You are unique, and medicine knows it

When a doctor prescribes you a medication you will be in one out of four groups of patients: 1) you might have experience and no side effects, 2) you might experience efficacy with side effects, 3) you might not have efficacy nor side effects, or 4) lucky you! you might have no efficacy yet suffer from side effects.

And your doctor cannot know in which of the four groups you will be before prescribing the medication. That’s life! And that’s medicine today for most people.

But healthcare is changing very fast, and one of the biggest transformations is a change in focus from treating populations to treating individuals.

These are the three big trends you should know that are transforming medicine from treating many to treating you:

Trend #1: rare diseases are “in”

I’ve been working with rare disease patient organizations for the last 5 years and in this short time I have witnessed how collectively rare diseases have gone from being the awkward cousin that few people wants to talk to at a party to being the focus of most presentations at pharmaceutical conferences.

The FDA first released the Orphan Drug act to incentivize the development of drugs for rare diseases (orphan drugs) back in 1983, so it is not new to grant them designations and special treatment in the drug development process. What is much more recent is the increased focus by the pharmaceutical industry due to a combination of financial, research and technological factors.

Financially, it has become unsustainable for most companies to run clinical trials for common diseases. As we have been successful at developing medicines for some of the common diseases, the low hanging fruit is taken and we are left with some extremely complicated areas such as neurology and psychiatry where clinical trials are not just enormous but also likely to fail in most cases. Only a few big companies have the luxury to face the monster.

And on the research and technological front, the industry has now gained much understanding of the genetic and molecular basis of many diseases, guiding the development of new drugs (target-based) and making feasible the optimization of such drugs (high-throughput screening).

Because most rare diseases are also genetic, they now represent the ideal initial indication in which to test an experimental medicine before jumping into larger, riskier and more expensive diseases.

Rare diseases are the stepping stone, the gateway to larger indication, and in the case of smaller drug discovery companies, rare diseases are also a legitimate area of focus where they can develop medicines without needing to partner with large pharma. Win-win territory.  

All these trends means good news if you have a rare disease, because there has never been a time better than now for rare diseases to attract the interest and the funding from the pharmaceutical industry.

Trend #2: Personalized medicine

We already knew that not everybody responds well to the same medications. What we didn’t know was how to predict if you would be a good responder or not to a new medication before trying it on you.

But technology, and in particular genetics and bioinformatics, have made it now possible in some cases to match the best drug with the best patient.

The oncology field was one of the first ones to step into this territory that is known as personalized or precision medicine. Initially patients where treated based on where the cancer has started, such as the lungs or the ovaries. By after noticing that cancer can result from a number of genetic mutations and developing medicines for the most common mutations we can now match those patients with those drugs regardless of where the tumor first started in their bodies, saving many more lives.

In his 2015 State of the Union address, President Obama announced the Precision Medicine Initiative to revolutionize how we treat diseases with the goal to being able to tailor specific treatments to the unique characteristics of the patient, moving away from a one-drug-fits-all approach. This was not the first step in that direction but it certainly was a landmark that made the personalized medicine official and will hopefully also provide the funding necessary for such a groundbreaking challenge.  Next step is not treating diseases but treating patients.

We are definitely entering into an amazing period in healthcare that will transform how we understand and treat diseases.

Trend #3: Pay only if it works

Value and cost are not synonyms. The pricing of drugs is based not on how expensive they are to produce (cost), but on the savings that they bring to society by making the patient healthier and therefore less expensive (value). As we make the mental transition from treating patients on a one-drug-fits-all to looking into individualized treatments, payers are also considering if we should pay those drugs based on the value they bring to each given patient, that is, if we should not adopt a pay-for-performance pricing system, also called value-based payment.

There are multiple challenges for a pay-for-performance model to be adopted, and probably the most basic one is how to actually measure that performance or value and if pharmaceutical companies, regulators and payers will agree on those measurements and what they mean. Paradoxically, tracking those parameters might turn out to have a cost in direct tests and added healthcare complexity that it could offset the potential savings on medications.

So as science runs forward at full speed to help us find the uniqueness of each individual patient and develop the best drugs to treat them, policymakers and stakeholders need to sort out how we will be able to afford those medicines.

Take-home message:

1. You are unique, and medicine knows it.

2. Orphan drugs and personalized medicine are paving the way for the future of healthcare.

3. We still need to figure out the best way to pay for individualized treatments.

Of course not all is happy news and we are also seeing some questionable trends such as “orphanisation”, which is the division of common diseases into subsets in order to claim orphan drug benefits and higher pricing for drugs that could have treated the common disease. On the flip side, orphanisation might be also the perfect strategy to enable drug development by smaller VC-backed firms. These are all open questions as medicine is transformed from treating many to treating you.

I would like to hear your thoughts in the comments.

Ana Mingorance PhD

Originally published in LInkedIn on October 31, 2016

Impatient patients

One day I sent an e-mail that changed my life. During my training as a scientist, I had learned how to study what goes wrong with the brain and to research how we could fix it. Then one day I sent an e-mail to a patient.

There are about 7,000 diseases that are considered rare because less than 1 in 2,000 people have it. It is not like diabetes, cancer, or Alzheimer’s disease, that we have all heard about. Most people have never heard about these rare diseases, and often not even physicians have heard about them.

Because they are not that common, it often takes many years to find the right diagnosis for these patients, with many left undiagnosed for the rest of their lives. And for the lucky ones that get the right diagnosis, the likelihood of having an approved medication for their disease is 1 in 20. Imagine a 1 in 20 chance of getting a medication for your cancer or your diabetes. A horrible thought, isn’t it? That is the scary world where 350 million people with rare diseases live every day.

But a revolution is changing the way we learn about and treat rare diseases, and it is driven not by progresses in medicine but in technology. Technology, powered by next generation sequencing and bioinformatics, is making the diagnosis of rare diseases much easier and faster. And technology, through the explosion of social media, is helping people with rare diseases and their families connect with other families. And that’s when magic happens.

Five years ago I read an article about a small group of parents that had created a patient organization to find a cure for their children, all diagnosed with a rare neurological condition. They didn’t know how, but they certainly knew what. Andthat is some times all you need to start.

Before finishing the article I sent them an e-mail. I knew about the brain, I knew about drug development, I knew languages and people, and I knew I wanted to help them. That e-mail changed my life. Working with patients changed my life, and not just in the way I now approach drug development and my career. It also changed the way I understand life. Because the only thing harder that being confronted with the reality that there is just a 1 in 20 chance of getting a medication for your disease is when the one with the disease is your child. And many have chosen to get together and do something about it.

That’s why I like to call them impatient patients.

The impatient revolution is already changing the way we do medicine. Patient organizations are becoming central members of the research community and key partners in the development of new treatments. The momentum the impatient patient movement has gained in some fields like rare diseases is unstoppable. And they are not doing it alone. Just like the social media that helped them get started, it is people connecting to people that fuels this movement. Impatient people willing to reach out to patients and their advocates and help create the connections and bridges that they need to succeed. Just like a LinkedIn network, every time we connect with a patient organization we expand their reach, and what starts as a rare disease of few individuals soon becomes a large network of 3rd degree connections that spans across industries and society.

And that’s when magic happens, and why I like to call them impatient patients.

Ana Mingorance PhD

Originally published in LinedIn, October 28 2016