Interpretation
Since ECS is a new reproductive test for the Chinese population, a detailed assessment for their awareness and acceptance of this test is critical to ensure the optimization of the clinical implementation of ECS in China. Our study was performed to explore the Chinese reproductive-aged individuals’ interests, needs, wishes, and possible misconceptions of ECS. As far as we know, this study presents the first glimpse of such a research subject in China.
Our survey revealed an apparent overall positive attitude towards ECS that up to 93.1% of respondents desired ECS, even though most of them had never heard of ECS or had a negative family history of monogenic disease. Consistent with prior literatures, the most common reason in favor of ECS was that participants would want to avoid their future child from a severe hereditary disorder.20-23However, the level of willingness to take such a test in our study was much higher than those in the European and American countries (from one third to 76%).12, 20, 24, 25 This difference appears to be explained by the following aspects. Firstly, having a child with a birth defect place a heavy burden on the entire family in China because of insufficient health insurance and economic constraints. Thus, it is plausible that the top priority for most Chinese couples is having a healthy baby.26 Secondly, the attitudes towards eugenics and abortion vary widely in different sociopolitical environments. Eugenics has been gradually diluted even abolished since World War II, and debate on abortion has been a major topic in Western countries for involved violations of human rights.27In contrast, the Chinese government brought eugenics into legislation, and the Chinese population are more likely to terminate an affected baby.26, 28 Thirdly, the Chinese government has placed a high value on implementing integrated control strategies and prevention measures to reduce birth defects, such as the Healthy China 2030 plan, which has made greats efforts on health education, free pre-pregnancy medical examination, and pregnancy health care.29, 30
Furthermore, we found prior knowledge, and high perceived benefits for offspring were significantly associated with the increased likelihood of intention for ECS, which agree with previous reports on the importance of awareness and knowledge in decision-making for carrier screening.31-33 This finding is also theoretically based by Health Belief Model, which has confirmed that perceived benefits can influence individual’s intention, attitudes and eventual behavior.34 Taken together, the above findings suggest that propaganda work of ECS should be carried out as early as possible, ideally before marriage or pregnancy, to create a favorable social environment. On the other hand, attention should be paid to pondering educational content and strategies to get desired results.
Another significant potential factor was the cost, a common reason for decline of ECS. A previous study by Higgins and colleagues suggests that the uptake percent of ECS would increase from 3.3% to 17.5% if the cost was reduced from 350 to 99 US Dollars.35 Because of imbalanced economic development in different regions in China, the average disposable income per person in Eastern China in 2015 was 30,212 CNY, compared with 18,550 CNY in the Central region and 16,546 CNY in the Western region.36 This may be a reason why up to 46.4% of our participants in Eastern China would like to pay 1,000 CNY and more for ECS. In our study, if the test was priced between 500 to 999 CNY, up to 76.4% of our participants would accept it. However, China still has a significant number of people living in poverty, and the poverty line was only 2,300 CNY per person annually in 2015, despite the dramatic economic growth in the past decades.27Hence, the pricing of ECS in the future should consider this special population. Additionally, the Chinese government either at the central or local level should consider financing this screening project to ensure its success.37 Moreover, we found that participants with a bachelor’s and above degree or with the total household income equal to or more than 150,000 CNY were more likely to pay 1,000 CNY and greater for ECS. It is probably that participants with a higher education level seem to have a higher income than those with a lower education level.
Notably, there were some misconceptions regarding ECS among our respondents. Firstly, most participants confused ECS with Down’s syndrome screening. Surprisingly, very few of our participants could distinguish monogenic diseases from chromosome diseases. Next, most respondents also misinterpreted if they were a carrier. Only 33.97% of the participants in our study expressed clearly that they would not feel less healthy as a carrier, though being a carrier typically has no obvious symptoms. Such misconception has also been reported in previous studies on cystic fibrosis carrier screening.38, 39Another misconception is neglected residual risk, which was also highlighted in other literatures.4, 9, 40 Most participants misinterpret their negative screening results and considered that their future child will not be susceptible to genetic conditions in our survey. Also, when the cost was the same, the vast majority of those surveyed chose the bigger panel. This is understandable because they wanted to know as much as possible about their reproductive risks. However, panels comprising many rare diseases are not recommended for routine screening41, 42, because it is increasingly difficult to evaluate residual risk accurately and then will bring great trouble for genetic counseling after a positive screening result.43-45 In line with previous surveys on carrier screening,11, 23, 46 there is also a low perceived risk of being a carrier based on family history, which was the most frequently selected reason against ECS, even though most patients with recessive hereditary disorders always have a negative family history. The above misconceptions indicate that the educational video of ECS before the survey may not be truly understood. Our findings highlight the significance of providing accurate and balanced information and education to the general population. What’s more, sufficient pre- and post-test genetic counseling including fully informed consent and results interpretation, especially the interpretation of negative results are crucial and has also been emphasized by American and European recommendations.4, 7
We also assessed the preference for the disclosure form when offered to couples. A great majority of our participants would prefer couple-based disclosure-where a result is positive when both members are carriers of the same condition over their test results privately. This disagrees with that found by Stephanie et al, showing that the population in Dutch preferred receiving individual test results instead of a couple-based disclosure pattern12, but is consistent with Plantinga et al in the Netherlands.21 As ECS aims to identify at-risk couples, not simply to identify carriers, this couple-based form is more convenient for couples to decide together for reproductive decision-making. In this society with a high divorce rate, this couple-based form can prevent carriers from discrimination and reduce anxiety if only one tests positive while the partner tests negative, for they would receive an overall negative result.