Development and validation of an instrument to measure the impact of genetic testing on self-concept in Lynch syndrome

• Published in: Clinical genetics 2011-11, Vol.80 (5), p.415-423
• Main Authors: Esplen, MJ, Stuckless, N, Gallinger, S, Aronson, M, Rothenmund, H, Semotiuk, K, Stokes, J, Way, C, Green, J, Butler, K, Petersen, HV, Wong, J
• Format: Article
• Language: English
• Subjects: adjustment; Adult; Aged; Aged, 80 and over; Anxiety; Anxiety - etiology; Biological and medical sciences; BRCA1 protein; Colorectal cancer; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - psychology; Factor analysis; Fear; Female; Fundamental and applied biological sciences. Psychology; Gastroenterology. Liver. Pancreas. Abdomen; General aspects. Genetic counseling; Genetic counselling; Genetic disorders; Genetic screening; Genetic Testing; Genetics of eukaryotes. Biological and molecular evolution; hereditary nonpolyposis colorectal cancer; Heterozygote; Humans; Impact analysis; Intestine; Inventories; Lynch syndrome (LS); Male; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Mutation; Psychological Tests; psychosocial; Quality of life; Reproducibility of Results; Self Concept; Stigma; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Surveys and Questionnaires; Tumors
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2011.01770.x

Esplen MJ, Stuckless N, Gallinger S, Aronson M, Rothenmund H, Semotiuk K, Stokes J, Way C, Green J, Butler K, Petersen HV, Wong J. Development and validation of an instrument to measure the impact of genetic testing on self‐concept in Lynch syndrome. A positive genetic test result may impact on a person's self‐concept and affect quality of life. The purpose of the study was to develop a self‐concept scale to measure such impact for individuals carrying mutations for a heritable colorectal cancer Lynch syndrome (LS). Two distinct phases were involved: Phase 1 generated specific colorectal self‐concept candidate scale items from interviews with eight LS carriers and five genetic counselors, which were added to a previously developed self‐concept scale for BRCA1/2 mutation carriers, Phase II had 115 LS carriers complete the candidate scale and a battery of validating measures. A 20‐item scale was developed with two dimensions identified through factor analysis: stigma/vulnerability and bowel symptom‐related anxiety. The scale showed excellent reliability (Cronbach's α = 0.93), good convergent validity by a high correlation with impact of event scale (r(102) = 0.55, p < 0.001) and Rosenberg self‐esteem scale (r(108) = −0.59, p < 0.001), and a low correlation with the Fear questionnaire (r(108) = 0.37, p < 0.001). The scale's performance was stable across participant characteristics. This new scale for measuring self‐concept has potential to be used as a clinical tool and as a measure for future studies. Section Editor:
Aad Tibben, email: [e-mail]