In a study involving 12,000 women, one in twenty people tested were found to be carriers of one of the three above mentioned conditions. But if you think that family history is an indicator, you’d be wrong: 88 per cent of carriers had no family history of the condition.

The government announced this year it would fund Mackenzie’s Mission with a view to making genetic carrier screening accessible to all prospective parents. Still many people don’t know that carrier screening is already available. To a large degree the low level of awareness is due to the fact that, until recently, doctors restricted these discussions to families where there was a family history of the condition.

New practice guidelines from the Royal Australian and New Zealand College of Obstetrics and Gynaecology (RANZCOG) released this year (2018) now recommend discussing the availability of genetic screening with all prospective parents.

While testing for conditions like Down syndrome and the more common inherited disorders such as SMA, Fragile X and Cystic Fibrosis are well established, the advances in genetic technology mean that it’s now easier to test for hundreds of less prevalent disorders, potentially creating a slippery slope where it’s difficult to draw the line on what constitutes a serious enough condition for investigation or intervention.

And with more screening comes the potential for greater economic and human resource costs to the health system.

Dr Melody Caramins, Chair of the Royal College of Pathologists of Australasia’s (RCPA) Genetics Advisory Committee, states it’s an issue that needs addressing as new genetic technology comes onboard:

“It’s an important question, which is why the RCPA is currently preparing an application for funding of basic carrier screening to be considered for inclusion on the Medicare Benefits Schedule.

“Obviously, the more information that can be provided to a parent about the risks of conditions developing, the more power they have to make decisions,” says Dr Caramins.

“Couples where both parents are carriers of cystic fibrosis or spinal muscular atrophy have a one in four chance of passing that condition onto a child.”

For those interested in being tested, the carrier screening test for cystic fibrosis, Fragile X syndrome and SMA is not covered by Medicare. It’s available through a number of pathology and testing providers and costs $345-400. In Australia, it is widely available in all states and territories.

Expanded preconception (or pre-pregnancy) screening sifts through a person’s genes to evaluate their carrier status for hundreds of conditions, by looking at DNA mutations and recessive genes, and is available through a number of Australian providers and can be valuable.

For example, the recessive brain condition, Tay-Sachs disease, was prevalent amongst Ashkenazi Jews but after screening was introduced in the 1970s, incidence of the condition dropped by 90%. In Mediterranean countries thalassaemia has been greatly reduced by pre-pregnancy screening.

But while screening can help identify risks, that doesn’t mean a baby will definitely manifest the condition. It should also be noted that some conditions can develop in the womb.

“It’s a lot of information to absorb and to consider,” says Dr Caramins “Patients thinking about availing themselves of the service are recommended to have genetic counselling.”

The post Navigating pregnancy and genetic tests first appeared on Know Pathology Know Healthcare.

Those were the words from Paediatric neurologist Dr Michelle Farrar last month in response to the announcement from Health Minister Greg Hunt that the government would be investing tens of millions of dollars into improving access to pre-natal genetic testing for prospective parents.

It is the single largest investment of the Medical Research Future Fund and has been dubbed “Mackenzie’s Mission” after Mackenzie Casella, who sadly past away last year, aged 7 months, due to spinal muscular atrophy (SMA).

Mackenzie’s parents, Rachael and Jonny, have been working tirelessly since the tragic death of their daughter to raise awareness for the genetic condition and to lobby for increased testing so that other parents don’t have to go through the same pain. They joined Minister Hunt for the announcement at the start of March. Jonny said;

“It means everything to us. We’ve been lobbying so hard for months to try and make a change in this country, and for Mackenzie’s life to be acknowledged in this way, I can’t even express how much it means.”

SMA is a rare, genetic condition whereby a loss of motor neurons causes muscle to waste away. This usually starts in the limbs but eventually the muscle loss affects the person’s ability to swallow or breathe. If both parents carry the SMA genetic mutation, there is a one in four chance that their child will develop the disorder.

The parents explained they had never heard of SMA before their daughter was diagnosed at ten weeks old. They certainly were not aware that there was a blood test available that would have told them they are both carriers of the SMA gene before Rachael became pregnant.

Currently expectant parents can pay $385 for a blood test to find out if they are carriers for SMA, cystic fibrosis and Fragile X syndrome. Approximately 1 in 20 Australians carry at least one of the gene mutations.

But the cost could be a barrier for some people and there is poor awareness that the test is an option, even amongst doctors. As well as going towards subsidizing the test for any prospective parents that wish to have it, the investment will also be used to increase awareness amongst the general population and healthcare professionals around genetic screening.

Rachael and Jonny hope that this will one day mean pre-pregnancy screening is routine for anyone in Australia wishing to have a child.

Further down the line funding will also go towards increasing testing for those going through IVF. Fertilized eggs can be tested for genetic markers before implantation, which as the Minister put it “is a far less traumatic process than discovering in utero.”

Finally, some of the money will be invested into research and improving access to treatment for those with existing genetic conditions.

Dr Melody Caramins, a Sydney based genetic pathologist welcomed the announcement from the Health Minister;

“Not everyone will want the test but it’s important that we arm expectant parents or those planning a pregnancy with the necessary information to make that decision. If people are not aware that a test exists, or if it is not easily accessible, we are wasting this incredibly valuable technology.”

The post Mackenzie’s Mission: improving access to genetic screening for prospective parents first appeared on Know Pathology Know Healthcare.

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.

When Karyn gave birth to Ashlee,  she conducted pathology testing for her baby and discovered Ashlee had Cystic Fibrosis where testing has played a pivotal role in Ashlee’s healthcare ever since.

Karyn is now able to view the world of pathology from the other side too. Since taking up an admin job at a pathology provider she sees every day how pathology helps thousands of other families just like her own.

“I can’t remember a time in Ashlee’s life when she wasn’t undergoing regular pathology tests to monitor her condition. She was diagnosed at five weeks old. It took six long weeks in hospital and three operations until we were finally able to take our beautiful daughter home.

Over the years we learned about the condition and how best to manage it. But then when Ashlee was 21 she underwent a double lung transplant. Less than a year later we were back in the hospital for a second transplant after the new lungs had started failing.

The operations were done in Melbourne which meant that on top of the indescribable fear of watching our daughter go through such a huge procedure we had the added stress (not to mention financial burden) of having to relocate to Melbourne for four months each time.”

Eight years on and Karyn is still relying on pathology to monitor her daughter’s health. Ashlee is now 30 and requires monthly tests to monitor the potential side effects of the medication she has to take to avoid her body rejecting the lungs and to monitor her Cystic Fibrosis.

“Without pathology my daughter would not be alive. Instead she has grown into an amazing and inspirational young woman. Although she still has her ups and downs we’re not taking anything for granted.”

Dr Melody Caramins is a pathologist specialising in genetics;

“Cystic Fibrosis is the most common genetically acquired, chronic condition in Australia. Although there is currently no cure, life-expectancy and life quality for people with Cystic Fibrosis have both increased significantly in the past twenty years.

From the heel prick test that diagnoses the condition just minutes after a baby is born, to the regular testing to monitor a person’s condition, pathology tests are invaluable in caring for people with Cystic Fibrosis.”

If you have a story of how pathology has helped you or someone you love we want to hear from you, email info@knowpathology.com.au

The post “Thanks to pathology my little girl is now an amazing young woman” 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.