Accomplishments in the Management of Genetic Diseases Dr. Chun-Ming Wu
Director, Bureau of Health Promotion, DOH, Taiwan

I.Preface
It has been 20 years since the Genetic Health Act was enacted in Taiwan in 1985. With the mission to protect the health of mothers and children and secure the happiness of families, the Department of Health looked to developed countries for their experience in the planning and advocacy of genetic health, in the screening of genetic diseases and their services. Additionally, in 2000, we passed the Rare Disease and Orphan Drug Act in order to provide comprehensive and concrete care and assistance to patients and families. The legislation has also helped to assist patients in receiving the proper medication and life-maintaining nutritional foods. Taiwan is the fifth country in the world to implement rare disease-related legislation. The two legislations mentioned above have effectively laid the foundation for genetic health and services in Taiwan. After many years of hard work, weve seen our efforts bear fruit. The following are our accomplishments in the management of genetic diseases as well as our future prospects:

II.Policy on the prevention and control of genetic diseases A. Disease Prevention
In the spirit of preventive medicine and with the help of modern medical technology, we apply the following strategies to assist patients with inherit disease or rare disease to receive correct diagnosis in time. We also provide appropriate genetic counseling. 1.Genetic disease prevention and control service network:, including pre-marital health examination, genetic counseling, newborn screening, G6PD diagnosis, thalassemia check, chromosome analysis, pre-natal diagnosis and genetic diagnosis, etc.
2.Strengthen the public education of genetic health, personnel training, certification of genetic counseling centers, appraisal of genetic diagnosis laboratories and quality control procedures, and assurance the quality of related genetic services.

B. Patient Care
In 1995, National Health Insurance went into effect, alleviating the financial burdens of those who are afflicted with catastrophic illnesses and are burdened with long-term medical costs. In August 2000, the Rare Disease and Orphan Drug Act went into affect, providing comprehensive patient care.
1.In order to protect the right of rare disease patients to receive medical care, the bureau promoted the amendment of the Rare Disease and Orphan Drug Act, and simplified the marketing, testing and registration of orphan drugs as well as the application process for international medical cooperation programs.
2.The bureau subsidized medical costs that are not covered by the National Health Insurance to lower the financial barriers to receive medical care andaward the manufacturing and R&D of orphan drugs. Committee for the Review and Examination of Rare Diseases and Orphan Drugs was also established for the examination and public announcement of rare disease subsidies.

III.Accomplishments
A.Disease Prevention
1.Genetic disease prevention and control network and Relevant Services
(1)Pre-marital health examination: Encourage unmarriedand those married without children to receive testing. Follow up and transfer those who may be afflicted transmittable and/or psychological genetic diseases, and proceed to confirm diagnosis and treatment. Provide genetic counselling and information on birth control to individuals at risk of giving birth to children with deformities or genetic diseases. There are currently 180 hospitals in Taiwan that provide pre-marital health check-ups.
(2)Pre-natal diagnosis: Provide genetic diagnostic services including ultrasound, amniocentesis, chorionic villus sampling, and collection of umbiblical cord blood for pregnant women who are at risk of having babies with genetic disease. In the event that abnormalities are detected, genetic counseling will be provided and appropriate management. Currently there are 276 medical institutions in Taiwan that collect samples. Samples are then delivered to the 26 clinical cytogenetic laboratoriesor the 11 molecular genetic laboratoriesapproved by the Department of Health for evaluation. In 2004, 27,458 high-risk pregnant woman had accepted amniocentesis, and in 684 cases (2.6%) chromosomal abnormalities were detected. Furthermore, 17,885 pregnant women above age 34 had accepted amniocentesis (86.9% of women above age 34 were tested) and received appropriate pre-natal care. (refer to appendix 1 for annual achievements)
(3) Newborn screening for congential metabolic disorders: The disorders of screening: congential hypothyrodism, phenylketonuria, Homocystinuria, Galactosemia, and glucose-6-phosphate dehydrogenase. 698 hospitals and clinics collect newborn babies heel blood sample, and the samples will then be sent to National Taiwan University Hospital, Taipei Institute of Pathology, and Chinese Foundation of Health for testing. Cases suspected to be positive are followed up by the newborn screening centers and positive cases are referred to hospitals for further tests (PKU, CHT followed up by 6 hospitals and G6-PD followed up by 18 referral hospitals) and later diagnosis treatment and genetic counseling will be given. In 2004, 216,202 newborn infants were screened and the screening rate was 99.9%. 75,726 cases of G6-PD, 2,527 cases of CHT, 111 cases of PKU, 34 cases of HCU, and 28 cases of GAL were detected. (Please refer to annex 2 for statistics)
(4) Genetic diagnosis and counseling: Provide genetic diagnosis and counseling to individuals who might be suffered from genetic disease and their families, newborns afflicted with congenital metabolic disorders, and those who are suspected, by pre-marital tests, to have genetic diseases. Hospitals provide general examinations, and if necessary, patients are transferred to genetic diagnosis labortories that are approved by the DOH. Further testing will be conducted for appropriate managements as soon as possible.

2.Quality control, training and education
(1) Certification of 11 genetic counseling centers providing genetic counseling models and services: National Taiwan University Hospital, Taipei Veterans General Hospital, Mackay Memorial Hospital, Kaohsiung Medical University Hospital, Hualian Tsu Ji Hospital, Taichung Veterans General Hospital, Chinese Medical University Hospital, Chung Shan Medical University Hospital, Changhwa Christian Hospital, National Cheng Kung University Medical College Hospital, and Chang Geng Memorial Hospital, Linko branch. (2) Authorize institutions with projects concerning Quality control of genetic diagnosis lab, Clinical cytogenetic lab etic quality testing and laboratory building plan, An external quality assurance program for newborn screening and G6PD assay. Periodically supervise and monitor the quality of genetic service, be a gate keeper for ensuring quality genetic diagnosis in Taiwan and rase the standard of genetic diagnosis.
(3)Personnel training: the genetic education plan for medical personnel and health agency personnel, continued education for genetic counsellors, pre-natal diagnosis conference of information provision for prenatal diagnosis, workshops for practice of newborn screening, advanced curriculum for genetic technicians of and training program for genetic counsellors.
(4)Diverse and integrated public education plan

B.Patient Care
1.Protecting the right to receive medicare of rare disease sufferers (1) Establish the Committee for the Review and Examination of Rare Diseases and Orphan Drugs, confirm and announce 128 categories and 148 types of rare diseases, and announce the orphan drugs for 75 types and special nutrition foods for 40 types of rare diseases. Establish special review group for rare disease medical subsidies.

(2)Single consultation window for rare diseases and databank of rare diseases: From August 9, 2000 to September 30, 2005, 2,113 cases were reported by various hospitals.
(3)Special Nutrition foods and drugs supply center; subsidize and supply 28 types of special nutrition foods for maintenance of life and store 9 types of emergency drugs for rare disease patients. (4)International medical cooperation and international examination services for rare diseases patients: integrate and provide the informations of international examination for rare diseases to smooth the international medical cooperation channels; the government and TRDF subsidize, respectively, 40% of the testing fees.
(5) Application procedure for orphan drugs: simplify application procedure, expand range of applicants, extend application time to 2 years, and import drugs on basing on actual needs.

2. Lower barriers to receiving medical care, raise standard of care, award R&D
(1) According to the Rare Disease and Orphan Drug Act, subsidies for the diagnosis, treatment, medicine, special life-maintaining nutrition foods will be provided if not covered by the National Health Insurance. (2)Rare diseases announced by the Bureau of Health are included in the definition of Mentally and Physically Disabled Protection Act and NHIs catastrophic illness to reduce the financial burden of patients and their families.
(3)Develop plans to encourage and reward the supply, manufacturing and R&D of orphan drugs: Assist non-governmental groups to educate people about orphan drugs and advocate bio-products. On a regular basis, reward those who contribute in the supply, manufacturing and R&D of orphan drugs.
(4)Set up a plan to reward medical personnel who report on incidences of rare diseases (or suspected to be rare diseases) and a plan to educate on the prevention and control of rare diseases. Organize campus conferences, publish A World that is smaller than the scale of ten thousand to one (the dignity of rare disease patients) promotional pamphlets and rare disease health passport and booklet on metabolic disorders in Taiwan. Together with TRDF and Public Television Service Foundation produce Born Fighters--- stories of rare disease patients.

IV.Future Prospects
In the domain of disease prevention, we shall deepen the promotion of genetic health services, strengthen the genetic disease prevention and service network, train personnel related to genetic service monitor mechanism of quality accuracy, complete the genetic disease and rare disease reporting procedure, and follow up cases of genetic diseases and provide effective health management.
In the domain of patient care, we shall integrate the resources from local health institutions and local community resources to promote community genetic service. In this way, we can better inform citizens about genetic and rare diseases, and help them to accept these illnesses. Also, we shall simplify application and examination procedures, apply the results of genetic medicine research project to improve the diagnosis, treatment and service platforms of genetic and rare diseases; we will also reward research related to the prevention and control of rare diseases, and assist rare disease patients with their employment, educational and care needs by connecting social, political and educational resources.

annex 1-1 for statistics...
(Please read file)