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. 2022 Oct 3;31(9):1048–1056. doi: 10.1038/s41431-022-01196-6

Table 1.

Findings reported and proportions of participants receiving high-risk information.

Section of the report How many received this info High risk reported
N % N %
PRS and overall risk for T2D 2916 98.6 569** 19.5
PRS for CHD and MI 2916 98.6 559 19.2
Early onset menopause PRS* 2080 70.3 443 21.3
Thrombophilia (F5, F2) 2532 85.6 125 4.9
α1-antitrypsin deficiency 2531 85.6 92 3.6
Carrier (cystic fibrosis) 653 22.1 11 1.7
Carrier (Wilson disease) 2279 77.1 25 1.1
Lactose intolerance associated genotype 2956 100 786 26.6
Exfoliation glaucoma risk 2956 100 821 27.8
ACMG findings (HBOC, CRC) 666 22.5 22 3.3
Pharmacogenomics 2894 97.9 2834 97.9

*Women only; **T2D PRS only

PRS polygenic risk score, T2D type 2 diabetes, CHD coronary heart disease, MI myocardial infarction, F5 factor V, F2 factor II, ACMG American College of Medical Genetics and Genomics, HBOC hereditary breast and ovarian cancer, CRC colorectal cancer.