In August 2016, I was offered the position of Chair of the
Global Alliance for Genomics and Health (GA4GH), and am delighted to accept. To give a little more background to the announcement going out today, and
to provide some answers to personal questions, I’ve written a bit of Q&A.
In this post I answer the three questions I am most
frequently asked about the GA4GH, namely: What on Earth is it? Why am I becoming
Chair? And how on earth do I find the time for these things?
What is the Global Alliance for Genomics and Health?
The GA4GH is producing solutions for sharing genomic and clinical data responsibly. Low-cost, high-throughput sequencing has changed – and is still changing – the way we understand living things, from the basic science of life to human disease. Healthcare is a big focal point for this change and, now that there is a critical mass of knowledge about the path from personal sequence to treatment decisions, is able to embrace routine sequencing of patient genomes and other molecular measurements.
But if we want a future in which all people can benefit from
this change, we need to solve a number of technical, structural, security and
ethical problems. The Global Alliance for Genomics and Health was set up to to
do just that.
At present, my overall impression of GA4GH is of a
professional orchestra warming up: intense, but disjointed, activity and
passion. The different sections are poised to work together, producing an
ecosystem of harmonised technical and ethical standards.
How we measure
Over the next decade, healthcare will begin to change the way it collects molecular measurements from patients. 'Genomics entering the clinic' means that it will soon become a matter of routine to gather DNA, RNA, protein and metabolite data from patients, along with traditional information. (Note: I like to use ‘Genomics’ in a broad sense, encompassing DNA, RNA, protein and metabolite measurement, partly because terms like ‘omics' and ‘multiomics’ are clumsy and don't translate well beyond the field).
Incorporating new measurements is not new to healthcare: for
example, blood biochemistry has been a mainstay in medical practice for over 50
years, and clinical genetics has been used to successfully diagnose millions of
people in recent decades. Oncologists routinely use the presence or absence of
specific genetic loci in certain tumours to guide treatment.
I think it is generally accepted that these more narrow, field-specific
measurements of genomics will change to become a more comprehensive, routine
collection of many molecular aspects at the same time, applicable to many areas
of healthcare.
Genomes, whole-blood transcriptomes, tumour RNA-seq and
large scale-metabolomics can all provide relevant information that is useful in
assessing individuals, and still more useful when analysed collectively.
A game-changing opportunity
This is all a bit hairy in terms of skills transfer and
capacity, but it’s much more exciting in terms of opportunity.
The consequence of this is that healthcare, a massive chunk
of the world economy (between 8% and 20% of GDP in developed-world economies) is
going to be conducting high-throughput molecular phenotyping on humans – a wonderful,outbred mammal.
From the perspective of research, which has traditionally
looked to other organisms to understand how they work before translating that
knowledge to humans, this is an amazing opportunity. Being able to use human
data directly – particularly by gathering the huge datasets generated in
routine healthcare – will be transformative for science.
The sheer ‘firepower’ of healthcare means humans will be the
most studied organism on the planet. No other animal will come close in terms
of scale, detail and longitudinal sampling. What an opportunity for research –
both basic and applied!
Turbulent waters
Repurposing healthcare data for research, at scale, will not
be smooth sailing. There are real cross currents around data, with different
levels of access and rules of engagement buffeting one another.
Fundamentally, much of molecular biology research data is
fully open, globally aggregated (e.g. ENA/GenBank, PDB, the Human Genome) or,
in the case of human research subjects, distributed in accordance with different
consents that patients have signed.
Healthcare data is completely different. There is a thicket
of national legislation, each rooted deeply in national law, language and
societal norms, and the primary remit of each system is to keep its citizens
healthy – not to create resources for research.
As generating molecular data becomes more a matter of routine,
the constraints for access will doubtless change, perhaps without reference to
research and its potential to create better long-term solutions.
Another interesting driver for change is patient engagement.
Increasingly, clinical research has become more of a two-way relationship, with
patients empowered to be owners of their personal measurement data, in addition
to being donors.
Even assuming that all goes well and access issues are
resolved, there is the matter of handling data on massive scales, and being
equipped to analyse it. Engineering around large-scale genomic data is no
trivial matter. One can’t simply slurp up spreadsheets or STATA frames of
genomes, transcriptomes and metabolomes – you need proper computational muscle.
There is also the opposite 'knowledge flow': for healthcare to
leverage genomics well, there are many practical problems for which research
holds the solutions. We need these solutions and skills to flow from basic
research into healthcare.
If we want a future in which we can all benefit from our
investment in studying humans on the molecular level, we need to solve these
problems.
The major challenges, in a nutshell
Technical problems
require solutions for working with data on different scales in sensible,
portable ways.
Structural problems
can be resolved when we agree on how to represent reference data. That includes,
for example, genomes and variants, but also the way we describe things. The
meta-data must be aligned to allow the transmission of key clinical data, and
to allow data sharing more broadly.
(The devil is in the detail here. Consider the many ways one
could represent ‘nested variation’ – a single nucleotide polymorphism on a
structural insertion of DNA in the context of an inversion – something we elide
over in both research and clinical practice.)
Ethical and
regulatory problems are perhaps the most discussed across the board, and we
must find a way for bona fide researchers
to access data within an appropriate framework, globally.
Security problems
require tight coordination. The GA4GH aims to establish a federation in which datasets
are appropriately accessible. That means we need access tools like APIs and
virtualisation schemes that can work smoothly, with predominantly secure
electronic methods, and absolute clarity and constant forward thinking about security.
But as with all complex issues, many of the challenges are
some kind of combination of problems, or hide in the spaces in between.
GA4GH: an ambitious endeavour
Resolving so many challenges in a relatively short time is
certainly ambitious, but it can be achieved. It isn’t easy technically or
socially, because it will only be effective if it is global. But we know from
experience that it isn’t impossible.
The extensive work done already shows that it is tractable: for example we already share (mainly by data transfer) large cohorts of patients for joint analysis delivering many new insights.
The extensive work done already shows that it is tractable: for example we already share (mainly by data transfer) large cohorts of patients for joint analysis delivering many new insights.
We have established appropriate ethical access to these
schemes. We have also demonstrated, in specific areas, that federation can work
(e.g. MatchMaker Exchange for rare disease patient discovery) and that virtualisation
is an effective approach (e.g. PanCancer Analysis).
Many academic and commercial groups in the GA4GH already provide practical solutions, but they are not as well coordinated as they should be.
Many academic and commercial groups in the GA4GH already provide practical solutions, but they are not as well coordinated as they should be.
The goal of the GA4GH is to enable a future in which
secondary use of healthcare-generated genomics data is routine and practical,
and we already have a strong start.
We need to make existing ad-hoc schemes better by coming
together more.
Why am I Chairing the Global Alliance?
GA4GH has been in operation for three years, led first by
David Altschuler (now at Vertex Pharmaceuticals), then by Tom Hudson (now at Abbvie).
David and Tom oversaw the establishment of GA4GH and grew it from 90 to 433
partner organisations. Under their leadership the GA4GH set up a series of
technical, meta-data, ethical, regulatory and security work streams, many of
which have been very successful, if isolated. There have also been a number of exploratory
projects set up, though many seem to be driven by curiosity and personal
interest.
My goal for the GA4GH over the next three years is to
rebalance delivery and structure, building on the partnership’s existing
strength of exploratory work. Many people in GA4GH, and some outside the
Alliance, are eager to see more alignment, and there is an incredible pool of talent
in engineering, genomics, clinical and ethics, all ready to come together
around this.
We may not be able to solve every challenge, as many of
these eventually merge with healthcare informatics generally. But I am
confident that we will make substantial progress and achieve a far better world
for both healthcare and research.
Where do I find time for these things?
(No, I do not have a Time-Turner.)
When people who know me heard that I took on another leadership role, they rolled their eyes and either berated me for not saying no, or simply asked how on Earth I will balance this with my other responsibilities.
I am stretched a bit thin, between my leadership roles at EMBL-EBI,
ELIXIR and Genomics England, my consultancy for Oxford Nanopore and GSK and my
advisory role for other organisations, and other professional responsibilities.
Importantly, I also have a life outside of science: I am a Dad with two
children and a wonderful wife.
How could I take on being Chair of the GA4GH, with
everything else going on? How could I … not?
I am an endlessly curious, optimistic person and love bringing people
together to make collaborations work, even if having such diverse commitments
requires time slicing, and results in my being distracted. In fact, for the past
three years I have been quite active in GA4GH, but at a very technical level. This role is more than just guiding one or two working groups.
Team work
Working in teams – tight or loose – and in close partnership
is my default strategy, in both work and family life. My wife and I are very
much equitable partners, with demanding careers and full-time jobs. We are both
responsible for making sure the logistics work (and that we have backup plans),
and for setting aside quality time with our children. That said, one of the
drawbacks of being spread thin is that sometimes I will be at home, but
completely distracted by work – something that drives the whole family a bit
nuts. I know I am not alone in struggling with this. Like many people I feel
that I short-change my family, even as they support me completely.
I could not function as Director of EMBL-EBI without Rolf
Apweiler as joint Director, and the high level of trust we share. Although we
are chalk and cheese (focused, organised German and messy, problem-orientated
Brit), our complementarity is a real strength. I also lead EMBL-EBI research in
partnership with Nick Goldman, and as a group leader I’ve partnered previously
with Ian Dunham and now with Tom Fitzgerald to lead my research projects. I see
my roles with Genomics England, Oxford Nanopore and GSK as providing help,
support and constructive criticism, but as a consultant my interactions are
limited.
Chairing the GA4GH will be a partnership role I share with
the Alliance’s strong Executive Director, Peter Goodhand of the Ontario Institute for Cancer Research, who keeps many of the
processes working smoothly. We both plan to recruit an active set of
Vice-Chairs who will provide a high level of strategic oversight.
I know there is enough talent in the GA4GH to deliver this.
I know there is enough talent in the GA4GH to deliver this.
Enabling talented people to deliver
High-level leadership is mainly about providing the right space
and conditions for knowledgeable, talented people to step up and deliver. Being
clear about the vision and direction is incredibly important, but setting out a
vision often isn’t the most challenging aspect. The hard thing is to identify
the people who have the right mindset and skills, and enable them to drive part
of the work all the way through to delivery.
I am speaking from experience when I say that this is true for
leadership generally, both in formal organisations like EMBL-EBI and more loosely
coupled organisations such as GA4GH. The problems we are grappling with cannot
be resolved single-handed; rather, we will be able to deliver practical solutions
by aligning individuals and groups, and ensuring they have the right balance of
skills, enthusiasm, resources and motivation.
No human is an island.
The adventure of understanding things is deeply exciting for
me, whether it’s a well-known problem or an unexplored area of science, so the
GA4GH is a project after my own heart. As with any ambitious endeavour, there
are bound to be arguments and hard decisions of all shapes and sizes in the
GA4GH. But the motivation of people to participate, the rewards of
collaboration and the potential benefits to society are great.
I am very lucky to be surrounded by supportive, excellent
colleagues on every level: the people who manage me, my peers around the world
and those I manage. I am also lucky to be working in science, which thrives on
collaboration, information exchange and support, and where just being
reciprocally nice is an excellent strategy.
Working together, we are going to make the next few years of
GA4GH amazing. I cannot wait.
I look forward to many great outputs under your leadership
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