Introduction
Expanded carrier screening (ECS) is a reproductive genetic test, which aims to identify asymptomatic carriers and assess their odds of having a serious genetic disease in their offspring before or during pregnancy. This test can screen for an extensive set of autosomal and X-linked recessive disorders simultaneously irrespective of ancestry, geographical origin, and family history.1, 2 The superiority of ECS over traditional carrier screening includes providing more information with a much wider array of reproductive risks in a more cost-effective way, and reduction of social discrimination.3-5 Consequently, ECS has mushroomed in the past decade, and many professional academic institutions have recommended offering ECS to all women or their partners who are already pregnant or intending to be pregnant4, 6-8.
As the potential target population of ECS, a better understanding of how the reproductive population view such a test and which factors influence their decision-making is of great importance before or during its implementation in healthcare institutions despite the endorsement and recommendation of professional institutions.9, 10Previous reports gauging patients’ interests in ECS are either in hypothetical ECS tests or in their actual uptake of ECS, which shows their attitudes are varied and can be influenced by numerous factors.11-15 However, the great majority of individuals in these studies are European or American, which have a relatively high socioeconomic status and high-quality medical services. Nowadays, ECS is already in an exploratory stage in China,16-18 which highlights the feasibility and potential use of ECS. A growing number of Chinese reproductive individuals will be confronted with the choice to accept or refuse such a test. Their attitudes, recognition, as well as the perceived benefits of this test, will likely determine its successful implementation. Up to date, there are no studies reporting attitudes and preconceptions toward ECS in Chinese reproductive population.
The present study was performed to assess the current attitudes and cognition towards ECS in Chinese reproductive population and to know their adoption and possible misunderstandings, which have principal reference value for designing and developing ECS. Besides, we also investigated possible factors that influenced their intention. To the best of our knowledge, this is the first report regarding attitudes and preconceptions towards ECS in Chinese reproductive population.