Outcome Measurement in Clinical Genetics Services: A Systematic Review of Validated Measures

Value in Health - Tập 11 - Trang 497-508 - 2008
Katherine Payne1,2, Stuart Nicholls1,2, Marion McAllister1,3, Rhona MacLeod3,2, Dian Donnai1,3,2, Linda M. Davies2
1Nowgen, The North West Genetics Knowledge Park, Manchester, UK
2The University of Manchester, Manchester, UK
3Central Manchester and Manchester Children's University Hospitals NHS Trust, Manchester, UK

Tài liệu tham khảo

Coventry, 1999, From what and why did genetics emerge as a medical specialism in the 1970s in the UK? A case-history of research, policy and services in the Manchester region of the NHS, Soc Sci Med, 49, 1227, 10.1016/S0277-9536(99)00162-8 Fraser, 1975, Genetic counselling, Am J Hum Genet, 27, 240 Donnai, 2002, Genetic services, Clin Genet, 61, 1, 10.1034/j.1399-0004.2002.610101.x Acquadro, 2001, Incorporating the patient's perspective into drug development and communication: an ad hoc task force report of the Patient-Reported Outcomes (PRO) Harmonization Group meeting at the Food and Drug Administration, Value Health, 6, 522, 10.1046/j.1524-4733.2003.65309.x Carlson, 2005, Economic analysis of human genetics services: a systematic review, Genet Med, 7, 519, 10.1097/01.GIM.0000182467.79495.e2 Jarrett, 2006, Genetic health technology and economic evaluation. A critical review, Appl Health Econ Health Policy, 5, 27, 10.2165/00148365-200605010-00004 Wang, 2004, Assessment of genetic testing and related counselling services: current research and future directions, Soc Sci Med, 58, 1427, 10.1016/S0277-9536(03)00337-X Royal College of Physicians, 1998 Royal College of Physicians, 1998 Clarke, 1997, Outcomes and process in genetic counselling, Clin Genet, 50, 462, 10.1111/j.1399-0004.1996.tb02713.x MacLeod R. The genetic counselling process: an interpretative phenomenological analysis of patient–counsellor interactions. PhD Thesis, The University of Manchester, 2003. Bernhardt, 2000, Goals, benefits and outcomes of genetic counselling: client and genetic counsellor assessment, Am J Med Genet, 94, 189, 10.1002/1096-8628(20000918)94:3<189::AID-AJMG3>3.0.CO;2-E Biesecker, 2001, Process studies in genetic counselling: peering into the black box, Am J Med Genet, 106, 191, 10.1002/ajmg.10004 Bekker, 1999, Informed decision making: an annotated bibliography and systematic review, Health Tech Assess, 3, 1, 10.3310/hta3010 Meiser, 2002, What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review, Soc Sci Med, 54, 1463, 10.1016/S0277-9536(01)00133-2 Vadaparampil, 2005, Measurement of psychological factors associated with genetic testing for hereditary breast, ovarian and colon cancers, Fam Cancer, 4, 195, 10.1007/s10689-004-1446-7 Katapodi, 2004, Predictors of perceived breast cancer risk and the relation between perceived risk and breast cancer screening: a meta-analytic review, Prev Med, 3, 388, 10.1016/j.ypmed.2003.11.012 Bowen, 2002, Effects of risk counselling on interest in breast cancer genetic testing for lower risk women, Genet Med, 4, 359, 10.1097/00125817-200209000-00007 Brain, 1999, Anxiety and adherence to breast self-examination in women with a family history of breast cancer, Psychosom Med, 61, 181, 10.1097/00006842-199903000-00010 Brain, 2000, Randomized trial of a specialist genetic assessment service for familial breast cancer, J Natl Cancer Inst, 92, 1345, 10.1093/jnci/92.16.1345 Brain, 2005, An exploratory comparison of genetic counselling protocols for HNPCC predictive testing, Clin Genet, 68, 255, 10.1111/j.1399-0004.2005.00491.x Cederholm, 1999, Women's knowledge, concerns and psychological reactions before undergoing an invasive procedure for prenatal karyotyping, Ultrasound Obstet Gynecol, 14, 267, 10.1046/j.1469-0705.1999.14040267.x Berkenstadt, 1999, Perceived personal control (PPC): a new concept in measuring outcome of genetic counselling, Am J Med Genet, 82, 53, 10.1002/(SICI)1096-8628(19990101)82:1<53::AID-AJMG11>3.0.CO;2-# Collins, 2005, Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma, Cancer, 104, 273, 10.1002/cncr.21183 Dorval, 2000, Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs, J Clin Oncol, 18, 2135, 10.1200/JCO.2000.18.10.2135 Drake, 1999, Development and evaluation of a decision aid about prenatal testing for women of advanced maternal age, J Genet Couns, 8, 217, 10.1023/A:1022998415890 Stalmeier, 1999, Evaluation of a shared decision making program for women suspected to have a genetic predisposition to breast cancer: preliminary results, Med Decis Making, 19, 230, 10.1177/0272989X9901900302 Trask, 2001, Cancer-specific worry interference in women attending a breast and ovarian cancer risk evaluation program: impact on emotional distress and health functioning, Psychooncology, 10, 349, 10.1002/pon.510 Biesecker, 2000, Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families, Am J Med Genet, 93, 257, 10.1002/1096-8628(20000814)93:4<257::AID-AJMG1>3.0.CO;2-8 Decruyenaere, 1995, Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants, Genet Couns, 6, 1 Decruyenaere, 1999, Psychological functioning before predictive testing for Huntington's disease: the role of the parental disease, risk perception, and subjective proximity of the disease, J Med Genet, 36, 897 Fries, 2004, Outcome of five years of accelerated surveillance in patients at high risk for inherited breast/ovarian cancer: report of a phase II trial, Mil Med, 169, 411, 10.7205/MILMED.169.6.411 Grosfeld, 2000, Parents' responses to disclosure of genetic test results of their children, Am J Med Genet, 94, 316, 10.1002/1096-8628(20001002)94:4<316::AID-AJMG10>3.0.CO;2-N Michie, 1997, Information recall in genetic counselling: a pilot study of its assessment, Patient Educ Couns, 32, 93, 10.1016/S0738-3991(97)00068-2 Schwartz, 2003, Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/BRCA2 mutation testing, J Clin Oncol, 21, 4034, 10.1200/JCO.2003.01.088 Kromberg, 1999, Utilisation of predictive, prenatal and diagnostic testing for Huntington's disease in Johannesburg, S Afr Med J, 89, 774 Miller, 2005, Facilitating informed decision making about breast cancer risk and genetic counselling among women calling the NCI's Cancer Information Service, J Health Commun, 10, 119, 10.1080/07366290500265335 Wolraich, 1985, Medical Communication Behaviour System. An interactional analysis system for medical interactions, Med Care, 24, 891, 10.1097/00005650-198610000-00003 Ambros, 2003, Quality assessment of genetic markers used for therapy stratification, J Clin Oncol, 21, 2077, 10.1200/JCO.2003.03.025 Andersson, 1995, Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods, J Intern Med, 237, 301, 10.1111/j.1365-2796.1995.tb01179.x Chamberlain, 1992, Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction: a multicenter study, J Am Med Assoc, 267, 2609, 10.1001/jama.1992.03480190051030 Taylor, 2003, Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA, Hum Mutat, 22, 428, 10.1002/humu.10291 Cabana, 1998, Consequences of the delayed diagnosis of ataxia-telangiectasia, Pediatrics, 102, 98, 10.1542/peds.102.1.98 Christianson, 1995, Mid-pregnancy genetic terminations of pregnancy–postnatal assessment and management, S Afr Med J, 85, S1084 Park, 2002, Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study, Int J Colorectal Dis, 17, 109, 10.1007/s003840100348 Ward, 1991, Measurement precision and reliability in craniofacial anthropometry: implications and suggestions for clinical applications, J Craniofac Genet Dev Biol, 11, 156 Kim, 2002, Parental decisions of pre-natally detected sex chromosome abnormality, J Korean Med Sci, 17, 53, 10.3346/jkms.2002.17.1.53 Modell, 2001, A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom, Bull World Health Organ, 79, 1006 Donovan, 2000, Knowledge about genetic risk for breast cancer and perceptions of genetic testing in a socio-demographically diverse sample, J Behav Med, 23, 15, 10.1023/A:1005416203239 Marshall, 2000, Unpublished rating scales: a major source of bias in randomised controlled trials of treatments for schizophrenia, Br J Psychiatry, 176, 249, 10.1192/bjp.176.3.249 Michie, 1997, Patient decision making: an evaluation of two different methods of presenting information about a screening test, Br J Health Psychol, 2, 317, 10.1111/j.2044-8287.1997.tb00545.x Stalmeier, 2005, The decision evaluation scales, Patient Educ Couns, 57, 286, 10.1016/j.pec.2004.07.010 O'Connor, 1995, Validation of a decisional conflict scale, Med Decis Mak, 15, 25, 10.1177/0272989X9501500105 Bunn, 1996, Validation of client decision-making instruments in the context of psychiatry, Can J Nurs Res, 28, 13 Ondrusek, 1999, Development of a knowledge scale about breast cancer and heredity (BCHK), Breast Cancer Res Treat, 53, 69, 10.1023/A:1006114710328 Lerman, 1996, BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes, JAMA, 275, 1885, 10.1001/jama.1996.03530480027036 Furr, 1999, The genetic knowledge index: developing a standard measure of genetic knowledge, Genet Test, 3, 193, 10.1089/gte.1999.3.193 Braitman, 1978, Development of instruments to measure counselees' knowledge of Down syndrome, Clin Genet, 13, 25, 10.1111/j.1399-0004.1978.tb04126.x Goel, 1996, Evaluating patient's knowledge of maternal serum screening, Prenat Diagn, 16, 425, 10.1002/(SICI)1097-0223(199605)16:5<425::AID-PD874>3.0.CO;2-2 Averill, 1973, Perceived control over aversive stimuli and its relationship to stress, Psychol Bull, 80, 286, 10.1037/h0034845 Read, 2005, Design and psychometric evaluation of the Psychological Adaptation to Genetic Information Scale, J Nurs Scholarsh, 37, 203, 10.1111/j.1547-5069.2005.00036.x Westbrook, 1979, A classification of coping behaviour based on multidimensional scaling of similarity ratings, J Clin Psychol, 35, 407, 10.1002/1097-4679(197904)35:2<407::AID-JCLP2270350236>3.0.CO;2-P Van Oostrum, 2003, Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study, J Clin Oncol, 21, 3867, 10.1200/JCO.2003.10.100 Mesters, 1997, Openness to discuss cancer in the nuclear family: scale, development and validation, Pychosom Med, 59, 269, 10.1097/00006842-199705000-00010 Moos, 1994 Erblich, 2005, Development and validation of a Breast Cancer Genetic Counselling Knowledge Questionnaire, Patient Educ Couns, 56, 182, 10.1016/j.pec.2004.02.007 Keller, 2002, Comprehensive genetic counselling for families at risk for HNPCC: impact on distress and perceptions, Genet Test, 6, 291, 10.1089/10906570260471822 Cella, 1993, The functional assessment of cancer therapy scale: development and validation of the general measure, J Clin Oncol, 11, 570, 10.1200/JCO.1993.11.3.570 Brady, 1997, Reliability and validity of the functional assessment of cancer therapy-breast quality of life instrument, J Clin Oncol, 15, 974, 10.1200/JCO.1997.15.3.974 Schwartz, 2004, Impact of BRCA1/BRCA2 counselling and testing on newly diagnosed breast cancer patients, J Clin Oncol, 22, 1823, 10.1200/JCO.2004.04.086 Schwartz, 2005, Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients, Cancer Epidemiol Biomarkers Prev, 14, 1003, 10.1158/1055-9965.EPI-03-0545 Dazord, 1995, Quality of life assessment in medicine: presentation of a new instrument (Subjective Quality of Life Profile (SQLP)) and first results, Eur Respir Rev, 5, 66 Freyer, 1999, Psychosocial impact of genetic testing in familial medullary-thyroid carcinoma: a multicentric pilot-evaluation, Ann Oncol, 10, 87, 10.1023/A:1008349318728 Wolf, 1978, Medical Interview Satisfaction Scale: development of a scale to measure patient perceptions of physician behaviour, J Behav Med, 1, 391, 10.1007/BF00846695 Holmes-Rovner, 1996, Patient satisfaction with healthcare decisions: the satisfaction with decision scale, Med Decis Making, 15, 58, 10.1177/0272989X9601600114 Pieterse, 2005, QUOTE-gene (ca): development of a counselee-centred instrument to measure needs and preferences in genetic counselling for hereditary cancer, Psychooncology, 14, 361, 10.1002/pon.853 Rosenberg, 1965 Ellison, 1991, Towards an integrative measure of health and well-being, J Psychol Theol, 19, 35, 10.1177/009164719101900104 Miller, 1987, Monitoring and blunting: validation of a questionnaire to assess styles of information seeking under threat, J Pers Soc Psychol, 52, 345, 10.1037/0022-3514.52.2.345 Barron, 1953, An ego-strength scale which predicts response to psychotherapy, J Consult Psychol, 17, 327, 10.1037/h0061962 Scheier, 1994, Distinguishing optimism from neuroticism (and Trait anxiety, self-mastery and self-esteem): a re-evaluation of the Life Orientation Test, J Pers Soc Psychol, 67, 1063, 10.1037/0022-3514.67.6.1063 National Institute for Health and Clinical Excellence, 2004 McAllister, 2006, Process and outcome in clinical genetics services: a new model developed from qualitative research, J Med Genet, 43, S62