Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening

• Published in: Health expectations : an international journal of public participation in health care and health policy Vol. 18; no. 1; pp. 69 - 80
• Main Authors: Ames, Alice G., Jaques, Alice, Ukoumunne, Obioha C., Archibald, Alison D., Duncan, Rony E., Emery, Jon, Metcalfe, Sylvia A.
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.02.2015; John Wiley and Sons Inc
• Subjects: Adolescent; Adult; Attitudes; Breast cancer; Carriers; Choice Behavior; Choices; Clinical assessment; Clinical trials; Colorectal cancer; Decision making; Delphi method; Delphi Technique; Discriminant analysis; Down syndrome; Down's syndrome; Evaluation; Factor analysis; Female; Fragile X syndrome; Fragile X Syndrome - psychology; Genetic counseling; Genetic screening; Genetic Testing; Genetics; Gynecology; Health Knowledge, Attitudes, Practice; Health technology assessment; Heterozygote; Humans; informed choice; Informed Consent; Intellectual disabilities; measurement scales; Medical research; Medical screening; Medicine; Middle Aged; Midwifery; MMIC (circuits); Obstetrics; Original; Original Research Papers; Ovarian cancer; Patient education; Pilot Projects; Population genetics; Pregnancy; Prenatal diagnosis; Prenatal testing; Primary care; Prostate cancer; Psychometrics; Questionnaires; Screening; Surveys and Questionnaires - standards; Systematic review; Uptake; Women; Womens health; Young Adult; New York; United States > US; Australia; evaluation; screening; informed choice; decision-making; measurement scales; fragile X syndrome
• ISSN: 1369-6513; 1369-7625
• DOI: 10.1111/hex.12009

Background Genetic carrier screening is increasingly possible for many conditions, but it is important to ensure decisions are informed. The multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to evaluate informed choice in prenatal screening for Down syndrome, measuring knowledge, attitudes and uptake. To apply the MMIC in other screening settings, the knowledge scale must be modified. Objective To develop and validate a modified MMIC knowledge scale for use with women undergoing carrier screening for fragile X syndrome (FXS). Setting and participants Responses to MMIC items were collected through questionnaires as part of a FXS carrier screening pilot study in a preconception setting in Melbourne, Australia. Design Ten knowledge scale items were developed using a modified Delphi technique. Cronbach's alpha and factor analysis were used to validate the new FXS knowledge scale. We summarized the knowledge, attitudes and informed choice status based on the modified MMIC. Results Two hundred and eighty‐five women were recruited, 241 eligible questionnaires were complete for analysis. The FXS knowledge scale items measured one salient construct and were internally consistent (alpha = 0.70). 71% (172/241) of participants were classified as having good knowledge, 70% (169/241) had positive attitudes and 27% (65/241) made an informed choice to accept or decline screening. Discussion and conclusions We present the development of a knowledge scale as part of a MMIC to evaluate informed choice in population carrier screening for FXS. This can be used as a template by other researchers to develop knowledge scales for other conditions for use in the MMIC.