White House 2016 Precision Medicine Initiative Summit – Recap

In January 2015, President Obama announced the Precision Medicine Initiative, or PMI. The PMI was originally portioned $215 million in the 2016 budget, with the aim to use patient volunteered data on a massive scale to accelerate medical research and thus aim to accelerate our ability to treat and prevent disease.

Around the one-year anniversary of the announcement of the PMI, the White House hosted a Precision Medicine Initiative Summit to discuss what the PMI means for patients and our health care system, as well as discuss the instances of precision medicine we are already seeing. President Obama was joined by a panel of three other people currently playing a role in precision medicine: Sonia Vallabh, a biology PhD student at Harvard Medical School and co-founder of the non-profit Prion Alliance; Howard Look, president, CEO, and founder of Tidepool; and Dr. W. Marston Linehan, a urologist and kidney cancer researcher. The video of the Summit, along with more information on the PMI, can be found here. However, the entire video is fairly long (45 minutes). So, if you can’t watch the video in its entirety, this blog post will provide a recap.

The Summit begins with President Obama discussing precision medicine and the goals of the PMI. He notes, “This is an incredibly exciting time in medicine generally…And a lot of this traces back to the mapping out of the human genome”. Through the use of computers and big data, the president continued, we are seeing rapid acceleration in the field of genetic mapping. And this is overall increasing our knowledge of how diseases operate, how the human body and cells operate, giving us the knowledge that every cancer is a genetically distinct, unique challenge, and more. All of these insights and advances promise a possibility of being able to cure diseases that, up until now, we couldn’t figure out.

What is key to this continued advance, President Obama argues, is being able to build up our databases with the large-scale patient data that will allow these advances to continue; this means all Americans having electronic medical records (EMRs) that are private and secured but also part of a data pool that can be used by doctors and researchers to gain insight into bigger disease patterns. This is how the PMI is designed. To fit all of these “building blocks” together, as the president puts it, so the whole is greater than the sum of its parts. And as of the date of the summit, a “large number” of new organizations have pushed forward new initiatives in line with the PMI. One of these organizations that has adopted the goals of the PMI is the Veterans’ Administration (VA). The VA is working to gather genomic data on our veterans to figure out how to better treat the health challenges faced by our fighting men and women.

(See our article from March 17th about the contract awarded to Genelex by the VA.)

After the president’s opening statements, the Summit moves on to hearing from each of the panel members. The first of the panel members is Sonia Vallabh. Sonia’s mother had been diagnosed with what was known at the time as Fatal Familial Insomnia. After learning of the genetic component of the disease, Sonia had herself tested for the genetic markers that could lead to the same disease. When the test results came back positive, Sonia and her husband changed careers to become PhD students at Harvard Medical School, devoting their lives to studying the disease and similar conditions – collectively known as Genetic Prion Diseases. These prion diseases, before a time when we knew of the genetic components and preemptive testing, were usually named based on the symptoms, as in the case of Fatal Familial Insomnia, or for the discoverer. Now that we are aware of this genetic component, Sonia argues, we can now rename these diseases with genetic information, we can rename them how they actually are. As Sonia herself puts it, “This is like our greatest weapon. Like, we are coming in knowing what our enemy is. We have molecular resolution on our target. And I think we do ourselves a disservice by clinging to names that obscure the mechanisms of these diseases.” With the big data goals of the PMI, databases of information provided by patients diagnosed with these rare conditions can serve to help rename these diseases in an accurate way, and give physicians a better idea of what they are up against.

The next panel member to speak is Howard Look. Howard’s daughter was diagnosed with Type 1 diabetes. Along with the diagnosis came a glucose monitor and insulin pump, both necessary to manage her condition. Howard found it was incredibly difficult to actually get data from the devices; each had its own proprietary software and could not interface with the other. This led Howard to begin educating himself on a way to solve this problem, to liberate the data from the devices. Eventually, Howard founded Tidepool, an open source and non-profit organization to provide applications and resources for Type 1 diabetes patients to more effectively manage their diabetes data from all their devices by putting all of the data in one place. This data can also be easily shared with their doctors, or anonymously contributed to a larger database that is supported with data from other Type 1 diabetes patients. By having a database about many individuals’ diabetes data and trends, researchers can more easily see bigger patterns and learn how to look for better ways to treat and manage the disease. And on the individual level, having all of your relevant data in the same place allows for safer and more precise glucose management and insulin delivery. Patients shouldn’t have to “outsmart” their devices to get the information they need, Howard says.

The third and final panel member to speak is W. Marston Linehan, MD. Dr. Linehan is a urologist and kidney cancer researcher working with the National Institutes of Health (NIH). According to Dr. Linehan, a patient with a small kidney tumor can now be cured the vast majority of the time. Thirty to forty years ago, this was not the case; most kidney cancer patients died within 24 months. Around this time, Dr. Linehan and his colleagues began investigating possible genetic markers for kidney cancer. When this endeavor began, there was no Human Genome Project to look to for guidance. It took ten years for Dr. Linehan’s team to work on one gene. Today, we now know that, essentially, kidney cancer is not kidney cancer, rather it is a number of different cancers that happen to occur in the kidneys. And we now know of 16 different genetic pathways and markers related to kidney cancer, with probably still many more to be discovered. To date, the FDA has approved 7 different drugs targeting the originally discovered genetic pathway. Dr. Linehan strongly expresses his support for and belief in precision medicine, saying, “I couldn’t practice medicine, really, without what we now call precision medicine. I really couldn’t do it. It helps us decide what operation to do, whether to do an operation or not, what drug to give…It is incalculable to us what this has meant to how we manage these patients.”

After the panelists speak, President Obama provides some closing remarks. He notes that the PMI is still in its infancy, and right now, one of the goals of the PMI is to figure out how to break down the barriers that are preventing us from making big leaps in advancing our knowledge.

One of these barriers, the president points out, is knowing who owns healthcare data. As patients, when we go in to see the doctor we feel that any data collected about us and our health is ours. This data is also stored in electronic health record systems in different hospital and clinic systems. We do not want this data to be trapped. Patients should be able to choose to donate or volunteer their data to a larger pool of data collected from patients with similar conditions from different medical systems.

Privacy concerns are another challenge for precision medicine. Patients may be concerned that, “Hey, if I donate my data to this big pool, I want to be assured that this data won’t be used or commercialized in a way I don’t know about”, and this may cause some issues gathering enough data.

One final challenge discussed in the Summit is potential economic pushback. As the president explains, right now a company may have a “blockbuster” drug that works very well for one individual and not at all for another. But in the aggregate, it looks like the drug works pretty well and thus gets prescribed commonly and the drug company is able to profit. If we are aware of who the medication actually doesn’t work for, the group of potential customers gets smaller and so do profits, and then so does investment. One of the goals of the PMI, the president then states, is to figure out the ways in which the government may be able to step up and potentially subsidize drugs that work for a very small group of people. In the long run, we can save a lot of money if every drug we prescribe actually works, President Obama argues. And that is the work we here at Genelex do specifically, working to help patients and doctors take out the guess work and find the right medication faster.

The work Genelex does, as with that of the three panelists from the PMI Summit, is just a small portion of the efforts and advances of precision medicine. For more reading regarding precision medicine, see our earlier blog post about what precision medicine is and what it means for you.

For more information about the Precision Medicine Initiative, visit the Fact Sheet page.