In 2018, urologic oncologist Ronald Boris, MD, MS, geneticist Gail Vance, MD and genitourinary medical oncologist Nabil Adra, MD established a multidisciplinary clinic focused on identifying patients with hereditary renal cell carcinoma (RCC) syndromes. In 2020, the team was awarded with an Indiana University Health Values Grant to study the presence of germline mutations in various cohorts of men with cancer. Over the last three years, the team has evaluated approximately 150 patients. In the process, a robust genetic database and biorepository has been compiled. IU Simon Comprehensive Cancer Center was recently designated an official Clinical Care Center of Excellence for VHL care from the VHL alliance.
Boris, an associate professor of clinical urology for IU School of Medicine Department of Urology, is an internationally-recognized authority on hereditary renal cell carcinoma and recently sat on a panel to update the international guidelines for surveillance imaging in patients with von Hippel-Lindau Syndrome through the VHL Alliance. Additionally, Boris has been involved with the International Kidney Cancer Consortium in establishing new screening guidelines for hereditary kidney disease. The guidelines have been accepted for publication in Cancer. Below, he answers questions about the clinic and hereditary cancer care.
What made you decide to establish this clinic? Were there certain unmet needs that you were seeing in patient care?
For me, the idea stemmed from my prior exposure to hereditary RCC during my fellowship training at the National Cancer Institute. Prior to establishing this clinic, there seemed to be a relative lack of access to multidisciplinary hereditary RCC care for patients in the Midwest. Given the large number of these patients that we were seeing in our practices, we thought that setting up a similar clinic at IU Health made sense.
What are the specific goals of this clinic for referred patients? What are the team’s scientific goals for the information gained from the clinic?
The primary goal from a patient perspective is to create a one-stop consultation where they can have all of their multidisciplinary needs met. These are clinically and scientifically complex syndromes that affect multiple organs in multiple phases of life. Our goal is to try and simplify the lifelong management and surveillance for the patients in a way that facilitates compliance and maximizes patient outcomes.
This clinic should also serve as an opportunity for family members at risk for harboring these genetic syndromes to be identified and screened as appropriate. This will improve enrollment and outreach at IU and will hopefully establish ourselves as a regionally and nationally known center of excellence for hereditary prostate and kidney cancers.
Our goals in terms of research for both hereditary prostate and kidney cancer syndromes are to be able to identify germline mutations as they relate to race, family history, and extent of disease at diagnosis. Our prospective construction of our biorepository also allows us to have access to tissue, urine and blood, which enables us to investigate our hypotheses and potentially to identify novel screening agents. Ultimately, better understanding of the interplay of these factors will enable us to provide more tailored screening practices to specific syndromes and mutations. We believe our screening recommendations should be based on more nuanced patient categorization than simply using high and average risk groups. Having robust panels of hereditary RCC and prostate cancer patients here at IU should also enable us to more readily enroll our patients in national clinical trials for hereditary RCC.
In broad terms, who do you feel should be referred to your clinic?
We will evaluate anyone referred to our clinic, but in general, we recommend following the National Clinical Cancer Network (NCCN) guidelines for genetic risk referral for RCC and prostate cancer patients. This includes patients with known or suspected RCC with early onset (less than age 46), multifocal/bilateral renal tumors, more than one first or second degree relative RCC and patients with known or suspected familial hereditary RCC. The NCCN prostate cancer guidelines are somewhat more complex, but generally, we should see any patient early onset clinically-significant prostate cancer, high-risk or metastatic disease at presentation and/or a family history of prostate, breast or ovarian cancer.
Who are the team members that run this clinic and what are their roles?
Our team consists of a urologist, geneticist and medical oncologist as well as genetic counselor Courtney Schroeder, CGC and clinical coordinator Amy Tennant, RN. Through the VHL Alliance Clinical Care Center, we regularly collaborate with experts from neurosurgery, general surgery, behavioral health, ophthalmology and pediatrics. These team members remain on call as needed and also meet quarterly as a group to talk about challenging cases and team goals. New patients that are scheduled through the VHL Alliance Clinical Care Center have follow-up with these specialists as needed based on specific syndromes and clinical needs.
It sounds like this clinic was established to focus on identifying patients with germline mutations. Have you also been identifying patients with somatic mutations predisposing them to malignancy during your genetic evaluation? If so, do any of these mutations seem to be particularly prevalent?
We have worked with pathology to establish a staining profile for at-risk (FH SHD TS) patients to look for additional germline testing.
What is the biggest change that this clinic has brought to the care of patients who may have hereditary renal cell or prostate cancer syndromes?
It has greatly improved access to genetic counseling and facilitated ease of multidisciplinary care with coordinated follow-up. We have also found it much easier to be able to solicit screening of family members.
Do you find that many patients are reticent to undergo genetic testing? Some patients who are currently symptom- and disease-free may be hesitant to have a diagnosis hanging over their heads. How do you counsel these patients and their families?
One of the biggest barriers is life insurance policies. Patients are worried about access to insurance and potentially coverage down the road in terms of life insurance. We try and help them understand that this is a private investigation that, at least as of now, should not be shared with insurance companies. A lot of patients don’t want to do it. However, if you talk to them about early identification and surveillance in their loved ones and children, many will elect to proceed. That being said, we do respect that this is a very personal decision.