Take 10 with... Jodi Van Dyk

1.  Describe your research topic to us in 10 words or less.

Whole genome sequencing of newborns in the acute care setting.

2.  Now describe it in everyday terms!

Every day across Aotearoa New Zealand, there are 200 children being cared for in neonatal intensive care units. Aotearoa New Zealand reports approximately 5 deaths for every 1000 live births and at least one of these is due to an undiagnosed genetic disorder within a neonatal intensive care unit. The Newborn Genomics Programme aims to provide rapid DNA sequencing for babies with a suspected genetic disorder who are being cared for in neonatal or paediatric intensive care units. Sequencing allows us to compare the DNA code of the child to their parents to spot any differences in the DNA and return any clinically actionable finding to clinicians within 5 working days. Early diagnosis of these differences can assist in providing timely access to treatments for and can have a huge impact for the whānau. Research has shown that rapid whole genome sequencing can decrease infant morbidity and the cost of hospitalisation. Currently, there is no rapid whole genome sequencing platform based in Aotearoa, New Zealand. The Newborn Genomics Programme aims to fill this gap.

3.  What are some of the day-to-day research activities you carry out?

As the Newborn Genomics Programme project manager, I deal with all aspects of the project including day to day oversight, stakeholder management and strategic planning. I act as a conduit between Te Toka Tumai | Auckland City Hospital, where our clinicians interact with our patients, and the laboratory, sequencing and research side back at the Liggins. I am responsible for drafting and maintaining all processes and documents for the project and ensuring we are fulfilling our obligations under good clinical practice guidelines. One day, I might be coordinating sample sequencing and follow up meetings with the clinicians. Another I may be working on ethics, budgets, donor reports and staff output. No two days are the same!

4.  What do you enjoy most about your research?

Being able to provide a local whole genome sequencing platform is a highlight of my role with the programme. I enjoy working with our very talented team of researchers and clinical staff to deliver this service. Having this technology and services in Aotearoa New Zealand enables the project to help more sick babies than we otherwise could do.

Similarly, the technology we are using has many more applications for the future and I enjoy exploring ways in which we may be able to make a difference in other areas of health such as rare diseases.

5.  Tell us something that has surprised or amused you in the course of your research.

Research is like no other job or industry in that nothing is a given, things can and will change, grow or evolve into something different. When I first started in clinical trials over 10 years ago, I found that to be quite unique. Now I understand research does not flourish without researchers and support staff thinking outside the box, being adaptable and pursuing new ideas on a regular basis.

6.  How have you approached any challenges you’ve faced in your research?

From a project management point of view, I approach challenges with pragmatism. I gather all the facts and analyse them until I can see a way forward. Most of the time a challenge presents an opportunity to learn more about the area you are working in and to perhaps consider things you had not before. Research is often about seeing things from a different angle. The great thing about research is that we can often forge unique ways forward if a challenge is presented. It’s important to approach challenges as an opportunity.

7.  What questions have emerged as a result?

After successfully collaborating with Te Toka Tumai | Auckland City Hospital to provide a rapid sequencing platform we are now considering how we can provide this service on a national level. Increasing a project to a national level itself poses more questions. How can we improve our processes to service multiple areas, how can we engage with other stakeholders, what changes do we need to make to offer this service at more places across Aotearoa New Zealand.

Additionally, the sequencing technology we are using has numerous applications. As a project we are often asking ourselves what other applications this platform can be applied to. Can we use this technology for other important health concerns in Aotearoa New Zealand such as rare disorders.

8.  What impact is your research having or what impact do you hope it will have?

By enabling whānau access to local rapid whole genome sequencing, we are providing access to a potential genetic diagnosis that may help to positively change the health journey of the child and their whānau. I hope that this project and subsequently the service will eventually be made national and continue to help whānau with sick children with genetic disorders.

9.  If you collaborate across the University, or outside the University, who do you work with and how does it benefit your research?

I work closely with clinicians and genetic counsellors and the genetic health service at Te Toka Tumai | Auckland City Hospital. Collaboration with these teams enables our research to help those that will benefit most from genetic sequencing. The team at the genetic health service are invaluable as the link between clinicians who refer patients to the service and our research team. Importantly the genetic health service provides wraparound care for participants and their whānau. Our project benefits immensely from their support and we would not be able to identify potentially eligible patients nor provide comprehensive care without them.

10.  What one piece of advice would you give your younger, less experienced research self?

The research journey can seem long and arduous, with clinical trials often taking many years to produce results or change. It’s important to focus on the bigger picture and remember what the research project is trying to achieve. Try not to get too bogged down in the day-to-day minutiae!