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Page 2 of 3 Qin J Transl Genet Genom 2019;3:10. I https://doi.org/10.20517/jtgg.2019.05

cytomegalovirus infection. To establish the diagnosis definitively, a high-throughput targeted exome
sequencing was performed, which was used to make the diagnosis of LAD-I. Moreover, the authors have
demonstrated that the early diagnosis of immunodeficiency was essential for optimal management such as
hematopoietic stem cell transplantation and rehabilitation outcomes.

In the article “Challenges in implementing genomic medicine: the 100,000 Genomes Project”, Barwell
[4]
et al. evaluated the value of genomic testing in the diagnosis of rare inherited disease in recent years,
particularly in presentations when one of a large number of candidate genes may underlie that individual
patient’s phenotype. The 100,000 Genomes Project aims to change the way patients are diagnosed as well
as how personalized treatments and cascading of risk information is carried out. Many important medical
conditions may be the result of an inherited mutation in one of a number of different genes. Technical
advances have reduced the cost of whole genome sequencing and whole exome sequencing to a level where
it is now feasible to analyze multiple genes in one test. Every human carries several hundred potentially
pathogenic coding variants, so a major challenge is to understand which of these is relevant to the patient’s
disease. Data collected from the 100,000 Genomes Project provide useful information to researches on rare
diseases and will thus benefit patient care potentially by streamlining the diagnostic process and tailoring
care to the individual.

Finally, the special issue of Personalized Genomic Medicine included studies of mental disorder, neurological
disease, chronic kidney disease, cancer etc., which explored the genomics testing and gene therapy of
individualized clinical treatments. Genomics is progressing from “bench to bedside”, which may greatly
[5,6]
help us to understand disease mechanisms and identify drug targets once the mutations are found .
Studies of the special issue of Personalized Genomic Medicine reported with combination of genomics and
pharmacogenomics testing, gene therapy or other treatment modalities such as stem cell manipulation or
xenografts. The field of personalized medicine is experiencing significant expansion. As pointed out by the
“Precision Medicine Initiative”, it calls for continuous development of personalized medicine which will help
patients to receive better treatments using their individual genome characteristics.

DECLARATIONS
Authors’ contributions
The author contributed solely to the article.

Availability of data and materials
Not applicable.

Financial support and sponsorship
None.

Conflicts of interest
The author declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2019.