recommended screening and preventative measures. Keywords Familial cancer Genetic counselling Genetic predisposition Information Patient education
Introduction Genetic predisposition to cancer may be due to single or multiple genes and is usually diagnosed initially using the individual’s family history. An estimated 5–10% of the general population is likely to have a genetic predisposition to some form of cancer [1, 2]). With 1 person in 3 affected by cancer over the course of their lifetime, there are a large numbers of individuals who are worried about an inherited genetic predisposition to cancer, leading to a substantial number of referrals to specialist genetics units for cancer genetic risk assessment and counselling. However, the overwhelming majority of people referred for a genetic cancer risk assessment in the UK are at population risk (same risk as a member of the general population [3] or a
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moderately increased risk where family history is not diagnostic of hereditary cancer but there may be an increased cancer risk warranting additional surveillance [3]. Therefore, these referrals make a lot of use of a limited resource. The aim of providing a cancer genetic risk assessment is to allay unfounded fears about a genetic predisposition in those individuals who are found to be at population risk and reinforce the importance of a healthy lifestyle for cancer prevention generally. For individuals assessed to have a moderate or highly increased risk of a genetic cancer predisposition, they are advised on screening, preventative measures and possible prophylactic treatments to halt or delay disease onset. Those who are found to be high risk, where family history suggests hereditary cancer may also be offered genetic testing (Hampel et al. [3]). Advice for those at population and moderate risk is provided by letter. Individuals assessed as high risk are offered a consultation appointment to provide genetic counselling and give them the opportunity to receive genetic testing to identify specific genes that predispose them to cancer. Despite developments in cancer genetic risk assessment there is little evidence of an increase in the evidence-based information provided for people concerned about the possibility of genetic predisposition to cancer in their family. Patients attending genetic counselling have previously reported that they needed to feel more adequately prepared [4, 5]. Many people attend genetic counselling simply because they want more information [5–7]. However, the nature and source of information can play an important role in people’s understanding, coping and living with the risk and it is likely to affect their subsequent choices and decisions to take up genetic risk assessment and to follow recommended screening regimes [8, 9]. Studies in population and high risk groups show there is often poor recall of risk information [10–12] and choices about health behaviours and screening often does not correlate with the level of risk [8]. That is those at high risk do not follow screening recommendations and those at population risk still remain unduly worried about their family history. Little is currently known about the influences on people’s opinions, attitudes, motivation and decisions to seek advice on the possibility that they carry a gene or genes that predispose them to a higher risk of developing cancer. The information needs of individuals who are at a moderate or population level of risk have not been fully examined. Therefore, greater insight into patients’ information needs will allow the development of materials and mechanisms to prepare and support patients at different risk levels, to make informed decisions prior to referral for genetic risk assessment and assist their coping with subsequent outcomes and screening recommendations.
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The aim of this study was to identify the information needs of patients about genetic predisposition cancer based on cancer type, risk level and the factors motivating them to seek cancer genetic risk assessment.
Methods A mix of qualitative and quantitative research methods was used in a two stage approach to identify patients’ information needs about cancer genetic risk assessment. The first stage used interviews with patient participants and focus groups with genetic health professionals. The findings from Stage 1 were used to inform the second stage; a questionnaire survey of patients pre and post their cancer genetic risk assessment. Research ethics committee approval was obtained for the study which was carried out in accordance with the UK’s National Health Service (NHS) research governance guidelines. Stage 1 Stage 1 comprised of telephone interviews with patients concerned about the genetic predisposition to cancer substratified by the three levels of risk; population, moderate and high level of risk. The telephone interviews were conducted at two points with patients 2–4 weeks pre and post their genetic risk assessment at a UK regional cancer genetic counselling service. The purpose was to determine their information needs upon referral to the service. Data was gathered using semi-structured interview schedules to encourage open responses by the participants. In addition three focus groups were undertaken with multidisciplinary genetic healthcare specialists including medical geneticists, genetic counsellors and genetic nurse counsellors with numbers at each ranging from 2 to 8 individuals. These were conducted from November 2003 to February 2004. The focus groups were facilitated by AM using a semi-structured interview schedule which invited participants to share their experiences and views about patients information needs. Data from the telephone interviews and focus groups were analysed by content analysis [13] by two researchers (AM and JW) working independently before agreeing the final themes to emerge. Findings from the telephone interviews and the focus groups were triangulated to inform the development of a questionnaire used in Stage 2. Stage 2: questionnaire survey The findings from Stage 1 gave an insight into the range and breadth of patients information needs. However, there was a need to determine if these findings applied to the
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general population seeking access to cancer genetic services. Therefore, data from Stage 1 was used to inform the design of pre and post genetic risk assessment questionnaires on the same timescale as the interviews schedule, 2–4 weeks pre and post the risk assessment. The questionnaires were similar in content but statements were modified to reflect expectation and experiences to ascertain whether participants’ views changed following their experience of genetic risk assessment. Administration of the questionnaire Data collection tool The questionnaires collected data on level of personal concern about developing cancer, cancer risk, the likelihood of people having a gene that predisposes them to cancer and whether they would want to know if they carried such a gene Wherever possible, the questionnaire used terminology and words frequently used by interviewees from Stage 1. The questionnaire contained predominantly Likert response scales (using ratings from 1, no importance to 5 very important) for 25 statements about information need, and importance-performance measures [14] along with other closed questions for yes or no type responses. Scales to assess cancer worry [15] and risk perceptions were also included. Opportunities for alternative responses were given with open text boxes if none of the provided options reflected the participant’s answer. The final section contained a small quiz testing participants’ knowledge about genetic cancer predisposition. Demographic data were collected in the first questionnaire. Prior to use, the questionnaires were validated in a pilot study with 60 participants, pre and post their risk assessment, which resulted in recommendations for minor changes. Participant sample The genetics unit supporting the study provided regional cancer genetic risk assessment services for a general population of 5.5 million people reflecting a microcosmic representation of the UK population, including ethnically and culturally diverse groups, and both urban and rural conurbations. The participants for the study were patients undergoing cancer genetic risk assessment from August 2005–December 2006 but some were not seen in clinic and therefore followed up with their second questionnaire until December 2007. Participants had been referred to the genetics unit because of a family history of breast, ovarian or bowel cancer from hospital clinics (secondary care) and general practices (primary care). The study participants were independently assessed by medical geneticists, to be population, moderate or at high risk from a genetic predisposition to cancer. Participants were contacted sequentially until a sufficient number
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was recruited for each of the three risk categories; population, moderate and high risk levels. Questionnaire administration Patients referred to the clinic because of a family history of cancer were sent an invitation letter, accompanied by an information sheet describing the study and the questionnaire. A prepaid reply envelope addressed for return to the University research team so that all responses were treated confidentially was included for the return of the questionnaire. Genetics unit staff did not have access to individuals’ responses. The questionnaire was sent from the genetics unit to potential participants 2–4 weeks prior to them being sent a letter containing their genetic risk assessment or, in some cases, requesting them to attend a genetic counselling clinic appointment. A follow up questionnaire was sent to respondents to the first questionnaire, 2–4 weeks after they had received their genetic risk assessment or counselling appointment. Sample size Following the pilot study with 60 participants, the most frequently highest rated statement was the importance of ‘understanding how the risk level relates to me’ rated very important by 46 (77%) of participants. To estimate the number of participants who would rate this statement as very important to within 10% of the true value with 90% confidence at 5% level, it was identified that a minimum of 355 participants were required to participate in the main study. However, to include further stratification based on the three actual risk levels and detect a difference of 10% between participants, it was calculated that a sample of 157 was required in each risk category; population, moderate and high [16]. Statistical analysis The data was coded and analysed using SPSS v14. Descriptive statistics were used to explore the data before performing parametric and non-parametric statistics as stated in the results according to the type of data. For the descriptive analysis, 25 statements about information needs were split into five groups based on the statement focus, and a mean of mean scores calculated for each group along with the confidence interval. Forward stepwise logistic regression analyses were performed (using StatsDirect version 7) to analyse associations between levels of reported cancer worry, and personal risk ratings for (1) cancer and (2) genetic predisposition and demographics variable and the level of importance rating for the series of 25 statements about information need on genetic risk assessment, as individual statements and within their relevant grouping. Binary coding was used for all variables and where necessary results were collapsed into binary codes e.g. no importance and little importance was treat as a single response,
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minimal importance. And important and very important were combined and coded as important. This logistical regression was used to reduce the risk of bias from multiple statistical tests (Altman [17]). Appropriate non-parametric statistics were used to explore in-depth any significant associations to emerge from the logistic regression analyses.
Results Stage 1: findings Descriptions of the respondents for Stage 1 have been reported in detail elsewhere along with some of the findings [18]. Additional findings related to the key themes are summarised in Table 1. The findings from the interviews and focus groups showed there were a number of factors that motivated people to seek cancer genetic risk assessment and counselling. These included; other family members’ diagnosis with cancer, advice from a relative or medical consultant, previous personal diagnosis of cancer and a wish to receive increased screening because of a perceived increased risk. The importance of having information was often stressed by patient and health professional participants to enable patients to make an informed decision about genetic risk assessment. Both groups thought more information was required at or before the point of referral, so that patients could make choices about whether to pursue a risk assessment. Patients and health professionals also thought insight into the procedures and processes followed during the risk assessment would allow patients to focus on understanding their personal risk outcomes and subsequent decisions about genetic testing and future screening. Many patient participants did not understand the meaning of ‘counselling’ in the genetic context, often ascribing a psychotherapy role to it and some assumed the ‘counselling’ was a psychometric test that had to be passed by the individual before their genes could be tested. (Findings subsequently also found in Stage 2). All of the patient participants reported difficulties in finding information, the Internet was often used as a source
initially but failed to provide suitable levels of information. Some websites that did provide information about inherited genetic risks required users to go through information about cancer generally including diagnosis, treatments and outcomes, which many found disturbing and emotionally taxing especially if they had family members affected by the condition. Participants often found it difficult to make decisions on the reliability of the information they could find. The outcomes of Stage 1 informed the Stage 2 survey. Key areas considered were; motivational factors in seeking genetic risk assessment, the format and importance of information required prior to genetic risk assessment, the level of knowledge about inherited genetic cancer risk and how all these were affected by demographic variables, risk perception and cancer worry. Stage 2: results Response rate and demographic details of respondents The total number of individuals surveyed was 1,112. The response rate was 46% (N = 517) which gives the study 95% power at 0.05 level of significance. There was no statistically significant difference observed between responders and non-responders compared by risk level and cancer type (Table 2a, b—Risk category and cancer type assessed by consultant medical geneticist). Participants reflected a cross section of the general population based on educational background, employment status and age (mean 44 years; range 18–78 years; Table 3). Ethnicity and gender did not reflect the wider population because 99% of respondents described themselves as White British or White Irish, and only 12% of participants were men. Motivation for and factors affecting participants requesting cancer genetic risk assessment Participants describing different levels of worry were evenly spread across all ‘actual’ risk levels (Table 4). With regard to rating the risk of developing cancer, most estimated their risk as higher than the average person. Nearly
Table 1 Key themes to emerge from interviews and focus groups Key themes from interviews with patients
Key themes from focus groups with health professionals
Motivation to request cancer genetic risk assessment
Patients limited understanding of the genetic risk assessment and counselling process
Information seeking behaviour
Providing and delivering information
The importance of having information
Supporting informed decision-making
Decision-making about information sources
Motivation of patient to access cancer genetic risk assessment and counselling
Reaction to finding information
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Table 2 (a) Responder by risk level, (b) responder by cancer type Risk levela
Responders (N = 5 17)
Non-responders (N = 618)
N
(% of responders)
N
(% of non responders)
Population
138
(27)
192
(31)
Moderate
215
(42)
242
(39)
High (inc. Mod-high)
164
(32)
184
(30)
(a)
Ca type
Responders
Non-responders
N
(%)
N
(%)
(b) Cancer type summary (% of those responding/not responding for cancer type) Breast cancer
a
282
(48)
304
(52)
Ovary
67
(49)
70
(51)
Colon
165
(41)
237
(59)
Other
3
(30)
7
(70)
Participants are unaware of their actual risk level (when completing the pre genetic risk assessment questionnaire)
Table 3 Demographics of respondents responding to questionnaire Demographics of respondents
N
(%)
Gender Male
63
(12.2)
454
(87.8)
18–30
52
(10.0)
31–40
156
(30.1)
41–50
168
(32.4)
51–60
89
(17.2)
61–70
42
Female Age groups (years)
70? Highest educational attainment None
5
(8.1) (1)
63
(12.2)
O levels or equiv
164
(31.7)
A levels or equiv
121
(23.4)
University graduate
78
(15.1)
Professional qualification
82
(15.8)
Employment status Snr manager/exec./prof. Semi-professional Manual worker Not working or unemployed
66
(12.7)
196
(37.8)
93 127
(18) (24.5)
Note on missing data: between 1 and 2% did not answer one or more of the demographic questions. 7% did not provide employment details
half of all respondents thought they had a 50% risk of carrying a gene that predisposed them to cancer with only a small number of those at moderate or population risk rating their risk more accurately as unlikely. The vast majority would want to know if they carried a gene that predisposed
them to cancer leaving only a small minority (\10%) who were unsure or did not want to know. Post genetic risk assessment, the risk of developing cancer was more accurately assessed by participants and their level of cancer worry across all risk categories was reduced. However, N = 202(72%) of participants who were unlikely to have a genetic predisposition perceived themselves as likely to carry a gene that increased their susceptibility to cancer. Participants were asked to rate in terms of importance, a range of statements that Stage 1 interviewees had suggested were important, in relation to motivating them to request genetic risk assessment. The participants had to rate their three chosen statements that reflected their personal motivation in order of importance from ‘most important’, ‘very important’ and ‘quite important’. The mode score for three highest ranked statements are reported in Table 5. The motivations for most participants centred on wanting to find out if there was a risk, what actions could be taken and the implications for other family members. Following Kruskal–Wallis tests there was no statistical differences observed based on demographic differences, cancer type or risk level in what motivated individuals to request cancer genetic risk assessment, what they hoped to gain or why people wanted more information at the point of referral. The pre and post genetic risk assessment questionnaire asked participants to rate the importance of 25 items of information, on a 5 point scale from not at all important to very important, which interviewees from Stage 1 had suggested were important. Cronbach alpha scores showed that these 25 items could be reliably grouped into five categories of information needs; (1) understanding the
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Table 4 Personal concerns about developing cancer based on the actual risk level provided by the consultant medical geneticist Question
1. How worried are you about getting cancer?
2. How would you rate your risk of developing cancer?
3. In your opinion what is the likelihood of you having a gene that predisposes you to cancer? 4. Which reflects your current feelings about the possibility of knowing whether you carry a gene that increases your risk of developing cancer?
Response categories
Assessed risk of participant n (% within risk category)
Total N (% total participants)
High
Total
Moderate
Population
Not at all worried
3 (2%)
5 (2%)
8 (6%)
16 (3.2%)
A bit worried
57 (35%)
88 (42%)
47 (35%)
192 (38%)
Quite worried Very worried
45 (28%) 31 (20%)
64 (31%) 38 (18%)
44 (32%) 32 (24%)
153 (30%) 101 (20%)
Lower than the average person’s
0
0
0
0
Same as the average person’s
18 (11%)
35 (17%)
41 (30%)
94 (18%)
Higher than the average person’s
101 (62%)
143 (68%)
73 (53%)
317 (62%)
Much higher than the average person’s
19 (12%)
20 (10%)
19 (14%)
58 (11%)
Not likely
5 (3%)
11 (5%)
15 (11%)
31 (6%)
Quite likely
41 (26%)
57 (27%)
38 (28%)
136 (27%)
50/50 chance I have or do not have the gene
73 (46%)
100 (47%)
62 (46%)
235 (47%)
Very likely
40(25%)
44 (9%)
19 (14%)
103 (20%)
I don’t want to know
3 (2%)
1 (0.5%)
0
4 (1%)
I may want to know
14 (9%)
25 (12%)
9 (7%)
48 (9%)
I am unsure
10 (6%)
24 (11%)
17 (13%)
51 (10%)
I would quite like to know
25 (15%)
36 (17%)
23 (17%)
84 (17%)
I would definitely want to know
111 (68%)
125 (59%)
86 (68%)
322 (63%)
Total % of responses = 91% in questions 1 and 2 because n = 43 (9%) of participants had already developed cancer. Modes highlighted in bold Table 5 Motivations to request genetic risk assessment (three most highly rated reasons given for each statement) Statement
Highest mode scores
N(%) of participants
Participants asked to rate the 3 main things that had prompted them to undergo genetic risk assessment 1. Wanting to prepare in case there is a problem
Most important
129 (25%)
2. To determine if screening/extra screening is required
Very important
168 (32%)
3. Concerns about other family members
Most important
42 (36%)
Participants asked to rate the importance of what they were hoping to gain from genetic risk assessment 1. To find out if there is an increased risk of developing cancer
Most important
232 (45%)
2a. To find out if other family members are at risk
Very important
93 (18%)
2b. To ascertain whether screening/extra screening required
Very important
88 (17%)
3. ‘Peace of mind’
Quite important
129 (25%)
Participants were asked the rate the importance of why they wanted additional information at referral 1. To enable informed choices about treatment/screening 2. To inform other family members
Most important Very important
240 (46%) 181 (35%)
3. Planning my future and feel in control
Quite important
257 (50%)
process of genetic risk assessment (a = 0.82), (2) genetic testing (a = 0.84), (3) understanding genetic inheritance (a = 0.83), (4) understanding personal factors involved in risk (a = 0.87) and (5) lifestyle choices (in relation to cancer risk) (a = 0.84). Overall scale reliability a = 0.87, lower CI = a 0.85. All aspects of the information were rated as important and consistent measures were obtained in the pre and post risk assessment questionnaire. A mean of the mean scores and confidence intervals of the
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statements’ rating for each of the five groups was calculated (Fig. 1). The highest rated information needs were in relation to the category grouping items connected with understanding personal factors involved in genetic risk with participants indicating they wanted to know more about ‘what factors were taken into account in assessing risk’ and how risk related to them, and their family (Fig. 1). Items forming the category genetic testing were rated as the next most
5
Lifestyle choices
4.5 4
important)
Fig. 1 Mean scores and confidence intervals for rated importance of information focused on specific topics
409
Mean score (5 = very important - 1 not at all
Cancer genetic predisposition
3.5
Understanding personal factors involved in risk
3
Genetic testing Understand process of genetic risk Understand genetic assessment inheritance
2.5 Information required from genetic risk assessment categories
2 1.5 1
important including for example, ‘what happens if I have to have a gene test’ and ‘information to help me decide on genetic testing’. The third important category in relation to lifestyle choices were related to ‘understanding how lifestyle choices help prevent cancer’ and ‘information on personal insurance’. The fourth category referred to what was involved in the genetic risk assessment and counselling process, such as ‘what genetic counselling involves’, and ‘what to expect on arrival at clinic’. The least important category was in relation to understanding the technicalities of how genes cause cancer although the mean score was rated as important overall. No differences in information need were observed based on demographic variables, actual or perceived cancer or genetic predisposition risk, cancer worry level, type of cancer, wanting to know about a genetic predisposition or motivations to request genetic risk assessment. However, the mean scores for male participants were lower than females mean scores across all five categories but the Mann–Whitney test showed the difference was not statistically significant and the order of importance was the same as above (Fig. 1). From the logistic regression modelling, several relationships emerged. Personal cancer history (previous cancer diagnosis/no cancer diagnosis) showed participants who had been diagnosed with cancer previously (N = 43 (9%)) held views that were different from those who had not been diagnosed. Those with a cancer history thought it was less important to know about the level of risk (correlation coefficient (CC) = 2.47, P = 0.01, odds ratio (OR) 1.69–83.3) or to understand the screening and prevention options available (CC = 3.085, P = 0.007, OR 2.32–2.06) but they placed greater importance on understanding how genes stopped working properly (CC = -1.61, P = 0.02, OR = 0.05–0.79).
Participants who were from a professional background were associated with rating information about personal insurance as important (CC = -0.62, P = 0.034, OR = 0.30–0.95). However, those with minimal educational qualifications were more likely to rate it as less important (CC = 0.56, P = 0.018, OR = 1.13–270). Post genetic risk assessment participants were also asked to identify three items they wanted to know more about having received their risk assessment. Two items equally rated with highest frequency were: what their risk level means for them n = 173, 51.1% and what symptoms of cancer to look for (n = 173, 51.1%). The other top five priorities; what my risk level means for my family (160, 47.9%), how cancer can be inherited (159, 47.6%) how my risk level was worked out (154, 46.1%), treatment options available to me (149, 44.6%), how my family history relates to me (144, 43.1%). This might explain why retrospectively, 73% (N = 202) of participants thought it was important to have more information prior to receiving their genetic risk assessment and intended to look for more information post their risk assessment. Identifying the most suitable modes of information delivery Participants were asked to indicate which sources of information they were most likely to use (ranging from 1 very unlikely to 4 very likely) if it were available to them, and how trustworthy they rated it (1 = very untrustworthy to 4 = very trustworthy). The mean scores for each was plotted on a graph comparing likelihood of use with the level of trustworthiness and this too remained consistent pre and post genetic risk assessment i.e. no significant difference between the two questionnaires (Fig. 2). Health professionals were considered the most trustworthy and the source most likely to be used, with
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Likely use of source -
4.00
1 Health Professionals 1
3.00 4 7
2.00
5
2 Information Leaflets
2
3 Personal Contact
3
4 Computer-based Learning 5 TV & Radio formats
6
6 Academic/Medical Literature 7 Magazines & Newspapers
1.00 1.00
2.00
3.00
4.00
How trustworthy the source - mean scores 1=very untrustworthy – 4 =very trustworthy
Fig. 2 Scatterplot of the mean scores for likely use of information source versus the trustworthiness of information provided
General Practitioners rated the most highly amongst the health professionals as the most trustworthy source of information. Reaction to finding information In the free form questions, the participants looking for information on the Internet frequently commented on the lack of suitable information available in one place, and that many of the websites were from the United States, which they thought did not reflect UK healthcare. Also many reported cancer websites as distressing and preferred not to access information through websites containing images directly related to cancer and its treatment, reflecting data gathered in Stage 1. For clarity the results reported are taken from the pregenetic risk assessment questionnaire but the findings remained consistent in the post genetic risk assessment questionnaire, although a lower response rate (65%) was achieved in the follow up questionnaire (see limitations). Demographics, risk level and cancer type remained consistent between pre and post questionnaire. The main difference to emerge was the scores in knowledge, with the number of correct replies to the true, false or do not know responses in the knowledge testing section of the questionnaires rising from 67% in the to 87% post genetic risk assessment.
Discussion The survey of patient information need about genetic predisposition to cancer is the largest to date covering all risk categories. Few studies have examined information need for all patients referred for cancer genetic risk assessment irrespective of their actual risk level. Most studies of patient information needs have previously focused on the information needs of those at high risk of a genetic
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predisposition to cancer, particularly breast cancer [5–7, 24, 25]. The findings presented here provide detailed evidence of the information individuals require to assist their understanding and support their decision-making. The aim being to help reassure those patients where genetic testing, prophylactic screening and treatment measures are unnecessary, and to prepare patients where interventions are required, so that they can make informed decisions and ask relevant questions related to their personal situation. There were no differences in information need at the point of referral based on actual or perceived cancer and genetic predisposition risk, and the motivation to undergo genetic risk assessment was the same across risk categories and cancer types. This suggests that generic information can be developed that might improve people’s interpretation of their genetic risk, which is important because following their genetic risk assessment, nearly three-quarters of participants incorrectly thought they were likely to carry a gene predisposing them to cancer. Therefore, many have not understood the genetic risk information provided by the genetics unit and probably explains the high level of expressed information need by participants following their genetic risk assessment. It has been shown that individuals need time to assimilate and accommodate new information [19] and this effect is more exaggerated by personal risk information which may give rise to emotional reactions in the short term [20] before individuals can take a more objective approach. This possibly explains why people coping with new information about cancer and genetics in addition to personal risk advice appear to struggle with the information and then often fail to act upon the advice they are given, in terms of lifestyle change and concordance with screening as observed by others [8, 9]). It may also explain why the patient non-attendance rate is so high in genetics’ units [21]. Improving and supporting people’s adaptation and coping to their personal risk is more likely to be achieved with better information provision, at the right time and by trusted personnel, namely health professionals or sources they recommend. Better information at the point of referral may help prepare people for their genetic risk assessment, so that they have time to assimilate the new information and then upon receiving their risk assessment they can have a better grasp and understanding of how their personal risk level was derived. Improved understanding will allow them to objectify the risk. Information will also provide them with a visual representation of the genetic risk which Marteau and Weinman [9] suggest people require for their concordance with healthy lifestyle and screening options recommendations. Therefore, provision of information along with time to process it, allows individuals to develop a more
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accurate representation of the health threat and the actions they can take to ameliorate the effect. The majority of people report that their most important motivation was to understand their risk, what could be done about it, how it might affect their family and to feel a sense of control. The importance of a sense ‘control’ for individuals in healthcare is now well recognised as an integral part of their coping and adapting to disease or its risk [22]. Again this underscores the importance of providing appropriate information to enable the individual to maintain a sense of personal control and make informed decisions about genetic risk assessment. There is a gender bias in the study with only a small percentage of men participating, however, this reflects the limited numbers of men who access cancer genetic risk assessment. The locus of control in health has been shown to be particularly important for men [23] and therefore a lack of information inhibiting men’s decision-making may explain why so few come forward for genetic risk assessment. A limitation of the study was the receipt of responses from only two ethnic groups, White British and White Irish, however, the same bias is observed in referral patterns for cancer genetic risk assessment. Health professionals in the focus groups suggested that this bias existed due to differences in cultural backgrounds about the perceived benefits and detrimental effects of cancer genetic risk assessment for families from different ethnic groups, including superstitions about even discussing the risk of a disease. Clearly more detailed work is required to examine the differences based on gender and ethnicity if cancer genetic risk assessment is to be utilised by all members of the wider community. The response rate to the post genetic risk assessment was reduced because of changes in the genetic service IT provision. A fifth of participants were not entered onto the database within one month of them receiving their genetic risk assessment, therefore the questionnaire could not be sent to them. Other losses emerged because some participants had died, moved out of the area without leaving a change of address or had chosen to withdraw without attending their genetic counselling appointment. However, the consistency between replies pre and post genetic risk assessment for those who have been able to respond suggest the findings are reliable and can be justifiably be used to inform practice and future research activity. The findings also reflect those found in the Netherlands [24, 25]. The lack of difference in the outcomes based on risk level also suggest that the response rate to the post genetic risk assessment is sufficient to provide meaningful data. The original sample size calculation showed that only 360 participants were required without stratification by risk category, to have a 90% likelihood of reflecting a nonrandom result.
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Finally, we did not keep an accurate record of the large number of people who contacted the research team directly for information about cancer genetic risk assessment but who did not want to take part in study. The two questions most frequently asked were about the detail of cancer genetic risk assessment, firstly ‘how do they collect a sample of your DNA and is it painful?’, and secondly, ‘how can I arrange the test without the counselling, I do not want ‘counselling’, misinterpreting the meaning of the word in the genetic context. As a result of these findings, we suggest that there is a need to develop generic information packages about cancer genetic risk assessment to provide patients with information prior to or at the point of their referral for cancer genetic risk assessment. This information should be easily available and preferably provided or recommended by trusted health professionals. We are currently developing information materials in conjunction with clinical colleagues and aim to assess the effectiveness of these packages in due course. We would also suggest that cancer charities may wish to consider how information is provided about cancer genetic predisposition and not necessarily include it with other information on the diagnosis, treatment and outcomes of cancer. Acknowledgments Patients and health professionals of the West Midlands Regional Genetics Unit who participated in this study. The advice and support of our steering group including Anna Aldred (nee Lane) from the Genetics Interest Group). Special thanks to Deb Onions and her colleagues who provided the administrative support for the study and Gill Plumridge for help with data inputting. We would also wish to acknowledge and thank the BUPA Foundation for funding this study.
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