5 Questions for Mark Caulfield, Chief Scientist, Genomics England

Mark Caulfield, FMedSci, is a chief scientist and board member at Genomics England, an organization which provides investment and leadership to increase genomic testing research and awareness. Caulfield is also the director of the William Harvey Research Institute and was elected to the Academy of Medical Sciences in 2008. His particular areas of research are Cardiovascular Genomics and Translational Cardiovascular Research and Pharmacology. We recently sat down with him to discuss genomic sequencing as well as insight into a current research project.


Intel: What is the most exciting project you’re working on right now?

Caulfield: The 100,000 Genomes Project is a healthcare transformation program that reads through the entire DNA code using whole genome sequencing. That’s 3.3 billion letters that make you the individual you are. It gives insight into what talents you have as well as what makes you susceptible to disease. My research is focused on infectious disease and rare inherited diseases such as cancer. Technology can bring answers that are usable in the health system now across our 13 centers.

When studying rare disease, the optimal unit is a mother, father and an affected offspring. The reason is that both parents allow the researcher to filter out rare variations that occur in the genetic code that are unrelated to the disease, focusing in on a precise group. This project will result in more specific diagnosis for patients, a better understanding of disease, biological insights which may pave the way for new therapies and a better understanding of the journey of patients with cancer, rare disease and infection.

Intel: How does this project benefit patients?

Caulfield: By building a picture of the entirety of the genome or as much as we can read today, which is about 97.6 percent of your genome, we have a more comprehensive picture and a far greater chance of deriving healthcare benefits for patients. Cancer is essentially a disease of disordered genome. With genomic sequencing, we can gain insights into what drove the tumor to occur in the first place, what drives its relapse, what drives its spread and other outcomes. Most importantly, we can understand what drives response to therapy. We already have good examples of where cancer genotyping is making a real difference to therapy for patients.

Intel: What is the biggest hurdle?

Caulfield: Informed consent is essential to the future application of the 100,000 genomes project. It’s very hard to guarantee, that you can absolutely secure data. I think it’s the responsibility of all medical professionals like myself in this age to be upfront about the risk to data access. Most patients understand these risks. We try and keep patient data as secure as is reasonably possible within the present technological bounds.

Intel: What is crucial to the success of genomic sequencing?

Caulfield: We need big data partners and people who know how to analyze a large amount of data. We also need commercial partners that will allow us to get new medicines to patients as quickly as possible. That partnership, if articulated properly, is well received by people. Once we have this established, we can make strides in gaining and keeping public and patient trust, which is crucial to the success of genomic sequencing.

If you want public trust, you must fully inform patients about the plan. Ensure their medical professionals understand that plan and that patients are bought into a conversation. This allows the patients and the public to shape your work. Sometimes in medicine, we become a little remote from what the patient wants when in actuality, this is their money. It should be their program, not mine.

Intel: What goal should researchers focus on?

Caulfield: With this large amount of data comes the need to process it as quickly as possible in order to provide helpful results for both the patient and care team. Intel’s All in One Day initiative is an important goal because it accelerates the time from when a person actually enrolls in such a program to receiving a diagnostic answer.

The goal is to get the turn-a-round as fast as possible. For example, if a patient has cancer, that person may have an operation where the cancer is removed. Then the patient would then need to heal. If chemotherapy were needed, it would be important to start that as quickly as possible. We have to use the best technology we have available so we can shrink the time from involvement to answer.