Replies to LegCo questions

LCQ3: Rare diseases

Following is a question by the Dr Hon Elizabeth Quat and a written reply by the Secretary for Food and Health, Dr Ko Wing-man, in the Legislative Council today (May 6):

Question:

It has been reported that last month, a patient suffering from hereditary spinocerebellar ataxia killed himself allegedly because he was increasingly sick and he worried that he could not afford the medical expenses. The incident has aroused concern whether the medical services for patients suffering from rare diseases (rare disease patients) and support for their families are inadequate, as well as whether the authorities have formulated the relevant policies. In this connection, will the Government inform this Council:

(1) whether public healthcare institutions have adopted any criteria for determining "rare diseases"; if they have, of the details; if not, the reasons for that;

(2) whether public healthcare institutions have any plan to set up a centralised database on rare diseases for storage of information on experience obtained in treating such diseases, with a view to enhancing the efficacy of the relevant diagnoses and treatments; if they do, of the details; if not, the reasons for that;

(3) of the current number of healthcare personnel who have received training on clinical genetic service, and whether the authorities have assessed if such healthcare manpower is sufficient to cope with the demand; as many rare diseases are hereditary, whether the authorities will allocate more resources to train more healthcare personnel specialised in clinical genetic service; if they will, of the details; if not, the reasons for that; of the authorities' measures to attract more medical students to study this specialty;

(4) as some patients' organisations have relayed to me that in Hong Kong, there is a lack of healthcare personnel experienced in treating rare diseases, whether the authorities will allocate more resources to strengthen the on-the-job training for the relevant healthcare personnel; if they will, of the details of their specific plans and resource allocations; if not, the reasons for that;

(5) given that early diagnoses may help control certain rare diseases, whether the authorities have plans to step up screening of children with family history of rare diseases; if they do, of the details; if not, the reasons for that;

(6) as currently quite a number of countries and regions have enacted legislation and put in place policies regarding rare diseases, whether the authorities will expeditiously enact legislation and draw up policies on rare diseases so as to improve the support for rare disease patients; if they will, of the timetable and specific direction of such work; if not, the reasons for that;

(7) whether the authorities will provide financial incentives to encourage pharmaceutical companies to develop drugs for treating rare diseases so that rare disease patients can obtain needed medications; if they will, of the details; if not, the reasons for that;

(8) whether the authorities will allocate more resources to provide financial assistance for rare disease patients and their families; and

(9) as family members of rare disease patients are under enormous psychological pressure due to the prolonged period of time in taking care of the patients, of the support measures taken by the authorities to help alleviate their pressure?

Reply:

President,

Regarding the various parts of the question, my consolidated reply is as follows:

(1), (2) and (6) There is currently no common definition of rare diseases worldwide. The definition of rare diseases in different countries varies depending on their healthcare systems and situations. It is not easy to get hold of the full picture about information and data of rare diseases. Many treatment plans are still under development and the clinical responses of individual patients can be diverse. We need to acquire more local experience before a treatment strategy can be formulated.

Currently, there is no definition of or comprehensive database on rare diseases in Hong Kong. The Clinical Genetic Service of the Department of Health (DH) provides clinical diagnosis, counselling and prevention services for those families possibly affected by genetic-related diseases. The Hospital Authority (HA) also provides medical services for patients suffering from genetic diseases and maintains the relevant records.

To fully understand the needs of patients suffering from uncommon disorders and provide them with the appropriate medical care and supportive services, HA will continue to liaise with patient groups and pay close attention to international medical research and healthcare policies on uncommon disorders in other regions.

(3) and (4) In the medical professional framework of Hong Kong, clinical genetics is not an individual specialty. Services related to clinic genetics can be provided by different specialties, such as paediatrics. We do not possess comprehensive data on the number of healthcare professionals of different specialties that have received relevant training in clinical genetics or are providing such services.

HA will, having regard to such factors as service demand and medical development, formulate human resource measures (e.g. provision of necessary training to healthcare professionals) to provide appropriate healthcare services for the public.

(5) The Clinical Genetic Service of the DH has provided clinical diagnosis and counselling services for over 30 years for families possibly affected by genetic-related diseases. The DH and the HA have also set up a working group to study the possible options for screening for errors of metabolism for newborns in Hong Kong, including trying out a pilot scheme in the public healthcare system. The working group will study various issues such as the types of disease to be screened, scientific evidence for the effectiveness of screening and implementation logistics.

The Government will continue to keep in view the medical development of genetic diseases and study, when appropriate, the introduction of relevant screening methods and technologies.

(7) Being the major public healthcare service provider in Hong Kong, HA places high importance on providing optimal care for all patients and ensuring fair and efficient use of public resources.

HA holds discussions with relevant pharmaceutical companies on individual diseases from time to time, with a view to working out a sustainable long-term plan to benefit more patients in terms of drug prices and drug subsidies. HA will continue to maintain communication with stakeholders and keep all sectors abreast of the latest development of the Drug Formulary and drug subsidies.

(8) HA has been very concerned about the needs of patients with uncommon disorders. HA currently provides enzyme replacement therapy (ERT) for patients suffering from six types of lysosomal storage disorders (LSD), including Gaucher disease, Pompe disease, Mucopolysaccharidosis Type I/Type II/Type VI and Fabry disease. These ERT drugs are now Special Drugs in the HA Drug Formulary.

From 2008-09 to 2014-15, the Government allocated in stages a total of $55 million recurrent expenditure to subsidise the expenses of the above six types of patients on the expensive drugs. HA has put in place an independent expert panel (comprising specialist physicians, paediatricians, clinical pharmacologists and pharmacists) to regularly assess the suitability of individual patients to receive ERT based on their clinical conditions. For applications considered and approved by the expert panel, HA will provide ERT for the patients concerned at standard fees and charges.

Due to the complexity of uncommon disorders, in addition to the appropriate drugs, HA provides various treatments other than drug therapy as necessary for patients with uncommon disorders, including rehabilitation care, pain alleviation and surgical treatment.

HA has put in place a mechanism to regularly evaluate new drugs and review the current list of drugs in the Drug Formulary. In evaluating new drugs for listing and reviewing the existing drugs in the Drug Formulary, HA would make reference to the latest developments in clinical research and scientific evidence. It would also uphold the core values of evidence-based medicine, rational use of public resources, targeted subsidy and opportunity cost, and take into account various factors, including the efficacy and safety of the drugs, international recommendations and practices, and views of professionals and patient groups.

HA will continue monitoring the situation, and make appropriate adjustment to the treatment options where necessary, in order to provide holistic care for patients with uncommon disorders.

(9) HA has been actively establishing extensive network with patients and patients' self-help groups, strengthening the psychological and social support for patients and their carers, and providing patients and their carers with empowerment and education activities, psychosocial and other necessary support.

Furthermore, to help patients and their families address or tackle emotional problems and difficulties in daily living caused by uncommon disorders, medical social workers, who are knowledgeable of community resources, assist the patients and families in need to make use of community resources, or arrange referrals or applications for them where appropriate. For example, medical social workers may refer them to the appropriate community support services, or help them apply for charitable funds and use of rehabilitative appliances, etc.

Ends/Wednesday, May 6, 2015
Issued at HKT 15:45

NNNN