Results
Five principal themes emerged in the analysis. These are described below.
Continuity and normalisation
The main feature of patients’ responses to either a positive or negative diagnosis across all four groups was one of normalisation and continuity, that is, the results of the tests offered no significant challenge to their identities or their lives in the future. This was reflected both in the way they regarded the test results and more generally the implications of a diagnosis.
Many patients in all four categories had realistic expectations of the results of diagnostic testing (i.e. they had an accurate sense of the likely diagnosis) whether it included a genetic test or not. None of the patients who ultimately received positive test results had expected a negative test result, prior to receiving their results, and vice versa. Having had relatives with FH or high cholesterol they knew they were at risk, had undergone cholesterol tests over preceding years, and often talked about the familial context of their risk. If these earlier cholesterol tests had revealed high values then they had assumed that, like their relatives, they had FH. Conversely, if their cholesterol values had been within the normal range, they had assumed they were unaffected. Hence, very few patients expressed much surprise at the outcome of their diagnostic assessments. This did not vary between those whose diagnostic assessments included a genetic test and those whose did not.
Prior to receiving their results, patients typically expressed confidence in anticipating the likely outcome, and indicated that they had already accepted it:
"
(Interviewer: How have you been thinking about the test before coming to the hospital?) I’ve not really been too concerned about it to be honest. I mean I’ll be honest, last time I had my cholesterol checked it was 3.5, it was low. I think my brother’s got it because he tends to have a lot of the symptoms.
"
"(NonDNA, negative, 01, time 1)"
"
(Interviewer: So how would you feel if the results that come back show that you do have FH?) Well I would know that anyway so it wouldn’t surprise me.
"
"(NonDNA, positive, 09, time 1)"
"
I would be a bit shocked actually because I’m so convinced I don’t have it.
"
"(DNA, negative, 03, time 1)"
This expectation of what the test result might reveal was also reflected in later responses to the test result.
"
I wasn’t surprised because I didn’t really think I had it to be honest.
"
"(NonDNA, negative, 01, time 2)"
"
I thought they would be anyway so it just… I was pleased obviously but deep down I thought that would be the case.
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"(DNA, negative, 03, time 2)"
"
Beforehand I knew they would be clear anyway. I haven’t had any problems of history with these sort of problems anyway so I was fairly confident they were going to be alright.
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"(DNA, negative, 04, time 2)"
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I wasn’t surprised. I know there has been a family history of it so it was a 50/50 chance of me having it or not having it.
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"(DNA, positive, 01, time 2)"
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It just confirmed what I expected really. I need to get my blood tests done again for the cholesterol and just keep an eye on it.
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"(DNA, positive, 02, time 2)"
A sense of acceptance of the implications of the results for people’s lives and their ongoing health was also apparent in responses both before and after receiving the test results. Some patients, however, did propose some small adjustments even though the results had been predictable.
"
If my body’s producing it then I’ll just have to learn to live with it really and it’s not stopping me from doing my everyday life. I can still manage to go to work and you know look after my family etc. so it’s not something stopping me in any way. I don’t know I think I’ll just be the same really.
"
"(NonDNA, positive, 08, time 1)"
"
I don’t think it would have a major impact, I’d just have to change my lifestyle slightly, eat a bit more healthily.
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"(DNA, negative, 05, time 1)"
"
It wouldn’t have that much of an impact, like change my life that much. It would worry me slightly about what I’d be eating and that sort of stuff, my diet, but I’m not really a fussy eater so.
"
"(DNA, positive, 03, time 1)"
"
To be honest with you it wouldn’t make me feel any different to how I do now because I am almost convinced that that is the case anyway. It’s something that I’ve lived with for a long time anyway. It doesn’t really affect my health, you know day to day living.
"
"(DNA, positive, 04, time 1)"
This sense of simply getting on with the routine of their lives was also reflected in their responses after the test results. Again, whether the test was a genetic one or not did not seem to make any difference.
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As I say I don’t, it’s not something I’m really worried about. I mean… I felt sort of positive that I wouldn’t have it prior to the test…I’ve not really sort of dwelled on it and sort of… yeah I’ve just sort of got on with life basically
."
"(NonDNA, negative, 07, time 2)"
"
(Interviewer: So how did you feel about your results when you received them at the last appointment?) Okay. I’ve known that I’ve had high cholesterol so I was just pleased that they were increasing the dosage (of Pravastatin).
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"(NonDNA, positive, 09, time 2)"
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I continue to do what I did anyway, which is watch my diet and exercise regularly, and since then, obviously, medication’s come onboard, so I’m fine with it.
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"(NonDNA, positive, 01, time 3)"
"
I was expecting them so I wasn’t too upset. I wasn’t too shocked or alarmed. I was kind of thinking I was going to have them because of my mum and my sister having them so I was quite well prepared for it. I’m alright about it. I just accept the fact that I’ve got it and just deal with it and make it not an issue in my personal health.
"
"(DNA, positive, 10, time 2)"
Reduction of uncertainty
While the diagnosis did not seem to have a great impact on these patients’ lives, they all had immediate reactions which revealed that they were managing to adjust and incorporate this new information into their biographical cognitive framework. For example, many patients reported that the diagnostic test, whatever its outcome, had reduced the uncertainty that surrounded their health status. While most reported clear expectations of what the test might reveal, the actual result removed any residual doubt. Whether a positive or negative test result, from either a genetic or non-genetic test, the removal of uncertainty was generally seen as a good thing, simply because certainty was preferable.
"
It’s best for me knowing now that I haven’t got to sort of alter my lifestyle greatly to sort of try and fight something, through no fault of my own.
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"(NonDNA, negative, 06, time 2)"
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(Interviewer: So what do your test results mean for your health now?) They’re peace of mind you know.
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"(NonDNA, negative, 08, time 3)"
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I guess it’s a relief in a funny way because I had an answer to what was quite a surprising medical condition that I had, which is the stroke that I had…So at least I know now and can take preventative measures
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"(NonDNA, positive, 06, time 2)"
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I mean the whole experience has been a positive thing. Obviously it’s quite scary to start with because you don’t really want to know but it is better to know and to get it sorted. I am relieved.
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"(DNA, negative, 02, time 2)"
Lifestyle reinforcement
Another effect of the diagnosis was to incentivise patients to maintain healthy lifestyles. This was particularly salient for those receiving a positive diagnosis but even in those receiving a negative report there was still an increased awareness that healthy lifestyles were of general benefit. In this way, diagnosis had a reinforcing effect on health-related behaviours but generally seemed not to induce new ones (other than changes to prescribed medication).
Receipt of a negative test result led patients to reflect upon their past and future behaviour. Those undergoing a non-genetic assessment perceived that the risk of having FH was reduced by the adoption of a healthy lifestyle and the prognosis of the disease improved by a healthy lifestyle. The failure to diagnose FH was thus perceived as a vindication of their prior behaviour.
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(Interviewer: What do these test results mean for your health now?) That I carry on eating a healthy diet and making sure I get exercise. I have to continue to monitor my diet and try to keep healthy.
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"(DNA, positive, 02, time 2)"
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It just means that I am obviously doing something right and carry on the way I’m going.
…
if I just carry on doing what I’m doing, keep exercising the way I do and eat what I eat then I should be okay.
"
"(NonDNA, negative, 06, time 2)"
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Well it shows that I am looking after myself.
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"(NonDNA, negative, 07, time 2)"
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It just reinforces that I want to continue to have a healthy lifestyle.
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"(NonDNA, negative, 10, time 3)"
Patients who had a negative diagnosis of FH through a genetic test also attributed their negative diagnoses to healthy living.
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(Interviewer: What does the result mean to you in terms of your health?) That I'm looking after myself, that I'm eating properly, looking after my cholesterol. Just means I need to continue what I’m doing, try and stay away from the fatty foods and the unhealthy stuff and maintain a healthy balanced diet.
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"(DNA, negative, 04, time 2)"
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Perhaps it has something to do with the lifestyle that I've had, because up until like my 30s I was quite an active person, I was quite fit, I was in the Army so I suppose that helps. Whereas my dad he… I think the last time he did anything really physical like that he was at school.
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"(DNA, negative, 06, time 2)"
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I was always interested in sports as a youngster and I’ve kept myself busy, looked after myself and so it didn’t allow any sort of fat, if you like, to develop as much.
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"(DNA, negative, 06, time 3)"
Patients with negative diagnoses in both genetic and non-genetic assessment groups intended to continue to behave healthily in the future.
"
Just again watch what I’m eating really, you know, continue to watch what I’m eating even though I haven’t got it hereditary, you know you can still get it by eating, you know, unhealthily and it’s basically just a healthy lifestyle. Just to continue trying to be healthy and live a healthy lifestyle and eat healthily.
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"(NonDNA, negative, 04, time 2)"
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I wouldn’t say so, no but you can’t be too complacent as in oh right I’ve not got it so I can go out and be really silly and eat lots of silly things, you know you’ve still got to be realistic and think ‘well you know I still have to watch what I eat and do exercise’.
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"(NonDNA, negative, 09, time 2)"
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I will do my damnedest to have more exercise, which I am very lazy now because I do tend to use the car to go everywhere even up to the shop. In the past where I couldn't drive it was quite naive, ride a bike or walk. I must admit I have been quite good in the last month or so, I do walk a lot more.
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"(DNA, negative, 03, time 2)"
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Try not to eat too much junk and get more healthy.
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"(DNA, negative, 05, time 2)"
The importance of FH relative to other conditions
The way in which the diagnosis (or non-diagnosis) was incorporated into everyday lives was also illustrated by a few patients who in the course of the interview revealed that they had other illnesses which were clearly of greater salience. For example, one patient had been diagnosed with hepatitis while another had a long-standing problem of psoriasis. In both cases it was clear that these individuals viewed their other illness as more important than their risk of heart disease.
"
Unfortunately, I've got other problems so, although I've got rid of that I've got other things to contend with anyway. Yeah I'm pleased with that (the FH result) but I've found out I've got Hep C so I go for injections for that so yeah.
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"(DNA, negative, 03, time 3)"
However, the process of engagement with clinical services and accompanying focus on their health associated with FH testing and treatment appeared to enable patients to have greater confidence about addressing other medical concerns. The patient with psoriasis expressed this as follows.
"
One thing that’s changed in my life is that I seem to be sort of at the doctors a lot. And now when you find out there is something wrong I think that I am a little more aware of my health. If something happens I do tend to think “I’ll go and see the doctor about that.” and get it sorted out. So I have psoriasis and things like that, so I try and pay more attention to that and see if I can sort it out. But it’s interesting, I feel like at the age of 40 I’ve had an extremely good medical, I mean they’ve taken blood tests for everything you can think of
."
"(NonDNA, positive, 02, time 3)"
Another patient had recently had a triple heart bypass and it was clear that the FH diagnosis was just a part of the overall recovery process and not a predominant focus.
"
(Interviewer: Do you talk about FH with your partner or family?) Not since the bypass and that, it’s just the road to recovery really, I haven’t really mentioned… we haven’t really discussed it.
"
"(DNA, positive, 09, time 2)"
Overall, the type of test did not seem to affect the saliency of other illnesses.
Social impact
While the results of the diagnostic tests did not seem to have a discernible direct impact on patients’ self-perceptions, it did at times seem to affect their relationships with others. Once they had a positive diagnosis of FH, their social status changed in as much as their strict lifestyle regime was now based on a formal medical category rather than a general motivation to keep healthy. Some patients were therefore surprised when they revealed their FH status (or even their appointment for testing) to others to find general level of concern which was far greater than their own. These effects did not appear to differ by the method of testing.
"
I’m quite a relaxed person but it was the reaction from my peers, my friends and my wife. I’m not secretive but I don’t go on about things very much like that. So when I said I had this appointment and stuff like that at dinner parties and at the pub with friends they were more shocked, they were like “Oh my God”. The fact that I was in any way not perfectly healthy was, it was shocking to them.
"
"(NonDNA, positive, 02, time 1)"
Several patients described difficulty explaining to others their dietary choices in social situations. This at times caused some embarrassment as they have to explain their behaviour in terms of having a medical condition rather than being fussy or needlessly watchful.
"
I mean initially when you say you’re on a low fat diet people assume you’re trying to lose weight or something and they can be quite negative. I’m quite slim and they assume I’m being stupid and trying to starve myself.
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"(DNA, positive, 02, time 2)"
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Some people comment on the things I eat. And then I’m like “well actually I have to eat this because I’ve got FH and I have to watch my diet”.
"
"(DNA, positive, 07, time 3)"
At other times, revealing the diagnosis of high cholesterol led peers to comment negatively on the behaviour of the patient.
"
If you are in discussions with us and you sort of mention that you have high cholesterol, immediately everybody says well it’s due to eating rubbish, it’s due to eating fatty foods, no exercise, things like that. So people assume that because you say you’ve got high cholesterol it’s as a result of things that you’ve done.
"
"(NonDNA, positive, 01, time 2)."
Another patient found that having a positive diagnosis for FH allowed them to respond to similar negative comments about their health and behaviour.
"
I guess the benefit of being able to say “I’ve got FH” means that you can say, “actually it’s not just that I’m a fat boy” but yeah you can actually say “well actually it’s not” because people say, “well if you ate salad and did some exercise” and you can say “actually, it’s not just that it’s…”.
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"(NonDNA, positive, 03, time 2)"