Clinical OMICS

SEP-OCT 2018

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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Page 42 of 51 September/October 2018 Clinical OMICs 41 Genomics England, the U.K. Department of Health entity created to run the 100,000 Genomes Project, delivered an upbeat progress report in July, disclosing it had sequenced 71,095 whole genomes, and was "well on track" to reach its goal of 100,000 genomes by year 's end. The project takes its name from the 100,000 whole genomes it has committed to sequencing from around 70,000 National Health Services (NHS) patients; the update coincided with the NHS' 70 th anniversary. According to Genomics England, the Project "has provided the evidence NHS England needs to embed genome sequencing in routine care" through the Genomic Medicine Service (GMS) set to launch in October 2018. Laying a foundation for GMS was among the goals of the project, as were enabling new scientific and medical discoveries, and kick starting the development of a U.K. genomics industry. The Project uses Illumina services for whole genome sequencing secured through £78 million ($102.4 million) that Genomics England agreed to pay in 2014. Illumina agreed to contribute about £162 million ($212.7 million) toward tools and technologies, and has separately partnered with Genom- ics England to develop and deliver systems for clinical inter- pretation, decision support, and knowledge curation. Other funding includes £27 million ($35.5 million) from The Well- come Trust toward the sequencing hub at its Genome Cam- pus near Cambridge, U.K.; £24 million ($31.5 million) from the U.K. Medical Research Council for computing infrastruc- ture; and up to £20 million ($26.3 million) from the NHS. 100,000 Genomes Project UNITED KINGDOM Since 1972, Japan has defined some rare diseases using the phrase "Nan-Byo," a combination of the words "difficult" and "illness." However, the classification does not apply to medically unidentified conditions—a challenge the Japan Agency for Medical Research and Development (AMRD) is seeking to address through its Initiative on Rare and Undi- agnosed Diseases (IRUD). Launched in 2015, IRUD is a nationwide medical research consortium that grew to more than 2,000 undi- agnosed registrants by December 2016, according to a study published last year in the European Journal of Human Genetics. The consortium is designed to enable primary healthcare clinics to collaborate with more than 400 hospitals including 34 IRUD Clinical Centers, where complex cases can be reviewed by multi-disciplinary IRUD Diagnosis Committees of medical specialists and clinical geneticists. In addition to the clinical centers and committees—which are supported by about 500 physi- cians and 50 coordinators—IRUD includes four analysis centers and a data center. IRUD has been funded annually at between ¥600 million Initiative on Rare and Undiagnosed Diseases JAPAN (continued on next page) BraunS / Getty Images

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