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Overemphasis of Psychological Risks of Genetic Testing May Have "Dire" Consequences • In Response to Palmer, Kagee, Kruus, Coyne

Horowitz et al.¹ caution that clinicians should be aware of the likelihood of patients' adverse reactions to receipt of genetic testing for risk of cancer and other late-onset diseases. Until recently, there had indeed been widespread concerns about what Horowitz et al. deem "turbulent, emotional reactions" resulting from genetic testing, and it was suggested that the risk of traumatization be weighed against the potential benefits of undergoing testing for decision making purposes. However, the theory, predictions, and vivid clinical examples presented by Horowitz et al., and the dramatic title of their article, are inconsistent with accumulating data indicating that genetic testing does not typically carry "dire" consequences.²

One reason why patients fare better than expected may be that individuals pursuing genetic testing already know that they are at increased risk of disease on the basis of family history or ethnicity. Genetic testing may provide resolution to a larger stress process in which individuals have extensive family experience with illness and preexisting concerns about personal risk. Testing may thus be a valuable tool for making decisions relevant to risk management. Most individuals undergoing genetic testing cope well with the results, and most distress resolves quickly.² Even among those receiving confirmation that they are mutation carriers, distress levels tend to decrease shortly after testing.³

A recent review of the psychosocial consequences of genetic testing concludes that whether individuals are found to carry a risk-conveying mutation is "rarely predictive of distress more than 1 month after testing."² (p. 731) Furthermore, in contrast to test results, pretest psychological functioning does predict long-term posttest emotional outcomes.^2–4 Taken as a whole, these data suggest that neither testing itself nor confirmation of positive mutation status pose significant psychological risks. Moreover, given that psychological outcome is dependent on pretest functioning, it is reassuring to note that psychiatric disorder and levels of distress among individuals choosing to undergo genetic testing are, on the whole, low and within the range expected in community samples.^2–5 There may well be some self-selection for psychological resources in the decision to move forward with testing.⁴

We do not wish to trivialize the significance of individuals' decision concerning whether to obtain genetic testing. Yet, such decisions need to be placed in their proper perspective, and it is important that we not preemptively make interest in testing a mental health issue. Professionals' focusing on the exaggerated risk of "dire" consequences of testing may unnecessarily frighten patients and deter them from making a reasoned decision weighing the balance of costs and benefits of knowing their status. It would be a mistake to maintain the inaccurate conception of genetic testing as a traumatic experience or overemphasize the likelihood of "stress-response syndromes" resulting from testing. Focusing our attention on these unlikely outcomes potentially diverts limited resources from educational counseling and decision aids that are likely to have a greater value on a population basis than the requirement of psychological screening or follow-up with specialized mental health services.

REFERENCES

1. Horowitz M, Sundlin E, Zanko A, et al: Coping with grim news from genetic testing. Psychosomatics 2001; 42:100-105[Abstract/Free Full Text]
2. Broadstock M, Michie S, Marteau T: Psychological consequences of predictive genetic testing: a systematic review. Eur J Hum Gen 2000; 8:731-738[CrossRef][Medline]
3. Marteau TM, Croyle RT: The new genetics: psychological responses to genetic testing. Br Med J 1998; 316:693-696[Free Full Text]
4. Meisera B, Dunnb S: Psychological impact of genetic testing for Huntington's disease: an update of the literature. J Neurol Neurosurg Psychiatry 2000; 69:574-578[Abstract/Free Full Text]
5. Coyne JC, Benazon NR, Gaba CG, et al: Distress and psychiatric morbidity among women from high-risk breast and ovarian cancer families. J Consult Clin Psychol 2000; 68:864-874[CrossRef][Medline]

In Response to Palmer, Kagee, Kruus, Coyne

First let me state the clear agreement on the issue of the value of genetic testing. Testing is a valuable tool for making future life decisions. Most of the people that have the testing will not develop psychopathology as a consequence of the bad news itself. The possibility that a fraction of the tested populations who receive very bad news will develop stress-response syndromes should not deter people from seeking the advantage of preparation for future risks.

Where then is the area of minor disagreement? It has to do with the percentage of cases likely to have stress response syndromes. The authors of the letter use the phrases "inaccurate conception of genetic testing as traumatic experience," and "overemphasize the likelihood of stress response syndromes resulting from testing." It is true that the data using methods of assessments such as our Impact of Events Scale, which assesses self-report of intrusive and avoidance experiences after receiving bad news from genetic testing, do not show a majority of cases as having persisting symptomatology. But as some cases do show such responses, we feel that it would be wise for professionals to be alert to stress syndromes in hopefully a small percentage of cases.

Once again, this area of disagreement is considerably less than the area of our agreement where our colleagues say that testing can be very valuable for people in planning their lives. The real possibility of having stress-response syndromes after persons receive the results of such tests should not deter institutions from providing resources for both testing and for the educational and decision making aids that are represented by such fields as genetic counseling. Psychosocial supports will reduce the likelihood of stress-response syndromes from occurring. If and when syndromes do occur, psychiatric evaluation, diagnosis, and treatment are indicated.

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