Psychiatry and Behavioral Sciences

The rate of initiation and progression to dependence and premature mortality are higher for tobacco products than for any other dependence producing substance. This is not explained simply by the addictiveness ("abuse liability") or by enticing product designs ("product appeal") alone, but rather by both of these factors in combination with marketing and social influences that also influence "product appeal". A working meeting of leading experts in abuse liability (AL) and product appeal was convened to examine how these disciplines could be more effectively applied to the evaluation of tobacco products for the purposes of regulation that would include setting standards for designs and contents intended to reduce the risk of initiation and dependence. It was concluded that abuse liability assessment (ALA) is a validated approach to testing pharmaceutical products but has not been extensively applied to tobacco products: such application has demonstrated feasibility, but special challenges include the diverse range of products, product complexity, and the absence of satisfactory placebo products. Consumer testing for product appeal is widely used by consumer product marketers as well as by researchers in their efforts to understand consumer product preferences and use but has not been extensively applied to tobacco products except by the tobacco industry. Recommendations for testing, methods development, and research were developed. A major recommendation was that tobacco products should be tested for AL and product appeal, and the results integrated and evaluated so as to more accurately predict risk of initiation, dependence, and persistence of use.

Several studies have reported favorable psychological reactions to predictive testing for Huntington's disease (HD). However, few atrisk persons have been tested, and there is evidence that some at-risk people avoid testing because they fear being unable to cope with the information. Favorable psychological reactions may result from self-selection of persons who believe they are better-equipped to handle “bad news.” We surveyed 32 at-risk persons who had considered, but not chosen, testing and 66 persons who had been previously tested. Twelve persons decided not to be tested (No group); 20 persons postponed testing until some later date (Maybe group). Of the two untested groups, a significantly greater number of the No group had not been tested because they anticipated problems associated with their emotional reactions. The persons in the Tested group had less often anticipated problems with their emotional reactions; and among the minority who had anticipated some problems, most did not question their ability to cope. We conclude that the Tested persons are psychologically selected for favorable responses to genetic testing.Surveys of health professionals suggest that a sizable minority would disclose genetic disease risk whether or not people want it. Thus, people who would not choose to be tested might be persuaded to do so, or have results thrust upon them. We should be wary about assuming that the generally favorable reactions to HD testing will continue when testing becomes more widespread, as is likely to happen with simplification of the technology and acceptance of these tests by the medical community. © 1994 Wiley-Liss, Inc.

The impact of predictive genetic testing for Huntington's disease (HD) was assessed in 68 persons at high (n = 17) or low risk (n = 51) for the disease at one to six years following disclosure of test results. There was consensus in both groups that knowledge of HD genetic status was beneficial. A majority of persons felt relief from wondering and uncertainty. High-risk persons identified greater family closeness and financial security. For low-risk persons, the knowledge that their children were spared offered great consolation. Negative effects in high-risk persons were psychological burden (worry, guilt). Even for low-risk subjects, there was a period of adjustment and, in some, disappointment that low risk had not alleviated problems unrelated to HD. Although the majority of marriages were unaffected by testing, some persons in both groups reported that their marriages sustained positive or negative impact. Despite mixed consequences, most did not regret being tested. The benefits of testing appear to outweigh its drawbacks, at least among this self-selected group of research participants. We also must conclude, however, that predictive genetic testing will result in negative as well as positive consequences, regardless of test outcome. © 1994 Wiley-Liss, Inc.

Children who carry a gene mutation for familial adenomatous polyposis are virtually certain to develop colorectal cancer without annual endoscopic screening and a colectomy when polyps appear. Predictive genetic testing can identify children who need regular surveillance. While the medical benefits of genetic testing are clear, the psychological effects have not been well studied. We evaluated the long-term psychological effects of genetic testing in 48 children and their parents. In each family, one parent was a known APC gene mutation carrier. Before genetic testing, and three times afterward, participants completed measures of psychological functioning, which, for children, included depression and anxiety symptoms, and behavior problems and competencies. Parents completed a measure of depression symptoms. Data were collected at 3-, 12-, and 23–55 months after disclosure. Twenty-two children tested positive; 26 children tested negative. Mean length of follow-up was 38 months. There were no clinically significant changes in mean psychological test scores in children or parents, regardless of the children's test results or the sex of the affected parent. However, the group of children who tested positive and had a mutation-positive sibling showed significant, but subclinical, increases in depression symptoms. Furthermore, several individual mutation-negative children with a positive sibling had clinical elevations in anxiety symptoms at one or more follow-up. Behavior problems declined for all groups, and behavior competence scores remained unchanged. We conclude that most children do not suffer clinically significant psychological distress after testing. However, because some children showed clinically significant anxiety symptoms, long-term psychological support should be available to those families with both mutation-positive and mutation-negative children, and with multiple mutation-positive children. Our findings should call for a multidisciplinary approach to genetic testing for children. © 2002 Wiley-Liss, Inc.

The aim of this study was to examine basal ganglia volumes and regional cerebral blood flow in asymptomatic subjects at-risk for Huntington's disease who had undergone genetic testing. We determined which measures were the best 'markers' for the presence of the mutation and for the onset of symptoms. Twenty subjects who were Huntington's disease gene mutation-positive and 24 Huntington's disease gene mutation-negative participants, all of whom had a parent with genetically confirmed Huntington's disease, and were therefore 50% at-risk for inheriting the Huntington's disease gene mutation, were included in the study. To evaluate basal ganglia structure and function, MRI and single photon emission computed tomography (SPECT) were used. Quantitative measures of regional volumes and relative measures of regional perfusion were calculated. SPECT and MRI scans were co-registered so that MRI anatomy could be used accurately to place SPECT regions. Estimated years-toonset in the mutation-positive subjects was calculated based on a regression formula that included gene (CAG) n repeat length and parental age of onset. Changes in imaging measures in relation to estimated years-to-onset

Previous research by our group demonstrated a longitudinal change in caudate volume for symptomatic subjects with Huntington's disease (HD), and suggested that volume of the caudate may be a useful outcome measure for therapeutic studies in symptomatic patients. The current study was designed to determine whether longitudinal change in caudate atrophy could be documented in presymptomatic carriers of the HD gene mutation, and to compare rate of change in these subjects with rate of change in mildly and moderately affected symptomatic patients. We measured caudate volumes on serial magnetic resonance image scans from 30 patients at three stages of HD: 10 presymptomatic; 10 with mild symptoms, as indicated by scores on the Quantified Neurological Exam (QNE) Յ35; and 10 with moderate symptoms (QNE >45). The mean interscan interval was 36 months. When analyzed separately, both symptomatic groups and the presymptomatic group demonstrated a significant change in caudate volume over time. Amount of change over time did not differ significantly among the three groups. We conclude that change in caudate volume may be a useful outcome measure for assessing treatment effectiveness in both presymptomatic and symptomatic subjects.