17%, respectively). A second study of women followed for 1 year after BRCi testing found that only 1 of 29 (3%) unaffected female carriers had a prophylactic mastectomy within 1 year after receiving genetic test results and 13% had a prophylactic oophorectomy. Sixty-eight percent of carriers reported an annual mammogram at the 1-year follow-up, com- pared with 44% of the noncarriers. Women over 40 were more likely to have had an annual mammogram than women between 25 and 39 years old. Of greater concern was the finding that less than 15% of BRCi carriers had the recommended ovarian cancer screening (Lerman et al., 2002).
Psychological and Behavioral Outcomes of Genetic Testing
Overall, this body of research is consistent in the finding that genetic test results have less influence on emotional distress than initially anticipated. Although some studies report initial increases in anxiety following prenatal, carrier, or predictive testing, these effects tend to be transient and not clinically significant. However, there are several important caveats. For example, most research studies have used optimal models of genetic counseling that may have more beneficial outcomes than more minimal approaches used in some clinical settings. In addition, standardized measures of distress may not be sensitive enough to detect more subtle changes in functioning that are specific to genetic testing. Some of these effects are reported anecdotally as occurring in persons who test negative, such as survivor guilt and difficulties adjusting expectations based on "good" news from testing (Lerman et al., 2002).
Another caveat is that analyses of differences between groups of tested individuals (i.e., carriers, noncarriers, decliners) do not reveal within-group variation in adverse psychological effects. With few exceptions, the interactions between personality and dispositional factors with test results have been largely ignored. More sophisticated theoretical models and analytic strategies should be applied to identify possible subgroups of participants that may be more psychologically vulnerable. In this regard, other investigators proposed a novel model to shape research on stress and genetic testing for disease risk. A unique feature of this model is the focus on uncertainty as a stressor characteristic and ambiguity in the appraisal process. Individual differences in tolerance for uncertainty or need for information may be important moderators of the impact of genetic test results on psychological functioning (Lerman et al., 2002).
Also understudied is the effect of genetic testing on the family. One study of HD showed that partners' responses to testing are qualitatively similar to tested individuals. In a study of BRCi testing, researchers found the highest levels of distress among female carriers who had siblings who tested negative. However, distress also was elevated in male noncarriers when siblings' test results were positive. A similar effect of siblings' test results on female noncarriers was reported. The complexity of the family interactions responsible for these findings is unlikely to be captured by ignoring interaction effects or relying on standardized measures of family environment. New measures and analytic strategies specific to these and other issues in genetic testing are needed to tap the richness of family responses and to create a more complete picture of the effects of genetic testing (Lerman et al., 2002).
Reviews on the psychological impact of genetic testing have reported either no change in psychological outcomes among unaffected mutation carriers relative to baseline or decreased anxiety and worry after genetic testing. It has been noted that some studies have consistently shown short-term increases in anxiety among unaffected carriers. Results regarding depression have been mixed. We found that overall genetic testing had no impact of psychological outcomes such as general and specific distress, anxiety, or depression in either carriers or noncarriers. These results held true regardless of the measurement tools used or whether results were reported separately (e.g., anxiety, depression) or combined (as for the results of general distress that may have also included anxiety and depression). We also noted the trend in some studies for there to be short-term (i.e., up to 4 months) increases in some of these measures among carriers, although this trend disappeared with time. The impact of genetic testing on worry was less clear and only a few studies in our review assessed this outcome measure (Lerman et al., 2002).
According to Davison et al., ethical aspects of predictive testing for Huntington's Disease have been a major concern. Salient themes in these discussions have been: the individual's right to know his/her own status; the psychological impact of diagnosing an untreatable lethal disorder and the possibility of encouraging suicide; and the need for counselling and support before and after a test is carried out. Research on Huntington's Disease testing has also uncovered some less expected areas of popular perception and reaction that have major implications for more widespread applications of predictive genetic testing.
Salient among these are:-
a) the realisation that both positive and negative results can cause personal and family anguish or dislocation. While anxiety and depression may be expected to follow a result which indicates that one has the condition, there is some evidence to suggest that those 'escaping' it experience a negative reaction through a kind of survivor guilt (some of their loved ones are or will be victims) and through a feeling of 'not belonging' to the descent group they thought was theirs. They also may have in some senses planned their lives as sufferers; by for example choosing not to reproduce.
b) the recognition that some kin groups within which the disorder has been transmitted have their methods of 'deciding' which individuals will be sufferers. Through a process which has been called 'pre-selection' some families appear to identify a member who has inherited the disorder, and proceed to treat that person as 'sick'. Schooling decisions and both intra and extra familial activities may be circumscribed. While pre-selection is not accurate as a means of identifying affected individuals, Kessler postulates that it functions to reduce: multiple uncertainties . . . As if the chance nature of gene transmission is brought under control and the chronic threat of stochastic processes has been defused.
c) the indication that uncertainty (not knowing the ostensibly precise details of personal risk status) may have a distinct cultural or social value (Davison et al. 1994). The idea that knowing about possible futures may actually decrease the quality of a person's life is not easily accommodated within the essentially rationalist or utilitarian philosophy underlying the idea of screening. One aspect of this is the maintenance of 'hope' (often 'against hope'), as articulated by a tested individual receiving results indicative of high risk:
I feel like someone has died. Part of me has died - the hopeful part.
The key response to what are usually seen as 'psychological problems' by those involved in the development of clinical services has been to stress the importance of counselling and support for those offered predictive testing or their families. Research into, and debates about, the role of counselling have mainly focused on the choice to be tested for carrier or 'sufferer' status, and the relative merits of the termination of affected pregnancies following prenatal genetic diagnosis. Any widespread introduction of predictive testing for adult onset diseases will pose additional ethical dilemmas.
Thus, rather than being a field in which people receive information providing a basis for test on freely-determined action, the reality is that 'whatever counsellors might wish those consulting them or referred to them to think, most people perceive the encounter as one with a high-status medical expert, whose advice has to be taken seriously' (Davison et al., 1994).
Petersen offers individual narratives on the experiences of those affected by genetic testing. The data highlighted a number of broad themes revealed by earlier research on illness narratives: experiences of disruption and uncertainty following the onset of illness, individuals' search for a diagnosis, and their effort to achieve acceptance, independence, and some sense of normality. They also revealed some particular challenges confronting individuals posed by the inheritable nature of their condition. Although people's experiences were diverse, having been shaped by factors such as the nature of their condition, its symptoms and treatment, and prior experience of illness, they tended to involve some recurrent themes. One of these was the quest for information, beginning with diagnosis. A pregnancy or a series of episodes of undiagnosed symptoms such as constant tiredness or bleeding trauma, sometimes following surgery, often led the individual to search for an explanation for their illness. Some respondents said that they came to learn about the nature of their condition after a series of misdiagnoses or non-diagnoses and efforts to seek treatments outside the conventional medical system. The experience of a respondent who has haemochromatosis is not untypical:
'The diagnosis was made after continuous complaints by me. I couldn't seem to recover my health and strength and fitness after I had surgery for cancer, and follow up chemotherapy. People to whom I complained, medical people said I had to be patient to wait to get over this chemotherapy. And, no, I felt I was…