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Approval of genetic diagnosis and counseling at Kobe City Eye Hospital for inherited retinal dystrophy

September 3, 2021

An Advanced Medical Care B *1 notification was issued regarding genetic diagnosis and counseling at Kobe City Eye Hospital for inherited retinal dystrophy, and it was approved at the Advanced Medical Care Conference held on September 2, 2021 (hosted by MHLW). The necessary procedures will be performed as preparations continue for a start during or after October, and they are aiming for it to be covered by insurance in the future.

Inherited retinal dystrophy

This is a group of diseases where genetic mutations cause retinal functions to become progressively impaired, with retinitis pigmentosa being a representative example. It is a hereditary progressive disease that starts with symptoms like nyctalopia (difficulty seeing things in dark places) and tunnel vision (narrowed field of view), and in some cases, it can lead to a loss of vision.

Genetic diagnosis and counseling for inherited retinal dystrophy

Performing genetic tests for patients with inherited retinal dystrophy to identify the causative genes, it will be possible to provide information on appropriate low-vision care *2 in combination with genetic counseling and creating treatment plans. This is expected to contribute to QOL improvements through preparations for starting school or work, for family planning, etc., for patients with a clear risk of developing symptoms.

Based on a Comprehensive Collaboration Agreement signed with Sysmex Corporation in February 2020, these tests will be performed by Sysmex Corporation and a related corporation (RIKEN GENESIS Co., Ltd.).

*1 Advanced Medical Care B: Advanced Medical Care refers to new, experimental medical technology that has not been evaluated in terms of effect, safety, etc., and that the MHLW has designated as a medical technology for which the efficacy and safety will be evaluated in order to judge whether the technology can be covered by insurance in the future.
This group is divided into Advanced Medical Care A, which refers to medical technology that does not use pharmaceuticals or medical devices that are unapproved or not covered by insurance, and Advanced Medical Care B, which does use such pharmaceuticals or medical devices.

*2 Low-vision care: This is the wide range of support provided to individuals whose daily lives are affected by a visual impairment, and it includes introducing solutions and devices for improving vision, holding consultations and providing various information that covers their future and work, using welfare systems, etc.