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

of rare diseases are usually suboptimal, resulting in disability and unnecessary
mortality.

Precision medicine or Genomic Medicine is the integration of the advance
in sequencing technology into the clinical care. This integration is directly beneficial
to the increase diagnostic yield, in particular, the newborn who required intensive

care, neonatal intensive care unit (NICU) and pediatric patients who required
intensive care, pediatric intensive care unit (PICU) (Raymond et al., 2018). The
carrier screening for common genetic diseases also benefited from the advance
of next generation sequencing. Thalassemia screening is the prime examples of
changing from cascade screening to universal genotyping as screening tool, due
to the lower cost of universal genotyping compared with the cascade screening
approach.

3. Non-communicable diseases, NCDs

NCDs such as Diabetes, Hypertension, Coronary artery diseases, Stroke,
chronic kidney diseases (CKDs) and atrial fibrillation are the most common global
health problem in this NCDs category. Current approach to NCDs prevention
is emphasized on the population level interventions to reduce risk factors, for
example, the health promotion activities and sin tax to prevention of new tobacco
users, alcohol tax to reduce alcohol usage. Some of these health promotion
activities may be more effective when prioritization is necessary for the intensive
individual based intervention. The current individual based approach is in the
form of mobile based health intervention that focus on adjusting individual
lifestyles to prevent NCDs.

Familial Hypercholesterolemia is an example of a Mendelian form of
NCDs, caused by mutations in FH genes. Researchers estimated 70%-95% of
FH results from a heterozygous pathogenic variant in one of three genes (APOB,
LDLR, PCSK9). FH is the most common inherited cardiovascular disease, with a
prevalence of 1:200-250. FH likely accounts for 2%-3% of myocardial infarctions
in individuals younger than age 60 years. Those with heterozygous pathogenic
variants have higher LDL cholesterol than the general population. FH patients
usually present themselves with symptoms of coronary artery diseases, such as

chest pain, dyspnea or sudden death. Treatment to reduce the LDL-C level is
important to reduce coronary artery diseases in FH. FH is the only inherited
NCDs that US CDC recommends for the screening program in the populations.

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