A national screening program for Lynch syndrome, the most common form of hereditary colon cancer, is planned by the VA's national Genomic Medicine Service. Screening entails testing of colon tumors for features of Lynch syndrome, including microsatellite instability and loss of expression of mismatch repair proteins. Individuals with Lynch syndrome are at risk for one or more colon cancer diagnoses during their lifetime, often at young ages. They also have increased risks for gastric, small bowel, renal pelvis and ureter cancers, and in women, endometrial and ovarian cancers. Identifying individuals with Lynch syndrome can help to guide cancer screening and prevention that is appropriate given their cancer risks.
The goal of this study was to conduct preparatory research within Veterans Integrated Service Network 22 (VISN 22) to identify barriers and facilitators relating to implementation of Lynch syndrome screening. Four sequential aims were proposed for this study guided by the VA's Quality Enhancement Research Initiative (QUERI) program's annotated six-step framework.
Aim 1. Document current delivery arrangements for screening and diagnosis of Lynch syndrome, and deviations from evidence-based practices (QUERI Step 3A).
Aim 2. Explain variations in care delivery arrangements for screening and diagnosis of Lynch syndrome through documentation of clinic structure, staffing, policies and procedures and other organizational features that might explain variations in practices (QUERI Step 3B).
Aim 3. Diagnose quality gaps relating to implementation of Lynch syndrome screening and diagnostic testing (referring again to organizational factors that might be associated with variations in quality) (QUERI Step 3C).
Aim 4. Assess barriers and facilitators to effective, evidence-based implementation of Lynch syndrome screening and diagnostic testing (QUERI Step 3D).
We conducted semi-structured interviews with the network and facility leadership and clinical staff from the five facilities in VISN 22. All interviews were recorded and transcribed for accuracy. To develop structured, systematic descriptions of the characteristics the facilities we used a rapid matrix analysis to summarize the interviews according to five key topics that were identified: (1) processes relating to screening of tumor tissue for Lynch syndrome, (2) barriers to implementation of Lynch syndrome screening, (3) facilitators of implementation, (4) informed consent procedures for Lynch syndrome screening, and (5) policy issues relating to Lynch syndrome screening. This method allow for easy qualitative comparisons within and across specialties and facilities.
None at presentA total of 46 individuals were interviewed (June 2011-January 2012) including the network chief medical officer and chiefs of staff (n=6) and clinical chiefs and other staff from the specialties of Pathology and Laboratory Medicine (n=10), Medical Oncology (n=8), Gastroenterology (n=9), Surgery (n=7) and Primary Care (n=6).
Overall we learned that awareness about Lynch syndrome varied considerably among providers within and across the facilities. Lynch syndrome screening was available at four of five facilities. There was no systematic approach to Lynch syndrome screening at any facility at the time, though a laboratory protocol was under development at one site. Lynch syndrome screening was not orderable in the computerized patient record system (CPRS) at any facility; however, a laboratory consult request was available or informal requests were made. Generally, Lynch syndrome screening results were returned as an addendum to the pathology report and there was variation in notification of the ordering clinician.
Many barriers to the process of Lynch syndrome screening were identified, including the cost of screening (including downstream costs related to diagnostic testing and screening), lack of awareness and knowledge about Lynch syndrome, lack of expertise, lack of infrastructure and resources, lack of laboratory processes and procedures, the relatively low prevalence of Lynch syndrome, and the tight laboratory budget.
Facilitators for Lynch syndrome screening included availability of: guidance, policy and protocols for screening; provider education; gastroenterology specialists available to manage cases; the expertise of clinical genetics; a registry for tracking and monitoring of screen positive cases; funding, resources and manpower to implement a screening program; and use of the tumor board at each facility to discuss cases.
For implementation of Lynch syndrome screening in VISN 22, the following were recommended. A screening guideline should be developed and there should be a champion at each facility, with certain provides (e.g., gastroenterologist) playing a key role. A case manager should track and monitor screen positive cases. Provider education to all specialties should occur. Tumor boards at each facility should facilitate implementation. Patients who screen positive should be referred for genetic consultation, and telehealth would be key for providing these services across the network. Tools in CPRS for test orders and a registry for tracking screened cases should be developed. Quality indicators and performance measures related to Lynch syndrome screening could promote implementation.
A policy issue that emerged related to targeted screening of certain colon cancer patients versus universal screening of all colon cancer patients. Those who favored targeted screening generally had concerns about the lack of relevance of screen positive results and the costs they could incur for many patients - particularly those older than age 65 who are less likely to have Lynch syndrome, while those who favored universal screening were concerned about missing cases with a more focused approach. Informed consent was another policy issue that arose. There was no consensus about the need for an informed consent process prior to Lynch syndrome screening; among those who felt it was necessary, there were differing opinions on how it should happen. Reasons for wanting the consent at the screening stage included concerns about potential harms of Lynch syndrome screening relating to psychological distress and implications for family members.
As a result of this research, leadership VISN 22 developed a Lynch syndrome screening algorithm and the network's Clinical Genetics Service will be responsible for tracking and monitoring screen positive cases, with referral of screen positive cases to the genetics service for diagnostic evaluation including genetic counseling and testing.
External Links for this Project
None at this time.