Precision medicine is the logical outcome of modern healthcare
There is one phrase, which is not part of the Hippocratic Oath, but everyone in medicine knows it. Primum non nocere, meaning “first do no harm”. Beyond the commitment to healing, this is the second most important bastion of healthcare – and the requirement at the core of precision medicine.
In the previous centuries, healthcare focused mainly on working out generalized solutions with which the biggest ratio of ill people could be treated. If cough syrup was good for the majority of the coughing masses and only two people had a rash as an allergic reaction to it, there was no question about treating sore throat with cough syrup. Experience and empirical evidence on a generalized basis was the working method of the medical community since Hippocrates until around the beginning of the 20th century.
With the refinement of diagnostic tools, the detection of viruses or bacteria, the development of new pharmaceutics and medical methods, healthcare has been going through sweeping changes since the start of the last century. The experience-based and somewhat “trial-and-error” approach of medicine made place for evidence-based medicine. As a consequence, physicians not only prescribed some pills because their ancestors also used these drugs, but they proved the efficacy of treatments and diagnostic methods with the help of scientific tools, e.g. clinical studies. They mapped extensively why sore throat is best treated with cough syrup; and started to analyse the side effects of it. So, people with an allergic reaction got to know that they should rather not use it, but turn to an alternative.
We know this from the current praxis as well. The medical community use a certain method or pharmaceutical product, if evidence is strong enough. Let me tell you, how precision medicine goes even further.
What is exactly precision medicine?
Precision medicine enables the medical community to fulfill the age-old requirements of healing and doing no harm at the same time. As the National Institutes of Health (NIH) said, it is “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle for each person.” This approach will allow doctors and researchers to predict more accurately which treatment and prevention strategies for a particular disease will work in which groups of people. If you think about your blood type, the first example of precision medicine, you already have an idea about its importance. Researchers discovered human blood groups in the early 1900s, and it is one of the most important medical information ever since.
The end of “one-size-fits-all”
As disruptive technologies such as cheap genome sequencing, big data analytics, deep learning appear on the stage of healthcare, it becomes possible to get down even more deeply to the roots of diseases and treatments. The “one-size-fits-all” strategy will definitely start to crumble. It is the logical result of hundreds of years of medical research and accumulated knowledge. Currently, we know that everyone has a different genetic code, may react differently to pharmaceutics or may have a completely opposite reaction to treatment as assumed. So why should we treat everyone with the same drugs or with the same method?
However, precision medicine is not only about targeted treatments, but also about a transition in the approach of physicians as well as patients. Med students and residents do rarely have the opportunity to study precision medicine in medical schools. Moreover, the highly hierarchic and experience-based teaching methods rarely incorporate it into the life of new medical professionals. But precision medicine also implies a new relationship between patient and caregiver; which rather represents an equal partnership than the superior-subordinate-like relationship prevailing currently. While there is a myriad of treatment options, patients have different genetic backgrounds, metabolize drugs differently, make different lifestyle choices and have distinct life goals. The more relevant information the patient can bring to the doctor’s attention, the more personalized they can make the treatment together. This is why proactivity from the patient’s side is imperative, and why the doctor-patient relationship will move into a rather equal rapport.
Now, let’s see how it works at such a demanding and sensitive area as treating cancer.
Cancer is a brutal disease…
According to the statistics of the Cancer Research institute in the UK, in 2012, an estimated 14.1 million new cases of cancer occurred worldwide. It is an insanely huge number! As if the entire population of Guatemala got the disease at once! However, not only the figures of new cases look so gloomy. In 2012, an estimated 8.2 million people died from cancer worldwide – the entire population of Switzerland, if you like.
And while the four most common cancers – lung, breast, bowel and prostate cancer – account for around 4 in 10 of all cancers diagnosed worldwide, there are many cancer types, where the disease has so many variations as the number of patients themselves. As a consequence, it is extremely difficult to treat it with the old methods.
…but chemotherapy is no less disagreeable
As it is commonly known, cancer occurs when cells refuse to die and keep multiplying in various places in our bodies, while hiding from our immune systems. Currently, the most effective treatments against cancer comprise of various forms of radiation and chemotherapy, which stop the regeneration procedure for cells. The problem with chemotherapy and radiation is that it cannot be utilized in targeted ways. It means that they also affect the functioning of healthy cells, which has serious, sometimes even life-threatening side effects. The solution would be to find a method only targeting cancerous cells, reducing side effects as well as supporting longer survivals.
Disruptive technology offers out-of-the-box solutions
In case of cancer, timing is everything. If the disease is discovered in its early stages, the chance for survival is significantly higher as later. Every day counts. Although physicians are also aware of this, it is still difficult to introduce innovations. The reason is the operational logic of such mammoth-like bureaucratic systems as the regulatory environment around healthcare, as well as the natural suspicion of the medical community towards novelties.
However, technology has changed the equation. As it becomes more and more disruptive and accessible for people worldwide and patients are actively seeking help against this ugly disease, solutions beyond the framework of healthcare systems have piled up. For example, companies started to offer direct-to-consumer therapies; communities started to share their experiences and their own solutions regarding various diseases. Social media communities for sharing information about cancer and cancer research are growing; and it is no different in other areas of healthcare. A good example is how the diabetes community tackled the first bionic pancreas in the #wearenotwaiting movement.
Genetics, genomics, nanotechnology and targeted treatment against cancer
In oncology, there are various trends in fighting against cancer with more precise methods as before. On the one hand, researchers experiment with drugs that directly attack cancer cells without damaging other tissues; for example in treating cervical cancer. On the fast developing area of nanotechnology, Swedish researchers have developed a technique that uses magnetically controlled nanoparticles to force tumour cells to self–destruct without harming surrounding tissue, as radiation and chemotherapy does. It is primarily intended for cancer treatment, although it could be used for other diseases including type 1 diabetes.
On the other hand, medical experts try to incorporate genetics into the fight against cancer to be able to offer the most personalized treatment ever. It is mind-blowing that you already have the possibility to send your biopsy sample from the primer tumour tissue to a company for analysis. They extract the DNA of cancer cells, sequence its code and try to find mutations for which there are available clinical trials and treatments. Genome sequencing giant, Illumina offers the examination of known mutations in cancer-related genes in order to reduce the costs of treatment and do complete studies more quickly. Another trail of research concentrates on the so-called liquid biopsy. It is basically a blood test, which is able to detect all types of cancer from a very early stage. Illumina has also formed a spin-off company called GRAIL to experiment with this blood test, and there are several other companies doing so.
Tech giants, such as IBM, Google and Microsoft as well as a series of start-up, such as the Hungarian Turbine represent yet another direction in cancer research. They are building artificial intelligence solutions to design personalized treatments for any cancer type or patient faster than any traditional healthcare service. In case of IBM, they launched Watson for Oncology to help cancer research; Google has its Deepmind Health project; while Microsoft’s research machine-learning project, dubbed Hanover, aims to ingest all the papers and help predict which drugs and which combinations are the most effective.
The Swiss company Oncompass offers oncological biopsy analysis in order to provide better personalized treatment plans for each cancer patient. The Boston-based Veritas Genetics offers whole genome sequencing, interpretation and genetic counselling for $999 for anyone. They also provide the $299 myBRCA HiRisk test, which gauges 26 genes associated with heightened predisposition for breast, ovarian and other associated cancers. The UK-based start-up, Oxford Nanopore Technologies promises to further raise the stakes. They offer real-time, out-of-the-lab DNA sequencing, which made it possible to carry out offline DNA sequencing of environmental samples on Antarctica using only a hand-held device. Mind-blowing!
Guidance is needed to navigate in the jungle of precision medicine
As the demand is incredibly high for companies offering direct-to-consumer solutions in targeted cancer treatments, their number is growing day by day. Thus, it is getting more and more difficult to figure out to which start-up to turn to or which product to choose. This is exactly the reason behind such initiatives as Precision Medicine for Me. This grass-root information pool collects patient organizations, advocates, start-ups and industry leaders to share with patients which treatment options are the best for them based on their personalized data.
They do what physicians and decision-makers are supposed to do. But as regulators and the traditional healthcare setting is too slow for them, they are not waiting. They are rather trying to find their own way out of disease as soon as possible.
Where are the governments hiding?
There were already efforts to incorporate precision medicine into mainstream healing practices. In the US, during his presidency, Barack Obama announced the Cancer Moonshot, an effort to find a cure for cancer; as well as the Precision Medicine Initiative, a bold research effort with the aim to offer the benefits of targeted treatments to every American. These two strategies together held the promise of transforming cancer into a manageable chronic disease in the future in the United States.
However, President Trump proposed significant budget cuts in March 2017 to the US National Institutes of Health for next year. Although it’s unclear exactly how those cuts would directly impact personalized medicine, researchers and precision medicine advocates raised concerns. They believe it would have a broader impact on efforts to advance precision medicine. I believe it would be very sad to see a U-turn in the US regulatory efforts. As scientific and technological development is unstoppable, the primary task of regulators would be to foster research and enable regulated access to the latest innovations.
Not the US is the only geographic location, where precision medicine got into the view of decision-makers. In March 2012, as swarm of healthcare experts and patient advocates established the European Alliance for Personalized Medicine. It is calling for the European Commission, the European Parliament and EU member states to help improve the regulatory environment so that Europe’s patients and citizens can have early access to personalized healthcare; and public health research receives appropriate support. At the moment, they are organizing their first congress of scale to be held in the Northern Irish capital, Belfast in order to promote their regulatory agenda.
Is precision medicine over-hyped?
Many critics of the latest medical innovations have the argument that some technologies are over-hyped and we always have to be careful with innovation. It is true that the media, developers and supporters of digital health or technological advancement tend to get overexcited about new innovations and some fall in the trap of over-hyping. Such stories as the short-lived fame and fall of the blood-testing company, Theranos do not help either.
In December 2016, The Atlantic magazine published an article arguing against the over-hyping of precision medicine. Although the author is right about the adverse effects of overhyping, it is completely wrong about the prospects of precision medicine. It ignores the fact that what used to be a brave statement before about the future of medicine has become technically possible with new technologies. Genome sequencing costs hundreds of dollars instead of millions. Cancer cells can be extracted from the patient’s blood instead of the need for a tissue biopsy. Deep learning algorithms can look for associations between mutations and treatments faster than what the entire medical community could find together.
Thus, I truly believe that precision medicine is not a hype or an empty promise, but it is the only viable future for healthcare if we want to fight against cancer successfully.
As long as someone is not involved either as a patient or a family member in the devastating battle against cancer, it’s hard to appreciate what precision medicine can bring to us (earlier diagnosis, better treatments, less side effects, longer survival or even the cure). In order to spare people from going through what cancer patients and their families are going through, precision medicine is the way to go.