Company, country | Report(s) reviewed | Initiating stakeholder | Report medium | Eligibility criteria | Numeric risk estimate | Risk description | Colors used | Recommendations and resources† | Score type, No. SNPs‡ | Sample report‡ Score/product development |
---|---|---|---|---|---|---|---|---|---|---|
Clinical | ||||||||||
Ambry Genetics, USA | Breast cancer | Clinician | PDF supplement to clinical report | 1. Female biological sex 2. 18–84 years old 3. Non-Ashkenazi Jewish, Northern European ancestry 4. No personal history of cancer (excluding non-melanoma skin cancer) 5. No personal history of atypical hyperplasia or lobular carcinoma in situ (LCIS) 6. No personal or family history of a mutation in a breast cancer susceptibility gene§ | Absolute lifetime risk (percentage) | Average/increased risk | Pink/grey | Y | LD adjustments + threshold# 100 SNPs | 22, 25 |
Ambry Genetics, USA | Prostate cancer—unaffected | Clinician | PDF supplement to clinical report | 1. Male biological sex 2. 18–84 years old 3. Northern European ancestry 4. No personal or family history of a mutation in a prostate cancer susceptibility geneΔ | Absolute lifetime risk (percentage) | Average/increased risk | Blue/grey | Y | LD adjustments + threshold# 72 SNPs | 23, 26 |
Ambry Genetics, USA | Prostate cancer—affected | Clinician | PDF supplement to clinical report | 1. Male biological sex 2. 18–84 years old 3. Northern European ancestry 4. No personal or family history of a mutation in a prostate cancer susceptibility geneΔ | Odds ratio | Average/increased risk | Blue/grey | Y | Pruning + Thresholding 72 SNPs | 24, 26 |
Myriad Genetics, USA | Breast cancer | Clinician | PDF supplement to clinical report | 1. Woman under age 85 2. European and Ashkenazi Jewish ancestry 3. No personal history of breast cancer, LCIS, hyperplasia, atypical hyperplasia, or a breast biopsy with unknown results 4. The woman does not have a mutation in a breast cancer gene (excluding monoallelic CHEK2) 5. The woman’s relatives have not been found to have a mutation in a high-penetrance breast cancer risk gene◊ | Absolute lifetime risk (percentage) | Average/above average risk | Pink/grey/orange | Y | LD adjustments + threshold# 86 SNPs | 21, 27, 28 |
Research | ||||||||||
Scripps, USA | Coronary artery disease | Consumer | Direct to consumer smartphone application | None | Percentile | Low/intermediate/high genetic risk | Blue/red | Y | LD adjustments + threshold# 57 SNPs | 29 |
Color Health, USA | Coronary artery disease * | Consumer or clinician | Online consumer portal (data saved) | None | Percentile | Less/more genetic risk | Blue | Y | LD-Pred 6,630,150 SNPs | 30–32 |
Gene Plaza, Belgium | Many (selected: diabetes diagnosed by a doctor) | Consumer | Website | None | None | Highly below average/below average/average/above average/highly above average | Green | N | Not publicly reported | 33 |
Impute.me, Denmark | Many (selected: coronary artery disease) | Consumer | Website | None | Z-score | Varied e.g. “This is a lower score than the average person” | Purple | N | "Top SNP" 75,028 SNPs | 34, 35 |
23andMe, USA | Many (selected: coronary artery disease) | Consumer | Online consumer portal (data saved) | None➢ | Absolute risk (%) until age 80 | Typical likelihood/increased likelihood | Multi | Y | LD adjustments + threshold# > 2400 SNPs | 36, 37 |