Table 2 Characteristics of included studies (n = 19).

Harris et al., [31], USA

To assess the acceptability of integrating CF carrier testing into antenatal care by GPs at the first booking appt.

Questionnaires, interviews

Cystic fibrosis (Primary Care)

Carrier screening

n = 75

42 women in one group and 34 (cis) couples in the other.

Leventhal et al. 2012, USA

We explored primary care patients’ interest, attitudes, and preferences related to genomic testing and receipt of test results for common complex diseases.

Focus groups

Colorectal cancer (Primary Care)

SNP testing for colorectal cancer risk.

n = 24

62% female

Armstrong et al., [27], USA

The objective of the study was to investigate the factors associated with interest in BRCA1/2 testing among primary care patients receiving only limited information about testing.

Cross sectional Survey

Breast cancer (Primary Care)

Screening for BRCA 1/2

n = 242

All female

Williams et al., [28], USA

To compare group differences in familiarity. perceptions, and preferences for precision medicine.

Cross sectional Survey

(Primary Care)

Precision and personalised medicine

n = 252

35.5%/65.1%

Miller et al., [29], USA

To explore the expectations of patients or the PCP role once genetic test results are received

Semi-structured interviews

Breast/ovarian cancer or hereditary nonpolyposis colorectal cancer (Primary Care)

Genetic testing for BRCA1, BRCA2, HNPCC

Set 1: 25 Set 2: 21

Set 1: Females 22 Males 3; Set 2 Females 19 Males 2

Saya et al., [39], Australia

To explore informed decision-making and attitudes towards genomic testing to predict personal risk of colorectal cancer (CRC)

Quantitative: survey; Qualitative: interview

Colorectal cancer (Primary Care)

Colorectal cancer genomic test to predict personal risk of colorectal cancer

Quantitative: 135 Qualitative: 16

Qualitative: n = 12/4 Quantitative: n = 46/89

Silva et al., [38], UK

To explore patient and health professional experiences of introducing genetic testing with case finding for FH in primary care

Qualitative: Semi-structured interviews

Familial hypercholesterolaemia (FH)/(General practice)

Diagnostic genetic testing for familial hypercholesterolaemia

24 PCP, 17 PC Professionals

n = 11/13

Rogausch et al., [32], Germany

To explore patients and physicians’ perspectives on the potential implications of pharmacogenetic testing, and to analyse the possible determinants of their expectations

Cross-sectional study using telephone interviews

Pharmacogenetics (Primary Care

Pharmacogenetics

Patients, n = 196; GPs, n = 106

Patients: 55% female; GPs: 25% female

Hernandez et al., [33], Germany

Generate stakeholder input for a statewide strategic plan for genetic services in the southwestern region of the United States

Semi-moderated focus groups consumers and service providers

Rare genetic diseases (Primary Care)

Genetic screening

28 consumers and 38 service providers

n = 11/55

Poppelaars et al., [34], Germany

This qualitative study aimed to explore possibilities and barriers in the implementation of a nationwide preconceptional cystic fibrosis (CF) carrier screening programme.

Focus Groups

Cystic fibrosis (General practitioners and municipal health service workers)

Cystic fibrosis carrier screening

n = 46

n = 19/27

Teixeira et al., [36], France

To explore hereditary haemochromatosis (HH) patients’ perspectives on genetic information, namely the types of sources used, preferred or trusted.

Qualitative Online survey

Haemochromatosis (Primary Care)

Genetic screening

n = 895

n = 378/517

Middlemass et al., [44], Canada

To explore how patients who have had a recent conventional cardiovascular risk assessment, perceive additional information from genetic testing for CHD

Qualitative interview study

Cardiovascular disease (Primary Care)

Genetic testing for coronary heart disease

n = 119

n = 40/69

Haga et al., [42], Australia

To investigate patient experiences with pharmacogenetic (PGx) testing

Online Survey

Pharmacogenetics (Primary Care)

Pharmacogenetics

n = 63

n = 30/43

Hay et al., [43], Canada

We examined the level of interest in pursuing MC1R testing, and patterns of interest across skin cancer perceived threat and control attitudes, cultural beliefs

Online Survey

Skin cancers (Primary Care)

Genetic screening

n = 499

Not stated

Frigon et al., [41], Australia

To better understand the perceptions of PCPs, pharmacists and patients on the implementation of pharmacogenomic testing in clinical practice

Semi-structured focus group interviews

Pharmacogenetics (Physicians, pharmacists)

Pharmacogenetics

Patients n = 30, PCP n = 23, Pharmacist (n = 11)

Patients n = 9/21, PCP n = 6/17, Pharmacists n = 2/9

Wilde et al., [40], Australia

To qualitatively assess public understanding of, and attitudes towards, risk prediction involving susceptibility genes for depression based on 5–HTTLPR genotyping.

Focus Groups interviews

Psychiatric conditions (Primary Care)

Genetic screening

n = 36

n = 18/18

Vande Perre et al., [30], USA

To compare the expectations of the GPs’ role according to BRCA1/2 mutation carriers and to GPs themselves

Quantitative descriptive survey

Breast cancer (Primary Care)

Genetic testing (BRCA1/2)

n = 176

Not stated

Puryear et al., 2017, The Netherlands

To identify and compare patient and primary care provider (PCP) expectations of genetics services in primary care.

Mixed method: Quantitative: survey; Qualitative: interview

Multiple conditions (Primary Care)

Genetic screening

100 (quant); 20 (qual)

61% F (quant); 65% F (qual)

Helmes et al., [37], Germany

We conducted a study on women’s preferred physician involvement in the decision to obtain genetic testing for breast cancer risk.

Quantitative descriptive survey

Breast cancer (Primary Care)

Genetic testing for breast cancer risk

n = 340

100% female