Table 2.

Studies’ characteristics (ordered per research method and year).

AUTHOR	YEAR	TITLE	COUNTRY	CONDITION	RESEARCH METHOD	DATA COLLECTION	POPULATION	SAMPLE CHARACTERISTICS	RECEIVED THEIR PRS	RECEIVED COUNSELING
Smit et al. [31]	2021	Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross-sectional survey of health professionals.	Australia, Canada, USA	Cancer, General	Mixed method	Cross sectional survey	HPs (N = 105)	1) Genetic counselors (84%); 2) oncologists (6%); 3) clinical geneticists (4%); 4) other (7%)	N/A	N/A
Saya et al. [41]	2022	Informed choice and attitudes regarding a genomic test to predict risk of colorectal cancer in general practice	Australia	Cancer, Colorectal	Mixed method	Questionnaire + semi-structured interviews	Patients (N1 = 150; N2 = 16)	General practice patients	YES	YES
Young et al. [36]	2017	Making Sense of SNPs: Women’s Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks	Australia	Cancer, Breast	Qualitative	Semi-structured interviews	Patients (N = 39)	Diagnosed patients who received a negative BRCA1/2 result	YES	YES
Forrest et al. [39]	2019	High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information	Australia	Cancer, Breast	Qualitative	Semi-structured interviews	Patients (N = 39)	Patients with personal and family history of breast and ovarian cancer with no pathogenic variant in high BC risk genes	YES	YES
Yanes et al. [35]	2020	Women’s responses and understanding of polygenic breast cancer risk information	Australia	Cancer, Breast	Qualitative	Semi-structured interviews	Patients (N = 21)	Diagnosed and unaffected patients with family history of BC and no pathogenic variant in high-moderate BC risk genes	YES	YES
Putt et al. [40]	2020	Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder	Australia	Psychiatric Disorders	Qualitative	Semi-structured interviews	Patients (N = 18)	Diagnosed patients of white European ancestry (based on genetic principal components analysis), fluent English speakers	YES	YES
Sierra et al. [49]	2021	Exploring Implementation of Personal Breast Cancer Risk Assessments	Australia	Cancer, Breast	Qualitative	Focus group	Public, patients (N = 31)	1) Unaffected women; 2) unaffected women with a strong family history of BC but no familial BRCA1 or BRCA2 pathogenic variant; 3) unaffected women with a pathogenic variant in either the BRCA1 or BRCA2 genes	NO	NO
Woof et al. [55]	2021	Introducing a low-risk breast screening pathway into the NHS Breast Screening Program: Views from healthcare professionals who are delivering risk-stratified screening.	United Kingdom	Cancer, Breast	Qualitative	Focus group; Semi-structured interviews	HPs (N = 28)	HPs working in breast screening and primary care	N/A	N/A
Willis et al. [38]	2021	Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: ‘Another piece of the pie’.	Australia	Cancer, Breast	Qualitative	Semi-structured interviews	Patients (N = 40)	Unaffected women with family history of BC	YES	YES
Lewis et al. [33]	2022	Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization	United States	General	Qualitative	Semi-structured interviews	1) Patients (n = 25); 2) HPs (n = 21)	1) Patients enrolled in biobank. Self-reported ancestry: Asian, Black, Hispanic/Latinx, White; 2) Primary Healthcare Providers	NO: received a mock report; N/A	NO; N/A
Terek et al. [43]	2022	Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children.	United States	T2D; Asthma; Obesity	Qualitative	Semi-structured interviews	Parents (N = 40)	Parents/legal guardians of children enrolled in research institution/biobank. Self-reported ancestry: Black/African American or Hispanic	NO: received a mock report	NO
Suckiel et al. [44]	2022	Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.	United States	General	Qualitative	Semi-structured interviews	Patients (N = 30)	Biobank patients. Self-reported ancestry: African, African American, or Black (AA) or as Hispanic/Latinx (H/L), and at least half reporting Spanish as their preferred language.	NO	NO: were presented with a digital educational module before interview
Riddle et al. [34]	2023	The role of polygenic risk scores in breast cancer risk perception and decision-making	United States	Cancer, Breast	Qualitative	Semi-structured interviews	Patients (N = 24)	Unaffected patients with family history of BC and no pathogenic variant in high-moderate BC risk genes	YES	YES
Pacyna et al. [50]	2023	Examining the Impact of Polygenic Risk Information in Primary Care	United States	General	Qualitative	Semi-structured interviews	Patients (N = 19)	Primary care patients	NO	NO
Laza-Vasquez et al. [37]	2022	Feasibility and Acceptability of Personalized Breast Cancer Screening (DECIDO Study): A Single-Arm Proof-of-Concept Trial	Spain	Cancer, Breast	Quantitative	Questionnaire	Patients (N = 387)	Women who did not receive a previous diagnosis of breast cancer, or were undergoing a breast study, or fulfilled clinical criteria for cancer-related genetic counseling	YES	YES
Pereira et al. [32]	2022	Psychiatric polygenic risk scores: Child and adolescent psychiatrists’ knowledge, attitudes, and experiences.	United States	Psychiatric Disorders	Quantitative	Survey	HPs (N = 960)	Child and adolescent psychiatrists	N/A	N/A
Hollit et al. [48]	2022	Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals	Australia	Glaucoma	Quantitative	Survey	Patients and Public (N = 193)	1) Unaffected first- degree relatives of individuals with a known glaucoma diagnosis; 2) optometry patients; 3) members of the general community without an ocular health history	NO	NO
Lapointe et al. [47]	2022	Polygenic risk scores and risk-stratified breast cancer screening: Familiarity and perspectives of health care professionals	Canada	Cancer, Breast	Quantitative	Survey	HPs (N = 453)	Physicians (22.3%) and nurses (69.75) working in family medicine or oncology or other fields of medicine	N/A	N/A
Kamp et al. [45]	2022	Clinicians’ Perceptions towards Precision Medicine Tools for Cardiovascular Disease Risk Stratification in South Africa.	South Africa	Cardiovascular Diseases	Quantitative	Survey	HPs (N = 109)	Consultant clinicians with specialization in internal medicine, e.g.: cardiology, endocrinology (19.,3%) or non-internal medicine (52.3%) e.g.: pediatrics, clinical genetics; Trainees (24.8%)	N/A	N/A
Venning et al. [54]	2022	Preferences for a polygenic test to estimate cancer risk in a general Australian population	Australia	Cancer, General	Quantitative	Survey	Public (N = 1002)	General adult population	NO	NO
Ayoub et al. [46]	2023	Risk-Stratified Breast Cancer Screening Incorporating a Polygenic Risk Score: A Survey of UK General Practitioners’ Knowledge and Attitudes.	United Kingdom	Cancer, Breast	Quantitative	Survey	HPs (N = 109)	General practitioners	N/A	N/A
Moorthy et al. [52]	2023	How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia?	United States	Psychiatric Disorders	Quantitative	Survey	HPs (N = 276)	1) Researcher in the field of mental and behavioral health (84.8%); 2) Psychiatrist providing direct patient care (12%); 3) Genetic counselor providing direct patient care (1%); 4) Other mental health professional (2.2%)	N/A	N/A
Vassy et al. [53]	2023	Perceived benefits and barriers to implementing precision preventive care: Results of a national physician survey.	United States	General	Quantitative	Survey	HPs (N = 367)	Primary Care Providers practicing family medicine, general practice, or internal medicine	N/A	N/A
Casauria et al. [42]	2023	Australian parental perceptions of genomic new-born screening for non-communicable diseases.	Australia	General	Quantitative	Survey	Parents (N = 40)	Parents with at least one-born child under 18 years	NO	NO