Purpose

In order to enhance the impact of our project and gain broader recognition and support, we have designed a comprehensive questionnaire survey aimed at gathering public understanding of EB and other rare diseases, as well as attitudes toward prenatal testing. This feedback will be crucial in optimizing our working methods, ensuring that the project remains aligned with social needs and expectations, and ultimately promoting more effective and widely supported solutions.

Figure 2 The cover of our questionnaire

Design of the Survey

We conducted this survey targeting the general public across all age groups with the aim of understanding their level of knowledge about EB rare diseases and their attitudes toward prenatal testing. The survey was divided into three dimensions: “knowledge,” “attitude,” and “behavior,” with the objective of understanding the public's level of awareness of EB rare diseases, their attitudes toward prenatal testing, their reactions when faced with high-risk prenatal testing, and their attitudes toward new technologies for detecting rare diseases. The following are some of the survey results, which indicate that the public lacks sufficient knowledge about epidermolysis bullosa. In terms of attitude, the results reflect that the public cares about prenatal testing and patients with rare diseases.

Key Findings from the survey

A total of 279 valid questionnaires were collected in this survey, with respondents concentrated across various age groups, including those under 18, 19–25, 26–35, 36–45, 46–55, and 56 and above. The majority of respondents were from mainland China. The survey results indicate that the public lacks awareness of epidermolysis bullosa, reflecting concerns about prenatal testing and support for patients with rare diseases. In the future, enhancing public awareness of rare diseases, strengthening related education and outreach, will help improve patients' quality of life and social support.

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The survey respondents were predominantly young females and students, with most under 18 years old. A majority had at least a high school education, indicating a solid cognitive foundation for understanding complex topics like rare diseases and prenatal testing. Their monthly income was generally low, consistent with their status as students or recent entrants to the workforce. The survey was primarily conducted in mainland China, providing regional representativeness and context for analyzing attitudes toward rare diseases like epidermolysis bullosa (EB).

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Public knowledge about rare diseases, including EB, is limited and often superficial. While most respondents had heard of rare diseases, only about one-third were familiar with EB specifically. However, the term "Butterfly Baby," a nickname for EB patients, was more widely recognized, suggesting that evocative terminology can enhance public awareness. Encouragingly, most respondents correctly identified EB as a genetic condition, indicating that basic medical knowledge is penetrating the public sphere. Improved science communication could further deepen understanding and support policy and screening initiatives for rare diseases.

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Good news is, people are on the right track when it comes to what causes EB - most know it's genetic. So at least the basics of medical knowledge are getting through. Bottom line. If we step up the science communication and make medical info more accessible, it could really help people understand rare diseases better, especially EB. That'd make it easier to get policies and early screening techniques out there.

Figure 7 What do you think about the importance of prenatal genetic disease testing for families and society? （1 is the least important, 5 is the most important)

In this survey, we focused on the respondents' awareness level, willingness to accept prenatal testing, and the concerns behind it. We also explored the public's attitude towards new testing technologies. First off, most respondents highly recognized the importance of prenatal testing. Data from Figure 7 showed that 77.11% of the participants thought prenatal genetic disorder testing was “very important,” with an average score of 4.67. This shows that the public generally believes prenatal testing is of great significance to families and society.

Figure 8 Amniocentesis has a miscarriage rate of about 0.2% to 0.5%, how far do you accept amniocentesis？(1 is the least acceptable, 5 is the most acceptable)

Regarding the acceptance of prenatal testing methods, Figure 8 showed that the average acceptance score for amniocentesis among respondents was 3.29, indicating a moderately high-level attitude. Among them, 53.41% of the respondents said they could accept it, but 26.51% said they were less likely to accept it. This reflects that some people are still cautious about the testing risks.

Figure 9 What do you think should be emphasized more in prenatal testing

Taking a closer look at the public's concerns, in the multiple-choice results of Figure 9, “safety” and “accuracy” were considered the two most important factors in prenatal testing. This shows that what people care about most is the risks to the baby and mom, plus how reliable the test results are. On the flip side, only 25.3% of folks picked "cost," which means the price tag isn’t really a big deal for most.

Figure 10 Would you like to try new prenatal testing technologies based on synthetic biology (e.g, test kits or biosensors)

The public has an overall positive attitude towards new prenatal testing technologies, like test kits or biosensors based on synthetic biology principles. Results from Figure 10 showed that as many as 81.53% of the respondents said they were willing to try these new technologies, and only 18.47% said they weren't. The latter group might be due to a lack of knowledge about the new technologies or concerns about safety. So, it's really important to enhance public awareness and build trust in these new technologies.

Figure 11 If test results show that the fetus carries the EB gene mutation, what is the action you might take?

Moreover, Figure 11 reflected the public's response tendencies when facing test results: 63.86% of the respondents said they'd choose to terminate the pregnancy if the fetus carried the EB gene mutation, and another 18.07% preferred to continue the pregnancy and make early care preparations. This result suggests that genetic test results have a major impact on family decisions, and prenatal counselling and ethical support should also be strengthened.

Conclusion

All in all, the survey shows that the public generally has a positive attitude towards prenatal testing. Safety and accuracy are their main concerns. They're showing a positive and open-minded trend towards new technologies, but they still need more guidance and support when making specific decisions. It should be noted that concentrating on younger respondents might restrict the survey's broader applicability. Therefore, future surveys ought to incorporate a diverse range of ages, income levels, and regions. Based on the findings, we have committed to increasing our efforts in scientific popularization, aiming to enable more people to comprehend the significance of rare diseases and prenatal testing. For more information, please refer to our EDU section .

Purpose

Our second survey explored women’s attitudes toward prenatal testing across different reproductive stages, with a focus on rare disease screening for Epidermolysis Bullosa (EB). The study aimed to assess:

• Awareness of EB and genetic screening.
• Acceptance of professional EB testing and at-home test kits.
• Concerns and barriers during different stages of pregnancy.
• Implications for product development and targeted education strategies.

Three groups of women were included:

• Married, childless women planning pregnancy (n=10)
• Currently pregnant women (n=5)
• Mothers (n=30)

Survey Design

The questionnaire included both core and stage-specific questions:

• Core questions (Q1–Q9): demographics, prenatal testing attitudes, EB awareness, rare disease screening experience.
• Stage-specific questions (Q10–Q21): pregnancy experiences, postpartum reflections, and screening behaviors.
• Question formats: single/multiple-choice, Likert scales for price sensitivity and acceptance.

Key Findings

The findings revealed clear differences across groups.

Among married women, half expressed strong enthusiasm for prenatal testing, while one-fifth reported anxiety, and 80.00% said they were influenced by peers’ experiences.

Pregnant women showed the most caution: 60.00% worried about risks to the fetus and 40.00% distrusted at-home testing. Postpartum women, looking back, highlighted their own anxieties—66.67% reported high stress during pregnancy and 43.33% admitted they had skipped rare disease screening altogether.

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Awareness and acceptance of EB testing varied significantly. Married women had the highest awareness (60% had heard of EB). Acceptance followed a different pattern: married women showed strong willingness to use professional testing (70% “very willing”) and considerable interest in at-home strips (60% “very necessary”).

Figure 14 Have you heard of "butterfly babies" or "epidermolysis bullosa(EB)?"

Figure 15 If there were a prenatal test that could quickly and non-invasively detect whether a fetus has a rare disease such as EB in the early stages of pregnancy, would you choose to have it done?

Figure 16 Do you think prenatal screening for rare diseases is necessary?

The barriers to adoption were also stage-specific. Pregnant women focused mainly on fetal safety concerns, postpartum women cited cost and lack of awareness, and across all groups there was evidence of screening avoidance. These insights suggest that EB education is most effective before pregnancy, when women are receptive and planning for the future. During pregnancy, reassurance through medical validation and certification is critical to building trust. Postpartum women represent a strong market for professional testing, reinforcing the value of pricing and accessibility at that stage.

This survey reveals strong but stage-specific demand for EB screening. Pre-pregnancy education is the most effective entry point, while safety validation is crucial during pregnancy, and postpartum women show the highest willingness to accept professional testing. The small sample size and design flaws limit generalizability, but the findings underline one core insight: building trust and tailoring strategies to each reproductive stage are essential for advancing EB screening adoption.

We conducted an online interview with Prof. Xiao, Professor at the Department of Pharmacology, China Pharmaceutical University. His expertise covers the molecular mechanisms of gene editing tools, drug target discovery, and the structural basis of drug–target interactions. During the discussion, Prof. Xiao responded to our questions one by one, highly affirmed the feasibility and promotion potential of the project, and provided valuable suggestions on the accuracy and sensitivity of the technology. Throughout the project, Prof. Xiao provided our team with a great deal of professional guidance on the technical and application aspects, and these suggestions played a crucial role in clarifying the research direction.

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Insights and takeaways

1. Screening Issues

Current methods are invasive, expensive, and not widely accepted, so we need superior technologies that satisfy our demands.

2. Our technology's Benefits

CRISPR enables fast, accurate detection for prenatal screening.

3. Non-invasive Future

Non-invasive tests (e.g., blood DNA) are more accurate and accepted.

4. Adoption Challenges

Accuracy is a challenge, especially in smaller hospitals.

5. Patient Preferences

Families want non-invasive, accurate tests.

6. Commercial Barriers

Hospitals may hesitate to adopt new technologies due to profit concerns.

Professor Xiao's project enabled us to evaluate both the scientific foundations of the project and the real-life importance of such an innovation. His encouragement indicated that the EB-causing CRISPR-based screening method holds much promise for clinics as a prenatal diagnostic. Taking advantage of his recommendations for increasing sensitivity and precision considerably, we managed to develop a precise experimental design. With his mentorship, we got not only greater clarity but also assurance on the feasibility of our solution, giving us momentum to proceed to the next phase of bringing PrenatalEB-Detect closer to actual clinical and societal impact.

We also interviewed Prof. Shan Jiang, M.D., Associate Chief Physician at Renmin Hospital of Wuhan University, where he serves as Deputy Director of the Department of Dermatology and Venereology as well as the Department of Medical Aesthetics. Prof. Jiang is a leading expert in genetic and autoimmune skin diseases, including Epidermolysis Bullosa, with extensive clinical and research experience. In our conversation, he discussed the key clinical challenges of EB—from current diagnostic limitations to therapeutic barriers—and provided valuable perspectives on how our project could contribute from a medical standpoint. His feedback helped us better situate our research within real clinical contexts and patient needs.

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Insights and and takeways

Current diagnosis is invasive and costly
Today’s EB diagnosis often involves painful and expensive procedures. This not only causes distress for families but also delays early treatment.

Precision testing empowers families
Accurate genetic testing does more than confirm a diagnosis—it gives families clear information so they can make informed choices about pregnancy and treatment. Precision here means both technical accuracy and compassion.

Innovation must be patient-centered
New technologies only matter if patients understand and accept them. Non-invasive options like cfDNA screening are effective, but what makes them valuable is that they feel safe, simple, and humane.

Barriers are both technical and institutional
Adopting new diagnostics is not just about having the right machines—it also requires training, guidelines, and a shift in institutional mindset. Smaller hospitals, in particular, need support and education to bridge these gaps.

Trust is the foundation of adoption
Families want more than “non-invasive.” They need to trust that the test is reliable and transparent. Because prenatal screening is emotionally charged, trust-building through clear communication is essential.

Bridging technology with reality
Hospitals face real-world constraints like budgets and workflows. For new technologies to succeed, they must demonstrate clear clinical value and integrate smoothly into existing systems.

Conclusion

The interview with Professor Jiang was the aspect that contributed a lot to the clinical credibility and practicality of our project. His experience in EB diagnosis and treatment helped us appreciate the particularities and difficulties that patients cope with, the weaknesses of current methods of screening, and the importance of non-insertive early diagnosis. Such a meeting was crucial in making our project more appropriate for medical requirements and practical implementation. It is worth noting that there is still insufficient popular science education about rare diseases, and it is necessary to enhance the public's awareness of the severity of the diseases.

We conducted in-depth interviews with five women at different stages of pregnancy and postpartum, aiming to understand their experiences with prenatal care, attitudes toward rare genetic disease screening (especially EB), and openness to innovative non-invasive testing solutions. Core questions focused on:

1. Routine prenatal check-up experience and awareness of rare disease testing.
2. Emotional and psychological responses to different screening methods.
3. Acceptance of invasive vs. non-invasive testing.
4. Cost sensitivity and usability considerations.
5. Feedback on our proposed EB screening platforms (home-based strips and hospital-based fluorescence detection).

These interviews provide user-centric insights to guide both technical development and commercial strategy for PrenatalEB-Detect.

Flora is a new mother from Shanghai who gave birth to her first child six months ago. As an everyday woman without a medical background, she has experienced the full journey of pregnancy, including routine checkups, emotional shifts, and postpartum recovery. In the interview, Flora shared her honest thoughts on prenatal care, her limited awareness of rare genetic diseases, and her openness to new, non-invasive testing methods. Her perspective reflects the real concerns and needs of the general public, offering meaningful user insight for improving our project.

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Insights and Takeaways

Doing Checkups Doesn’t Mean Knowing Everything

While most expecting mothers complete standard prenatal checkups, they often lack detailed knowledge about rare genetic diseases like EB. This reveals a gap between routine screening and meaningful understanding.

Trust is Primary

This new testing may need to not only be correct but also simple to understand. Well-educated users may still hold back if the test seems foreign or risky to them, even though the test is accurate.

Non-invasive is the Ideal

The choice of non-invasive testing is often becoming a first choice for modern parents. Amniocentesis as an invasive procedure is usually regarded as a last resort rather than the starting point of search.

Reasoning Under Emotion

The bearer of child makes a choice basing not only on scientific data but also on the whole range of emotions: comfort, fear, and peace of mind. A test that will only bring on stress may be avoided, even if it is of high clinical significance.

Obstetrician's recommendation will be a deciding factor

Patients are most likely to embrace new testing approaches when firsthand suggested by their healthcare providers whom they can trust. The fact remains that the clinical support is more influential than marketing.

Education build self-confidence

Focused provision of information about rare diseases and genetics should be given at the early stage so that people can make well-informed decisions. Awareness campaigns could improve the mindset of the society towards preventive and informed measures.

This interview has provided us a foundation of knowledge on the way pregnant women react to prenatal screening and rare disease testing. From one side, the notion of standard prenatal checkups has convinced many. But on the other side, very few are aware of EB and its related conditions. The interviewee emphasized the desirability of the test that is both non-invasive and accurate, as well as emotionally relieving, and showed keen interest in our service. With these revelations, we were motivated to develop PrenatalEB-Detect, which is not only guesswork but also based on science, trust, simplicity, and comfort for all users.

We conducted an interview with a pregnant woman in her 32nd week of pregnancy (her second child), primarily discussing topics such as prenatal screening, fetal rare genetic disease testing, amniocentesis, non-invasive DNA screening, and her perspectives on our ongoing project. The interviewee shared her pregnancy experiences, prenatal check-up history, and views on new technologies (such as non-invasive and convenient testing tools), with particular emphasis on the accuracy, safety, and cost-effectiveness of the tests. The interview revealed the urgent need for early screening tools for genetic diseases among pregnant women and provided valuable user-centric feedback for our team's project design.

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Prenatal Screening Items

Current technologies, such as amniocentesis, carry certain risks due to their invasive nature, including the potential for miscarriage.

Prenatal Check-up Experience

Seeing test results may cause anxiety, but reassurance comes after the doctor's explanation. Prenatal check-ups begin at three months of pregnancy, starting with 1-2 visits per month and gradually increasing in frequency. Follow-up visits may be more frequent for pregnant women with abnormal indicators.

Sharing Experiences with Other Pregnant Women

Learning about certain risks leads to greater caution, and emotional support is provided to more anxious pregnant women.

Fetal Health Screening Items

Traditional screening (e.g., Down syndrome screening) is low-cost but less accurate, while non-invasive DNA testing is more expensive but more precise. Amniocentesis is costly and carries risks, requiring careful consideration. If abnormalities are detected, the interviewee would not choose to continue the pregnancy.

Views on Our Project

The proposed solution is affordable, risk-free, and highly accurate. If widely adopted, it could significantly benefit pregnant women in remote areas.

This interview validated the clinical value and societal significance of our project from an end-user perspective. The interviewee's feedback aligns with expert recommendations, further strengthening our commitment to developing an EB screening technology that is "highly accurate, low-risk, and highly accessible." Moving forward, our team will continue to refine the technical solutions, striving to provide safer and more reliable prenatal screening options for pregnant women and advance the prevention and control of rare diseases.

Our team conducted an in-depth interview with Ms. Wu, a prospective mother actively researching prenatal screening options and planning future screenings. She shared candid perspectives on prenatal testing, with particular emphasis on the safety and medical credibility of our detection platform. This interview demonstrated that our portable, safe, and accurate prenatal EB screening strip could effectively alleviate pregnant women's anxieties toward traditional invasive procedures (e.g. amniocentesis). It also highlighted potential users' concerns regarding the clinical validation of the product. Nevertheless, Ms. Wu’s insights provided critical user-centered guidance for our subsequent project development.

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Key Takeaways:

Proactive acceptance of EB prenatal screening: When introduced to Epidermolysis Bullosa (EB), the interviewee immediately stated: "If conditions allow to prevent it, I would definitely pursue early screening" and explicitly accepted high-risk procedures (e.g. amniocentesis). Although she frequently referenced the need to consult family and physicians while expressing concerns about procedural risks, this response validates both the clinical urgency of EB screening and users' heightened receptiveness to less invasive alternatives

Inherent psychological benefits of non-invasive testing: When discussing miscarriage risks and psychological burdens associated with amniocentesis ("risk of miscarriage", "requires highly skilled operators"), Ms. Wu—while accepting the necessity of EB screening—emphasized strict adherence to "financial and psychological tolerance limits" and medical consultation to fully understand risks. Crucially, she highlighted collaborative decision-making with family and physicians. Our strip-based technology (utilizing at-home blood sampling or hospital-based non-invasive fluorescence detection) was designed specifically to circumvent these concerns, directly addressing users' core demands for controllable risk exposure and physiologically/psychologically sustainable screening.

Cost sensitivity and need for portability: The interviewee explicitly noted that "average families might be unable to afford rare disease treatments" while affirming "health remains paramount though cost is a consideration". She particularly endorsed portable medical devices (drawing parallels to her diabetic father's glucose monitor). Our solution—low-cost, home-operable strips—directly addresses these pain points, offering optimal accessibility for average households, particularly in resource-limited regions.

Balancing credibility and accuracy needs: The interviewee emphasized concerns about medical credibility ("product influence and public acceptance"), questioning the authority of strip-based screening. Our dual-system approach directly addresses this: While the hospital-based fluorescence detection platform shares the core detection principle with the rapid strip test, it delivers higher accuracy through equipment-supported analysis in clinical settings. By enabling healthcare professionals to conduct tests within medical institutions, this solution effectively mitigates users' authority concerns while maintaining technological consistency.

Ms. Wu's feedback unequivocally demonstrates that risk avoidance and health security constitute primary motivators for prenatal screening adoption. She endorsed both our home-use strip test and fluorescence detection platform, providing actionable insights—particularly recognizing their potential to eliminate miscarriage risks and bridge screening gaps in remote regions. This validation reinforces our commitment to the tiered "non-invasive preliminary screening → clinical confirmation" pathway for EB diagnostics. Moving forward, we will optimize test strip accuracy and accessibility to deliver safe, equitable prenatal screening—ultimately combatting rare diseases' lifelong burdens at their source.

We engaged in a dynamic virtual discussion with Ms. Tang, a late-term pregnancy patient at 39 gestational weeks nearing delivery. Our dialogue explored prenatal testing frameworks and third-trimester psychological dynamics, revealing how physicians recommend stage-specific screenings (e.g. OGTT, 4D ultrasound scans) throughout pregnancy. Her perspectives on these protocols directly informed user experience optimization opportunities for both our fluorescence detection platform and strip test. Through this deep-dive interview, we confirmed that ensuring maternal-fetal health safety is the paramount motivator for screening adoption. These insights not only validate the urgent clinical need for EB screening but solidify our commitment to developing next-generation EB diagnostics prioritizing safety, precision, and universal accessibility.

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Key Takeaways：

Strong preference for non-/minimally-invasive screening

When discussing conventional prenatal procedures like 4D ultrasound scans, Ms. Tang revealed significant distress caused by repeated imaging attempts (due to suboptimal fetal positioning requiring three trials with walking/stair-climbing adjustments) and physiological discomfort from consuming high-concentration glucose solutions for OGTT tests. This reflects pregnant women's unmet need for enhanced procedural comfort despite accepting routine screenings. In the context of EB diagnostics, our solutions—the at-home blood-based strip test and clinic-based fluorescence detection—effectively circumvent the physical discomfort, miscarriage risks, and psychological burden inherent in invasive methods (e.g. amniocentesis, OGTT). This directly addresses their core imperatives: risk avoidance and health security.

Strong consensus on rare disease screening necessity

Ms. Tang unequivocally stated she would opt for amniocentesis if high fetal risk were indicated (prior to learning about our technology). Crucially, when confronted with a hypothetical EB diagnosis, she explicitly chose pregnancy termination—citing fears of "unmanageable financial/emotional burdens beyond family capacity" and inability to provide adequate care, acknowledging rare diseases' devastating societal impact. This attitudinal evidence proves urgent clinical demand for severe disorder screening like EB. Her stance demonstrates target users' deep comprehension of screening significance and willingness for decisive action (including invasive procedures or termination). Our safer solution—tiered screening (home strip → fluorescence confirmation)—will dramatically increase adoption, empowering families to make early informed choices that alleviate burdens at their origin.

Receptive attitude toward innovative screening

Upon understanding our strip and fluorescence platform technologies, Ms. Tang unequivocally stated: "I am willing to adopt this", explaining that "multi-dimensional detection capabilities could comprehensively exclude fetal health risks". She further expressed hope that the technology "would benefit countless families" and "deliver healthy newborns". This demonstrates potential users' openness to novel solutions when they effectively address core concerns—safety and accuracy. Her endorsement validates our development direction, confirming optimistic adoption prospects for products fulfilling these fundamental needs.

Accuracy and safety as paramount considerations

When asked about screening priorities, Ms. Tang unequivocally emphasized: "Foremost concerns are absolutely accuracy and safety", noting that "public insurance coverage largely mitigates cost concerns in our healthcare system". She articulated that "safety and accuracy are every expectant mother's fundamental priorities for fetal health". This directly aligns with our core mission: developing non-/minimally-invasive yet precision-graded EB screening tools. Her feedback powerfully validates our technological approach—confirming that safety and accuracy constitute the cornerstone of user acceptance.

Feedback from Ms. Tang powerfully validates our core design philosophy centered on the distinct advantages of safety, accuracy, and accessibility. The home-based test strip, with its non-invasive, convenient, and low-cost nature, can effectively alleviate pregnant women's fear of traditional invasive testing, enabling widespread initial screening, particularly benefiting resource-limited areas; concurrently, the hospital-based fluorescence platform, leveraging the professional environment and higher precision, provides authoritative verification, addressing user concerns about the reliability of home testing and offering a solid foundation for clinical decision-making. In the future, we will continue to optimize the sensitivity and specificity of the test strip and enhance the automation and operability of the fluorescence platform, ensuring that every pregnant woman, regardless of location, has equitable access to safe and effective EB prenatal screening. This interview study provided crucial user perspective validation for the project, guiding us towards more responsible and impactful synthetic biology solutions.

Across all interviews, women prioritized non-invasive, safe, and accurate prenatal tests, with trust, clarity, and emotional comfort strongly influencing their decisions. Cost and usability also shaped adoption, particularly in resource-limited settings. For PrenatalEB-Detect, this highlights the need for a tiered screening approach (home-based strip followed by hospital fluorescence confirmation), integrated educational support, and a focus on non-invasiveness, accuracy, and accessibility in both product design and communication. These insights are reflected in our Education and Entrepreneurship sections.

During the early stages of our project, we discovered Wang Zichao, a popular social media influencer, and watched some of his videos on epidermolysis bullosa (EB). We proactively reached out to him, introduced our project, and successfully established contact. He himself is a “butterfly baby patient” with EB, a rare disease, and also an advocate for raising awareness about such rare conditions. Since 2023, he has traveled across the country, filming documentary videos about the families of “butterfly baby” patients. He has also shared these videos on his social media platforms, helping more people understand and pay attention to this rare disease. Currently, he has hundreds of thousands of followers. The interview focused on discussions about EB disease detection, treatment, and patient care, as well as how to enhance public awareness of this rare disease through science popularization efforts. Participants included EB patient representatives and a high school student research team interested in the disease, who exchanged views on the current state of the disease and social support. Mr. Wang also provided us with support and encouragement throughout the project, playing a crucial role in science popularization efforts.

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Insights and Takeaways

Patient experiences and care

Currently, there is no treatment for EB patients, who can only rely on family care to carefully protect their skin. Mr. Wang shared his daily care experience as an EB patient, including avoiding falls, bumps, and friction, using disinfectants and dressings to cover wounds. However, there are currently no effective treatments for EB patients in China, and care products are expensive and not covered by medical insurance, placing a heavy financial burden on affected families.

Current Status of Prenatal Checkups

Currently, pregnant women without a family history of EB typically cannot detect fetal abnormalities through routine prenatal checkups. Families with a history of the condition often rely on genetic testing, amniocentesis, or third-generation in vitro fertilization (IVF) to ensure fetal health. Professor Wang also pointed out that, for current prenatal examinations, these tests primarily focus on external physical characteristics, such as limb abnormalities. However, for rare diseases, genetic testing is extremely costly, and with the wide variety of rare diseases, comprehensive testing is not feasible.

Publicity and social awareness (publicity focus)

We can eliminate the public's misunderstanding of EB through publicity and let them know that EB is not contagious. Furthermore, since current prenatal screening technologies cannot detect rare diseases in fetuses, it cannot be concluded that the pregnant woman was negligent. Therefore, we can explain the reasons clearly in order to change the public's perception of this matter. Mr. Wang also suggested that if we wish to donate daily necessities to butterfly baby patients, suitable items include Meipikang foam dressings; Plante liquid dressings; and Meisha tubular bandages.

Challenges in EB Treatment and Care

Currently, EB also faces some challenges. There are no effective medications available on the market that can reduce wounds or strengthen the skin. Dressings such as disinfectant solutions must be imported, are very expensive, and are not covered by medical insurance, resulting in significant financial pressure for affected families. Furthermore, while some foundations make donations annually, these do not cover all affected families. Only a few dozen families receive support each year, with each family receiving just a few thousand dollars, which falls short of the required treatment costs.

Conclusion

The interview with Mr. Wang Zichao offered critical insights into both the lived experiences of EB patients and the broader social context surrounding rare disease awareness. Hearing firsthand about the daily care challenges, financial burdens, and lack of effective treatments highlighted the urgent need for accessible support and practical solutions. Importantly, discussions around prenatal screening revealed significant gaps: routine checkups often fail to detect rare diseases, and advanced genetic tests remain prohibitively expensive, leaving families with limited options. Beyond the clinical perspective, Mr. Wang emphasized the role of public education in dispelling misconceptions, reducing stigma, and fostering empathy toward affected families. His guidance also illuminated concrete ways our project could support patients, from educational outreach to material donations. Overall, this interview reinforced the importance of integrating patient-centered design, scientific communication, and social impact considerations into PrenatalEB-Detect. It not only validated our project’s relevance but also helped shape actionable strategies for improving both awareness and care for EB patients.

During the second phase of our project, we interviewed Dr. Li, a senior researcher at the Chinese Academy of Sciences with expertise in synthetic biology and CRISPR-based diagnostics. The goal was to understand how our CRISPR-Cas12a detection platform could be translated from laboratory research to a practical, affordable, and non-invasive screening tool for EB. We discussed challenges in developing human diagnostic products, including maintaining product quality, navigating regulatory approvals, and addressing ethical and data privacy concerns. Dr. Li emphasized that the development of diagnostic tools must not only undergo scientific validation but also be feasible and practical in clinical or public health scenarios. This discussion has significantly filled the gap in our understanding of advancing biotechnological products from the validation stage to practical application. Additionally, the business strategy, regulatory mechanism (including social responsibility), became clear to us. We clearly felt that, through this engagement, our mission aligned in both the scientific optimization of the detection platform and the establishment of ethical and commercial frameworks for its practical application.

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Key takeways:

Bundle rare diseases for impact

Commercializing EB alone is possible but limited. Including EB in a multiplex panel with other rare genetic diseases makes the product more viable in the market and more valuable for public health.

Align with regulators early

Startups often underestimate regulatory hurdles. Dr. Li stressed the importance of using standardized samples early and engaging regulators proactively to smooth the approval process.

Prioritize stability over novelty

Success in diagnostics depends on robustness, affordability, and mass production, especially in low-resource settings. Technical innovation is important, but manufacturability and consistency matter more.

Adopt a two-tier deployment model

Use low-cost CRISPR strips in rural areas for initial screening, followed by fluorescence confirmation in hospitals. This approach ensures accessibility while maintaining accuracy, and supports partnerships with healthcare providers.

Bridge lab to real-world practice

Diagnostics must work not only in the lab but also in clinical workflows, procurement systems, and public health programs. This reinforced our plan to engage hospitals, regulators, and patient groups to ensure real-world relevance.

Dr. Li’s contribution turned out to be a key factor in our project refinement—giving it a prominent prototype status and making it a true deployable solution. The transition of such themes as scalability, compliance, and end-user practicality into our project development roadmap was undoubtedly a major breakthrough for us, as it confirmed the validity of the tiered approach we used—community-based screening to clinical confirmation. In the future, we will channel the lessons we learned to maintain a balance between our technical design and translational strategy—making sure that our platform detects EB early, in a way that is credible, accessible, and impactful to the wider healthcare landscape. For more details, please refer to our entrepreneurship.

We consulted Dr. Guangquan Chen from Tongji University, who helped us clarify the clinical value and feasibility of EB prenatal screening based on his deep experience in genetic diagnostics. His feedback shaped our product roadmap—from early-stage simulation and rare disease panel expansion to practical deployment models that balance accessibility, accuracy, and clinical credibility. These expert insights ensured our project was grounded in both scientific rigor and real-world needs.

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Main Points and Takeaways

Technical limitations and improvement needs

Our current single-target design can only detect one common EB mutation at a time. This limitation reminded us that a clinically valuable tool must eventually expand to cover multiple mutations or bundle several rare diseases together. It pushed us to rethink the scope of our platform and set a clear direction for future iterations.

Market focus and policy implications

Experts highlighted that advanced prenatal testing resources are concentrated in first- and second-tier cities, where demand and infrastructure are strongest. This suggests that our initial commercialization should prioritize these regions. At the same time, national policy trends—such as expanding insurance coverage and promoting systematic prevention of hereditary diseases—signal that rare disease screening will gradually become more accessible, opening pathways for long-term diffusion beyond major urban centers.

Social engagement and patient collaboration

We learned that patient groups and public welfare organizations are essential partners for awareness-building and trust. Although activities for EB families have decreased recently, seasonal support group events remain important opportunities for collaboration. Actively engaging in these spaces not only helps us understand real patient needs but also ensures our solution is embedded in broader social and ethical contexts.

Conclusion

The conversation with Dr. Chen sharpened our understanding of both the opportunities and the challenges in bringing EB screening to reality. His insights pushed us to recognize the technical gaps in our current assay, align our market entry with realistic urban–rural disparities, and prioritize long-term collaboration with patient communities. More than a technical roadmap, this feedback gave us a reflective lens: our product will only succeed if it grows at the intersection of scientific progress, policy readiness, and patient-centered engagement.

Beijing Genomics Institute (BGI) is one of China’s leading research centers in genomics. It has participated in major international projects like the Human Genome Project, while also leading important national efforts such as rice genome sequencing. Beyond basic research, BGI has extensive clinical experience, especially in prenatal screening and rare disease detection, using advanced sequencing technologies to identify chromosomal and genetic disorders. In this interview, we focus on BGI’s core technologies in prenatal diagnostics, their clinical practices, and recent progress in detecting rare diseases such as Epidermolysis Bullosa (EB).

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Main Points and Takeaways

Opportunities

1. High Unmet Need in the Market

Rare disease prenatal screening is underserved, especially in tier-2/3 cities and rural areas.

Simple, accessible screening tools can lower clinical entry barriers.

2. Low-Cost, Single-Gene Targeted Design

Our test offers high efficiency and affordability for common pathogenic variants.

Ideal for first-round screening, with potential to integrate into mass health checks.

3. Flexible Business Model with Insurance Integration

A supplementary model (not replacing NGS) allows for insurance support post-screening.

Potential to build a commercial-medical ecosystem: test → detect → reimburse → refer.

4. Policy and Public Awareness Tailwinds

Increasing public and government attention to genetic diseases may accelerate adoption.

Pilot programs and partnerships with local clinics offer scalable channels.

Challenges

1. Limited Gene Coverage & Missed Mutations

Single-target test means lower comprehensiveness than full NGS.

Could lead to false sense of security if not explained clearly.

2. Clinical Acceptance and Trust

Doctors may be skeptical of non-NGS tests without sufficient validation or journal-level publication.

Need strong data support + endorsement from KOLs.

3. Regulatory Uncertainty

Genetic screening tools are subject to strict medical regulations, especially in prenatal settings.

Reimbursement and approval may differ between regions.

4. User Education and Behavior Gap

Need to educate consumers and clinics on when and why to use your test.

Without good explanation, patients may skip follow-up or misunderstand results.

What we learned is that our technology should be positioned not as a replacement for NGS, but as an entry-level, scalable screening tool that can extend access to under-served regions while channeling patients toward advanced diagnostics when needed. To support this, we must invest in data validation, physician engagement, and patient education—ensuring trust and proper follow-up.

Looking ahead, the conversation also inspired us to think more broadly about long-term potential: expanding into additional rare disease panels, leveraging social media for public awareness, and collaborating with hospitals to provide genetic counseling. These steps will help us balance scientific rigor with real-world adoption, making our solution both clinically credible and socially impactful.