Building a cancer genetics and prevention program
Building a comprehensive cancer genetics program
Although implementing systematic approaches is key to selecting individuals at risk, the complexity of caring for these patients demands a service that can stand up to the multiple challenges. For instance, most CRC syndromes are in fact multi-cancer syndromes with an increased risk of cancer and other pathologies in different organs beside the colon. Furthermore, the psychological implications of having a heritable cancer condition often take an important toll on affected families, with common feelings of guilt for having passed the mutated genes to the offspring.
Thus, to provide the best care to affected families, there is a tremendous need for well-organized and comprehensive cancer genetics services that are capable of responding to the multiple needs of these families so state-of-the-art cancer preventive measures can be carried out and multilevel support can be provided. The mentioned considerations were the guiding force in the creation of the Smilow Cancer Genetics and Prevention Program (SCGPP) at Yale. Thus, we established a comprehensive program that brings together health professionals specializing in different aspects of these patients’ care that ensures their proper attention in a longitudinal fashion, making the program their home for health care. We integrated in the program, among others, physician leaders in gastrointestinal (GI), breast, gynecological, endocrine, and genitourinary high-risk malignancies; genetic counselors; an advanced practice registered nurse specializing in cancer prevention and risk reduction; and a scientific director who leads the Clinical Laboratory Improvement Amendments–certified laboratory at Yale that offers in-house genetic testing, including full exome sequencing. The SCGPP was started in July 2015, and it currently provides more than 250 new consultations per month.
The following are several key elements that I consider important for a cancer genetics program and how they have been addressed at the SCGPP.
Identification through risk stratification
Because the identification of all individuals who can benefit from cancer genetics consultation is complex yet essential, a comprehensive approach with different strategies is often necessary.9 Universal tumor testing is an effective tool, but other complementary approaches such as the use of questionnaires can also contribute to identifying patients in need for cancer genetics assessment. In our program, the pathology department tests for MMR protein expression in all bowel and endometrial tumors. The ones that have loss of expression of an MMR protein are reported to the SCGPP, which contacts the patient’s providers to request a referral. In a relatively short implementation time, this has already resulted in a significant increase in the number of patients referred for cancer genetics consultation and new Lynch syndrome diagnosis. On the other hand, two brief and simplified questionnaires have been developed and distributed in clinics, one for health providers and one administered directly to patients. The questionnaires contain questions related to the patient’s own cancer history, polyp history, cancer screening tests, and family history. The first one assists health care providers in identifying individuals. The second one is completed by patients, collected, and reviewed by a genetic counselor. Suitable patients are invited to a cancer genetics consultation through their primary health care providers. A third questionnaire directed to endoscopy services will be rolled out soon. This collects information on completed endoscopy procedures, polyps and cancers found, and family history.
The program is currently working with information technology to develop a system to pull from the electronic medical record (EMR) relevant information on the patient’s own medical history, family history, and endoscopy findings. A set of criteria has been established so relevant information will generate an alert for prompt referral for the SCGPP.
Because education of health care providers about these conditions is essential to foster collaboration and to help them better understand about cancer risk assessment, genetics, and what the SCGPP can offer to some of their patients, sessions are routinely held with some of them to discuss different aspects on cancer genetics.
In summary, a comprehensive and coordinated approach is key to substantially expand the number of individuals identified and referred for cancer genetics assessment.
Genetic testing
During the last few years we have witnessed changes at different levels around genetic testing that are having a tremendous impact. Some of these changes pose significant new challenges that require rapid adaptation on the providers’ side. Thus, we are quickly moving from single gene testing to panels of genes tested at once. This has resulted in unexpected findings such as mutated genes not initially suspected or variants of unknown significance that often should be interpreted in the context of the personal and family history of cancer because of the lack of definite information on their potential pathogenicity.10 Adding to that, genome-scale tumor sequencing is becoming more common as it increasingly informs on the types of anti-tumor therapies to be selected for a specific patient (precision medicine). This approach is revealing some unexpected information because in some cases it has helped identify significant mutations in the germline.11
