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Chu et al. J Transl Genet Genom 2022;6:290-303  https://dx.doi.org/10.20517/jtgg.2022.02  Page 292

               Table 1. Examples of large-scale genomic projects with target size larger than 20,000 genomes include patients with rare and
               undiagnosed diseases
                                                                                      Genomic sequencing
                Country  Project/institute name  Target size  Years active     Status
                                                                                      modality
                Australia  Australian Genomics Health   > 25,000  2016-ongoing  Active  Depending on the flagship
                         Alliance i                                                   projects
                Australia  Genomics Health Futures   200,000  2018-ongoing (targeted   Active  Depending on the projects
                              ii
                         Mission                          completion in 2028)
                China    China Precision Medicine   100,000,000  2015-ongoing (targeted   Active  WGS
                              iii
                         Initiative                       completion in 2030)
                Denmark  Danish National Genome   60,000  2021-ongoing (targeted   Active  WGS
                             iv
                         Center                           completion in 2024)
                France   France Genomic Medicine 2025 v  235,000 per   2015-ongoing (targeted   Active  WGS/WES/RNA seq
                                              annum       completion in 2025)
                Hong Kong  Hong Kong Genome Project vi  50,000  2021-ongoing (targeted   Active  WGS
                                                          completion in 2026)
                Japan    GEnome Medical alliance Japan vii  Nationwide  2018-ongoing  Active  WGS
                Saudi Arabia Saudi Human Genome   100,000  2018-ongoing (targeted   Active  WGS/WES/panel
                              viii
                         Program                          completion in 2030)
                                           ix
                Thailand  Genomics Thailand Initiative  50,000  2019-ongoing (targeted   Active  WGS/WES/Microarray
                                                          completion in 2024)
                Turkey   Turkish Genome Project x  100,000  2017-ongoing (targeted   Active  WGS
                                                          completion in 2023)
                United   100,000 Genomes Project xi  100,000  2013-2018        Completed WGS
                Kingdom
                United   Our Future Health xii  5,000,000  2020-ongoing        Active  Depending on the projects
                Kingdom
                United States NHGRI Centers for Mendelian   Nationwide  2011-ongoing  Active  Depending on the projects
                               xiii
                         Genomics
                United States NIH Undiagnosed Diseases   Nationwide  2008-ongoing  Active  WES/Microarray
                              xiv
                         Program
               NHGRI: National Human Genome Research Institute; NIH: National Institutes of Health; RNA Seq: RNA sequencing; WES: whole-exome
                                                         i
               s e q u e n c i n g ;   W  G S :   w  h o l e - g e n o m  e   s e q u e n c i n g .    h t t p s : / / w  w  w  . a u s t r a l i a n g e n o m  i c s . o r g . a u / o u r - h i s t o r y /   a n d
                                                                ii
               https://www.sciencedirect.com/science/article/pii/S0002929719302289;  https://www.health.gov.au/initiatives-and-programs/genomics-
               h e a l t h - f u t u r e s - m  i s s i o n ;    i i i  h t t p s : / / w  w  w  . s c i e n c e d i r e c t . c o m  / s c i e n c e / a r t i c l e / p i i / S 0 0 0 2 9 2 9 7 1 8 3 0 4 2 2 1    a n d
               h  t  t  p  s  :  /  /  w  w  w  .  n  c  b  i  .  n  l  m  .  n  i  h  .  g  o  v  /  p  m  c  /  a  r  t  i  c  l  e  s  /  P  M  C  7  6  5  7  9  4  9  /  ;     i  v
                                                                                                         v
               https://eng.ngc.dk/Media/637614364621421665/Danish%20Strategy%20for%20personalised%20medicine%202021%202022.pdf;
                                                                                                         v  i
               h  t t p  s  : /  /  s  o  l i d  a  r i t e  s  -  s  a  n  t e  . g  o  u  v  . f r /  I M  G  /  p  d  f /  g  e  n  o  m  i c  _  m  e  d  i c  i n  e  _  f r a  n  c  e  _  2  0  2  5  . p  d  f ;
               https://www.fhb.gov.hk/download/press_and_publications/otherinfo/200300_genomic/SCGM_report_en.pdf;   vii
               https://www.amed.go.jp/en/aboutus/collaboration/ga4gh_gem_japan.html and https://www.ga4gh.org/news/gem-japan-releases-largest-
                                                  viii                       ix
               ever-open-access-japanese-variant-frequency-panel/;  https://shgp.kacst.edu.sa/index.en.html;  https://www.nature.com/articles/d42473-
                                                              x
               020-00211-y and https://genomicsthailand.com/Genomic/Activities;  https://www.bbmri-eric.eu/news-events/turkish-genome-project-
                                                                 xi
               launched/ and https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606892/;  https://www.nejm.org/doi/full/10.1056/NEJMoa2035790 and
                                                                    xii
               https://www.genomicsengland.co.uk/the-100000-genomes-project-by-numbers/;  https://ourfuturehealth.org.uk/research-programme/ and
               https://www.gov.uk/government/publications/genome-uk-2021-to-2022-implementation-plan/genome-uk-2021-to-2022-implementation-
                   xiii                                                                                  xiv
               plan;  https://www.nih.gov/news-events/news-releases/nih-genome-sequencing-program-targets-genomic-bases-common-rare-disease;
               https://www.genome.gov/Current-NHGRI-Clinical-Studies/Undiagnosed-Diseases-Program-UDN
               Besides the lack of access to well-trained clinical laboratory and healthcare professionals, the Asian socio-
               cultural beliefs of families and genetics are also major impediments in the Asian region such as
                        [10]
                                  [11]
                                                  [12]
               Singapore , Malaysia  and Hong Kong . Perceived difficulties and inadequateness do not only originate
               from patients. Studies also showed that frontline clinicians felt unequipped to make accurate referrals [13-15] . A
               recent local study on the attitudes and clinical practices of primary care physicians (PCPs) showed that 68%
               (104/151) of the surveyed PCPs in both public and private service organisations did not know the referral
               pathway for patients with suspected or confirmed genetic disorders .
                                                                       [16]
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