Specialized Symposium for Genetic Physicians on RD

In the decision-making process of whether to include orphan drugs in the national health insurance (NHI) system, the roles of doctors, medical experts, and patient advocacy groups are all crucial. To strengthen communication and collaboration between patient groups and the medical community, TFRD partnered with the Taiwan Society of Human Genetics to host a symposium titled “Rare Diseases from an Economic Perspective.” This event took place during the society’s spring seminar on March 23rd.

Government Should Expand Newborn Screening Programs

One of the central themes of the symposium is the expansion of newborn screening programs. Since 2019, the number of government-funded screening items has increased to 21. However, with the advent of new pharmaceutical treatments, experts are calling on the government to initiate comprehensive project assessments and expedite the inclusion of additional conditions in the screening portfolio, in order to more effectively safeguard the health of newborns.

The Economic Evaluation And Fairness Of Orphan Drugs Should Be Prioritized

Professor Pwu Raoh-Fang underscored that medical efficacy should take precedence over financial considerations in the evaluation of orphan drugs. She expressed concern that the current NHI system often places disproportionate emphasis on cost, which may lead to the neglect of actual treatment needs for patients with rare diseases. Ms. Serena Wu, founder of TFRD, echoed this sentiment, stating that the NHI system should act as a protector of the public’s well-being. “Caring for patients with rare diseases is a fundamental responsibility that cannot be overlooked,” she said, adding that the voices and needs of patients must be given greater weight in policymaking. Both experts called for a collaborative effort across all sectors of society to ensure that patients in urgent need of treatment can access necessary medications without undue delay.

Breakthroughs in Genetic Diagnosis Technology Are Promising

Another highlight of the symposium was the latest advances in genetic diagnosis technology. With the application of next-generation gene sequencing technology, the concept of third-generation gene sequencing is gradually becoming a reality. TFRD once again called on the government to carefully evaluate the possibility of adding more newborn screening items to protect the future generation.

Translator: David Lee (Becker Muscular Dystrophy)