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.