Legislative Council meeting – Enacting legislation to protect rights of rare disease patients


MR CHAN CHUN-YING (in Cantonese):

Deputy President, in 2017, pro-establishment Members of the Legislative Council set up a cross-party Rare Diseases and Cancer Concern Group (“the Concern Group”), of which I am one of the members, and the few members already spoke earlier on. After joining the Concern Group, I have many opportunities to meet the patients and the patient groups concerned, Secretary for Food and Health Prof Sophia CHAN and the management level of some drug manufacturers, so that I can further understand the present situation of rare disease and cancer patients in Hong Kong.

At first, I was pleased to see that the Government has begun to pay attention to the related issues and, in the Budget last year, allocated HK$500 million to extend the coverage of pharmaceutical subsidy to specified drugs used by patients with special clinical needs. However, as many Members also mentioned earlier, to the rare disease patients in Hong Kong, since the drug prices are exorbitant, this amount of funding is a mere drop in the ocean. According to the estimation of rare disease support groups, the amount practically required each year is HK$300 million to HK$400 million. In other words, the funding allocated by the Government will be exhausted after a little more than one year. I thank Dr Fernando CHEUNG for moving this motion today for us to air our views. I expect that after the discussion today, more people in the community will be concerned about the issues of rare diseases in Hong Kong. I also hope that the Government can provide further support to the patients to show the care of Hong Kong society towards this kind of patients and their family members.

Deputy President, at present, there are about 7 000 kinds of rare diseases widely recognized in the whole world, but the definitions of rare diseases in various places in the globe are different. In some countries, the definition is based on the total number of rare disease patients, whereas in certain countries, the definition is based on the percentage of rare disease patients in total population. We shall take the United States as an example. In 1983, it enacted the Orphan Drug Act, the first of its kind in the world to promote research and development of rare disease drugs in the pharmaceutical sector. While this Act seeks to encourage research and development of rare disease drugs through the provision of economic incentives, it has also laid down a definition of rare disease as a disease which affects less than 200 000 people. The European Union defines rare disease as a disease which affects no more than 1 in 2 000 individuals. In Hong Kong, there is no specific definition of rare diseases. But Mr MA Fung-kwok just mentioned the latest discovery from the study of the University of Hong Kong that rare disease patients account for 1.5% of our population, or there is one patient in every 67 people. However, since this study is only based on 467 kinds of diseases under the European classification system of rare diseases, the actual number of patients should exceed that figure. In other words, in the community that we are living, there are already rare disease patients urgently waiting for assistance.

Not a few rare diseases are attributed to genetic mutations or genetic defects, and the onset can be in the early childhood or even infancy of patients. A large majority of rare diseases will seriously affect the health and even cost the lives of patients. The Policy Address last year mentioned that the Government would accept the Steering Committee on Genomic Medicine’s recommendation to conduct a large-scale genome sequencing project in Hong Kong. Based on international experience, if whole genome sequencing is used in the diagnosis of these rare diseases, the rate of diagnostic accuracy can actually be increased from the present 10% to between 30% and 40%. When individual rare disease patients are seeking medical treatment, the major difficulty they usually encounter is that the diagnosis cannot be confirmed. They thus need to visit various major hospitals and both patients and their family members will be driven to exhaustion. While this genome sequencing project should be able to help them alleviate their psychological pressure, a deeper understanding of genetic risks is also conducive to a better family planning for the future.

After the diagnosis of rare disease patients is confirmed, they need to face another more significant problem: exorbitant medical costs. The high level of costs for rare disease drugs has been described many times as “astronomical” by Members, and I believe these drugs are not even affordable by middle-class or slightly well-off families. We shall take Spinal Muscular Atrophy (“SMA”) often mentioned by Members as an example. The cost of new SMA drugs for the first year is HK$6 million, and then HK$3 million per year for subsequent years. I think this level far exceeds the affordability of most members of the public. As a member of the Concern Group, I have come across some cases and learnt that the expenditure on certain specific cancer drugs could be $20,000 to $30,000 each month, or $200,000 to $400,000 each year.

Being left with no choice, all rare disease patients have to bear the high cost of drugs. Although there is already a mechanism to include certain drugs under the scope of subsidy, as we found in our study on the mechanism, the application procedures are complicated and time-consuming. Besides, the drug manufacturers usually have their own different considerations and as a result, some drugs basically cannot be introduced into Hong Kong. Without positive intervention by the Government, I think the present rigidities will not undergo any changes. In brief, without appropriate subsidies, the patients will resign themself to death. Since the existing medical assistance programme in Hong Kong covers no more than 10 rare diseases, I hope that the Government can formulate a comprehensive medical support programme so that the patients and their family members can obtain steady medical services.

Deputy President, after joining the work of the Concern Group, one of my colleagues who used to work with me in the banking sector contacted me. Since his child is a rare disease patient, he wants to obtain more information and support, and I immediately refer the case of his child to the relevant patient group. I learn from this case that owing to the indifference of the Government, many families are still very lonely and have to tacitly bear all the pressure. Since at present, there is almost no support to rare diseases, I fully support the requests from Members today, including laying down a definition, introducing a rare disease information system, stepping up health care training and introducing genetic tests. Therefore, I support the original motion of Dr Fernando CHEUNG and the amendments from Prof Joseph LEE and Dr Elizabeth QUAT.

I so submit. Thank you, Deputy President.