HGP2 RaDiAnce-APAC

Introduction

Rare diseases represent a significant yet often under-recognized global health challenge, collectively affecting hundreds of millions of people worldwide. The Asia-Pacific region bears a substantial share of this burden due to its large population and high birth rates. Most rare diseases are genetic in origin, and many present during childhood, creating long-term health and social challenges for affected families and health systems.

HGP2 RaDiAnce–APAC is a regional initiative that brings together clinicians, researchers, policymakers, and partners across the Asia-Pacific region. It aims to strengthen rare disease diagnosis, advance genomic medicine, and promote equitable access to precision health in alignment with the global vision of the Human Genome Project II (HGP2).

Background

More than 6,000–8,000 rare diseases have been identified worldwide, approximately 80% of which are genetic, and many manifest during childhood.
Despite rapid advances in genomic technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS), access to rare disease diagnosis and care remains uneven across the Asia-Pacific region. At the same time, global genomic datasets remain heavily biased toward populations of European ancestry, limiting the applicability of genomic medicine for many Asian populations.

Challenges

01

Diagnostic inequity

Uneven access to genomic diagnostics and rare disease expertise leads to delayed or missed diagnoses across the region.

02

Fragmented health systems

Rare disease services remain concentrated in tertiary centers, with limited registries and referral coordination.

03

Underrepresentation in genomic data

Global genomic datasets underrepresent Asian populations, limiting accurate variant interpretation.

04

Socio-economic burden

High out-of-pocket costs and limited treatment access place substantial financial strain on affected families.

05

Limited public awareness

Low awareness among healthcare providers and the public contributes to misdiagnosis, delayed referral, and stigma.

Mission & Goals

VisionTo advance equitable, sustainable, and regionally relevant precision health for rare diseases across the Asia-Pacific region in alignment with the global vision of HGP2.
MissionTo strengthen rare disease diagnosis, research, and public health integration in the Asia-Pacific region through regional collaboration, genomic innovation, and shared knowledge.

Strategic Goals

Regional Collaboration

Build a regional platform connecting clinicians, researchers, and policymakers across Asia-Pacific to enable knowledge exchange and coordinated action.

Equitable Access

Reduce disparities in rare disease diagnosis and care by strengthening local capacity and promoting inclusive policies.

Scientific and Genomic Innovation

Accelerate rare disease discovery and diagnosis through genomic and multi-omics research, regional datasets, and collaborative studies.

Public Health Integration

Support countries in integrating genetic diagnosis and rare disease management into national health systems and policy frameworks.

Ethical and Responsible Collaboration

Promote transparency, data sovereignty, patient protection, and culturally appropriate governance across regional initiatives.

Working Groups

To advance its mission, HGP2 RaDiAnce-APAC organizes its work through several specialized groups:

Clinical Care and Treatment Group

Focus on improving diagnostic pathways, treatment standards, and patient care for rare diseases.

Genetic Diagnosis Group

Focus on genomic technologies and diagnostic strategies for rare diseases, including WES/WGS implementation and variant interpretation.

Public Health Group

Focus on promoting prevention programs, policy integration, and public awareness of rare diseases.

Data & AI Technology Group

Focus on developing shared data resources, genomic databases, and AI-enabled analytical tools.

Industrial Partner Coalition

Focus on providing technical and logistical support and in-kind resources to expand diagnostic and research capacity.

Funding Coalition

Focus on mobilizing sustainable funding through partnerships with multilateral and bilateral organizations, industry, research funds, and NGOs.

By joining the HGP2 RaDiAnce-APAC communiy, I agree to receive HGP2 RaDiAnce-APAC related information ( incuding briefings, event notifications,important publications, etc.) through email, and agree to be contacted by the HGP2 RaDiAnce-APAC organizing committee via email to promote my participation intention.

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