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.