Table 1.
Characteristics of 27 studies included in systematic review
| Study author, year | Study title | Country | Study design, sample size of at-risk relatives | Hereditary cancer syndrome | Intervention |
|---|---|---|---|---|---|
| Barrow61 | Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey. | UK | Cross sectional study, 591 | Lynch syndrome | Enhanced role for GP to facilitate communication within families |
| Frey62 | Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling. | USA | Prospective cohort study, 95 | Not specified | Facilitated cascade testing via telephone genetic counseling and mailed saliva-based genetic testing |
| Donenberg38 | A clinically structured and partnered approach to genetic testing in Trinidadian women with breast cancer and their families. | USA | Prospective cohort study, 125 | Breast cancer | A clinically structured and partnered approach |
| Tone39 | The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches. | Canada | Prospective cohort study, 564 | High grade serous ovarian carcinoma | Outreach and direct recruitment |
| O’Neil63 | Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population. | USA | Prospective cohort study, 100 | Hereditary breast and ovarian cancer | Peer-coach led telephone counseling |
| Dilzell32 | Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives. | USA | Retrospective cohort study, 24 | Lynch syndrome | Educational materials |
| Furniss41 | Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study. | USA | Randomized controlled trial, 98 | Pancreatic ductal adenocarcinoma | Remote genetic education and testing |
| Courtney21 | Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. | Singapore | Prospective cohort study, 826 | Not specified | Free cascade testing |
| Chen64 | Extended Family Outreach in Hereditary Cancer Using Web-Based Genealogy, Direct-to-Consumer Ancestry Genetics, and Social Media: Mixed Methods Process Evaluation of the ConnectMyVariant Intervention | USA | Prospective cohort study, 57 | Not specified | ConnectMy Variant (Web-based genealogy) |
| Katz33 | Cascade Genetic Risk Education and Testing in Families With Hereditary Cancer Syndromes: A Pilot Study | USA | Randomized controlled trial, 66 | Breast cancer | Online cancer genetic education followed by free or paid ($50) testing |
| Goodman65 | Development of a secure website to facilitate information sharing in families at high risk of bowel cancer— The Familyweb Study | UK | Cross-sectional study, 198 | Colon cancer | Use of website as a file sharing facility |
| Li18 | Impact of subsidies on cancer genetic testing uptake in Singapore | Singapore | Prospective cohort study, 235 | Not specified | Subsidy schemes |
| Schmidlen24 | Use of a chatbot to increase uptake of cascade genetic testing | USA | Prospective cohort study, 377 | Not specified | Cascade chatbot |
| Garcia34 | Mechanisms to increase cascade testing in hereditary breast and ovarian cancer: Impact of introducing standardized communication aids into genetic counseling | USA | Prospective cohort study, 40 | Hereditary breast and ovarian cancer | Use of communication aids |
| Aeilts66 | The impact of a cascade testing video on recipients' knowledge, cognitive message processing, and affective reactions: A formative evaluation. | USA | Cross sectional study, 373 | Hereditary breast and ovarian cancer | Use of video-based messaging |
| Kahn67 |
Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome? |
USA | Prospective cohort study, 114 | Hereditary breast and ovarian cancer | Follow-up telephone call |
| Caswell-Jin23 | Cascade genetic testing of relatives for hereditary cancer risk: Results of an Online Initiative | USA | Prospective cohort study, 2280 | Not specified | An online, low-cost family testing program |
| Patenaude68 |
Young adult daughters of BRCA1/2 positive mothers: What do they know about hereditary cancer and how much do they worry? |
USA | Retrospective study, 57 | Hereditary breast and ovarian cancer | Professional-family member communication |
| Yoon56 | Genetic 3ounselling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: An observational descriptive study | Malaysia | Prospective cohort study, 471 | Hereditary breast and ovarian cancer | Cancer genetic counseling service |
| Haas69 | Environmental scan of family chart linking for genetic cascade screening in a US integrated health system | USA | Cross-sectional study, N/A | Not specified | Integrating automated family cascade genetic testing into EHR |
| Frey70 | What happens in the long term: Uptake of cancer surveillance and prevention strategies among at‐risk relatives with pathogenic variants detected via cascade testing | USA | Prospective cohort study, 95 | Not specified | Facilitated cascade testing |
| Delahunty71 | TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members. | Australia | Retrospective cohort study, 60 | Tubo-ovarian cancer | Retrospective genetic testing in deceased probands |
| Pande72 | Development and evaluation of an online, patient-driven, family outreach intervention to facilitate sharing of genetic risk information in families with Lynch syndrome. | USA | Cross sectional study, 56 | Lynch Syndrome | FamilyCONNECT online tool |
| Sermijn40 | The impact of an interventional counseling procedure in families with a BRCA1/2 gene mutation: efficacy and safety. | Belgium | Prospective cohort study, 172 | Hereditary breast and ovarian cancer | Stepwise interventional approach to inform ARRs |
| Menko73 | The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure. | The Netherlands | Retrospective study, 239 | Hereditary breast and ovarian cancer | Guideline containing recommendations regarding proband-mediated procedure |
| Kassem74 | Racial Disparities in Family Variant Testing for Cancer Predisposition Genes | USA | Retrospective study, 3872 | Not specified | Cascade testing at no-charge |
| Kauffman75 |
Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol |
USA | Prospective cohort study, N/A | Ovarian cancer | Traceback approach for using pathology specimens |
N/A not applicable.