A Spotlight On Personalized Medicine

By Ken Congdon

By Ken Congdon, Editor In Chief, ken.congdon@jamesonpublishing.com
Follow Me On Twitter @KenOnHIT

Last week, Angelina Jolie made the gut-wrenching decision to undergo a preventative double mastectomy after a cancer screening revealed she carried the BRCA¹ gene mutation. At age 37, Jolie did not have breast cancer, but possessing this gene increased the likelihood that she would contract the disease in her lifetime to 87%. By removing her healthy breasts, Jolie reduced her risk to 5%. Jolie’s tough choice has drawn worldwide attention to personalized medicine — a concept that, while gaining favor in the scientific community, is still largely foreign to the general public.

As I discussed in my column The Biggest “Big Ideas” At TEDMED 2013, personalized medicine was on display at TEDMED this year. For example, Larry Smarr, a physicist and computing expert, explained how he was comparing his personal health data with patient population data to manage and control his own chronic colon condition. Smarr was able to identify the distinct microbiome and bacteria patterns in healthy colons as opposed to colons with conditions such as ulcerative colitis and Crohn’s disease. By knowing exactly what his bacteria levels were, treating his condition with a specific mix of antibiotics and steroids, and measuring these bacteria levels again, Smarr was able to make noticeable improvements in his own condition.

While Smarr’s foray into personalized medicine is still in its exploratory phases, other examples, such as the cancer screening Jolie underwent, are more mature and widely used. For example, a coworker of mine recently found out he carried a gene mutation that put him at high risk for colon cancer. Unfortunately, physicians discovered he carried this gene only after he was diagnosed with the disease. Luckily, they caught the cancer early, and he is currently in remission after surgery and almost a year of chemotherapy. Moreover, since this gene mutation is hereditary, his family has been alerted to its presence in the bloodline. All of his family members have now gotten their own screenings, been alerted to whether or not they carry the gene, and are taking the precautions they deem appropriate.

What can be done to raise public awareness of these types of tests and their benefits? Surely, celebrity revelations such as Jolie’s go a long way, but healthcare providers can also play a role in educating their patients on personalized medicine on a regular basis. Furthermore, the healthcare industry is finally adopting the IT tools that will enable health providers to take the concept of personalized medicine to the next level. Through EHRs, big data, analytics, and population health management tools, providers and patients can become even more informed. For example, providers may soon be able to identify patients within their populations with specific gene or microbiome makeups, record the steps each patient has taken to address the disorder, and the success rates of each course of action. Treatment plans can be customized to meet the specific needs (and desires) of each individual patient.

Most have heralded Jolie’s double mastectomy as heroic, but some have questioned why she made such a drastic decision if she wasn’t sick. Regardless of your opinion, one point can’t be argued — Jolie had a test and was presented with all the data she needed to make an informed decision. The choice was hers — not her physician’s or the government’s. She was not only aware, but in control, of her own health. I believe this fact is very promising for the future of our industry.