Extending hope to more families with rare diseases in China

This year may be the most influential in iHope China’s short history. In Changsha, Hunan Province, program leaders recently announced plans to deepen its impact by increasing reagent donations and expanding its coverage area.

Since its inception in 2022, iHope China has embodied its namesake for families dealing with rare genetic diseases. The program was established by the Special Fund for the Diagnosis and Treatment of Genetic Diseases under the March of Dimes Birth Defects Foundation of China and receives support from the Illumina Corporation Foundation and Give2Asia.

In cooperation with major hospitals across the country, iHope China has made significant progress. It offers free genetic testing to families of patients with rare diseases and provides systematic training in the diagnosis of genetic diseases to front-line doctors nationwide. By mid-May 2024, the program had helped 513 families in collaboration with seven hospitals, providing valuable treatment options for many children.

Addressing the issue of limited access to timely health care for basic patients in remote areas, the program has also implemented voluntary clinics in participating hospitals.

The scope of iHope China promises to be extensive in 2024, covering 13 provinces and cities in China. By the end of the year, the program aims to support 1,800 families with rare diseases through genetic testing, and during the event’s launch, more than 200 clinicians joined the offline genetic counseling workshop. This training includes instructions for the entire diagnostic process, from technology selection to report interpretation.

Early screening and diagnosis of rare diseases are critical to improving the prognosis of patients. Professor Wu Lingqian, director of the Department of Genetics at the School of Life Sciences at South Central University in Changsha, says: “The level of awareness of rare diseases among front-line doctors is crucial to the ultimate benefit of tens of millions of diseases. rare. Disease families in China. Expanding the program and increasing medical education efforts will mean more patients will benefit from an improved rare disease prevention and treatment system.”

Xue Jingjie, secretary general of China’s March of Dimes Birth Defects Foundation, points to the program’s role in improving early diagnosis, providing timely treatment and supporting families both psychologically and financially. “With the support of strong national policies, medical advances and broad public opinion, the early diagnosis rate of rare diseases in China is improving. The iHope China program is dedicated to educating patients and their families about rare diseases and providing comprehensive support,” Xue says.

According to a study published in European Journal of Human Genetics71.9% of known rare diseases are caused by genetic variations and nearly 70% manifest in childhood.¹ Over the past decade, whole-genome sequencing has become increasingly vital to enable timely and accurate diagnosis of genetic disease and increase treatment time for children with rare diseases.

“At Illumina, we are committed to accelerating access to genomics to achieve health equity for billions around the world,” notes Sharon Vidal, global leader of Corporate Social Responsibility at Illumina. “Expanding the reach of genetic testing enables families and communities to benefit from next-generation sequencing. To ensure that treatments are effective in diverse populations, we strive for equal representation in genomic data. This effort helps reduce bias and improves medical outcomes for a wider range of patients.”

Jenny Zheng, Illumina’s senior vice president and general manager of the Greater China region, adds, “The iHope China program reflects our commitment to expand access to genomics and reduce the burden of disease on patients. In China, we uphold the spirit of ‘genomics for good’, promoting public welfare through technological innovation and collaboration with partners. Our goal is to extend hope to more families with rare diseases through science and care.”

Driven by the mission to contribute to China’s disease prevention goals, the program will continue to strengthen clinical acumen in the diagnosis and treatment of rare diseases. It will also leverage the collaborative strengths of philanthropic organizations, medical institutions and enterprises, strengthening public awareness and fostering social advocacy for rare diseases.

For more information about iHope China or to inquire about the application, please contact ihope@csqx.org.cn.

¹Nguyengang Wakap S, Lambert DM, Olry A, et al. Cumulative point prevalence estimation of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020; 28 (2): 165-173. doi: 10.1038/s41431-019-0508-0