Rare diseases: innovation, collaboration, and genomics

Rare diseases: innovation, collaboration, and genomics

Professor Hackett discusses public-private collaboration, secure data sharing, and the potential of genomic sequencing for the treatment of rare diseases.

Professor Joanne Hackett, General Partner, Healthcare at early stage venture and growth stage advisory firm Izy Capital, joined the company from Genomics England, where she oversaw industry engagement and commercial collaboration. She tells HEQ about innovation in healthcare and the future of genomics in the treatment of rare diseases.

Could collaborative efforts between industry and national healthcare systems accelerate innovation?

Yes, and I think that has been one of the things which has historically held back healthcare from progressing globally: many of the great things that happen in different countries would be stronger if those countries worked together. It doesn’t have to be the large corporates that catalyse this, but they are the ones that could lead by example due to their global reach and large budgets. The more industry and the healthcare system rely on each other, the faster healthcare advances will actually happen. Why are we administering drugs to individuals who will never respond to that treatment? Why are we not working with industry to help find the individuals who will respond on a genomic level, and then put them on the drug, and then reimburse accordingly, based on outcomes? There would have to be a slightly more open conversation before the drug was actually approved and rolled out; and this would be something that would have to be in partnership. Who would be responsible for the stratification of the patients, and then how does the healthcare system reimburse? Adverse drug reactions often occur because individuals are on the wrong drugs; this is an unnecessary expense to the healthcare system, but also extremely costly to the individual whose outcome is compromised – potentially fatally.

This can include the implementation of electronic medical records and the sharing and reuse of data, potentially across a whole country or across several countries. This is where the whole concept of data-driven healthcare comes from: you make a better decision if there is enough data to provide insights. Healthcare systems are not built to innovate; healthcare systems exist to treat sick people. They need to work in partnership to have the greatest latest ideas and to be able to embed and implement new technology.

There are limits to what a healthcare system can deliver – but many think it has to do everything. It can’t – and it shouldn’t. When I go to see a doctor, I want them to treat me because they are trained medical professionals. We have to start recognising these individuals for the intelligence and the credentials that they have. It is far too easy to criticize the inability to link medical records and make that a representation of the knowledge base of the medical professional – that’s crazy, it is not their job. Rather than putting all the onus on healthcare systems, we need to start thinking about collaboration more broadly.

How could patient data be better aggregated and analysed to inform medical decisions?

Unfortunately, there have been examples of bad practice; which is why people get a little bit worried about sharing data – and the word ‘share’ implies a kind of free-for-all, which is not necessarily the case. You don’t need to know a patient’s height or weight to make certain decisions; however, if you want to know how quickly they will metabolise medication which is based on weight and height, those parameters must be collected. There has to be a certain amount of information which is available on a need-to-know basis.

One of the most secure ways of being able to access and share data is through trusted research environments, which have an element of protection embedded by design. Data is stored in a virtual environment and access to data is administered based on your profile. Academics, clinicians, patients and industry all have different permissions.

What role does the study of genomics play in futureproofing the healthcare sector?

Genomics is a component of the personalised healthcare collaborative as it helps make better decisions. It’s definitely a step in the right direction. It is important to make people more aware of the possibilities offered by genomics in medicine, but also its limitations. There are many things that can inform a much more holistic view of the individual, but if we were to strip it back to first principles, a more personalised approach to healthcare genomics is definitely a good place to start.

How do you see the UK’s genomics industry developing in the future?

I personally think that the UK is a world leader in genomics, based on the fact that it is the only country in the world that has completed a large whole genome sequencing project and has started to embed that into routine clinical care. I think we’ll start to see more demand from patients: that they’ll want to understand whether or not they should be taking particular medications and if particular tests are needed. The cost of sequencing is going down dramatically, so that’s helping to be able to push this forward; and industry is very keen. They want to produce treatments that are much more tailored and select the right individuals for trials.

I think we’re going to see much more stratification for clinical trials on a genomic level, not just in the UK but in other parts of the world. To maximise the outcomes, this needs to be done in collaboration with the large contract research organisations that run trials globally. We are probably going to move to an outcome-based reimbursement model when it comes to medication being administered, because for far too long we have tried the one-size-fits-all approach; and the cost of us having to go back and either re-treat individuals or try to mitigate the damage which has been done to individuals who have been put on the wrong medication is simply far too high.

We have a responsibility as patients and as citizens to invest in our personal health outcomes. The more information that we as citizens are willing to share, the sooner and the earlier in our trajectory of life we can get treated. I would love to see genomic sequencing available very early in life, potentially as an enhanced neonatal screening program, because many metabolic disorders aren’t identified until children are four or five years old. Why do we wait until they’re four or five years old and potentially deaf or blind or have severe neurological disorders, when we could identify at birth that these children had a metabolic disorder which could be alleviated with a ketogenic diet, for example? There are a lot of very devastating issues which could be mitigated very early on in life.

I think that we’ll be able to find the comfort zone between trading information and getting personalised treatment. I don’t want standard of care. I want Joanne’s standard of care.

People think that genomics can solve a lot of problems and it’s the secret to everything: it’s not, but it’s certainly a component that will allow us to be better informed and take more responsibility for our health. Genomics starts to allow a focus on prevention and a shift from treating sickness. Let’s create a well population first and foremost.

Joanne Hackett
General Partner, Healthcare
Izy Capital

This article is from issue 14 of Health Europa. Click here to get your free subscription today.

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