Attitude to extended use and long‐term storage of newborn screening blood spots in Japan

Background: Residual dried blood spots (DBS) remaining after routine newborn screening (NBS) tests are candidate specimens for extended uses such as quality assurance and the development of new technology. A trial of NBS using tandem mass‐spectrometry was launched in 2004 in Japan. The aim of the present study was to analyze the attitudes of the public, patient families, and medical professionals toward the extended use and long‐term storage of residual DBS, and to construct a standardized informational brochure. Methods: A questionnaire was sent to randomly selected members of the public, members of the Japanese Phenylketonuria (PKU) Association, medical staff of a general hospital, staff of a children's hospital, obstetricians and gynecologists, pediatricians and NBS personnel. Associated responses, which were given in a free comment format, were analyzed by text mining. Results: The awareness ratio of NBS was low in the public (26.6%), but despite this, when a brief explanatory note on NBS was provided, 71.7% of them recognized the necessity of NBS. They were less positive than medical professionals and PKU patient families regarding the extended use of DBS for forensic investigation, for the study of health problems, or long‐term storage of residual DBS, regardless of whether these factors affected them personally or not. Among the medical professionals, obstetricians and pediatricians exhibited a higher ratio of negative responses toward the extended use and long‐term storage of DBS than others. Conclusion: The general public is more conservative than PKU patients and their families or medical professionals about the extended use or long‐term storage of residual DBS. Presentation to the public, particularly to couples of childbearing age, of appropriate explanatory information on NBS itself, or the extended use or long‐term storage of residual DBS, is recommended.