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Table 4 Review framework in Japan

From: Evaluating standards for ‘serious’ disease for preimplantation genetic testing: a multi-case study on regulatory frameworks in Japan, the UK, and Western Australia

Definition statement
Previous (2016) A serious disease is characterized by…
1. Symptoms that strongly impact daily life before adulthood
2. Symptoms that threaten survival before adulthood
Revised (2021) A serious disease is characterized by symptoms that, in principle…
1. Strongly impact daily life before adulthood;
2. Threaten survival before adulthood;
And in the case where treatment for the condition is…
1. Not available;
2. Available but highly advanced and invasive
Supplemental factors 1. Penetrance of symptoms
2. Predicted age of onset of symptoms in the child
3. Predicted degree of severity of symptoms in the child
4. Number of family members that have the condition
5. Degree of severity of symptoms of family members that have the condition
6. Possibility of treatment
Exceptional cases Regarding cases with which the JSOG has had no previous review experience, an opinion form from an expert organization (clinical or genetic) must be submitted, which includes…
1. Evaluation from a medical perspective (accuracy of the test, standard of disease severity)
2. Consideration of the circumstances and opinions of those seeking treatment