Great hair, big shoulders, smart wit, easy laugh, all aspects buried in an allele on your genes. DNA, boring? Hardly! What about Gary’s granddaughter who did a genetic test and discovered a first degree relative much to Gary’s surprise. Sixty years after a Florida vacation, Gary now in his nineties, discovers a lovely daughter. They are both thrilled to connect and he scrolls through pictures with pride.
Most testing will not change life so dramatically, however, in cancer clinics, oncologists are adding genetic tests to their armamentarium to help manage patients, their screening and treatments. The Human Genome Project from 2000 is leading to fantastic discoveries. For years genetic contributions revolved around monogeneic or chromosomal disorders (sickle cell, Downs syndrome) then single gene mutations for breast, ovarian, colon cancers. Now for diseases like diabetes, cardiac, hypertension and other cancers, there is more awareness about how multiple genes interact and environment contributes.
Some information will have actionable points (high risk breast… bilateral mastectomies) Others do not, but can help to ramp up surveillance (CT scans for pancreatic, endoscopes for gastric and esophageal).
The integration of genetics into medical practice is everywhere and increasing exponentially. Now, not everyone wants to know their risks. Just get on with life and not live under the shadow of concern. However, we will begin to see these evaluations as routine and eventually, thank goodness, leading toward genetic manipulation in treatments. If you are diagnosed with a major disease, you may be asked by your oncologist if you consent to genetic testing. This morning I met with a patient who has significant family history. We are referring to a genetic counselor who will determine which testing is appropriate so that he can undergo surveillance as needed specific to him. Exercise, good nutrition and routine screens are not enough for families at high risk so the goal is keep an eye out for cancer at early treatable stages.
The information age is here and your medical care will significantly be impacted by delving into those amazing genes of yours. Challenges today are opportunity for tomorrow. You never give up power because you have knowledge. This is a truly amazing time to practice medicine. Our evaluations and therapeutics are rapidly evolving. Just this week the PSMA test for diagnosis of metastatic prostate cancer (a scan that targets the radionuclide to the membrane protein on prostate cancer cells) was approved. We keep investigating and bringing changes weekly into the cancer care arena. Your genes not only will have information but actionable targets. Stay strong, even with a diagnosis of cancer, you will have more opportunities to live a good life and enjoy the wonderful strengths also found in your family genes.