Community Practice Implementation of a Self-administered Version of PREMM_1,2,6 to Assess Risk for Lynch Syndrome

Area of Science:

• Gastroenterology
• Genetics
• Oncology

Background:

• Lynch syndrome (LS) is an inherited disorder significantly increasing cancer risk, yet it remains underdiagnosed.
• The PREMM_1,2,6 tool estimates the likelihood of carrying LS-associated germline mutations based on personal and family cancer history.

Purpose of the Study:

• To assess the feasibility of using a patient-completed version of the PREMM_1,2,6 model for systematic Lynch syndrome risk assessment in a community gastroenterology setting.
• To evaluate patient and provider satisfaction with the self-administered risk assessment tool.

Main Methods:

• The PREMM_1,2,6 tool was adapted for tablet-based self-administration by patients in a community gastroenterology office.
• 3134 patients completed the assessment; those with PREMM_1,2,6 scores ≥5% were offered genetic counseling and germline mutation analysis.
• Patient and provider surveys were used to gauge feasibility and satisfaction.

Main Results:

• 5.6% of individuals (177/3134) had PREMM_1,2,6 scores of 5% or higher.
• Lynch syndrome-associated mutations were detected in 2.1% of tested individuals with scores ≥5% (3/146).
• 98.6% of participants understood the provided information, and all surveyed providers were satisfied and willing to continue using the tool.

Conclusions:

• A patient self-administered PREMM_1,2,6 tool is a feasible method for systematic Lynch syndrome risk assessment in community gastroenterology and endoscopy practices.
• This approach can aid in identifying individuals who require further genetic evaluation for Lynch syndrome.