1. Target gene panel: A gene set which is designed to analyze the mutation, proliferation and fusion of multiple genes having diagnostic significance. The simultaneous analysis of the mutation, fusion and proliferation of multiple genes provides reference information that can be useful in determining treatment regimens for cancer patients, such as with the selection of anti-cancer drugs.
2. Rare diseases: A general term referring to diseases that affect a small number of people. Concepts of disease rarity differ by country. In Japan, the concept of rare diseases is established by the Minister of Health, Labour and Welfare, who sets as a condition for drugs for rare diseases those diseases that “affect fewer than 50,000 patients in Japan.” Rare diseases are thought to be genetic for around 80% of patients. Physicians tend to have little experience with such diseases, as they are highly rare, making diagnosis difficult. However, many diseases can be diagnosed through gene testing.
3. Source (Japanese only): “Status and Issues Related to Genomic Medicine,” Ministry of Health, Labour and Welfare
4. Project to Create an Integrated Database for Clinical Genome Information: Based on the Interim Guidelines of the Japanese government’s Council for Promoting Genomic Medicine (July 2015), AMED began building a database combining clinical and genetic information that might be used in clinical and research settings by verifying relationships between genomic information, disease characteristics and clinical characteristics among Japanese people, and began pursuing advanced R&D that would use this research foundation in an integrated manner.
Source: AMED website (Japanese only)
In the fiscal 2016 Project to Create an Integrated Database for Clinical Genome Information, at the University of Tokyo the project adopted Professor Hiroyuki Mano’s theme of “Establishment of a Large-Scale Genomic Medicine Framework and Construction of a Knowledge Database” and Professor Shoji Tsuji’s theme of “Creation of an Integrated Database for Clinical Genomic Information in the Field of Rare and Intractable Diseases.”
5. Clinical sequence testing: The type of testing which analyzes genetic information of patients with a high degree of precision by using the next-generation sequencer with the purpose of diagnosis and treatment methods selection.
6. CLIA certified lab: The lab certified in accordance with the U.S. Clinical Laboratory Improvement Amendment (CLIA). CLIA labs are required to undergo periodic inspections to ensure quality maintenance. Being registered as a CLIA lab certifies quality control for testing.