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Table 1 Landscape of polygenic score reports

From: Design and user experience testing of a polygenic score report: a qualitative study of prospective users

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
  1. Recommendations & Resources: ‘Y’ if the report included at least one statement describing medical recommendations or resources
  2. Sample report is the most current version (March 2021) which may not be identical to the report reviewed during the study
  3. #LD adjustments + threshold included both pruning and clumping LD adjustment approaches
  4. §ATM, BARD1 (if tested), BLM (if tested), BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC (if tested), NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11 (if tested), TP53
  5. ΔATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53
  6. High-penetrance breast cancer risk genes: BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53, ATM c.7271 T > G., and bi-allelic CHEK2
  7. *Color CAD report was available through a research study, which has now closed
  8. ‘Relevant ethnicities’ are described. However, reports are not restricted to individuals of these ancestries
  9. ¥Now available to women of all ancestries