Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome

Ryan Mooney; Yelena P Wu; Kelsey Kehoe; Molly Volkmar; Wendy Kohlmann; Cathryn Koptiuch; Kimberly A Kaphingst

doi:10.1186/s13053-023-00273-1

Experiences of patients and family members with follow-up care, information needs and provider support after identification of Lynch Syndrome

Hered Cancer Clin Pract. 2023 Dec 19;21(1):28. doi: 10.1186/s13053-023-00273-1.

Authors

Ryan Mooney¹, Yelena P Wu^{2

3}, Kelsey Kehoe^{2

4}, Molly Volkmar², Wendy Kohlmann², Cathryn Koptiuch⁵, Kimberly A Kaphingst⁶

Affiliations

¹ Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA. ryan.mooney@hci.utah.edu.
² Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
³ Department of Dermatology, University of Utah, Salt Lake City, UT, USA.
⁴ Department of Psychology, University of Massachusetts Boston, Boston, MA, USA.
⁵ VA Medical Center, National TeleOncology Service, Durham, NC, USA.
⁶ Department of Communication, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.

Abstract

Background: Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated screenings and potential risk-reducing surgeries. Despite the importance of continued surveillance, there is limited understanding of patient experiences after initial testing and counseling, the barriers or facilitators they experience adhering to recommendations, and how they want to receive information over time.

Methods: A cross-sectional, observational study was conducted among 127 probands and family members who had received genetic testing for Lynch Syndrome. We conducted semi-structured interviews to determine proband and family member experiences after receiving genetic testing results including their surveillance and screening practices, information needs, and interactions with health care providers. Both closed-ended and open-ended data were collected and analyzed.

Results: Both probands (96.9%) and family members (76.8%) received recommendations for follow-up screening and all probands (100%) and most family members (98.2%) who tested positive had completed at least one screening. Facilitators to screening included receiving screening procedure reminders and the ease of making screening and surveillance appointments. Insurance coverage to pay for screenings was a frequent concern especially for those under 50 years of age. Participants commented that their primary care providers were often not knowledgeable about Lynch Syndrome and surveillance recommendations; this presented a hardship in navigating ongoing surveillance and updated information. Participants preferred information from a knowledgeable health care provider or a trusted internet source over social media or support groups.

Conclusions: Probands and family members receiving genetic testing for Lynch Syndrome generally adhered to initial screening and surveillance recommendations. However, factors such as insurance coverage and difficulty finding a knowledgeable healthcare provider presented barriers to receiving recommended follow-up care. There is an opportunity to improve care through better transitions in care, procedures to keep primary care providers informed of surveillance guidelines, and practices so that patients receive reminders and facilitated appointment setting for ongoing screening and surveillance at the time they are due.

Keywords: Hereditary Cancer; Lynch Syndrome; Patient experiences; Screening adherence; Surveillance.