JMA Journal

Table 1. Questionnaire Items.

From: A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants

Timing of survey	QS1	QS2	QS3	QS4	QS5
Timing of survey	Seminar invitation	Informed consent	Return of genomic results	6 months from QS3	12 months from QS3
K6	●	●	●	●	●
POMS-2		●	●	●	●
IES-R			●	●	●
Knowledge about PGx	●	●	●
Intent of participation	●			●
Satisfaction with participation			●	●	●

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Table 2. Genes and Drugs Eligible for Disclosure.

From: A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants

Gene	Drug	CPIC guidelines	CPIC level	PharmGKB level of evidence	FDA-approved drug label
MT-RNR1 m.1555	Aminoglycosides
CYP2C19	Clopidogrel	Yes	A	1A	Actionable
	Voriconazole	Yes	A	1A	Actionable
	Lansoprazole	Yes	A	1A	Informative
	Omeprazole	Yes	A	1A	Actionable
NUDT15	Azathioprine	Yes	A	1A	Testing recommended
	Mercaptopurine	Yes	A	1A	Testing recommended

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Table 3. Age and Sex Distribution.

From: A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants

Age group	Male	Female
20–29	0	0
30–39	7	8
40–49	8	8
50–59	12	19
60–69	14	23
70–79	23	30
80–89	6	2
90–99	0	1
Total	70	91

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Table 5. Profiles of the MT-RNR1 m.1555A > G Variant Carriers.

From: A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants

Case ＃	Age	Sex	Genotype	Presence of hearing loss
Case ＃	Age	Sex	Genotype	Study participant	Families
1	70s	Female	Homoplasmy	Yes	Yes
2	70s	Female	Homoplasmy	No	Yes
3	70s	Female	Heteroplasmy	No	No

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