In May 2013, movie star Angelina Jolie made headlines with a bold announcement: The 39-year-old had chosen to have her breasts surgically removed after a genetic test had revealed a mutation in a gene called BRCA1 (pronounced “braka-one”), a known marker for increased risk of developing cancer of the breast and ovaries.
The preventative surgery, Jolie wrote in the New York Times, reduced her risk of developing breast cancer “from 87 percent to under 5 percent.” Her public stand won the actor widespread support. It also showcased an emerging field of healthcare: personalised medicine.
Personalised medicine uses a person’s individual genetic code to identify their risk of developing certain diseases. It holds the key to performing targeted preventative screenings for diseases, as well as prescribing tailor-made courses of treatment that favour medicines proven to be compatible with the patient’s DNA.
It’s a promising new world, powered by genetics. And it all starts with genetic testing, also known as DNA sequencing, a field that has grown by leaps and bounds since US scientists first mapped the human genome in the year 2000.
The rise of personalised medicine is directly related to the increased access to genetic testing. While mapping the first human genome cost US $3 billion in research funds, current DNA tests start at $1000 per patient.
To no surprise, the global market for DNA sequencing is forecast to grow to US $6.6 billion over the year 2016 at an annual growth rate of 17.5%, according to a Transparency Market Research report.
Nominated for an 2014 EIA, a new device is taking DNA analysis into the mobile realm: A USB stick decodes a patient’s DNA within minutes using organic semiconductors and sensors. This so-called “lab on a chip” was invented by Christofer Toumazou, a professor of electrical engineering at the Imperial College London.
The main focus of personalised medicine currently lies with prevention based on genetic testing. When patients test positive for certain markers – for instance disease-causing mutations in the BRCA1 and BRCA2 genes linked to breast and ovarian cancers – doctors can offer several courses of action.
Preventative measures range from increased screenings for diseases at far more frequent intervals than regularly advised. Prevention goes all the way to preventative removal of organs, as in the case of Angelina Jolie.
A revolutionary approach to disease prevention has been brought into clinical practice by biochemist Thomas Tuschl, currently a finalist for the EIA 2014: So-called RNA interference is able to stop – or “silence” – those genes responsible for creating disease-causing proteins, halting disease before it occurs. The approach is used to develop next-generation treatments for a variety of diseases and conditions.
Overall, the lines between diagnosis, prevention and treatment are blurring in personalised medicine. Ideally, all three segments work hand-in-hand, equally analysing genetic data and creating new genetic data as they progress.
The intersection of diagnosis and treatment becomes apparent in the success story of a novel treatment against chronic myelogenous leukaemia (CML), winner of the 2009 EIA in the category Industry. Developed by scientists J. Zimmermann and B. Druker, the treatment zeroes in on a genetic abnormality found in 95% of patients with CML, named the Philadelphia chromosome.
When patients test positive for this chromosome, doctors initiate treatment with Glivec, a drug aimed at shutting down the underlying protein mechanism behind the CML.
Targeted treatments can also be formulated based not on the patient’s DNA, but that of cancerous tumours: For breast tumours containing the so-called HER2-protein, the “humanised” antibody drug Herceptin has become the targeted treatment of choice. Introduced in Europe in 2000, global sales of Herceptin have grown to US $6 billion in 2012.
When it comes to creating new drugs in the lab, humanised antibodies are emerging as the building blocks of the future. Nominated for an EIA in 2014, researchers Cary L. Queen and Harold Edwin Selick have invented humanised antibodies that contain at least 90% human components. Resulting treatments – currently including 15 approved cancer drugs such as Herceptin, are much less likely to cause adverse immune reactions, making them radically more effective in warding off cancer and other diseases.
As a DNA-based alternative to transplanting donor organs, German inventor Karlheinz Schmidt devised a method to grow body parts by using living stem cells as engineering materials. A finalist for the European Inventor Award in 2007, this “tissue engineering” method is opening the door to organ replacements based on the patient’s individual DNA profile.
The future of personalised medicine largely hinges on two factors: Increased accessibility of DNA testing – ideally through low-cost tests, covered by insurance providers – and heightened understanding of DNA markers associated with diseases.
Current initiatives to advance the understanding of genetics in the formation of disease include the Cancer Genome Atlas, a collection of 20 000 tissue samples from more than 20 cancers.
In Estonia, the EstonianGenomeCenter at the University of Tartu has set an ambitious goal: Started in 2000, The Estonian Genome Project wants to create a biological database and biobank containing the genetic data of Estonia's population of 1.4 million.
The scope of DNA data collection and the understanding of the genetics behind disease formation are growing broader and broader. Meanwhile, the future of medicine is zooming in more closely on a new focus: The individual patients, free to make informed choices about their personal disease prevention and treatment.