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The International Journal of the Royal Society of Thailand
Volume XI - 2019

sensitivity, women can use the screening test kit by themselves, without a visit
to the clinic, a main barrier for adoption of Pap smear as screening test for
cervical cancer. The ultimate goal for prevention of cancer related infection is

development of vaccine to prevent infection, the HPV vaccine is the most
important intervention to eradicate the cervical cancer within next decades
(Saslow et al. 2016). The hepatitis B vaccine also dramatically reduced number
of chronic liver failure and cancers from hepatitis B virus. Other pathogen
would need vaccine for preventing those viruses.

Cancer Screening Genetic Service ELSI
implementation Factors

Cervical MOPH/ MHESI/ Complex genetic HPV DNA test N/A
Cancer MOD/ Private risks of host and
pathogen
interactions
Breast and MOPH/ MHESI/ Hereditary Breast BRCA1/BRCA2 Guideline
Ovarian MOD/ Private and Ovarian Cancer
Cancer
Colon MOPH/ MHESI/ Lynch’s syndrome MLH1, MSH2, Guideline
Cancer MOD/ Private MSH6, PMS2

2. Undiagnosed Disease and Rare Disease

Rare diseases is defined as the diseases with incidence lower than 1
in 2,000 persons, but number of rare diseases are estimated at round 5,000 to
7,000 diseases, reaching up to 6–7 percent of the populations (Eurordis 2019).
Around 80 percentage of the rare diseases are caused by rare mutations (Eurordis
2019). Since the rare diseases are uncommon, the sign and symptoms of disease
are difficult to recognized. The diagnosis of rare diseases requires extensive
collection of phenotypic data and the genetic testing laboratory services. The health
care professionals need additional and specific training. Based on these reasons,
the diagnostics of rare diseases are limited to the university-based hospitals,
where the ecosystem allow for delivery of the complex health care. Because of
the need of extensive investment in term of human capital and equipment costs,
making these services looks expensive and usually failed the cost effectiveness
criteria. Laypersons are not usually having access to these services in Thailand.
The complication of inaccessible to necessary diagnostic care is that the outcomes

Surakameth Mahasirimongkol
Sacarin Bunbanjerdsuk 93

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