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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 .

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.

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.