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Peter Collins

Peter Collins

When Peter isn’t fighting for responsible genomics, he is bringing the BIO·FICTION Festival – the only synthetic biology festival – on tour to Melbourne, whilst advising the University of Melbourne’s International Genetically Engineered Machine (iGEM) team as an iGEM alumna. He is currently researching ‘What makes an effective science film festival?’ in preparation for the development of an international genomics festival through the Human Variome Project, which will open up genomics to the public in an art/science fusion.

Prior to responsible genomics and synthetic biology, Peter shortlisted for a prize during the Emerging Writers’ Festival and subsequently had his work published by Penguin. Peter also holds a provisional patent entitled “Protection system for a vending machine, vending system, control system and method.” (don’t ask – non-disclosure). This year Peter was the Australian representative at the 2nd ‘APEC Young Scientist Workshop on Effective Science Communication in the 21st Century’, where he was invited as a speaker and contributed his project on “Genomics on Twitter” using digital methods.
A Recap of the Open Knowledge Human Genomics Meetup

Last week The Human Variome Project and the Open Knowledge Foundation, hosted a meetup at ThoughtWorks on Collins St in Melbourne. Professor Dr. Johan den Dunnen shook things up with his idea for a ‘DNA-bank’ - a place where account holders have full discretion over access to their genetic sequence for research or medical purposes.

Johan made an unfamiliar topic easily relatable with his presentation featuring both comedic and personal details – we even got to see Johan’s own genome! Visualised into a starfield type array of variants, each with different colours like Christmas baubles. Red signalled a variant that caused a protein to stop working – Johan had a few reds – which made us all think we have reds too, but few of us would know if we did – as at this stage, knowing your own genome is limited to only a few social circles like medical genomicists, early adopters in the direct-to-consumer market and the few people who’ve had genetic tests through primary healthcare.

There’s another joint meetup coming up on at 6pm on March 9th at ThoughtWorks featuring Professor Ingrid Winship. We are really lucky to have Professor Winship speaking – as the Chair of Adult Clinical Genetics at the University of Melbourne and the Executive Director of Research for Melbourne Health (among other important positions), Professor Winship is a very knowledgeable (and busy!) leader in Australia’s healthcare scene.

Visit http://www.meetup.com/Open-Knowledge-Melbourne/events/228798812/ for more information and to register for the free event.

Hope to see you there!

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Sir John Burn, Alison and when to order a genetic test.

Recently I watched Sir John Burn’s interview with Alison – a very polite and lovely science teacher from the UK who unfortunately passed away one year after the interview was recorded.

From the interview, I learnt that Alison had been aware ever since she was a child that several women in her family had died in their thirties or forties from cancer.

Sadly, the medical profession (at the time) considered these cancers to be caused by environmental factors, not an underlying genetic cause.

So when Alison herself fell seriously ill and sought treatment, she asked for genetic tests, but was told that her recollections of cancer in her family were irrelevant to her condition and amounted to hearsay.

After Alison’s death, Sir John Burn wrote an editorial urging the medical community to reconsider at what point in diagnosis genetic tests should be ordered for patients. I wonder what impact Sir John Burn’s cautionary tale of Alison’s diagnosis and treatment has had, and reading through it recently, I’m reminded of the Australian Government’s announcements to reduce funding for pathology and other diagnostic services in 2016 .

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Grey genomics w/ VCGS Senior Scientist Belinda Chong

The grassy parkland replete with big hill to roll down offered a nostalgic mirage on my way next door to the Royal Childrens Hospital (RCH) on Flemington Road, Melbourne. Running on fumes, I wandered inside - that colossal, veritable wonderland, where for a moment I was 3 feet tall, trying to see what I'd once have seen stumbling into this spaceship with worried parents on route to the doctors. First, leaves and butterflies floating on wire from lofty ceilings, an oceany aquarium of shiny fish, a rainbow coloured lolly shop and deeper still in this labyrinth of childhood delights, the golden arches reared its head. It all roused good feelings, and despite me momentarily struggling with the idea of fast food in a hospital, I felt for the sick kids wanting a happy meal before visiting meerkats - which I decided to save for my next visit. After a brief bite to eat, coffee and some more caffeine, I went next door to the Murdoch Childrens Research Institute, where Belinda Chong - Senior Scientist - met with me for an interview on the Victorian Clinical Genetics Services (VCGS).

So Belinda, how'd you get into genomics?

I think it was more by accident, I was at the right place at the right time kind of thing... While I was at uni, I had no clue what I wanted to do, but I had a huge range of subjects, I knew I was interested in science: chemistry, biochemistry, I had zoology, I had a whole range of different psychology... But the whole genomics thing didn't happen until I was doing my PhD or even post-doc.

Had any other profession caught your eye?

When I was doing my bachelors, and going into masters, I did think about doing nursing, yeah that's completely different again, looking at patients and patient care, but by the time I'd really thought about it I had already started my masters and was nearly completing it.

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Birds, buckets & beaches: An analogy about genomics

Imagine you need to catalogue all the grains of sand on a beach, but to do this you must use special tweezers to pick up each grain, be trained to identify the grain, then place it in the correct grain bucket. Imagine armed with this correctly catalogued beach worth of sand and buckets, you could diagnose genetic diseases and design therapies with an ease unparalleled in today's scientific world. Further imagine that through some fluke of evolution, a highly intelligent species of bird with eyes and beaks suited to picking up and classifying individual grains of sand inhabit the island on which you wish to sort your sand. Now all you have to do is train the birds to pick up the sand and deposit it into the correct bucket according to your bucket classification system – but why would a bird do this? Food. Why would a researcher do this? Publications.

To pull down the analogous curtain, grains are genetic variants, birds are researchers, food is scientific recognition and buckets are genetic databases – but the problem is really a problem. We need to catalogue all the genetic variants in the world because it is this data that will enable us to get a handle on genetic disease – diseases like sickle cell anemia, cystic fibrosis, polycystic kidney disease, Tay-Sachs and many others.

Whilst the birds’ favourite food continues to be publications, publications don’t get the sand sorted into buckets fast enough. There is a faster approach, it just requires a different sort of food: MA or microattribution. Microattribution opens up the discovery of scientific knowledge to the crowd and is part of a much larger effort on behalf of the Human Variome Project to encourage the collection and sharing of genetic data on a global scale. But there are many beaches around the world and connecting this data is a challenge in itself requiring governments, universities, companies, health providers, researchers and citizens to all work together to put forward the data they've collected into a network from which everyone can learn from.

To learn more about the Human Variome Project and its role as a partner NGO of UNESCO, check out this editorial in Nature Genetics.

Image sourced under Creative Commons via Flickr from jdrephotography.

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

When should families put off genetic testing for their children? Are direct-to-consumer tests safe for children?

Thinking about questions like these?

Read up on what the American Society of Human Genetics (ASHG) and American College of Medical Genetics and Genomics (ACMG) recommend: Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

Image titled "A Climb-on DNA Model" sourced under Creative Commons via Flickr from James Gentry.