Therefore, a “no mutation” result does not eliminate the risk to the patient of having a child affected with a genetic disorder. As was also shown in the study of Henneman et al. Sonic Genetics, in partnership with Fulgent Genetics in the US, provides the Beacon expanded carrier screen for more than 400 disorders. Depending on the results provided, referral for genetic counselling and discussion of reproductive options may be appropriate. We now used these outcomes to examine the effect of the educational video in comparison to text on these domains. (1995) reported that written and video materials were equally effective in conveying information about preconception carrier screening for CF. Participants in the current text group only agreed more often on the statement ‘the carrier test can avoid suffering for future parents’ (74.1% vs. 67.2%, p = .04) and that MPS III has a very bad life expectancy (82.0% vs. 75.0%, p = .021). Have you ever heard of a carrier test before this questionnaire? The educational text, video, and questionnaire were all in Dutch. We recommend that the patient or another adult check the labelling of request forms and sample tubes. Expanded reproductive carrier screening is a more comprehensive carrier screen designed for couples, prior to pregnancy. The information on this website is provided for your general information and is not a substitute for the specific advice of your treating doctor. The video was designed and produced in collaboration with an organization specialized in educational videos in the field of medicine (Artsen voor Kinderen; Doctors for Children). I have no family history of these conditions, should I still be tested? The Beacon expanded carrier sc… The video lasted 6:27 minutes (see https://youtu.be/V9FKDNF_‐tI, including English subtitles). This might include a combination of video and text, interactive web‐based learning, whether or not in combination with a brief contact with a trained counselor which might be done in person or by phone or video consultation. In the case of carrier testing of an unaffected child, national regulations require that the laboratory has evidence of pre-test counselling by a genetics professional and written consent. One million people in the US have, or are at risk for developing, a Fragile X-associated disorder, 1 in 40 to 50 individuals in the US are carriers for the SMA gene. This result also has potential medical implications for the individual being tested. However, as no baseline differences in the familiarity with carrier screening and hereditary diseases were detected, we assume equal prior genetic knowledge between the text group and the video group. ���@Z First, it was assessed whether sociodemographic characteristics, genetic knowledge, perceived severity of MPS III, perceived risk, and attitudes toward preconception ECS remained the same over time by comparing outcomes of respondents who received the text in 2016 and 2018 by using Mann–Whitney U tests and chi‐square tests. Online Version of Record before inclusion in an issue. endstream endobj 124 0 obj <. Please note that, with one exception (see below*), the Medicare rebates for CFTR carrier screening are only available for test requests from a medical specialist or consultant physician. Carriers have genetic changes within their DNA that are unlikely to cause any health problems for them, but increase their Individuals with SMA become progressively weaker with respiratory failure. There was a significant difference between respondents in the video group and text group regarding their agreement on most items of the domain ‘perceived personal consequences’ (Table 4). The majority of all respondents experienced MPS III as a severe disease. a sample collected specifically for that test rather than a sample that is used for multiple tests. The Medical Ethics Committee of the Amsterdam UMC, the Netherlands, stated that Medical Research Involving Human Subject Act (WMO) does not apply to this study as it concerns an anonymous questionnaire study, and therefore, formal ethical approval was not necessary. Online video may well be used as supportive tool to the pre‐test genetic counseling process to facilitate informed choice. Interestingly, studies investigating the attitudes toward preconception ECS in specific populations with experiential knowledge of a disorder included in screening panels, such as family members of cystic fibrosis (CF) or MPS III patients, reported higher percentages (up to 80%) in favor of ECS for that specific disorder (Bailey, Bishop, Raspa, & Skinner, 2012; Boardman, Hale, Gohel, & Young, 2019; Janssens et al., 2016) or for extended screening panels (Nijmeijer et al., 2020). As the aim of ECS is to provide carrier couples with options for autonomous reproductive choices, it is also important to determine whether individuals make an informed decision to opt for screening or not, that is, a decision free of coercion and consistent with a persons' norms and values (Marteau, Dormandy, & Michie, 2001). Yes, women considering pregnancy or who are currently pregnant could carry these common genetic conditions on to their unborn child. This page describes one such test called “reproductive carrier screening". Other family members may consider carrier screening. Genetic counselling is recommended. Further research may examine the effectiveness of different types and combinations of educational tools. The minority of respondents stated that they would participate themselves in ECS. Although 84% of the participants in the video group perceived MPS III as severe, less than half of them indicated that they probably or certainly would participate in ECS. d�0ni��? Your remaining risk of being a carrier is much less and will be provided on your report. A critical review of theory and evidence, Audiovisual information affects informed choice and experience of information in antenatal Down syndrome screening–a randomized controlled trial, Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening, The role of experiential knowledge within attitudes towards genetic carrier screening: A comparison of people with and without experience of spinal muscular atrophy, Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: A theory‐guided systematic review, A systematic analysis of online marketing materials used by providers of expanded carrier screening, Teaching about cystic fibrosis carrier screening by using written and video information. Recent studies showed that the intended uptake of universal ECS by the general population varies from approximately 30% in the Netherlands and Sweden (Ekstrand Ragnar, Tyden, Kihlbom, & Larsson, 2016; Nijmeijer et al., 2019; Plantinga et al., 2016) to as high as 68% in Western Australia (Ong et al., 2018). Carriers of recessive genetic conditions only have one gene fault.