Newborn screening started in the USA in 1963 with a blood test for phenylketonuria (PKU) developed by Microbiologist Robert Guthrie.

Australia began screening for PKU in 1964, and screening for congenital hypothyroidism followed in the early 1970s. The testing used dry blood spots on filter paper cards developed by Guthrie.

Cystic Fibrosis (CF) was added as a screening test in Australia in 1981. Data showed that by screening for CF, a child’s time in hospital could be reduced from 1 month per year to just 3 – 4 days.

Despite this proven benefit, CF screening has only been taken up by the rest of world in the last ten years. Previously doctors could only diagnose a child once symptoms developed.

In 1997 Australia was the first country to start large-scale screening with tandem mass-spectrometry. This technique meant pathology labs could test for up to 30 disorders on one sample.

The ability to screen for more disorders has obvious benefits, but Associate Professor Veronica Wiley says there is a need for caution when adding new tests.

 “It’s all about finding disorders that can be treated. We have to ask the questions: do we want to know at birth? Sometimes a disorder won’t develop symptoms until adulthood so is there a benefit to knowing so early? And does screening improve the child’s life?”

The development of next generation sequencing has enhanced the ethical concerns around screening. We have more information than ever available to us but we must be careful in deciding what we do with it.

The development of new drugs to treat specific forms of genetic disorders such as CF or muscular dystrophy, alongside a new capability to screen for the gene mutations that cause the disorders, means more screening and effective, earlier treatment paths.

A/Prof Wiley hopes one day every baby, wherever they are born, will be given the healthiest start to life possible;

“We’re at the feel good end of the genetics market – children are performing better and we’re saving lives.”

The post “Kids are doing better and we’re saving lives”: how Australia has led the world in newborn screening first appeared on Know Pathology Know Healthcare.

“Last year I started to feel really tired and run down – and I’d been putting on some weight around my face. Initially I just put it down to getting older.

But it went on for months and eventually I knew I had to see a doctor. I’d get home from work and be passed out on the couch within fifteen minutes.”

Jason was sent for blood tests. He was nervous and immediately prepared himself for the worst.

His doctor’s diagnosis of Hypothyroidism was the last thing he expected; “I thought it was something only women suffered from.”

The thyroid gland secretes hormones to regulate your metabolism. Hypothyroidism means the thyroid gland is underactive and fails to secrete enough hormones into the bloodstream. This causes a person’s metabolism to slow down – hence Jason’s lack of energy and weight gain.

And although the condition is more prevalent amongst women – it is estimated to affect up to 10% of Australian women – it still affects men too. Jason points out, some men’s reluctance to visit the doctor can put them at higher risk of leaving the condition undiagnosed, and therefore untreated, for longer. “I think they think it’s not ‘macho’ to go to a doctor” he says.

Jason was prescribed medication and was instructed to have regular blood tests to monitor his thyroid function. Unfortunately this was just the beginning.

Jason had been diagnosed with Irritable Bowel Syndrome years earlier. His doctors now believe that this may have been the root cause of a diverticular upset that would put Jason in hospital just months after his hypothyroidism diagnosis.

“I thought I was coming down with the flu. It came on suddenly one night – I was shivering and had convulsions. I felt really cold so took a hot shower and went to bed. The next morning though I felt awful. I went back to the doctor, who assessed my symptoms and sent me for some urgent blood tests. The tests confirmed I’d developed sepsis from an infection and I was sent straight to hospital for treatment.”

Jason underwent numerous blood tests in hospital in order to find the correct antibiotics and monitor his health – as well as to diagnose and treat VRE (Vancomycin-Resistant Enterococci) – a superbug that he caught as an inpatient.

2016 has been a healthier year for Jason but he’ll always be grateful for pathology services;

“A blood test saved my life on more than one occasion last year. We take it for granted that there are these people devoting their lives to treating us in pathology labs, but they don’t get enough credit. They’re really the unsung heroes of the healthcare system.”

The post “They’re the unsung heroes of healthcare” – how pathology saved Jason’s life (3 times) first appeared on Know Pathology Know Healthcare.

“Last year, on the 16th May, I had a seizure at work. I’d had a terrible headache that morning so I left the office to visit my granddaughter and get some fresh air. When I returned to work I was feeling much better. But the next thing I remember is waking up two days later in hospital.”

Diane was found unconscious in a conference room by two colleagues. She was rushed to hospital and put into an induced coma for two days before being diagnosed with bacterial meningitis.

Diane was already familiar with the world of pathology. She had been diagnosed with an underactive thyroid two years prior to her meningitis diagnosis so she was used to going for regular tests to monitor her medication and hormone levels.

It was Diane’s sudden, life-threatening infection that really showed just how important pathology was to her well-being.

In the months prior to her seizure, Diane visited her GP three times with severe ear ache. He could see nothing wrong at the time but ultimately pathology saw what Diane’s GP alone, could not. Once in hospital a lumbar puncture (also known as a spinal tap) confirmed that Diane had contracted bacterial meningitis and this allowed her to receive the life-saving treatment she needed. Since then blood tests have monitored her anti-seizure medication and kept her well.

Unfortunately, that first hospital trip would not be Diane’s last. Just three days after returning to work, she was hit by a second seizure. Luckily her daughter came to find Diane and took her to the local hospital immediately. Diane was transferred by helicopter to Newcastle Hospital where she underwent surgery to fix three holes that were leaking fluid from her brain. Six months on and Diane is back at work and looking forward to a healthier future.

“When I look back I think the scariest part of the whole thing is that there were so many warning signs. I’d been unusually tired, had suffered a string of coughs and colds that I couldn’t shake, and friends had mentioned I didn’t seem myself. Without pathology there would have been no answers to what was wrong with me.

Now I keep a diary to keep track of how I’m feeling and if I’m concerned that something is wrong I don’t hesitate in visiting my doctor. I’ve learned the hard way that even if something seems like a minor problem, it could be a sign of something much more serious. I’d rather have a test for peace of mind than leave it up to fate.”

The post Pathology gave Diane answers when no one else could first appeared on Know Pathology Know Healthcare.