トクトミ トモハル   Tomoharu Tokutomi
  徳富 智明
   所属   川崎医科大学  医学部 臨床医学 小児科学
   職種   特任教授
論文種別 原著
言語種別 英語
査読の有無 査読あり
表題 Recontact: a survey of current practices and BRCA1/2 testing in Japan.
掲載誌名 正式名:Journal of human genetics
掲載区分国外
巻・号・頁 68(8),pp.551-557
著者・共著者 Tomohiro Sakaguchi,Tomoharu Tokutomi,Akiko Yoshida,Kayono Yamamoto,Keiko Obata,Daniele Carrieri,Susan E Kelly,Akimune Fukushima
担当区分 責任著者
発行年月 2023/08
概要 Genetic testing advances have enabled the provision of previously unavailable information on the pathogenicity of genetic variants, frequently necessitating the recontact of former patients by clinicians. In Japan, national health insurance coverage was extended to BRCA1/2 testing for the diagnosis of hereditary breast and ovarian cancer for patients who meet certain criteria in 2020, and conditions necessitating recontact were expected to increase. Studies and discussions regarding recontact have been conducted in the U.S. and Europe; however, in Japan, the national discussion around recontact remains undeveloped. We conducted a cross-sectional study by interviewing 73 facilities accredited by the Japanese Organization of Hereditary Breast and Ovarian Cancer regarding the practice of recontacting patients at these facilities. Sixty-six facilities responded that they recontact patients, but only 17 facilities had a protocol for this. The most common reason for recontact was that it could benefit the patient. Facilities that did not recontact stated that they lacked the necessary personnel or services. Most facilities indicated that a recontact system should be implemented in their practice. The increased burden on too few medical personnel, unestablished systems, patient confusion, and the right not to know were cited as barriers to implementing recontact. Although developing recommendations on recontact would be useful for providing equitable healthcare in Japan, there is an urgent need to deepen the discussion on recontacting, as negative opinions about recontacting patients were observed.
DOI 10.1038/s10038-023-01149-x
PMID 37072622