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The 5th ELSI Congress - ELSIcon2022

ELSIcon2022 Panel: Innovating Equitable Communication Modalities for Patient Activation and Cascade Testing for Familial Hypercholesterolemia: Cases of Ethical, Legal, and Social Complexities from a Pragmatic Trial


ELSIcon2022 • Panel Session • May 27, 2022

Gemme Campbell-Salome, Amy Sturm, Kelly Morgan, Eric Tricou

Cascade testing of at-risk relatives can be an effective way to identify individuals with hereditary conditions, such as familial hypercholesterolemia (FH). Once an individual (or proband) is diagnosed with FH, they can begin to disclose this information to their family and encourage subsequent testing of all at-risk relatives, representing a cycle that is repeated or “cascaded” through the family system. However, the burden of accurately communicating genetic risk information to family members is placed on probands within current models of care. Probands have reported a myriad of barriers to sharing FH risk information with relatives and have expressed interest in receiving support from clinicians to communicate with family. These barriers not only challenge proband-family communication about FH risks, but can also confound at-risk relatives’ ability to pursue cascade testing and subsequent care. These challenges are likely exacerbated in underserved communities, including rural communities, who have historically had less access to healthcare.

Innovative communication modalities such as chatbots and clinicians directly contacting at-risk relatives have the potential to bridge equity gaps in communicating about and acting on genetic risk for FH. These innovations can address gaps including low genetic health literacy, geographical and/or emotional distance among relatives, socioeconomic status and insurance coverage limitations, and physical distance from healthcare. Chatbots, or computer-based conversational agents, can interact with individuals in ways mirroring human dialogue to deliver standardized medical information designed by clinicians at the user’s pace.


Disclosure of genetic risk information to relatives
Genetic testing and screening

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