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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