Introduction
Genetic screening is a type of genetic testing that is designed to
identify a specified population at a higher risk of having or developing
a disease with the aim of prevention or early treatment (Andermann &
Blancquaert, 2010). Generally, genetic screening is performed as
targeted testing for known hotspot variations.
The development of next-generation
sequencing (NGS) techniques has introduced a new genomic era by
producing massive genomic data and reducing costs. Recently, the Genome
Aggregation Database (gnomAD,
https://gnomad.broadinstitute.org/) has been constructed as a very large
database that contains genomic information of the general population
worldwide (Karczewski et al., 2020; Lek et al., 2016).
Several companies have launched
proactive genetic testing for generally healthy individuals without a
personal or family history using NGS techniques for identifying
particular genes or performing whole exome/genome sequencing that is not
confined to hotspot variations.
At present, major questions are how genomic information of a generally
healthy population reflects probabilities of developing diseases and the
differences in those probabilities among ethnic groups. Additional
questions are the use of genetic testing to provide useful and crucial
information and eventually prevent diseases in healthy individuals. To
answer these questions, genomic data associated with congenital
hypothyroidism, which is one of the major achievements of preventive
medicine (Buyukgebiz, 2013), were analyzed based on the general
population database and their carrier frequency and genetic prevalence
were estimated by ethnicity.