Table 1.

Landscape of polygenic score reports

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

^†Recommendations & Resources: ‘Y’ if the report included at least one statement describing medical recommendations or resources

^‡Sample report is the most current version (March 2021) which may not be identical to the report reviewed during the study

^#LD adjustments + threshold included both pruning and clumping LD adjustment approaches

^§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

^ΔATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, TP53

^◊High-penetrance breast cancer risk genes: BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53, ATM c.7271 T > G., and bi-allelic CHEK2

^*Color CAD report was available through a research study, which has now closed

^➢ ‘Relevant ethnicities’ are described. However, reports are not restricted to individuals of these ancestries

^¥Now available to women of all ancestries