Karen Nash is a medical reporter and media consultant based in Monroeville, PA.
"Urologists in practice now need to have at least some working knowledge in this area because I’ve seen it several times in my academic practice," says one urologist.
Urology Times reached out to three urologists (selected randomly) and asked them each the following question: How do you counsel patients about at-home genetic tests?
“Patients who come in with home genetic test results are clearly concerned about their cancer risks. We need to address that by understanding their family history, whether there are any cancer syndromes in their family, their comorbidities, and their age.
I get a yearly PSA. I would get an MRI to make sure there was no malignancy that had not been detected through PSA. We’ve started getting MRIs every 3 to 5 years. The goal is to detect the cancer early, but we’re learning the best way to manage these risks.
If a patient is clearly anxious about their genetic predisposition to malignancies, we have genetic counselors who are experts in not only understanding the genetic basis, but also counseling, so patients know their actual risks and how they should act on them.
Patients hear they’re at increased risk of malignancy, but don’t hear the degree of risk. I’ve had patients who were told they had a 15% lifetime risk of prostate cancer and are concerned. I tell them, ‘That’s everybody’s risk.’ They’re not at high risk; that’s average risk.
Those tests are associated with an increased risk of prostate cancer but not necessarily an increased risk of aggressive prostate cancer. That’s the cancer we want to diagnose-not nonaggressive prostate cancer. Are patients at risk for developing cancer when they’re 75, or 55? Our evaluation and management will be different depending on the clinical scenario.
On the horizon, there will be clear genetic tests and we’ll need to design clinical care to alter the identified risks. If we tell patients they have increased risk of disease, but don’t do anything to alter that risk, we have not improved our patients' lives; we’ve actually made their lives worse.”
Adam Kibel, MD
Next:"Urologists in practice now need to have at least some working knowledge in this area because I’ve seen it several times in my academic practice."
“I just had a middle-aged gentleman, whose wife is a pathologist, come in with a variance of the CHEK2 mutation. The superficial research I did never associated this variant with prostate cancer, but his wife was convinced he had prostate cancer. It turns out his sister had breast cancer and another younger family member [had] ovarian cancer, so there was already a red flag there might be familial cancer. He had a mildly elevated PSA, and when I did his rectal exam he had a slight abnormality. A transrectal ultrasound-guided biopsy showed he had fairly significant prostate cancer in the majority of the cores I took.
I’ve actually had several cases from home tests this past year-a BRCA1 and a BRCA2 mutation, and a possible ATF mutation. They’re still fairly uncommon, but urologists in practice now need to have at least some working knowledge in this area because I’ve seen it several times in my academic practice. I suspect community urologists will start seeing this periodically.
If a random patient comes in with localized disease, an elevated PSA, no family history, and no metastasis, the chance of finding a mutation in one of these known genes is less than 5%. But if the patient comes in with 23andMe, with some gene mutation or variance, the safest thing is to do the rectal exam, a PSA, and a phi or 4Kscore, to ascertain their risk-maybe even a lower threshold for offering those patients a biopsy.
I’m trying to teach my residents, and myself, to think more about family history, especially where cancers are occurring in younger people. If the patient has a strong family history, I would at least talk to them. I have a nurse who is trained to talk about genetic testing offered through our cancer center.”
Judd Moul, MD
Next:"My issue is that the genetic link is usually found after a patient is already diagnosed with cancer."“I haven’t had patients do their own home genetic tests, although they’ve requested genetic tests be done here. I haven’t any had anybody mention 23andMe at all.
The hospital does genetic screening, and we have a genetics department that consults, especially for patients with multiple malignancies, young people where cancer’s not expected, or people with a strong family history. We’re not testing prostate biopsy samples yet, although I have a feeling that will change soon.
I’m not sure what’s covered by insurance yet. It costs 4 to 5 grand, so people don’t do that very often.
My issue is that the genetic link is usually found after a patient is already diagnosed with cancer. We screen to see if they have something that would make them susceptible to other cancers. Then they are usually passed on for more aggressive screening.
Some patients appreciate those tests, but honestly, I probably have just as many patients not want genetic screening. They don’t want to know. I’ve actually had patients decline genetic testing.
It hasn’t made a difference in my treatments. I don’t know if we’ve found anybody yet who had any kind of syndrome or that we have to screen for further cancers.”
Ronald Im, MD