20 December 2016
The Garvan Institute of Medical Research hosted international speakers Dr Stephen Kingsmore (Rady Children’s Institute for Genomic Medicine, San Diego) and Dr Richard Scott (Genomics England) for the inaugural Annual Australian Clinical Genomics Symposium on 19 and 20 November.
The event brought together more than 120 genetic specialists, clinicians and health professionals from across Australia to explore the challenges and opportunities of genomic medicine and learn from best practices in Australia and overseas.
Garvan initiated this event as part of its commitment to develop precision healthcare capabilities in Australia, which is underpinned by the routine use of genomic information in patient management.
Dr Stephen Kingsmore, world record holder for the fastest genetic diagnosis and leader of a team focusing on rapid sequencing of newborns and children, spoke at the symposium about his team’s approach.
Dr Kingsmore is President and CEO at Rady Children’s Institute for Genomic Medicine. He is implementing rapid genome sequencing in neonatal and pediatric intensive care units (NICU/PICU) at Rady Children’s Hospital in San Diego.
His team employs a rapid approach, with a time from enrolment to diagnosis in as little as 68 hours. This speed is essential in the NICU and PICU, where every day counts in saving a sick child’s life.
In his talk at the Symposium, Dr Kingsmore discussed strategies for implementing genomic medicine broadly in NICUs and PICUs, as well as the evidence needed to get genomics ready for the “prime time”.
Integrating genomics into standard care will require more high quality research, particularly randomised controlled trials, to build on the existing evidence.
“We need to work together to drive the evidence base to identify who will benefit from this, and provide persuasive evidence to move colleagues,” said Dr Kingsmore.
Gathering evidence and experience from a range of settings will also be important, as there is no ‘one size fits all’ approach to genomics. As they work with acutely ill children, the Rady Children’s Institute team have customised their sequencing and interpretation pipeline for speed.
“We wanted to be an innovation engine in the children’s hospital to bring genomic medicine to the bedside,” said Dr Kingsmore, “we wanted to do this in a way that we would be able to translate our findings to every other children’s hospital in the world.”
Dr Kingsmore is currently working with Illumina to further optimise their processes for the NICU and PICU settings.
Currently about 44% of the cases that his team sequences have actionable outcomes. Turning a diagnosis into improvements to a child’s care is aided by integrating the genomics team with the clinic.
“We thought it was pretty important to have all our team as close as possible,” said Dr Kingsmore, “we’ve put together a genomics SEAL team, who can swoop in on any baby who needs it.”
While this requires significant resources, Dr Kingsmore sees genomics as economically viable considering the usual cost of a NICU or PICU stay.
Australia could be one of the leaders in advancing genomic medicine, according to Dr Kingsmore, who commented that the country is “clearly a forerunner in terms of some very innovative programs, some very high quality publications, and a lot of excitement.”
Dr Richard Scott, Clinical Lead for Rare Disease Genomics England, shared insights into delivering a national genomics program and building connections between researchers, the clinic and industry.
Dr Scott spoke about the rollout of Genomics England’s 100,000 Genomes Project, a world-first initiative that will sequence genomes from around 70,000 National Health Service (NHS) patients and their families, focusing on individuals with rare disease or cancer.
The Rare Disease program is currently recruiting an average of 400 people per week. Genomic testing can provide a diagnosis for patients and their families, who may have endured years of uncertainty, invasive testing and ineffective treatments.
In his talk, Dr Scott discussed how the 100,000 Genomes Project is overcoming the challenges of embedding genomics in the NHS, so they can get the best results out of every genome.
“One of our real themes is mainstreaming genomics in rare diseases and some of the adaptations that we’re having to make in our healthcare system to deliver that…particularly around delivering results to clinicians who aren’t used to receiving genetic results, let alone whole genome results,” said Dr Scott.
As this field is new to much of the health workforce, there is a clear need for education around the science and technology, as well as development of skills like interpreting genomic reports and discussing genomics with patients.
Multidisciplinary team meetings at participating hospitals are already bringing together genetics specialists and other clinicians, allowing them to learn from each other. This is supplemented by a range of more formal education.
Running a project on this scale requires a balance between national efficiency and local contexts. To achieve this, Genomics England has centralised their sequencing, data storage and bioinformatics processes. Yet local teams make sense of this data so that it is personal to each patient.
“[Genomics England’s] role is not to do everything, it is to facilitate and it’s to interact with other agencies who are better placed to do certain aspects,” said Dr Scott.
A key part of this facilitation is building partnerships between research, industry and the clinic. These are ultimately intended to improve patient care, by bringing scientific and medical discoveries into the clinic faster. Genomics England also hopes that these efforts will kickstart a genomics industry in the UK.
While some were initially sceptical about such collaboration, Dr Scott’s work “spans the space between the clinic, into research and pharma,” who fundamentally “want the same things.”
Dr Scott believes that these efforts are key to bringing genomics into the mainstream. “I think genomics will just become a normal part of clinical practice. We’ll stop thinking about it as something just for the exceptional circumstances. What we have to do is establish the systems to allow that to happen.”
Garvan and Genomics England signed a memorandum of understanding in September 2015, with the aim of advancing genomic medicine in Australia and the UK. The two organisations agreed to work together to make genomic information more accessible, meaningful and usable.