Table 1. Study characteristics.
| First authorref. | Country | Population (n) | Genomic test | Study design | Aim |
|---|---|---|---|---|---|
| Bakos12 | USA | Family members (13) | BRCA1/2 | Qualitative | Explore the experience of being a mutation-negative woman from a BRCA1/2-positive family |
| Bernhardt13 | USA | Patients, family members (119) | HHT | Mixed methods | Identify barriers to genetic testing for HHT |
| Birmingham48 | USA | Physicians, family members (47) | Prostate cancer SNPs | Mixed methods | Examine attitudes, knowledge, and intentions regarding genomic testing for prostate cancer |
| Bollinger14 | USA | Public (89) | WG/ES in research | Qualitative | Understand the public's preferences regarding returning IRRs |
| Cornelis25 | Netherlands | Family members (34) | Pediatric WES | Qualitative | Gain insight about parents' preferences for return of results from their child's WES |
| Daack-Hirsch26 | USA | Public (63) | Genomic testing | Qualitative | Understand the public's attitudes toward secondary variants |
| Facio27 | USA | Genome research participants (313) | WGS in research | Mixed methods | Examine motivators for participating in WGS research |
| Facio28 | USA | Genome research participants (311) | WGS in research | Mixed methods | Learn the relative perceived value of different types of WGS results |
| Fox29 | Canada | Patients (112) | BRAC1/2 | Mixed methods | Explore when patients with ovarian cancer would prefer to have genetic testing and why |
| Giordimaina30 | USA | Public (755) | Smoking susceptibility | Mixed methods | Examine motivators for learning smoking susceptibility |
| Goh31 | Australia | Patients, family members (60) | HD | Mixed methods | Understand the relationship between HD testing and genetic discrimination |
| Gooding32 | USA | Family members (60) | Alzheimer's disease | Qualitative | Explore the use of genetic testing as a coping method |
| Hayeems33 | Canada | Family members (21) | CMA | Qualitative | Explore parents' experiences with CMA for their child, including how they make meaning of results |
| Henneman49 | Netherlands | Public (1308) | Genomic testing | Quantitative | Explore the public's attitudes and beliefs toward genomic testing |
| Hoskins34 | USA | Patients (3) | BRCA1/2 | Qualitative | Describe the experiences of women undergoing BRCA1/2 testing during a developmental period |
| Levenseller35 | USA | Physicians, patients, family members (49) | Pediatric WES | Qualitative | Assess stakeholder views regarding pediatric WES, preferences for the consent process, and involvement of adolescents in decision-making |
| Lewis36 | USA | Genome research participants (29) | WGS in research | Mixed methods | Assess impact of WGS results |
| Lupo52 | USA | Genome research participants (202) | WGS in research | Quantitative | Investigate patients' expected utility of WGS |
| Meisel37 | UK | Public (18) | FTO gene testing | Qualitative | Explore reactions to FTO results to establish potential benefits |
| Neumann50 | USA | Public (2223) | Predictive tests | Quantitative | Investigate peoples' willingness-to-pay for predictive genomic testing |
| Reiff38 | USA | Family members (57) | CMA | Mixed methods | Explore how parents use information from CMA testing of children with Autism |
| Roberts51 | USA | Family members (206) | Alzheimer's disease | Quantitative | Examine the motivators and demographic variables that predict AD genetic testing |
| Shostak15 | USA | Family members, patients (40) | Epilepsy | Qualitative | Explore the understanding and perceived risks, and benefits of genomic testing for epilepsy |
| Steinberg39 | USA | Family members (24) | Hearing loss | Qualitative | Examine parental attitudes toward genomic testing for hearing loss |
| Van Der Zwaag40 | Netherlands | Physicians and organization representatives (12) | MODY | Qualitative | Assessed experts' views about factors influencing current practice of genetic testing for MODY |
| Vayena41 | Switzerland | Scientists (70) | DTC testing | Mixed methods | Explore attitudes, motivations, and impact of DTC genomic testing |
| Williams42 | USA | Patients, family members (74) | HD | Mixed methods | Explore the personal characteristics and beneficial experiences reported by people at risk for HD |
| Wright43 | USA | Genome research participants (39) | WGS in research | Qualitative | Explore in-depth expectations of WGS findings and preferences for returning them |
| Yu45 | USA | Public (41) | WG/ES | Qualitative | Understand attitudes and beliefs of African Americans toward WG/ES results |
| Yu44 | USA | Public (35) | WG/ES | Qualitative | Understand attitudes and beliefs of non-African Americans toward WG/ES results |
| Zarate46 | USA | Genome research participants (34) | WG/ES | Qualitative | Explore research participants' understanding of consent documents including the risks and benefits of genome sequencing. |
Abbreviations: BRCA1/2, breast cancer susceptibility gene 1 and 2; CMA, chromosomal microarray; DTC, direct-to-consumer; FTO, fat mass and obesity-associated (gene); HD, Huntington's disease; HHT, hereditary hemorrhagic telangiectasia; IRRs, individual research results; MODY, maturity onset diabetes of the young; WG/ES, whole-genome/-exome sequencing.