The Big Key

Health research and biotech companies are continuing their work of measuring the human. What opportunities do personalized medicine offer?

DNA, © gettyimages, SERGII IAREMENKO/SCIENCE PHOTO LIBRARY
© gettyimages, SERGII IAREMENKO/SCIENCE PHOTO LIBRARY

The base: With some 20,000 genes, the human genome is average in size—some animal species possess more than 50,000.

It took a long time before Mila’s parents were given a name for their daughter’s condition: Vogt–Spielmeyer disease. Mila, then six-years-old and formerly a happy, lively little girl, was already blind. She had lost her vocabulary, severe cramps regularly shook her body, and she could no longer walk without help.

Vogt–Spielmeyer disease, also called Batten disease, is a very rare neurodegenerative illness. In Germany, the prevalence is only 1 in 143,000 births. The disease is incurable and the life expectancy is six to 20 years. But in Mila’s case, within eight months a team of doctors from Boston found the genetic cause of her illness and developed a drug that would halt the disease’s progress.

It has been 20 months since Mila began her treatment, and she no longer has seizures. She can also feed herself instead of relying on feeding tubes. In good moments, she laughs just as she used to. This innovative drug is called Milasen—named after Mila, the only person being treated with it.

The opportunities of personalized medicine are also its greatest challenge.

Mila’s case, which was recently described in the New England Journal of Medicine, is an impressive demonstration of the efficacy of personalized medicine. Also called precision medicine, it is a completely new approach to viewing and treating diseases. Earlier, almost everyone with the same symptoms received the same medicine. Already today, work is being done to tailor drugs and treatments to the body, metabolism, and genome of each patient.

A treatment unique to each and every individual: personalized medicine like this is to be found in the annals of science fiction along with flying cars and robotic butlers. And just as with the other future technologies, for many years now, there has been a promise that the vision will soon become reality.

That will mean greater efficiency in the healthcare system, but perhaps also higher costs. A treatment such as the one Mila receives could cost several million dollars. The opportunities personalized medicine present and its focus on individual patients are equally its greatest challenge: Each patient is an individual case.

However, on closer examination, personalized medicine means special treatment for individual patients only in exceptional instances, as is the case of some immune therapies. More often, patients are assigned to a subgroup, and among the treatments available, receive the one that most closely matches their case; Experts talk here about “stratification.”

In the long term, personalized medicine should in fact lead to cost reductions, according to Friedrich von Bohlen, Managing Director of dievini Hopp Holding, which is one of the companies in the biotech portfolio of SAP founder Dietmar Hopp, who has invested billions in the industry. “First, the latest technologies are constantly lowering the cost of the sequencing of genomes and all the other ‘-omes.’ Second, the pharmaceutical industry has been able to significantly reduce what it spends on developing drugs,” he says.

This is reflected for example in the cost of sequencing a single human genome – an indispensable part of personalized therapy. While the first project on sequencing human genomes was a mammoth task that required $2.7 billion and 13 years, the cost has now fallen more than exponentially. Today, commercial online providers can sequence an individual’s genomes for around 1,000 dollars.

In the effort to continue to make such progress, fast, non-invasive diagnostics are just as important as automated laboratory processes. Treatment and diagnostics work in tandem, as a position paper of the Berlin-based Verband forschender Pharmaunternehmen (Association of Researching Pharmaceutical Companies) indicates. Personalized medicine is not an end product but rather, a process that is primarily based on knowing the characteristics of each patient as much as possible. Before each treatment, blood, tissue, and bone marrow tests must be made.

However, the next-generation diagnostics quickly generate gigantic amounts of data that must be stored and interpreted. That calls not only for modern, automated laboratory equipment, but also for the relevant algorithms and programs to evaluate test results. For this reason, so-called bioinformatics has become a well-established stand-alone branch of computer science, and is becoming increasingly important. “Digitalization thereby changes the physician’s role and the doctor-patient relationship,” said von Bohlen.

The cost of drug development will be significantly reduced. Friedrich von Bohlen, Managing Director, dievini Hopp holding

Laboratories are becoming computer laboratories. Medicine, biology and computing converge. Big Data applications become more and more important—not only in the treatment itself, but also in the development of new drugs. In the future, according to von Bohlen, “with a few clearly profiled patients, the efficacy, safety, and benefits of drug candidates can be demonstrated in small, shorter-term studies with greater chances of success”. He says this will significantly reduce the cost of drug development, which amounts to more than two billion Euros per new drug today. As of September 2019, more than 70 active ingredients have been approved for personalized medicine in Germany, and in the USA, there are over 100.

It is well known that drugs do not to have the same effect on all people, says Hans Lehrach. A former director of the Max Planck Institute for Molecular Genetics, he played a key role in the Human Genome Project and has founded more than a half-dozen biotech companies. In Lehrach’s opinion, the medicine of the future must no longer work according to a principle of one size fits all, but instead, take a much closer look at diseases.

IVF, © gettyimages, nevodka
© gettyimages, nevodka

The solution: In personalized medicine, diagnostics and treatment work in tandem.

Tumors, for example, can have very different mutations, which means diseases that appear similar such as breast or colon cancer would require different drugs for different patients. These drugs also influence metabolic processes that can differ from person to person. According to Lehrach, even large clinical studies can only marginally predict a drug’s success in individual cases. After all, the studies represent an average of hundreds, if not thousands, of people. “It’s as if someone said, ‘Your left arm is broken but we’ll put a cast on the right one because clinical studies indicate that more right arms are put in casts,” said Lehrach.

Through the Future Health Initiative, which he founded, Lehrach is dedicated to developing a “digital twin.” The theory is that a patient is also a databank consisting of gigabytes of information about their individual health history, their own genome, and any metabolic anomalies. The digital twin represents a real person and can be used as a virtual guinea pig if desired. Before prescribing the real person drugs, the physician can test different treatments on the computer twin.

When one day digital copies exist for millions of people, clinical studies can be carried out on an army of virtual patients without any harm to real people. Perhaps the package insert, which warns of possible side effects, will no longer be required—because the way every single organism reacts to an active ingredient will already be known.

With over 1,100 exhibitors and more than 35,000 visitors, analytica is the world’s leading trade fair for laboratory technology, analytics, and biotechnology. “The industry is preoccupied with the megatrends of digitalization and interconnectivity,” says analytica Exhibition Director Susanne Grödl. “That is why we are expanding the Digital Transformation Forum both in terms of area and content.”

In addition to keynotes, there will be a special show in Hall B2, in which companies can give live presentations on their concepts for digital transformation. Additional highlight: With a VR headset, today’s analytica visitors can experience the smart lab of tomorrow. The analytica conference, which takes place at the same time, interconnects industry and science on the highest level.

By Michael Moorstedt. The article was first published in our Messe München Magazine 02/2019.