Precision Medicine – Personalization That Matters to Patients

Precision Medicine – Personalization That Matters to Patients

Blogged on behalf of Vanessa Rangel Miller, VP Genetic Services, AltaVoice, speaker at World Precision Medicine Congress USA 2016.

Every day people use systems to provide feedback in order to improve the system. After you exit an Uber, you rate your driver and experience. Would you get into a car with a driver with a 1-star? When you buy something on Amazon, you likely read the reviews. How often has the opinion and experience of others factored into your purchasing decisions? Uber and Amazon are two of the most successful companies in the world because they collect feedback from users. They leverage the voice of the consumer to improve everyone’s experience. We do the same thing in our Patient Insights Network (PIN). And the stakes are high because our users are up against tough diseases and medical conditions.

We engage with patient communities and ask them about their healthcare experience. What treatments do they use? How long did it take to get diagnosed? What kind of testing finally lead to the diagnosis? If they meet the criteria to qualify for a clinical trial, would they like to hear about the opportunity? These are questions that patients who have been through the process can easily answer. Making the answers readily available to other patients just makes sense. That’s why we are creating infographics from our PIN data. We’re using data to bring a new level of precision to medical care and helping patients learn from others.

When am I going to get a diagnosis?

By asking patients for their insights, we know that the journey to get a diagnosis often requires visits to multiple specialists. It can be a daunting and lonely path for many patients with a rare disease. In Sanfilippo Syndrome Type A, we have learned that while 52% of patients are diagnosed less than 12 months from the time symptoms are first noticed, 16% of patients report that it has taken five to 10+ years to get a confirmed diagnosis. We know that geneticists and neurologists are most likely to make the diagnosis. We also found that developmental delay and behavior issues lead the patient to seek medical care in the first place. This is invaluable information for patients! Instead of wondering if their journey is ever going to end, they have information that can lead to a faster diagnosis. In the best cases, it will help patients get on the proper treatments faster, resulting in better outcomes, at a lower cost to the health care system.

What testing should I get?

Combining diagnostic testing data with patient provided medical and family history, medication usage, and clinical outcomes enables researchers to develop drugs that work best in patients with a specific profile. It allows doctors to prescribe the treatment that has the highest likelihood of success based on the unique needs of each individual. Understanding what testing is most likely to result in a proper diagnosis is critical to patients. So we asked.

DuchenneConnect collected the genetic test reports from nearly half of its participants. The data shows that more than 55% of patients have used steroids, typically starting between the ages of three to eight. We know that boys will usually begin fulltime wheelchair use anywhere from eight to 15 years of age. We also know how much that can affect their quality of life. The result? In 2015, the program has recruited for nine clinical trials and eight research studies. The data has been used to justify approval of DMD drugs at the FDA. The first ever Duchenne therapy was approved for Sarepta’s Exondys 51, for use in patients who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping. Over 25 companies now have therapies in development for Duchenne, many of which are targeted therapeutics that address specific genetic mutations.

What are the most common treatments?

The way diseases are treated can vary greatly, particularly in rare diseases or in more rural areas without access to large research facilities. How can doctors be expected to understand how to treat more than 10,000 rare diseases? By asking patients how they manage their disease and what types of treatments they use, we can learn about treatment patterns. Patients can make better decisions about how to manage their condition by bringing data to their doctors.

For patients living with an ultra-rare condition, lipodystrophy, patients deal with life-long symptoms that effect multiple areas of health. Patients report using statins, omega-3-fatty acids, and fibrates to control high cholesterol and triglycerides. Patients also use insulin or oral agents to control diabetes, as well as thyroid or other hormone supplements. Over 50% of participants report following a low cholesterol, low fat or diabetic diet to manage their lipid levels. Yet, often overlooked concerns of appetite and hunger levels are troubling to participants, with 44% of participants reporting that they are hungry all or most of the time, and over 18% reporting that they hardly ever feel full. Clinical understanding is sparse in this area, so patients are turning to their LD-Connect PIN to make their collective voices heard.

Sharing information brings more precision to patient care

All of these things are possible today on more than 400 diseases through Patient Insights Networks. The Power of a PIN is that this information is gathered, de-identified and shared with patients and researchers to help find new and better treatments, faster. Sharing is essential. Sharing will break down the data silos that impede medical advances and go a long way to bring the benefits of Precision Medicine to patient care.

Precision Medicine


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