These two brothers are living healthier lives, thanks to genetic testing – ABC News (Australian Broadcasting Corporation)

These two brothers are living healthier lives, thanks to genetic testing

Updated July 05, 2019 16:10:34

It has taken decades of work and billions of dollars, but Australia is now entering an exciting phase of personalised medicine, leading to results which once seemed impossible.

Key points:

  • Brothers Hayden and Tyler Smith were in and out of hospital with a mysterious condition until genetic testing revealed what was wrong
  • Robotics experts are creating a tool that can go around corners during keyhole surgery
  • 3D skin printing with bio ink is coming in the future, burns specialist Professor Fiona Wood says

Better treatments or even cures are already happening or are just around the corner, thanks to complex genomic testing and gene therapy.

Genomics has changed the lives of Hayden Smith, 16, and his brother Tyler, 12, from Melbourne.

Both boys developed a mysterious condition which meant they spent a lot of time in hospital being treated for a range of conditions including asthma, allergies and serious bowel problems.

“We went to numerous specialists … it was just always treating the symptoms and not knowing what was underlying,” their mother Belinda McTaggart said.

“I was just so worried about them all the time.”

Doctors suspected the condition was genetic but only recently developed the complex testing to investigate further.

“We went on a fishing expedition and that testing came up with the answer,” said Dr Joanne Smart, from the Melbourne Genomics Health Alliance.

“What we’ve been able to do is tailor their treatment according to what we’ve been able to find from the evaluation of their genomic material.”

After testing thousands of genes it was revealed the brothers have a rare genetic condition called IPEX syndrome, in which the immune system attacks the body’s own tissues and organs.

Once doctors knew what they were dealing with, they could treat it.

Both boys had bone marrow transplants.

“It’s early days, but at this stage the boys are cured,” Dr Smart said.

Their mother said they are now like different children — full of energy.

“It was such a relief. Now their future looks so bright and they can hopefully just live normal lives,” Ms McTaggart said.

Reprogramming patients’ cells

At his laboratory at Sydney’s Royal Prince Alfred Hospital, haematologist Professor John Rasko could barely contain his excitement.

“I’ve been working in the field of cell and gene therapy for almost three decades and this is the most thrilling period of my entire career,” he said.

He said gene therapy added a new dimension to the toolkit for treating cancer.

“For the first time in the history of cancer medicine we’ve been able to re-program patients’ own cells so that they target their own body’s cancer,” he said.

“Australia has now approved cell and gene therapy for patients with cancer, leukemia and in particular, lymphoma.

“In the past we used cannonball technology like chemotherapy, which blasts the whole body … or radiotherapy. All different new biologicals are increasingly targeted and precise.”

Surgical tools custom-made for your body

Robots are also set to play a part in personalised medicine. At the Australian Centre for Robotic Vision in Brisbane, the team is working on a tiny robot which could make all kinds of surgery simpler and less invasive.

They are starting with the knee, creating a personalised snake robot to help perform arthroscopies, also known as keyhole surgery.

“We’re not aware of anyone using robots to do minimally invasive surgery inside joints,” said Professor Jonathon Roberts, chief investigator at the centre.

“We’re designing robot systems that can go around corners because currently surgeons use straight tools and straight camera systems.”

After scanning the patient’s knee, a computer generates the ideal tool to match that knee. A 3D printer then creates a microscopic tool.

“We’re using knee surgery but we expect we will be able to put this into a shoulder, into a hip, into the abdomen,” orthopaedic surgeon Dr Ross Crawford said.

“We could get deep inside the brain quite safely without having to do big exposure.”

3D skin printing on the way, says burns specialist

Perth-based burns specialist and 2005 Australian of the Year, Professor Fiona Wood, said she could see a day when personalised medicine would transform complex burns surgery.

“We can use an intelligent knife, an iKnife, which analyses real-time chemistry in the gas that is coming off the laser as you are cutting through the tissue to tell you whether the tissue is dead or alive, and whether it is bacterially contaminated,” Professor Wood said.

“That is so exciting.”

But there is more.

“What about printing skin? Three-dimensional printing skin with bio ink, cells and the delivery point of care, in an acute setting that is appropriate for that body site?” she said.

“It may not happen in my surgical life, but it will happen.”

Professor Wood stressed that Australia must remain a key player in innovation.

“Unless we actually step up and challenge the paradigm and drive forward with novel solutions, we will be passive recipients of technologies from the rest of the world and therefore vulnerable,” she said.

“We can’t solve every problem absolutely, but we have to contribute some solutions. We have to be players in the game.”

Watch part four of 7.30’s health special tonight.

Topics: medical-procedures, health, doctors-and-medical-professionals, medical-research, genetics, diseases-and-disorders, australia, melbourne-3000, brisbane-4000, sydney-2000

First posted July 04, 2019 06:11:52

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