Professor Ding Jie, National Committee Member and Former Vice President of Peking University First Hospital, Advocates for Rare Disease Policy Reforms and Precision Medicine Advancement

Source: GeneInsight PPT

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CPPCC National Committee Member, Professor of Pediatrics

Chairman of the Rare Disease Branch, Beijing Medical Association

Former Vice President of Peking University First Hospital

GeneHui:Professor Ding, during the 2017 “Two Sessions,” you, as a member of the National Committee of the Chinese People’s Political Consultative Conference, once again put forward the “Proposal on Establishing a Rare Disease Branch under the Chinese Medical Association as Soon as Possible.” Meanwhile, for two consecutive years, you have proposed the enactment of the “Medical Security System for Children with Rare Diseases,” the “Regulations on Assistance for Patients with Rare Diseases,” and the “Orphan Drug Act.” What has motivated you to advocate so strongly for rare diseases?

Professor Ding Jie:I entered the field of rare diseases through my role as a member of the Chinese People’s Political Consultative Conference (CPPCC). After focusing on this area, I realized that the specific medical condition I was researching also falls under the category of rare diseases. Leveraging this platform and given that my own research subject is a rare disease, I deepened my engagement. As my understanding grew, so did my emotional commitment, making it increasingly difficult to step away. I became convinced that there are many worthwhile endeavors in this field deserving of our dedicated efforts.

Figure: Professor Ding Jie at the 2017 “Two Sessions” (Published with the author’s permission)

GeneWisdom:Although rare diseases affect a small proportion of the population, there are approximately 25 million patients with rare diseases in China. The United States enacted the Orphan Drug Act as early as 1983, and the European Union adopted the Action Plan on Rare Diseases in 1999. Thus, rare diseases are not so rare. From the perspective of a clinician, what is the substantive significance of advancing research on rare diseases and ensuring access to treatments, including orphan drugs, for the healthcare coverage of this patient population and for realizing the vision of “Healthy China”?

Professor Ding Jie:The significance of orphan drugs for rare diseases has drawn global attention, primarily for two reasons: first, it reflects social civilization and medical progress; second, patients with both common and rare diseases deserve care of equal degree and quality.

However, for China, beyond these implications, I believe a more significant aspect is that we are striving to realize the Chinese Dream. We are currently at a critical juncture of reform. Many rare diseases are complex and severe upon diagnosis, urgently requiring advanced medical technologies for their diagnosis and treatment.

Therefore, focusing on rare diseases at this juncture holds particular significance. It is only against such a backdrop of policy and technological advancement that we can achieve adequate healthcare coverage for the rare disease population, thereby better demonstrating our scientific and technological capabilities as well as our commitment to humanistic care.

GeneWisdom:According to research reports, Yale University identified relevant gene targets and pathways by studying rare forms of hypertension, thereby facilitating the development of angiotensin II receptor blockers (ARBs) for blood pressure reduction. Research on patients with rare congenital insensitivity to pain has identified the SCN9A gene as a target, leading to the development of novel SCN9A inhibitor analgesics, which are currently in clinical trials. Could you share with our readers at GeneHui how rare disease research, beyond benefiting patients with rare diseases, is driving advancements in new drug development and precision medicine?

Professor Ding Jie:Rare diseases possess many unique characteristics. One of these is that 70%–80% of rare diseases are caused by genetic mutations, many of which are monogenic. From the perspective of medical research, elucidating rare diseases can help explain the pathogenesis of a broad category of disorders. These insights play an irreplaceable role in the development of diagnostic and therapeutic approaches, as well as in the identification of therapeutic targets. Therefore, at this level, research on rare diseases makes unique and significant contributions.

GeneWisdom:In December 2016, the “Clinical Cohort Study of Rare Diseases” was launched as part of the Ministry of Science and Technology’s Special Project on “Precision Medicine Research,” during which you, as a pediatric expert, delivered an important address. As an emerging field, particularly in the clinical application of genetic testing, why has precision medicine prioritized rare diseases as its primary entry point? Furthermore, how can research, diagnosis, and treatment of rare diseases drive the development of precision medicine?

Professor Ding Jie:Precision medicine carries profound and extensive implications, which we will not delve into here. In a narrow sense, precision medicine aims to achieve greater accuracy and personalization at the diagnostic and therapeutic levels. It not only enhances accuracy but also yields additional benefits, such as reducing or avoiding toxic side effects and lowering overall healthcare costs. One of the characteristics of rare diseases is that the majority are caused by genetic mutations, or more specifically, single-gene mutations. Therefore, research focusing on this aspect aligns precisely with the current philosophy of precision medicine, allowing for significant breakthroughs and generating outcomes that span from scientific research and clinical practice to industrial applications. Overall,Collaboration centered on rare diseases is a key focus within the broader engineering effort in medicine and health, carried out under the guidance of the overarching concept of precision medicine.

GeneHui:Among the technologies in precision medicine, genetic testing has drawn significant concern from many parents regarding its applications. However, the market is fraught with uneven quality; for instance, the promotion of “talent genes” has misled many uninformed young parents. As a pediatric specialist, could you share with our parent readers which aspects of genetic testing truly offer clinical benefits in pediatrics?

Professor Ding Jie:Genetic testing is not a panacea. Given the higher and more precise technical standards required, as well as the need for professional interpretation of the resulting data, it is crucial to avoid its misuse. Nevertheless, genetic testing does bring significant benefits to patients and their families.

1) Some difficult and severe diseases, as well as complex and rare conditions, can be definitively diagnosed through genetic testing;

2) Genetic testing can also provide an important reference for future family planning. By clarifying the mode of inheritance or identifying pathogenic variants, it offers precise data to guide prenatal testing and other reproductive health diagnostics.

3) Genetic testing also holds great promise for elucidating disease pathogenesis and identifying drug targets.

Therefore, genetic testing not only brings benefits to patients and their families but also makes significant contributions to the advancement of medicine and the improvement of healthcare systems at the data level.

GeneWisdom:Implementing precision medicine and realizing the vision of a Healthy China present numerous challenges and opportunities. As a clinical expert, could you discuss the three most pressing challenges currently facing us, so that policymakers, industry leaders, researchers, and clinicians can jointly pay attention to, confront, and collaboratively address them?

Professor Ding Jie:First, it is important to note that opportunities and challenges coexist. Opportunities come first. For precision medicine and the Healthy China initiative, we are primarily benefiting from the broader macro-environment. Whether it is national policies or scientific and technological advancements both domestically and internationally, I believe there are more opportunities now than ever before. For example, genetic testing, which was previously generally used for scientific research and required significant costs and long cycles, is now gradually being applied in clinical practice, directly benefiting patients and many families. Therefore, the opportunities for precision medicine are substantial. At the same time, there are also many challenges. I believe the main challenges can be summarized as follows:

1) First, because precision medicine falls within the healthcare sector, particularly involving patient diagnosis and treatment, it imposes stringent requirements on researchers, medical professionals, and all other stakeholders involved. This presents a significant challenge: clinicians on the front lines must keep pace with technological advancements, integrate theory with practice, and truly comprehend the essence of these emerging technologies and their clinical significance.

2) Second, precision medicine technologies are advancing rapidly, and integrating these emerging technologies into clinical practice poses greater challenges than ever before, far exceeding the simplicity of routine testing. I believe we need to systematically re-evaluate these emerging, high-cost precision medicine technologies to establish regulatory frameworks, define indications and contraindications, and develop standardized protocols for every stage—from application and testing to reporting.

3) Third, given the tremendous technological advancements, current precision medicine requires multi-party collaboration across various stages of genetic testing, analysis, and interpretation. For instance, under what circumstances in clinical practice is it necessary for physicians to order genetic tests? Once the test results are available, should they be interpreted by physicians for patients, and how should physicians interpret such reports? Furthermore, what benefits can this interpretation provide to patients in terms of diagnosis, treatment, and rehabilitation? The effective implementation of these steps, forming a closed-loop clinical pathway through multi-party collaboration, and ensuring that emerging technologies such as genetic testing are practically integrated into clinical care, all present new challenges.

GeneWisdom:With 2016 having just passed as the inaugural year of precision medicine, 2017 has witnessed vigorous growth in the translation of scientific research and technology into clinical practice, alongside accelerated development of regulatory policies. As an advocate for rare diseases, a pediatric specialist, and a pediatrician, please share your message for 2017 in one paragraph. Wishing you good health and all the best in 2017~

Professor Ding Jie:In the current era of technological advancement, and under the overarching national goal of "Healthy China," we healthcare professionals must seize this opportunity, meet the challenges, and fulfill our unique role. As we directly care for patients, the function of healthcare workers is irreplaceable by any other profession. We cannot cling to outdated concepts in this new environment. Amidst the broad themes and context of technological progress and the "Healthy China" initiative, we must continuously deepen our learning and transform ourselves. Only in this way can we play our proper role in facing these challenges and make new contributions to the health of the general public. Thank you!

Registration Fee: Free

Conference Date: March 18, 2017, 8:00-17:30

Venue: Jintai Hotel, Beijing (No. 38 Di'anmen West Street, Xicheng District, Beijing)

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