Michel Dorval

EFFECT OF PLAYING A VIDEO GAME ON A MEASURE OF SPATIAL VISUALIZATION

70 undergraduate students, without any prior experience of video games playing, were given a pretest and a posttest on the Space Relations Test of the DAT, Forms A and B being, respectively, administered on the two occasions. The experimental group of 38 had eight sessions of playing the Zaxxon video game, each session including five plays. The control group of 32 received no such treatment. A 2(sex) by 2(group) analysis of covariance, using pretest scores as the covariate, yielded a significant effect for group which supports the hypothesis that spatial visualization test scores can be improved by video game playing. Moreover, the sex-related difference in visual-spatial skills frequently reported does not appear on the pretest. Finally, no effect for sex and no interaction of group × sex were found, indicating that both male and female subjects gained equally from playing Zaxxon.

Sharing BRCA1/2 Test Results With First-Degree Relatives: Factors Predicting Who Women Tell

PURPOSE Patient communication with relatives about cancer genetic test results is the primary means for alerting those who may benefit from identification of hereditary risk. This study identifies factors predicting patterns of disclosure of BRCA1/2 test results to first-degree relatives (FDRs) among women tested in a clinical protocol. PATIENTS AND METHODS A total of 273 women completed a family communication measure 4 months after BRCA1/2 result disclosure. chi2 analyses and logistic regression models identified factors predicting sharing of the test result. RESULTS Most FDRs were informed of the participants test result by 4 months; female relatives were more likely to be informed than males. Tested women conveyed inconclusive results (variant or negative without known familial mutation) less frequently to their sisters than conclusive (positive/true negative) results (P = .03). Twenty-three percent of participants did not inform their father. Informing brothers was more likely when BRCA1/2 was inherited through paternal lineage (P = .04), but 29% of brothers were not informed. Women older than age 40 were less likely to share their result with their parents (P = .03) than were women < or = 40. Childrens ages influenced communication to offspring; most children were told. CONCLUSION Demographic, health-, and test-related factors predicted genetic test result communication to FDRs. Additional research investigating the full spectrum of discussion within families and motives for incomplete sharing of genetic test results with relatives may suggest strategies for providers and targeted educational interventions for patients to enhance family communication.

Type of mastectomy and quality of life for long term breast carcinoma survivors

Despite numerous studies of partial mastectomy and psychologic morbidity in the first 24 months following surgery, little is known about the long term psychosocial repercussions of partial and total mastectomy.

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

Background and objective: In clinical settings with fixed resources allocated to predictive genetic testing for high-risk cancer predisposition genes, optimal strategies for mutation screening programmes are critically important. These depend on the mutation spectrum found in the population under consideration and the frequency of mutations detected as a function of the personal and family history of cancer, which are both affected by the presence of founder mutations and demographic characteristics of the underlying population. The results of multistep genetic testing for mutations in BRCA1 or BRCA2 in a large series of families with breast cancer in the French-Canadian population of Quebec, Canada are reported. Methods: A total of 256 high-risk families were ascertained from regional familial cancer clinics throughout the province of Quebec. Initially, families were tested for a panel of specific mutations known to occur in this population. Families in which no mutation was identified were then comprehensively tested. Three algorithms to predict the presence of mutations were evaluated, including the prevalence tables provided by Myriad Genetics Laboratories, the Manchester Scoring System and a logistic regression approach based on the data from this study. Results: 8 of the 15 distinct mutations found in 62 BRCA1/BRCA2-positive families had never been previously reported in this population, whereas 82% carried 1 of the 4 mutations currently observed in ⩾2 families. In the subset of 191 families in which at least 1 affected individual was tested, 29% carried a mutation. Of these 27 BRCA1-positive and 29 BRCA2-positive families, 48 (86%) were found to harbour a mutation detected by the initial test. Among the remaining 143 inconclusive families, all 8 families found to have a mutation after complete sequencing had Manchester Scores ⩾18. The logistic regression and Manchester Scores provided equal predictive power, and both were significantly better than the Myriad Genetics Laboratories prevalence tables (p<0.001). A threshold of Manchester Score ⩾18 provided an overall sensitivity of 86% and a specificity of 82%, with a positive predictive value of 66% in this population. Conclusion: In this population, a testing strategy with an initial test using a panel of reported recurrent mutations, followed by full sequencing in families with Manchester Scores ⩾18, represents an efficient test in terms of overall cost and sensitivity.

No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result

Background: Little is known about how women who receive an inconclusive result from BRCA1/2 testing interpret their result. Clinical observations suggest that some of them may be falsely reassured and, consequently, may not adhere to recommended surveillance. The purpose of this study is to evaluate whether women with inconclusive BRCA1/2 test results are falsely reassured. Methods: Participants were adult women with a family history suggestive of a germ-line mutation in either the BRCA1 or the BRCA2 gene who underwent genetic testing in the context of the interdisciplinary research program INHERIT BRCAs. Data were collected using selfadministered questionnaires at genetic counseling and 1 month after result disclosure. Reassurance was assessed through indicators of cancer risk perception, cancer worry, relief following result disclosure, painfulness of the test result, and its effect on quality of life. Results: Five-hundred women (105 carriers, 140 noncarriers, and 255 inconclusive) were included in this analysis. Compared to noncarriers, women with inconclusive results had higher cancer risk perception, were more worried about cancer, were less relieved by their test result, and perceived their quality of life as being more adversely affected by it. Conclusion: The differences observed between noncarriers and women who received an inconclusive result run counter to the hypothesis that the latter are falsely reassured following BRCA1/2 testing. For clinicians, our findings show the value of taking precautions to fully explain to women that inconclusive results do not rule out the possibility that they still may face a higher risk of developing breast and/or ovarian cancer. (Cancer Epidemiol Biomarkers Prev 2005;14(12):2862–7)

A brief pain diary for ambulatory patients with advanced cancer

Undertreatment of pain is common among ambulatory patients with advanced cancer. Available pain assessment tools are complex and not easy to use in ambulatory care settings.

Health Behaviors and Psychological Distress in Women Initiating BRCA1/2 Genetic Testing: Comparison with Control Population

The study objective was to compare breast cancer screening practices, lifestyle behaviors and psychological distress among 640 women initiating BRCA1/2 testing to those among 9,498 similarly-aged women from the general population. Health behaviors and psychological distress were reported in a self-administered questionnaire at pre-test genetic counseling. Regression analyses indicate that high-risk women were more frequently performing breast cancer screening and, in the case of those previously diagnosed with cancer, were more likely to be non-smokers and physically active than women from general population. However, women initiating BRCA1/2 testing were significantly more distressed than controls. Globally, high-risk women seemed to be well informed about recommendations for women who are at high risk and to have access to screening adapted to their risk level. Given their significant psychological distress, providing minimal psychosocial support to all women undergoing BRCA1/2 testing at pre-test genetic counseling is relevant.

Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study

Objectives To develop a brief, reliable and valid instrument to screen psychosocial risk among those who are undergoing genetic testing for Adult-Onset Hereditary Disease (AOHD). Design A prospective two-phase cohort study. Setting 5 genetic testing centres for AOHD, such as cancer, Huntingtons disease or haemochromatosis, in ambulatory clinics of tertiary hospitals across Canada. Participants 141 individuals undergoing genetic testing were approached and consented to the instrument development phase of the study (Phase I). The Genetic Psychosocial Risk Instrument (GPRI) developed in Phase I was tested in Phase II for item refinement and validation. A separate cohort of 722 individuals consented to the study, 712 completed the baseline package and 463 completed all follow-up assessments. Most participants were female, at the mid-life stage. Individuals in advanced stages of the illness or with cognitive impairment or a language barrier were excluded. Interventions Phase I: GPRI items were generated from (1) a review of the literature, (2) input from genetic counsellors and (3) phase I participants. Phase II: further item refinement and validation were conducted with a second cohort of participants who completed the GPRI at baseline and were followed for psychological distress 1-month postgenetic testing results. Primary and secondary outcome measures GPRI, Hamilton Depression Rating Scale (HAM-D), Hamilton Anxiety Rating Scale (HAM-A), Brief Symptom Inventory (BSI) and Impact of Event Scale (IES). Results The final 20-item GPRI had a high reliability—Cronbachs α at 0.81. The construct validity was supported by high correlations between GPRI and BSI and IES. The predictive value was demonstrated by a receiver operating characteristic curve of 0.78 plotting GPRI against follow-up assessments using HAM-D and HAM-A. Conclusions With a cut-off score of 50, GPRI identified 84% of participants who displayed distress postgenetic testing results, supporting its potential usefulness in a clinical setting.

Five questions predicted long-term, severe, back-related functional limitations: evidence from three large prospective studies

OBJECTIVES The objectives of the study were as follows: (1) to investigate whether the predictive validity of a previously developed back pain prediction rule could be improved; (2) to determine if the rule can be shortened without loss of predictive validity; (3) to compare the rule with the physicians judgment; (4) to assess, in a different population, its 2-year predictive validity; and (5) to evaluate the clinical applicability of the rule in a first-line care setting. STUDY DESIGN AND SETTING One thousand two hundred and sixty-two participants were enrolled in the study (participation: 91%) before a medical consultation for nonspecific back pain in a large emergency room and were followed up for 2 years (follow-up: 92.5%). The effects of adding new items and deleting any one of the original items were evaluated. The predictions by the rule and the physicians were compared with the 2-year actual functional limitations (measured with the Roland-Morris Disability Questionnaire). RESULTS Although the final prediction rule included only five items (feeling everything is an effort, trouble getting breath, hot/cold spells, numbness/tingling in parts of body, and pain in heart/chest), its predictive validity was greater than that of the original 17-item version and was superior to the physicians prediction. The rule was easily applied. CONCLUSION A five-item clinical prediction rule of long-term back-related functional limitations could help first-line care physicians to concentrate the clinical attention on patients at higher risk.

Use of Dietary Supplements Among Women at High Risk of Hereditary Breast and Ovarian Cancer (HBOC) Tested for Cancer Susceptibility

Abstract: Although use of dietary supplements among women with breast cancer is high, use among women at high risk of hereditary breast and ovarian cancer (HBOC) is unknown. This study assesses the prevalence of use of dietary supplements and identifies characteristics associated with use among women at high risk of HBOC who underwent genetic testing for cancer susceptibility. Participants were 303 women who underwent BRCA1/2 testing as part of Interdisciplinary Health Research International Team on Breast Cancer Susceptibility. Dietary supplements use was measured 12 mo post-disclosure. Potential determinants of use included personal cancer history, test result, psychological distress, cancer genetics knowledge, and health-related behaviors. Globally, 51% of participants used at least one dietary supplement. Calcium (26%), multivitamins (17%), vitamins D (14%), E (12%), and C (10%) were most frequently reported. Women ≥ 50 yr were more likely to be using dietary supplements (P < 0.0001). Women with an inconclusive test result were more likely to use mineral supplements than noncarriers [odds ratio (OR) = 2.6; 95% confidence interval (CI) = 1.3-5.3]. Cigarette smoking was negatively associated with use of vitamin supplements (OR = 0.3; 95% CI = 0.1-0.7). Use of dietary supplements among women at high risk of HBOC who underwent BRCA1/2 testing is as frequent as use among patients with other types of tumors or use among individuals from the general population.