How Genetic Testing Can Benefit Your Urology Practice

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An estimated 161,360 men will be diagnosed with prostate cancer in 2017; early detection is critical for successful treatment of this disease.  We hope that Prostate Cancer Awareness Month will bring more men to their healthcare providers asking about prostate cancer screening or about their risk of developing this disease.

Genetic testing for hereditary prostate cancer can play an important role in determining the best screening and management plan for your patients. We encourage you to be diligent about collecting each patient’s family history and look for possible signs for hereditary cancer to help you determine if your patient should consider genetic testing.

For a firsthand account of the experience of a doctor treating men with prostate cancer, we interviewed Dr. Helfand, a Urologist in Chicago, IL. 

1.  What made you interested in becoming a Urologist?

I always knew that I wanted to become a physician because the position offers an opportunity to help people and make a meaningful difference in their lives. When I started medical school, I had no idea I would land in the field of Urology.  However, I could not have chosen a better surgical specialty that was more suited to my personality.  

When I started my medical school clinical training, I was encouraged to go into a “true medical specialty" like gastroenterology or cardiology. However, I did not feel that these specialties matched well with my overall goals and interests. I liked to do things with my hands and I enjoyed performing procedures. I felt that the biggest differences could be made with surgical intervention, so I was drawn to surgical specialties.  

As I became exposed to patients with urologic conditions, I realized that most patients ultimately required urologic care--because the issues had large impacts on their quality of life. I also learned that for many men, a urologic diagnosis, such as prostate cancer, was the first "real" medical issue that they faced in their lifetime. At this time, I had the opportunity to closely work with one of my career mentors, Dr. William Catalona.  He is a world renowned Urologist who is responsible for the introduction and FDA-approval of the PSA screening test. In addition, he was an expert at the surgical removal of the prostate. Under his guidance, I was exposed to a whole new world of Urology and prostate cancer. This mentorship ultimately fostered my career dedicated to the treatment of men with prostate cancer.

2.  How has treating men with prostate cancer impacted you?

Because every patient is unique, I continue to learn from all of my prostate cancer patients. One of the most impactful patients that I have come across was a 40-year-old gentleman who, upon returning from a trip, experienced urinary tract symptoms that were thought to be related to a potential bacterial exposure.  He had a negative urine culture, so his primary care physician obtained a PSA test, which came back elevated to a value of 5.2 ng/ml (a normal value for his age is <0.7ng/ml). He was then referred to me for further work-up.  We initially discussed that this was likely related to inflammation or a subtle infection. A repeat PSA demonstrated a value of 6.4ng/ml.

I learned that his father was diagnosed with prostate cancer at age 52, and ultimately succumbed to the disease by age 64. I was surprised to learn that his only immediate concern was not the possibility of his own prostate cancer, but rather what this meant for his young children. We proceeded with genetic testing which identified a BRCA2 mutation and discussed the implications of this for his prostate cancer screening, possible diagnosis, and children. He ultimately underwent a biopsy that demonstrated high-grade, aggressive disease that was confined to the prostate. He underwent surgery to remove the prostate and lymph nodes with great results. 

This particular patient taught me many lessons about prostate cancer and life.  First and foremost, he emphasized how great we can be as humans in that his first response was not to think of himself, but rather of his children. He also taught me that not every man is the same, and that we have to take special consideration for men who are carriers of gene mutations that are associated with prostate cancer and aggressive disease. Many of the current guidelines do not recommend routine PSA testing until age 55, which likely would have been too late for this patient. This truly demonstrates the power of genetic testing and how we can use it to help guide personalized clinical decision-making in prostate cancer.

3.  How have you integrated genetic testing for hereditary prostate cancer into your practice and what impact has this had on you and your patients?

Data currently support that there are 3 components that are essential to estimating a man's risk of prostate cancer including 1) family history of disease 2) high penetrance genes (e.g. BRCA1/2) and 3) Genetic Risk Score (a genetic test that can estimate disease risk based upon genetic variations called single nucleotide polymorphisms). I believe that every man should undergo a thorough screening prior to the initiation of prostate cancer testing. Knowing this genetic information can help identify which men are at the greatest risk of developing prostate cancer and aggressive tumors.

Inherited risk should trigger earlier and potentially more frequent prostate cancer screening, including serum PSA tests and digital rectal examinations. Almost every authoritative guideline includes screening at an earlier age if there is a family history of prostate cancer, so it is logical that men with a known genetic predisposition should be screened in a similar fashion. Therefore, if a man has a BRCA2 mutation, he would be significantly more likely to be diagnosed with prostate cancer. Several studies have suggested that earlier screening for gene mutations permits identification of the disease before it spreads outside the prostate. 

Based upon this premise of inherited risk, every man who comes to my clinic gets evaluated for their overall genetic risk. This helps me develop personalized management plans. In addition, since many of these genetic mutations have been associated with more aggressive disease, and dictate response to certain medical therapies, they have also helped guide clinical decision making for men who are known to have prostate cancer.

4.    If you were asked to give advice to all men during this Prostate Cancer Awareness month, what would it be?

My patients often tell me that there is no way that they have prostate cancer because they feel so healthy.  However, in the era of PSA testing, most patients with prostate cancer are diagnosed when they are asymptomatic.  In fact, I explain that if they develop symptoms such as bone pain, weight loss, or severe lower urinary tract symptoms--it may be too late because the disease may have already spread. Early detection remains crucial to successful treatment. This should begin with a thorough clinical evaluation that includes a PSA blood test, a digital rectal exam and an assessment of inherited risk. This knowledge will help provide a personalized screening program that permits the identification of prostate cancer at an early time point.

Some patients in my clinic appear to be intimidated by genetic testing. I explain to these patients that determination of their inherited risk is not fatalistic— not everyone with a gene mutation is diagnosed with the disease. More importantly, because every man is born with a unique DNA fingerprint, no one can change his inherited risk. We can pretend that it does not exist and ignore this information or we can take advantage and screen for things that we are at most at risk of developing. The latter provides an opportunity to diagnose and treat prostate cancer at a very early stage. Based upon this concept, I advise that men should know their inherited risk and get screened for prostate cancer.

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