May 26, 2012 | Pamela
The idea of personalised medicine still has an air of science fiction about it, but times are changing: we look at how whole genome sequencing is making patient specific treatments a reality.
Last year the Journal of the American Medical Association reported on the case of a 39 year woman who presented with all the classic symptoms of acute myeloid leukaemia [AML], but none of the genetic signs normally associated with it. With the patient’s survival odds sitting at less than 15%, the decision was taken to sequence the patient’s genome and tumour to compare them and find out exactly what was going on. The clinical team was surprised to discover that she had an unusual genetic event, where a segment of one chromosome was inserted into another. This led them to change the course of treatment from the original risky bone marrow or stem cell transplant, to a course of chemotherapy.
16 months later and the patient remains in remission, thanks to genome sequencing and a personalised treatment approach. Without this type of methodology it is likely that the patient would have died, but by seeking to identify the exact cause of her illness and determining how she might respond to a particular therapy, a positive outcome was secured.
This is a really exciting time for the healthcare industry: we are at the threshold of understanding how genomes relate to disease, which is likely to transform the way diseases are treated in the future.
The first applications of personalised therapies are likely to be in the oncology field, and Aridhia itself is at the start of the journey towards the development a more personalised approach to diagnosis and treatment regimes with the cancer related DECIPHER Health project. What was unthinkable a few years ago is now becoming a possibility.
It’s been a mere four years since the first cancer genome was sequenced and while whole-genome and exome sequencing [or WGS and WES, respectively] is becoming increasingly available for research purposes, it’s not yet being routinely used for clinical diagnosis.
Several years ago, when the genomics field was in its infancy, the cost to sequence a single human genome was in the region of $1billion and took months to process. Things are looking somewhat different in 2012, with companies such as Noblegen promising high speed, relatively inexpensive sequencing that will “deliver whole genome sequencing in the [hospital] lab within the financial constraints of the health-care system,” according to CEO Frank Feist. With sequencing now still sitting around the $10,000 – $40,000 mark, and technologies becoming progressively more efficient and less expensive, the vision of a whole genome sequence costing merely a few dollars may soon be a reality.
Currently cancer therapies are typically effective in less than 30% of patients. While the ability to use genome sequencing exists, it is currently too expensive for routine use in clinical diagnosis, which means that our ability to predict response to specific treatment pathways remains in its infancy. The case of the AML patient described above is still an extraordinary event. WGS is a challenging technology, a game changer for one of society’s most fundamental and cost conscious services – healthcare. The ‘one size fits all’ blockbuster drug approach clearly isn’t delivering the results that we would hope to achieve, but it is clear that we are reaching the tipping point where WGS and personalised medicine is moving from a theoretical concept to a reality. The question is, how do cash strapped healthcare providers make the move from mass market treatments to individualisation of care?
This is a big deal – not only the global healthcare community, but to the pharmaceutical industry too. The approaching availability of increasingly personalised treatments has had a direct effect on the industry’s current business model where one drug is developed to treat all. Increasingly we see IT, diagnostic and large pharmaceutical companies working more closely together than ever before to provide patient specific solutions.
The power that the application of genomic data holds for patients with cancer is clear. Little wonder then that we are excited to be part of a revolution that can deliver unparalleled insights into how to target treatments and provide hard evidence as to the effectiveness of personalised medicine.