Precision Medicine: Advancing Patient Care through Genomic Data
/A fundamental shift in medical education is needed in order for doctors and patients to benefit most from advances in precision medicine and information technology. This was the consensus view from the experts at Precision Medicine Leaders’ Summit held in San Diego on the 23rd February.
During a round-table hosted by UK-based clinical genomic analysis software developer Congenica and chaired by Dr. Phil Beales, consultant physician, Professor of Medical and Molecular Genetics at the UCL Institute of Child Health (ICH), and Congenica’s Chief Medical Officer, a range of experts from across industry, government and business discussed some of the most pressing matters raised.
The key messages from the panel were the high need for education and training in all hospitals and clinics in order to keep pace with the shifting face of modern medicine, genomics, bioinformatics, and personalised medicine and to understand the changing needs of practitioners so that research efforts can meet these transitive requirements and the equally evolving role of computational sciences in bioinformatics and interpretation.
Artificial Intelligence in Precision Medicine
The delegates had heard earlier in the day from Atul Butte, PhD, Director of the Institute of Computational Health Sciences at University of California San Francisco, who is working closely with the Chan-Zuckerberg Initiative, on the growing role of computing and A.I. in precision medicine.
“Do you think there really is a place for A.I. in delivering personalised medicine, or is it all just hype?” Asked Dr. Beales.
Rourke Yeakley, “I would say ‘yes’, especially in how it can get rid of bias. One of the things we do in terms of AI is that we bring in research so it’s an integration with clinical information that’s not just based on the patient’s information and thus we get recommended treatment points. Outside of my work in the ER, I also work for an AI company and core to everything we’re trying to do is clinical decision making, specifically trying to understand how we can incorporate genomic data to influence those decisions.”
“You could even eliminate unnecessary tests, a lot of physicians would love to reduce the numbers of tests, but, they worry they may get into trouble for not running these ‘routine’ tests. However, if the AI insisted and its decisions were accepted then malpractice cases would decrease and you would see a reduction in the numbers of tests, a relief to the patient and a burden off the doctor.” Continued Dr. Yeakley.
The human brain is inherently good at recognising big patterns though not always the smaller or more subtle ones. The growths and advances in medicine over the last few decades have been aimed at increasing the amount of data and knowledge to increase the scale of patterns and stratify patients but modern advances in genomics and increasing focuses on rare diseases have brought small deviations and small patterns to the forefront. Whereas even the most experienced specialist may only be able to remember a few hundred patients and their symptoms, a competent A.I. system could bring to the fore patterns and clues from entire datasets with a fraction of the time and resources.
“I like that idea, A.I. is there to help, to support – it is not replacing anyone or anything it's simply helping out and raising the limitations on what’s possible.” Summed up Nick.
Adoption of New Technologies
The delegates went on to discuss adoption of such technologies. For instance adoption of electronic medical records in the UK National Health Service (NHS). “Explaining to the NHS why they need electronic medical records is one thing. Long gone are the days of people being born in Edinburgh and dying in Edinburgh – they need communication between the different NHS systems, especially now that they’re devolved. But, explaining the value in it rather than the cost of it can be another thing.” Said Hilda Mwangi who is a U.S. based, International Business Development Officer for the UK government’s Department for International Trade.
“In the UK, with the 100K genomes project, the only reason it worked as well as it did was because there was a mandate,” responded Nick Lench, Congenica’s Chief Operating Officer.
“But what propels that mandate?” Asked Shikha O’Brien, Congenica’s Chief Business Officer, “it’s money. Unless people see profitability in something or, at least, it equates to value for them, it’s never going to get done. The system has to show that there is monetisation on that value. What the industry needs is validated studies, so, I think it is yet to be demonstrated, this integration of all of this data put together in one seamless way that can benefit the patient. Then, that is when the NHS or organisations like the NHS outside of the UK are going to see value in it.”
“I think part of it has to come from industry and doctors and the growth of private hospitals will drive that. If the private hospitals show profitability and better healthcare because of, for example, connected records – would that push the NHS to do it?” Posited Ms. Mwangi, adding, “So, this is where industry has to step in to engage systems like this for their patients or their parts of the NHS. Sure, the conversation will come back around to cost and value but that is where companies like Congenica can come and get involved in those discussions between physicians and organisations.”
Defining the Transition to Precision Medicine
“The great thing is that we’re the generation that’s defining this transition and we can be the people that define what needs to get taught and how it will get taught. It’s not just genetics, its regulatory, its compliance, it’s the outcomes, for example, how do we handle secondary findings? It’s just so much about amalgamation of all this information.” Stated Shikha O’Brien.
“This is the transition we’re going through right now and it is about education and knowledge around genomics and how it needs to be brought deeper into the standard curriculum. This isn’t a new debate, I attended a conference last year at Stanford and the main topic there was also – ‘how education needs to incorporate more genetics’.” She continued.
“I think that’s where you have to take it into the schools and colleges. You have to educate the kids and then the kids grow up and go on to university and they’re ready for the change, some of them may even be the change. However, if you are already a physician practising primary care what’s the motivation to learn about genomics?” Said Nick Lench. “There are multiple generations involved in this.”
Dr. Beales said: “So, in many ways we’re moving beyond genomics now. We’re here at a precision medicine conference and it's more about looking at longitudinal data on individuals and applying that to their individual health care to make it personalised.”
“But where does this data go?” Asked Shikha, “does it get channelled back into clinical trials? Does it become part of something else either in the wider industry or at the specific hospital? We don’t know but when we do have this kind of data it is often a retrospective analysis. How can we be prospective about such things, especially now that we are in the genomics era? How, as a community or an industry, do we get together and bridge that gap with genomics, pharmacogenomics and pharmaceuticals to then hand that information to a practising physician in a form that can be of direct benefit to their patients or institutions?”