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.

Photograph 51 relates Franklin’s contribution to the discovery of the double helix structure of DNA in the 1950s. The play depicts the sometimes confrontational working relationship between the talented Franklin and her laboratory partner, Maurice Wilkins.

The play’s name comes from the X-ray image of DNA that Franklin created. It was this image that led scientists James Watson and Francis Crick to determine the chemical structure of DNA, ushering in the age of modern genetics.

In 1962, the Nobel Prize in Physiology or Medicine was awarded to Watson, Crick and Wilkins, with Franklin notably overlooked. In 1958, Franklin died of cancer, never having been recognised for her work. Photograph 51 attempts to bring Franklin’s role to light.

Dr Melody Caramins is a genetic pathologist working in Sydney. She says modern medicine would look very different without the discovery.

“Genetic testing is widely used, particularly for screening; for example prenatal testing for Down Syndrome and newborn bloodspot testing for life-threatening conditions like Cystic Fibrosis.

Genetic testing can also suggest if a particular cancer drug is likely to be effective for an individual patient. Testing can also indicate an elevated risk of developing a hereditary cancer.”

Dr Caramins says that genetics is an exciting and rapidly developing area to work in as there are so many questions to be answered.

“I encourage anyone willing to work hard to consider pathology and genetics in particular. There is great variety in the work on offer, including lab work and consulting directly with patients.”

This burgeoning profession owes much to genetic pioneers like Rosalind Franklin.

The post Nicole Kidman’s new role shines a light on genetics first appeared on Know Pathology Know Healthcare.

Babies born in Australia are tested using a ‘heel prick’ test or bloodspot test; a small amount of blood is drawn from the baby’s heel and tested for 25 different health conditions, usually within 48 hours of birth.

The test is also known as the ‘Guthrie’ test after Robert Guthrie who invented a bloodspot test for phenylketonuria (PKU) and went on to create further tests for inborn errors of metabolism.

Guthrie brought his PKU test to Australia and New Zealand in 1965 and it was quickly adopted.

The reason for testing babies so early is that some of the conditions being tested for can have serious consequences if left untreated, so it is essential that doctors know as soon as possible if a baby is in need of extra care.

The most common conditions tested for are:

• congenital hypothyroidism – possible consequences include growth failure, intellectual impairment
• cystic fibrosis – can cause impaired digestive and respiratory function, infections and decreased life span
• amino acid disorders such as phenylketonuria – may cause developmental delay, intellectual impairment, seizures
• fatty acid oxidation disorders – can lead to muscle problems, poor feeding, vomiting, seizures, sudden death

Fortunately, conditions like those above can be successfully treated, for example, hormone supplements can be given to children with congenital hypothyroidism to prevent severe complications and allow them to live a relatively normal life.

The newborn bloodspot screening program is currently under review by a working group of health officials. The review will look at advances in technology to ensure that the program is keeping pace with the latest testing techniques and may also consider adding other conditions to the list of those currently tested for.

There are recommendations from the Human Genetics Society of Australasia and the Royal College of Pathologists of Australasia that other conditions be added to the program, such as Congenital Adrenal Hyperplasia (CAH), another rare genetic disorder that can have severe consequences in some cases.

The benefit to children and families is clear here and is a shining example of how pathology is integral to patient care, empowering doctors to help prevent disability and giving patients the chance to lead a healthy life.

^{Image credit: Alamy via The Guardian http://www.theguardian.com/society/2012/apr/10/society-daily-nhs-failings-newborn-babies}

The post The 50 year old blood test still saving lives first appeared on Know Pathology Know Healthcare.