title: Facilitating Informed Decision Making about Breast Cancer Risk and Genetic Counseling Among Women Calling the NCI's Cancer Information Service Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. Patient Satisfaction with Health Care Decisions An exploratory comparison of genetic counselling protocols for HNPCC predictive testing Anxiety and adherence to breast self-examination in women with a family history of breast cancer. Randomized trial of a specialist genetic assessment service for familial breast cancer. Women's knowledge, concerns and psychological reactions before undergoing an invasive procedure for prenatal karyotyping. Effects of risk counseling on interest in breast cancer genetic testing for lower risk women The Genetic Knowledge Index: developing a standard measure of genetic knowledge. Outcome of five years of accelerated surveillance in patients at high risk for inherited breast/ovarian cancer: report of a phase II trial. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. Mid-pregnancy genetic terminations of pregnancy--postnatal assessment and management. Unpublished rating scales: a major source of bias in randomised controlled trials of treatments for schizophrenia.
abstract: ABSTRACT Despite increased interest among the public in breast cancer genetic risk and genetic testing , there are limited services to help women make informed decisions about genetic testing . This study , conducted with female callers ( N = 279 ) to the National Cancer Institute 's ( NCI 's ) Atlantic Region Cancer Information Service ( CIS ) , developed and evaluated a theory-based , educational intervention design ed to increase callers ' underst and ing of the following : ( a ) the kinds of information required to determine inherited risk ; ( b ) their own personal family history of cancer ; and ( c ) the benefits and limitations of genetic testing . Callers requesting information about breast/ovarian cancer risk , risk assessment services , and genetic testing were r and omized to either : ( 1 ) st and ard care or ( 2 ) an educational intervention . Results show that the educational intervention reduced intention to obtain genetic testing among women at average risk and increased intention among high-risk women at 6 months . In addition , high monitors , who typically attend to and seek information , demonstrated greater increases in knowledge and perceived risk over the 6-month interval than low monitors , who typically are distracted from information . These findings suggest that theoretically design ed interventions can be effective in helping women underst and their cancer risk and appropriate risk assessment options and can be implemented successfully within a service program like the CIS OBJECTIVE --To assess the efficiency , reliability , and ease of use of DNA diagnosis for Duchenne and Becker muscular dystrophies ( DMD/BMD ) using the polymerase chain reaction ( PCR ) . DESIGN --DNA from the patients was screened for deletion mutations using multiplex PCR , and the results were compared with those obtained by Southern blot analysis . The PCR multiplex reaction detects nine specific " hot-spot " exons in the dystrophin gene while the Southern analysis detects 66 specific dystrophin gene restriction fragments . The multiplex reaction requires 50-fold less DNA than Southern analysis and thus is considerably more sensitive . SETTING --Fourteen university-affiliated and private genetic disease diagnostic laboratories . PATIENTS --Male patients with clinical signs of DMD/BMD . Cases were selected for analysis r and omly , without knowledge of whether a deletion was present within the dystrophin gene . MAIN OUTCOME MEASURES --The percentage of cases that were detectable by multiplex PCR in comparison with Southern analysis , the frequency , extent , and location of the detected deletion mutations . In some cases , duplication mutations were monitored . RESULTS --The accuracy of a single PCR multiplex amplification ( nine exons ) was compared with Southern analysis with 10 cDNA probes that cover the full length of the gene . The multiplex PCR analytic method detected 82 % of those deletions detected by Southern analysis methods . In one of 745 analyses , the multiplex method suggested a single exon deletion , which was not confirmed by Southern analysis , representing a false-positive rate of 0.013 % . CONCLUSIONS --Multiplex PCR represents a sensitive and accurate method for deletion detection of 46 % of all cases of DMD/BMD . The method requires 1 day for analysis , is easy to perform , and does not use radioactive tracers . As such , multiplex PCR represents an efficient and rapid method for prenatal or postnatal diagnosis of DMD/BMD Patient satisfaction measures have previously addressed satisfaction with medical care , satisfaction with providers , and satisfaction with outcomes , but not satisfaction with the health care decision itself . As patients become more involved in health care decisions , it is important to underst and specific dynamics of the decision itself The  Satisfaction with Decision ( SWD ) scale  measures satisfaction with health care decisions . It was developed in the context of postmenopausal hormone-replacement therapy decisions The six-item scale has excellent reliability ( Cronbach 's alpha = 0.86 ) . Discriminant validity , tested by performing principal- components analysis of items pooled from the SWD scale and two conceptually related measures , was good . Correlation of the  SWD scale  with measures of satisfaction with other aspects of the decision-making process showed the  SWD scale  was correlated most highly ( 0.64 ) with " decisional confidence , " and least with " desire to participate in health care de cisions " and " satisfaction with provider " The  SWD  scale predicts decision certainty in this study . Use in an independent study showed that the  SWD scale  was correlated with the likelihood of patients ' intentions to get a flu shot . Further investigation in relation to other health decisions will establish the utility of the  SWD scale  as an outcome measure Key words : patient satisfaction ; medical decision making ; decision support ( Med Decis Making 1996;16:58 - 64 Most UK genetics centres offering predictive testing for hereditary non‐polyposis colorectal cancer ( HNPCC ) use an extended counselling protocol originally developed for Huntington 's disease . Shortened counselling may be more appropriate in the context of treatable genetic conditions such as HNPCC . Twenty‐six high‐risk individuals were r and omized to extended genetic counselling ( two sessions of education and reflection held 1 month apart ) or shortened genetic counselling ( a single educational session ) prior to HNPCC testing . Prospect i ve question naires , interviews and transcripts of counselling sessions were analysed . Participants were unsure what to expect prior to genetic counselling and had already decided to undergo genetic testing . There was no evidence of psychological harm caused by shortened genetic counselling , with a high level of satisfaction with the counselling received in both groups . Reflective counselling occurred in both groups but was framed in terms of practical action and information . Participants expressed differing preferences for the level of information received . This exploratory study indicates that shortened genetic counselling may be an appropriate means of supporting decisions already made by individuals about HNPCC testing . However , participants would benefit from preparatory information to help them reflect on issues not previously considered , which can then be explored more fully as part of a tailored counselling approach OBJECTIVE Previous research has indicated low rates of adherence to monthly breast self-examination ( BSE ) in women with a family history of breast cancer , and anxiety has been identified as a major factor that may interfere with regular self-examination . However , the direction of the relationship between anxiety and BSE frequency remains unclear , with some studies indicating that high anxiety promotes adherence and others indicating that it leads to avoidance . The aim of the present study was to clarify the relationship between anxiety and adherence to breast self-examination by comparing the impact of general anxiety with that of cancer-specific anxiety on BSE frequency . METHODS A sample of at-risk women ( N=833 ) completed a question naire regarding BSE  frequency  , general anxiety , breast cancer worries , perceived risk of breast cancer , and family history of breast cancer . Women who self-examined infrequently ( N=211 ) , appropriately ( N=462 ) , or excessively ( N=156 ) were compared on these variables . RESULTS Statistical analyses indicated that general anxiety differentiated only between excessive self-examiners and less frequent self-examiners , with excessive self-examiners reporting significantly higher general anxiety . Breast cancer worries differentiated between all three groups in a linear fashion , with increasing cancer worries associated with higher levels of BSE . CONCLUSIONS In some at-risk women , high cancer anxiety may lead to high general anxiety and precipitate hypervigilant breast self-examination rather than avoidance . These findings are discussed in relation to psychoeducational interventions and genetic counseling services for women with a family history of breast cancer BACKGROUND Because of the growing dem and for genetic assessment , there is an urgent need for information about what services are appropriate for women with a family history of breast cancer . Our purpose was to compare the psychologic impact and costs of a multidisciplinary genetic and surgical assessment service with those of current service provisions . METHODS We carried out a prospect i ve r and omized trial of surgical consultation with ( the trial group ) and without ( the control group ) genetic assessment in 1000 women with a family history of breast cancer . All P : values are from two-sided tests . RESULTS Although statistically significantly greater improvement in knowledge about breast cancer was found in the trial group ( P : = .05 ) , differences between groups in other psychologic outcomes were not statistically significant . Women in both groups experienced statistically significant reductions in anxiety and found attending the clinics to be highly satisfying . An initial specialist genetic assessment  cost pound 14.27 ( U.S. $ 22.55 ) more than a consultation with a breast surgeon . Counseling and genetic testing of affected relatives , plus subsequent testing of family members of affected relatives identified as mutation carriers , raised the total extra direct and indirect costs per woman in the trial group to pound 60.98 ( U.S. $ 96.35 ) over costs for the control subjects . CONCLUSIONS There may be little benefit in providing specialist genetics services to all women with a family history of breast cancer . Further investigation of factors that may mediate the impact of genetic assessment is in progress and may reveal subgroups of women who would benefit from specialist genetics services OBJECTIVES To evaluate women 's reasons for having an invasive procedure , their knowledge , how information was obtained , their satisfaction with this information , their concerns about complications and psychological reactions and distress evoked by the procedure . METHODS Ninety-four pregnant women undergoing early amniocentesis or chorionic villus sampling ( CVS ) at 10 - 13 weeks ' gestation participated in a question naire study . The women could choose between early amniocentesis ( n = 38 ) and CVS ( n = 31 ) , or to be r and omized to either of them ( n = 25 ) . RESULTS Apart from two items , no differences were found between the groups . Age was the main reason for testing , and anxiety was stated as a reason by 38.3 % . The women knew more about methods for fetal karyotyping , what the tests can reveal and how they are performed , than about the risks and reliability of the tests . The main source of information had been doctors and midwives at the antenatal care center . For a majority of women ( 64.9 % ) the decision to have the test was made together with their partner . The women 's concerns were focused on worry about fetal injury , miscarriage and waiting for the result . The test did not have a major psychological impact on the women in general , but a substantial minority reacted with anxiety and distress . CONCLUSIONS Knowledge of factors important to women and their concerns is essential for professionals working with genetic counselling and performance of invasive procedures Purpose : A r and omized trial was conducted to test the effects of two counseling methods ( genetic counseling and group counseling ) against a control no-intervention condition on interest in genetic testing in lower risk women . Methods : After completing baseline surveys , women ( N = 357 ) were r and omized to one of three conditions : to receive individual genetic risk counseling , to receive a group psychosocial group counseling , or to serve as a control group . Participants completed follow-up question naires 6 months after r and omization . Results : All participants had some familial history of breast cancer , but none had a family history indicative of autosomal dominant genetic mutation . At baseline over three fourths of the sample judged themselves to be appropriate c and i date s for testing . By the end of the survey , two thirds ( 70 % ) of the women in the counseling group still judged themselves to be appropriate c and i date s for testing . Findings were similar for interest in genetic testing . Changes in beliefs about genetic testing ( e.g. , beliefs about potential stigma associated with testing ) altered the effects of counseling . Conclusion : These results indicate that counseling can change interest in genetic testing only slightly and that changing women ’s beliefs about the properties of testing might be one mechanism of doing so This paper reports on the development of a unidimensional genetic knowledge index that has been tested and vali date d in a general population sample . The Index is intended to provide the basis for a st and ard measure of basic genetic knowledge that can be applied across diverse population s and research setting s. The study group was composed of 330 European Americans selected r and omly in the Louisville , KY , metropolitan area . The final version of the  Genetic Knowledge Index ( GKI ) consisted of five items identified by principle components analysis , correlation coefficients , and the alpha measure of internal consistency . Construct validity of the GKI was determined by appropriate statistical correlations with educational attainment and attitudes toward genetic discrimination . The Index provides a numerical ranking of subjects ' knowledge of practical genetics . Implication s for research are discussed OBJECTIVE To assess the outcome of accelerated patient surveillance in patients at high risk for inherited breast or ovarian cancer . METHODS Using stringent inclusion criteria , 57 high-risk patients ( 7 positive for BRCA1/2 mutations , 39 mutation negative , and 11 unaffected ) were recruited from a genetic testing protocol for inherited breast/ovarian cancer and were followed for 5 years ( 192.5 total patient years ) . Patients received twice annual physical examinations , imaging studies , measurement of CA125 and CA15 - 3 , psychometric measurements , and unstructured interviews by a psychologist . RESULTS When mutation ( + ) and mutation ( - ) patients were compared , there were no significant differences in the development of disease metastasis , recurrence , or new cancers . No unaffected patients developed cancer . Management of osteoporosis , sexual function , and psychological distress were major concerns . CONCLUSIONS Our data suggest that all patients with remarkable family history , regardless of their mutation status , may be at substantially increased risk for disease progression and development of new cancers , which is often not ovarian or recurrent breast cancer . Although prophylactic surgery is important in decreasing cancer recurrence in mutation carriers , increased surveillance with physical examinations and psychological support is also valuable and acceptable to such high-risk patients OBJECTIVES To identify predictors of utilization of  breast-ovarian cancer susceptibility ( BRCA1 gene ) testing  and to evaluate outcomes of participation in a testing program . DESIGN Prospect i ve cohort study with baseline interview assessment of predictor variables ( eg , sociodemographic factors , knowledge about hereditary cancer and genetic testing , perceptions of testing benefits , limitations , and risks ) . BRCA1 test results were offered after an education and counseling session in a research setting . Outcome variables ( including depression , functional health status , and prophylactic surgery plans [ follow-up only ] ) were assessed at baseline and 1-month follow-up interviews . PARTICIPANTS Adult male and female members ( n=279 ) of families with BRCA1-linked hereditary breast-ovarian cancer ( HBOC ) . RESULTS Of subjects who completed a baseline interview ( n=192 ) , 60 % requested BRCA1 test results ( 43 % of all study subjects requested results ) . Requests for results were more frequent for persons with health insurance ( odds ration [ OR ] , 3.74 ; 95 % confidence interval [ CI ] , 2.06 - 6.80 ) ; more first-degree relatives affected with breast cancer ( OR , 1.59 ; 95 % CI , 1.16 - 2.16 ) ; more knowledge about BRCA1 testing ( OR , 1.85 ; 95 % CI , 1.36 - 2.50 ) ; and indicating that test benefits are important ( OR , 1.45 ; 95 % CI , 1.13 - 1.86 ) . At follow-up , noncarriers of BRCA1 mutations showed statistically significant reductions in depressive symptoms and functional impairment compared with carriers and nontested individuals . Individuals identified as mutation carriers did not exhibit increases in depression and functional impairment . Among unaffected women with no prior prophylactic surgery , 17 % of carriers ( 2/12 ) intended to have mastectomies and 33 % ( 4/12 ) to have oophorectomies . CONCLUSIONS Only a subset of HBOC family members are likely to request BRCA1 testing when available . Rates of test use may be higher in persons of a higher socioeconomic status and those with more relatives affected with breast cancer . For some high-risk individuals who receive test results in a research setting that includes counseling , there may be psychological benefits . More research is needed to assess the generalizability of these results and evaluate the long-term consequences of BRCA1 testing STUDY OBJECTIVE To assess the need for and ability to apply a  postnatal assessment protocol ( PNAP ) , consisting of clinical examination , photographs , radiographs , chromosomal analysis and postmortems , of fetuses from mid-pregnancy genetic terminations of pregnancy . DESIGN Prospect i ve hospital-based study . SETTING The maternity unit at the Pretoria Academic Hospital . MAIN RESULTS Fifty consecutively delivered fetuses were assessed by means of the PNAP  after genetic termination of pregnancy . A definitive prenatal diagnosis was available in 17 ( 34 % ) cases . In 33 ( 66 % ) cases the termination was undertaken on the basis of a provisional prenatal diagnosis which was confirmed postnatally in 12 ( 24 % ) cases ; a definitive postnatal diagnosis could not be confirmed in 5 ( 10 % ) cases . In the remaining 16 ( 32 % ) cases a totally different postnatal diagnosis was obtained . The definitive postnatal diagnoses in the 28 cases with provisional prenatal diagnoses were confirmed by clinical examination in 13 ( 26 % ) , by chromosomal analysis in 7 ( 14 % ) , by postmortem in 5 ( 10 % ) and with radiographs in 3 ( 6 % ) . On retrospective analysis , 22 of the 33 provisional prenatal diagnoses could have been confirmed using available radiographs , chromosome results and photographs only . CONCLUSIONS Genetic terminations of pregnancy are a subgroup of stillbirths for which a PNAP is essential to ensure that appropriate postnatal genetic counselling can be given to the parent(s ) BACKGROUND A recent review suggested an association between using unpublished scales in clinical trials and finding significant results . AIMS To determine whether such an association existed in schizophrenia trials . METHOD Three hundred trials were r and omly selected from the Cochrane Schizophrenia Group 's Register . All comparisons between treatment groups and control groups using rating scales  were identified . The publication status of each scale was determined and cl aims of a significant treatment effect were recorded . RESULTS Trials were more likely to report that a treatment was superior to control when an unpublished scale was used to make the comparison ( relative risk 1.37 ( 95 % CI 1.12 - 1.68 ) ) . This effect increased when a ' gold-st and ard ' definition of treatment superiority was applied ( RR 1.94 ( 95 % CI 1.35 - 2.79 ) ) . In non-pharmacological trials , one-third of ' gold-st and ard ' cl aims of treatment superiority would not have been made if published scales had been used . CONCLUSIONS Unpublished scales are a source of bias in schizophrenia trials
target: No single vali date d outcome measure encompassed all potential patient benefits from using a CGS .
  A variety of different domains were identified , including anxiety and depression , coping , decision-making , distress , family environment , health status , knowledge , mood , perception of risk , perceived personal control , psychological impact , quality of life , satisfaction and expectations , self-esteem , spiritual well-being , and worry .
  Some important aspects of patient benefit from CGS are not covered by existing outcome measures .
background: OBJECTIVE This systematic review aim ed to inform research ers and policymakers about what vali date d outcome measures are available to evaluate clinical genetics services ( CGS ) and the need for new measures .