The death of a Hong Kong woman who succumbed to a rare genetic disease last month has ignited a public debate on the city’s lack of rare disease policies. The discussions revolved around whether more public resources should be allocated for patients suffering from rare diseases in an effort to offer them a better chance at improving their condition.

Yin-Lan Chi had been suffering from tuberous sclerosis complex (TSC), a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the heart and kidneys. A 36-year-old single mother to a 13-year-old daughter who has the same condition, Chi was dependent on the government for financial assistance and could not afford the medicine that could have saved her life. Just a week before her death, Chi appeared before public officials during a Legislative Council meeting in a desperate plea for the subsidisation of a new, expensive drug that could help treat her condition. Afinitor, which costs around $20,000HKD a month and was not a standard drug subsidised by the government, is now expected to become subsidised for certain cancers in July under the Samaritan Fund—a charity that aims to provide financial assistance to needy, low-income families.

Comparisons between Hong Kong and Taiwan’s rare disease policies

The definition of the term ‘rare disease’ varies depending on the country and organisation. The World Health Organisation defines it as a disease with 6.5 to 10 cases in every 10,000 people; in the United States, it is a disease affecting fewer than 200,000 people in the population, in contrast to fewer than 5 in every 10,000 people in European Union countries; in Japan, it is defined with a prevalence rate of less than 0.1 per cent of its population. Globally, there are more than 7000 rare diseases that affect one in 15 people.

Definition of rare diseases in terms of prevalence criterion (Source: Research Office:
Legislative Council Secretariat)
Definition of rare diseases in terms of prevalence criterion (Source: Research Office: Legislative Council Secretariat)

Hong Kong, however, has no clear definition of rare diseases, nor does the government have an accurate count of local incidences or established any formulated funding policy to support rare disease patients. Hong Kong is also lacking of comprehensive evidence on the epidemiology and economics of rare diseases, as well as a complete and integrated rare disease patient registry. The Hong Kong Alliance for Rare Diseases (HKARD), a patients’ rights group for rare disease patients and their families, estimates there are around 7,500 patients living with rare diseases in the city. Currently, drug treatment is only available for around 500 rare diseases (7 per cent of all rare diseases).

In stark contrast, Taiwan has long shown the utmost support and commitment towards their rare disease patients’ needs and concerns, and has devised comprehensive medical care policies to address issues faced by these patients. Taiwan’s definition of rare diseases is having a prevalence rate of fewer than one case in 10,000 people, or diseases that meet other specified criteria such as having a genetic origin or being difficult to diagnose and treat. In total, there are about 210 designated rare diseases in Taiwan. Most recent statistics reveal that there were 7625 patients suffering with rare diseases in 2015, and the average cost incurred per patient was around NT$542,000 ($136,000 HKD).

> Read more: Should the Hong Kong government subsidise drugs for tuberous sclerosis complex (TSC) patients?

From 2016 to 2017, medical and health expenditures in Hong Kong totaled at $57 billion HKD. However, investment in healthcare has been strongly dictated by criteria such as patient numbers, clinical evidence and cost-effectiveness, causing a sizable number of patients being neglected by the system, most detrimentally those affected with rare diseases.

What Hong Kong can learn from Taiwan’s orphan drug mechanism

One of the biggest challenges with rare diseases, besides the diverse portfolio of rare disease conditions and insufficient knowledge and training, is the high costs and risks of research and development of drugs, which are commonly referred to as orphan drugs. There is a lack of incentive for research into orphan drugs as there is insufficient profit motive to develop such drugs that would benefit just a small proportion of the population. This means that rare disease patients constantly face challenges such as delayed diagnosis, unavailability of treatments, and limited access to expensive drugs and treatments. Currently, Hospital Authority relies on only an expert panel on rare genetic diseases to provide subsidised drugs and treatments for six enzyme-replacement drugs and two rare cancer drugs.

In Taiwan, the designation of rare diseases are evaluated by a review committee under the Ministry of Health and Welfare (MOHW), and the committee also considers the designation of orphan drugs. In support of their rare disease patients, Taiwan enacted the Rare Disease and Orphan Drug Act in 2000, which included a comprehensive outline to improve the awareness, prevention, diagnosis and treatment of rare disease, as well as the provision of easier access to drugs by promoting and ensuring the need for research, development, manufacturing and supply of said life-saving medications. Unlike Hong Kong, Taiwan has an orphan drug designation system in place to give incentives for the development of orphan drugs for treating rare diseases. The MOHW offers incentives to importers and manufacturers of designated orphan drugs including a simplified market approval procedure, reduced registration fee and a 10-year grant of marketing exclusivity.

Taiwan also offers reimbursement of up to 80 per cent of the costs of diagnostic services, designated orphan drugs, treatments and supportive equipment, and 100 per cent reimbursement of costs of life-sustaining nutritional supplements for all patients suffering with designated rare diseases. Low-income patients are fully reimbursed for all medical costs.

> Read more: Orphan drugs - Exactly how much of a financial burden are these?

In 2015, the National Health Insurance Administration in Taiwan paid NT$4.1 billion (around $1 billion HKD) for rare disease drugs, equating to 0.27 per cent of health insurance medical expenses with a total of NT$150 billion, of which all 7,625 rare disease patients benefited. If Hong Kong’s annual expenditure on rare disease drugs were to match that of Taiwan, it would only be around $300 million HKD, which equates to just 5 per cent of the $5.71 billion HKD of Hospital Authority’s total expenditure on drugs for 2015-16. In turn, more than 2,500 patients could reap the benefits.

Over the past two years, HKARD submitted multiple proposals in relation to the Policy Address and the Budget requesting the government to make significant changes, including making better use of funds for drugs for rare diseases, expanding coverage of research to include those of rare, genetic origin, and to set up an orphan drug mechanism. But they have yet to receive any response to these pleas from the government.

Chi expressed her wishes during the Panel on Health Services Meetings as she pleaded the Hong Kong government to subsidise expensive medications for rare diseases patients. (From 45:38 to 48:42)

Cheuk-Ting Law, Democratic Party lawmaker who attended the same Legco meeting where Chi had pleaded for her life, stated, “A human life is priceless – you cannot put a price tag on it. This is not the way Hong Kong should go. No one should be denied treatment because of economic concerns, especially when we have billions of fiscal reserves. This is inhumane.”

Hong Kong needs to step up and start addressing the needs of rare disease patients, and bridge the vast gap that exists between patients’ demands and the current system and policies. It would be beneficial to look to Taiwan and emulate their commitment and focus in helping their rare disease patients. The first logical step would be for the government to come up with a clear definition of rare diseases, which would then help facilitate the establishment of a comprehensive rare disease funding policy that could undoubtedly help save thousands of lives. MIMS

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