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Precision Medicine Conference Highlights

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Precision medicine, also referred to as personalized or individualized medicine, is defined on Wikipedia as “a medical model that proposes the customization of healthcare—with medical decisions, practices, and/or products being tailored to the individual patient.” This model has been at the forefront of many diseases focused conversations since President Barack Obama’s January 20, 2015 State of the Union Address in which he announced, “Tonight, I’m launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes — and to give all of us access to the personalized information we need to keep ourselves and our families healthier.”

Last month, I attended the Precision Medicine 2015: Patient Driven conference hosted by the Center for Biomedical Informatics (soon to be Department for Biomedical Informatics) at Harvard Medical School (HMS) to learn more about what the leaders in this field were thinking and how these efforts can help brain tumor patients.

Throughout the 1.5 day meeting, I listened to numerous panels made up of experts examine topics such as how we are going to pay for precision medicine, the ethical and regulatory challenges around precision medicine, and delivering precision medicine to the point of care. All in all, this conference was an amazing learning experience for me and I wanted to share with you some highlights and key takeaways.

The Importance of Precision Medicine
Dr. Jeffrey Flier, Dean of HMS, opened the meeting by stressing that the precision medicine community needs sound, valid, and safe reproducible methods. He explained that patients appear ready and are not waiting for regulators; they have already begun collecting and sharing their own medical information via sites like 23andMe and creating community-fed databases. Dr. Zak Kohane, Chair of the Department of Biomedical Informatics at HMS and organizer of the conference, underscored that precision medicine is a patient-led movement, in its adolescence, and that there is a need for doctors to become more familiar with genetics, in such ways as how to administer and interpret genetic results, for this movement to gain maturity.

The first of three keynote talks was given by Dr. Matt Might of the University of Utah and NGLY1 Foundation, and set an optimistic and encouraging tone for the rest of the conference. Matt is the father of the first NGLY1 deficient patient ever discovered and talked about his family’s journey after his son’s diagnosis, discussing the steps they took to understand the disease, find others like his son, and uncover ways to treat the disorder. Much of the awareness and community building started with a blog post Matt wrote that was later picked up by news outlets like The New Yorker. Matt continues to blog at matt.might.net. I encourage everyone reading this to go watch this video of Dr. Might telling his families story.

Linda Aveyco-founder of 23andMe and co-founder and CEO of We Are Curious, Inc., followed with the second keynote presentation. She discussed the ways in which precision medicine will help us move to health-centric care and away from treating only when a disease emerges. Something that Dr. Brian Kelly of Quintiles also alluded to later in the conference when talking about healthcare costs in the USA. As we work to perfect precision medicine, Dr. Kelly believes that we, as a nation, have to start to get healthier. This will help offset healthcare spending on diseases. Through exercise, diet, and more preventative medicine (ex: yearly doctors appointments), we as a nation can become healthier, which would free up approximately 20% of healthcare spending over the next ten years. He also discussed the need to reduce the cost of clinical trials, as this would lead to a reduction in the cost of drugs.

The Privacy vs. Precision Medicine Conundrum
While precision medicine is an exciting field, there are ethical, legal, and regulatory considerations that need to be dealt with. Susan Wolf, JD, chaired a panel that tackled these issues dead on. Currently, the laws for privacy are behind the scientific advancements. The same laws that protect United States Citizens from medical discrimination are also hampering precision medicine, on both clinical care and research sides.

Other issues that present challenges to precision medicine are assessing the value of return of incidental findings, how to navigate the different rules between research and the clinical domains, what are the rules and who is in charge.

Dr. George Church (a legend in the genome sequencing field) discussed how patients could be the key to solving medical data sharing obstacles. Getting access to one’s medical records is a frustrating challenge for patients in the US. However, should patients get access to their records, HIPAA rules no longer apply, patients have the ability to share their records and data freely. The Affordable Care Act not only promotes patient access to THEIR medical records, it also allows for the reimbursement of costs associated with acquisition. One of the biggest takeaways for during Dr. Church’s talk was when he said, “transparency requires forgiveness”, for me this means that when we do gain access to our records we have to be understanding when we uncover details we were not aware of.

Precision Medicine’s Financial Cost
The final panel of the conference examined the costs associated with precision medicine and how are we as a society going to pay for these advances. During this panel, Dr. Greg Steinberg broke down the current state of precision medicine costs:

  • Cost of sequencing a human genome has decreased from greater than $1 billion to approximately $1 thousand in less than 15 years. (KA Wetterstrand)
  • Genetic testing is less than 1% of total spend, but increasing despite cost/test decreasing.
  • Total spent on targeted therapy can reach up to $500,000 a year per person. (Based upon AWP costs and standard adult dosing)
  • Cancer costs are 20-25% of total spend, but are increasing 2-3x the rate of other costs. (2010 CY Claims; Commercial & Medicare: All Funding)
  • There is a significant basic science knowledge gap between physicians, patients, and payers.

Dr. Kelly added that currently cancer makes up over 50% of cost pipeline. The average cost of a cancer drug is now around $50,000 a year per person. As we move to combination treatments this is likely to double. Something of which is not economically feasible.

Final Keynote

The meeting ended with the last keynote by Dr. Arlene Sharpe of HMS. In her talk she discussed how basic research can jumpstart precision treatments and used her labs work on immunotherapy, discovering the PD-1 checkpoint (learn more in the video below, as an example. Dr. Sharpe imagines that the future of cancer therapy decisions could be based on a tumor immunoecasion score and cancer genome sequencing: identify which oncogenes are drug targets, which mutations are immunogenic. This would allow doctors to choose the best combination of targeted therapy and immuno-vaccine to treat each patient with.

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Other Takeaways:

What was particularly striking to me was that a rallying cry was heard throughout the sessions at Precision Medicine 2015: Patient Driven and DIA annual meeting (another conference I was able to attend in early June) – “We are all patients!” Dr. Susan Love of Dr. Susan Love Research Foundation (and Army of Women, National Breast Cancer Coalition) said that the only difference between a doctor and patient is the diagnosis.

I want to applaud Sonia Vallabh for starting a very important discussion around the need to celebrate patient’s contributions to research and clinical trials.

Dr. Kohane discussed the Undiagnosed Disease Network, a group of clinical and research centers across the US with a mission of diagnosing rare/new diseases, supporting mechanistic studies, and aiding in management strategies for patients

In the end, these areas were identified as “need to address” if precision medicine is going to mature:

  • Institutional review boards (IRB)
  • HIPAA (health insurance portability and accountability act)
  • Optimized search engines
  • Patient registry unification (ex: global unique identifiers (GUID))
  • Electronic medical records
  • Patients rights
  • Economics

While precision medicine has a long way to go, the public has embraced its possibilities and its potential outweighs the risks.

Suggested Readings on Precision Medicine:


Dr. Jennifer Helfer is National Brain Tumor Society’s Associate Director of Scientific Operations 

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