Although there is still a big need for education, patients are more informed about the use of genetic information in diagnosis and treatment than ever before. Richard Lumb discusses whether the field of medicine will be ready for patients as they start to demand the use of genomics en masse.

Many of us share the same mission: to deliver the benefits of genomics to patients faster. It’s a laudable ambition, but it’s one that is very hard to put into practical steps. Fundamentally, it comes down to this: From this point in time, what specific steps need to be taken to achieve true genomic medicine? To get to the point where the use of genomic information is relevant and meaningful for the masses. Not just people in the big cities. And not just people with the most money. EVERYONE.

There’s one big over-riding problem: there is no single, universal roadmap for genomic medicine.


Thankfully there has been some great work in the area, particularly coming out of the National Human Genome Research Institute (NHGRI). Perhaps the most comprehensive outline so far was an article written in 2013 by Teri Manolio et al, from the NHGRI (1). Building from work conducted in genomic medicine symposia, the article presents common challenges, infrastructure and research needs for the introduction of genomic medicine programs into clinical practice. An earlier influential paper, covering similar ground, was written by Eric Green and Mark Guyer, also of the NHGRI in 2011 (2). It’s perhaps best remembered for describing progress in five different domains of genomic research, the most productive schematic representation of historic and future progress in genomic medicine that I’ve seen to date. It also simply and accurately describes some of the basic imperatives around not just genomic medicine, but bioinformatics and computational biology, education and training, as well as society. So why can’t we just put all that stuff into a roadmap, and follow it all the way home?


I sat down with Eric Green at the recent 2014 ASHG meeting in San Diego. He pointed out to me that we hit surprises all the time. And not all of those surprises are scientific. For instance, there are obvious examples in the policy arena, many relating to the FDA, that have been difficult to anticipate. In reality, the political, economic, and legal landscape differs around the world. For instance, a 2008 publication from Segiun et al (3) reviewed the situation in Mexico, outlining the requirement to step-up the development of a knowledge-based economy in Mexico. It covered different ground. Not least because the paper also discussed another critical factor: political will. The formation of Genomics England in the UK is arguably the best-known example of powerful, forward-looking, political will turning into investment and action. Yet political will differs not just across different countries, but also within countries, over any given period of time. Priorities change with governments, public opinion, and available budget.


So what does this mean for a universal roadmap that everyone can follow? Well, it means that putting one together is tough. Amid all of the optimism and excitement around genomics, there are some nasty looking clouds on the horizon. We’re in an increasingly educated and connected world. Healthcare systems are stretched. Patients and their families no longer solely rely on their doctors for advice. They’re turning to the internet: support groups, patient advocacy organizations, charities, crowd funding, and also scientific literature. They’re looking for support, yes, but also solutions. And hope. In 2009, my father died of mesothelioma, a type of cancer commonly caused by exposure to asbestos. I started Front Line Genomics because I wanted to understand why progress in understanding the genetic basis of mesothelioma hadn’t led to better diagnosis and treatments for people like my dad. I’m not the only relative of someone with a serious illness asking similar questions. I recently told my family doctor that within three years people would be coming to him with their own genetic information. He looked puzzled and told me it would never happen. Yet this month’s UK launch of 23andMe’s Personal Genome Service means that it’s not going to take as long as three years. It’s happening now, and doctors are not ready. The repercussions are frightening. Somehow, genomic medicine needs to do more to keep pace with progress in genomic research. Education is the critical starting point, and that’s where I’m focusing my business right now: supporting the flow of information and raising discussion points that will help take genomics to the front lines.

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