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Original research
Development and evaluation of an online, patient-driven, family outreach intervention to facilitate sharing of genetic risk information in families with Lynch syndrome
  1. Mala Pande1,
  2. Susan Peterson2,
  3. Patrick M Lynch1
  1. 1Gastroenterology, Hepatology and Nutrition, University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  2. 2Behavioral Science, University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  1. Correspondence to Dr Mala Pande, Gastroenterology, Hepatology and Nutrition, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA; mpande{at}mdanderson.org

Abstract

Background Identifying at-risk relatives of individuals with genetic conditions facilitates ‘cascade’ genetic testing and cancer prevention. Although current standards of care give mutation-positive (index) patients the responsibility of sharing genetic risk information with relatives, the communication is suboptimal, limited largely to close relatives. We developed FamilyCONNECT, a provider-mediated, patient-navigated online tool to facilitate family outreach, and assessed its feasibility, usability and acceptability.

Methods (1) Development of the FamilyCONNECT prototype; (2) testing using online surveys of: (a) members of Lynch Syndrome (LS) International (LSI); (b) genetics service providers; and (3) hands-on testing with patients with LS.

Results (1) FamilyCONNECT’s features include introductory email to elicit participation, informational website/video, identity authentication/account creation, informed consent, sharing of genetic test results, pedigree expansion and process to invite at-risk relatives. (2a) 33% of the 170 LSI participants completed the survey. FamilyCONNECT’s features received favourable responses from at least 79% of respondents. Unfavourable responses were for length of the consent document and mistrust of opening emailed links. (2b) Thirty-five genetics professionals responded to the providers’ survey. Key perceived barriers to FamilyCONNECT’s usage were privacy/confidentiality (83%), a lack of institutional resources (76%), a defined process (66%) and time (69%). (3) Ten patients navigated data collection fields and provided feedback for improvements.

Conclusion FamilyCONNECT tool’s content and features were well received among patients with LS as well as providers. The tool could be a viable alternative to increase family outreach among patients with LS. Future efforts will focus on refining FamilyCONNECT and assessing its uptake and utilisation by patients with LS.

  • genetic research
  • information science

Data availability statement

Data are available upon reasonable request. Aggregate data relevant to the study are included in the article or uploaded as supplemental information. Deidentified participant data can be made available upon reasonable request by contacting the corresponding author at mpande@mdanderson.org. A brief proposal outlining the research for which the data will be used is required.

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Data availability statement

Data are available upon reasonable request. Aggregate data relevant to the study are included in the article or uploaded as supplemental information. Deidentified participant data can be made available upon reasonable request by contacting the corresponding author at mpande@mdanderson.org. A brief proposal outlining the research for which the data will be used is required.

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Footnotes

  • Collaborators Jessica Moore BS,DHCE,MA.

  • Contributors All authors contributed to the conception/design of the work, data collection, data analysis and interpretation, drafting the article, critical revision of the article and final approval of the version to be published.

  • Funding Support provided, in part, through a Cancer Center Support Grant (CA16672, PI: P Pisters, MD Anderson Cancer Center), from the National Cancer Institute, National Institutes of Health.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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