Genetic Health in Taiwan:
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.
of hard work, we’ve seen our efforts bear fruit.
After many years
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 “NHI’s 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
Amniocentesis
Chromosome
Year
No. exam.
Normal
Abnormal
No.
No.
%
1986
2,237
2,168
64
2.9
1987
1,197
1,137
46
3.8
1988
2,336
2,257
72
3.1
1989
2,975
2,862
106
3.6
1990
3,588
3,451
95
2.6
1991
3,899
3,757
111
2.8
1992
4,749
4,607
113
2.4
1993
6,235
6,036
183
2.9
1994
9,926
9,573
245
2.5
1995
15,482
15,069
413
2.7
1996
19,011
18,495
515
2.7
1997
23,886
23,308
578
2.4
1998
17,048
16,132
487
2.9
1999
25,043
24,448
595
2.4
2000
30,407
29,316
705
2.3
2001
26609
25873
736
2.8
2002
26,763
26,029
734
2.7
2003
25,822
25,127
695
2.7
2004
27,458
26774
684
2.6
annex 1-2 for statistics
三十四歲以上孕婦接受羊膜穿刺檢查
Amniocentesis for Women Aged 35 & Above
年別
Year
35歲以上婦女
生育之新生兒數
No. of birth
34歲以上孕婦
接受檢查人數
No. of exam
檢查率（％）
Exam rate
1987
8,752
672
7.7
1988
10,577
1,163
11.0
1989
11,695
1,828
15.6
1990
12,927
2,214
17.1
1991
14,315
2,551
17.8
1992
15,366
3,048
19.8
1993
16,831
4,250
25.3
1994
18,042
6,318
35.0
1995
19,305
8,252
42.7
1996
21,399
10,134
47.4
1997
22,692
13,491
59.5
1998
22,082
12,057
54.6
1999
22,252
15,343
69.0
2000
25,602
19,337
75.5
2001
23,046
16,231
70.5
2002
21,851
16,940
77.8
2003
2004
21,468
21,472
16,343
17,885
76.1
83.3
annex 2 for statistics
Newborn Screening on Congenital Metabolic Disorders
新生兒先天性代謝疾病篩檢
Year
No. of birth
No. of exam
Screening rate
G-6-PD
CHT
PKU
HCU
GAL
1984
371,008
24,657
6.7
2
1
0
0
1985
346,208
38,792
11.2
11
3
0
0
1986
309,230
71,666
23.2
29
2
1
0
1987
314,024
117,739
37.5
413
47
2
1
1
1988
342,031
192,601
56.3
1,665
75
1
1
1
1989
315,299
214,477
68.0
2,605
77
5
0
1
1990
335,618
266,312
79.4
2,649
65
5
0
0
1991
321,932
282,453
87.7
4,430
115
10
7
0
1992
321,632
302,571
94.1
5,009
89
11
2
1
1993
325,613
314,780
96.7
5,965
114
9
2
4
1994
322,938
315,952
97.8
4,868
164
2
7
0
1995
329,581
317,921
96.5
5,967
152
10
1
2
1996
325,545
323,551
99.4
6,572
159
6
2
3
1997
326,002
322,835
99.0
6,427
201
7
3
2
1998
271,450
267,089
98.4
5,084
164
6
3
2
1999
283,661
281,223
99.1
5,334
225
4
0
5
2000
305,312
302,557
99.1
5,776
261
11
1
2
2001
260,354
255,643
98.2
3,808
175
5
0
0
2002
247,530
246,479
99.6
4,049
195
6
3
0
2003
227,070
226,825
99.9
3,320
141
4
0
3
2004
216,419
216,202
99.9
1,785
66
1
0
1
Total
6,418,457
4,902,325
75,726
2,527
111
34
28
各單項疾病發生率 Incidence
1/63
1/2,030 1/41,654 1/127,650 1/164,882