In this video, Michael – who started studying biological science – comes behind the scenes to see how Australia’s world-class pathology labs help diagnose and treat cancers, and he meets the pathologist who managed his case. The Melbourne International Comedy Festival and Michael’s show has begun already, to catch Michael’s upcoming shows, check out this page.

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Dual-trained as haematologists and physicians, the doctors perform the important task of diagnosing cancers and helping guide and administer treatment.

Usually holed up indoors, today they are stepping out of the lab and surgery in a display of solidarity with the patients whose cancers they help uncover and treat.

At 5 o’clock today, the doctors head to the Shambles Brewery in North Hobart to shave their heads for the World’s Greatest Shave.

‘Getting a taste of their own medicine,’ is how Dr Johnston describes it.

The pair originally discussed the fundraising venture during their lunch break, but admittedly, Dr Batt has more to lose than Dr Johnston, in the hair stakes that is.

Dr Johnston is awake to the sacrifice, noting ‘Tracey has long beautiful hair, while mine is fairly short already. Not that my nine-year-old daughter hasn’t raised concerns.’

But Dr Batt’s loss will be the gain of ‘Sustainable Salons’, an organisation that makes wigs from real hair and of course the World’s Greatest Shave that seeks to raise money for research and support of those living with blood cancers.

‘It’s true,’ said Dr Batt, ‘that I have bountiful hair and that will be hard to lose, but given we’ve raised around $9,000 so far makes it all worthwhile.’

Outside the display of solidarity with blood cancer patients and the money raised for blood cancer research, day-to-day haematologists like Dr Batt and Dr Johnston perform vital work.

100% of cancers like leukaemia or lymphoma are diagnosed in pathology labs. The discoveries made in a pathology lab are also central to decisions on how to treat blood cancers.

‘This afternoon we’re about to shave our heads to raise money for the World’s Greatest Shave, which we’re really excited about and feel is really important to draw attention to,’ said Dr Johnston.

‘Blood cancer is the third most common cause of cancer death in Australia,’ added Dr Batt. ‘so, it’s great to be able to support people with blood cancers both inside and outside a medical environment.’

To donate to Dr Johnston and Dr Batt click on the links here and here.

For fast-facts on blood cancers click here

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Mito is difficult to diagnose as symptoms can range from mild to severe and can impact many different organs and body systems. The most severe forms of mito can lead to mortality or significant disability.

Currently the treatment options for mito are limited so preventative options are very important to avoid the devastating impacts on individuals and families.

Some options are available at the moment for women who are planning a family and are at increased risk of having a child with mito. Pre-implantation genetic diagnosis (PGD) and in-vitro fertilisation (IVF) using donated eggs are possibilities but PGD is not suitable for women at high risk of having a child with mito. Another option may be on the horizon for couples to have children who are genetically related to both parents; mitochondrial donation.

The technique involves replacing the mitochondrial DNA in the mother’s egg with DNA from a donor egg. This represents less than 0.1% of the mother’s genetic material that is being passed on to her baby, but when a mother has a high risk of passing on mutated mitochondrial DNA, this could save her child from a potentially life-threatening or highly debilitating illness.

Currently the practice is illegal in Australia as it contravenes laws against cloning and research involving human embryos. However, in June 2018 the Senate Community Affairs References Committee recommended that the government begin taking steps towards potentially legalising mitochondrial donation.

Professor David Thorburn is co-Group Leader of Brain & Mitochondrial Research at the Murdoch Children’s Research Institute and has worked on mito for over 25 years. He is also a founding director of the Mito Foundation and the Chair of their Scientific & Medical Advisory Panel. We asked Prof Thorburn some questions about mitochondrial donation.

1. How does a woman know she is a carrier of mito?

Most women don’t know they have a chance to pass on mito. Some families have strong maternal histories with multiple cases of mito being passed down maternal lines so the risk is clear. Some women may also have found out about their mito risk after having a child die in infancy. Sometimes a woman may have a child with severe mito and then had genetic testing herself for mutations. On closer questioning and investigation doctors may uncover symptoms in the mother that were not previously attributed to mito such as problems with sight, mild hearing loss or exercise intolerance. More often than not there is no known family history.

2. Can women be screened before conception?

It is possible for women at high risk, who have a family history of mito to be screened. As with most other genetic diseases we do not have broad population screening.

This is in part because it is much harder to screen for mitochondrial DNA as some mutations can disappear from the blood with age so would not show up on a blood test. We can use a muscle biopsy to test for mito but this is more invasive so we often test urine as the mutation can be present in urine sediment when not detectable in the blood. However, in around a quarter of cases where the child is diagnosed with mito, no mutation is detected in the mother when she is tested. This may be due to what’s known as a de novo event – a one off mutation in that single egg that was fertilised that led to the child having mito. Due to these complexities it is currently impractical to screen all women for mito.

3. How many births could be helped by the introduction of mitochondrial donation?

Based on studies from the UK and extrapolated to the Australian context, the Mito Foundation estimates about 56 births per year in Australia are at high risk of having a child with mito.

Only a proportion of those would be wanting to access mito donation as current options are suitable for some couples, including prenatal diagnosis, preimplantation genetic diagnosis or using a full donor egg for IVF. These may be the preferred options for a woman depending on her circumstances and in many cases a woman may need to try one of these options first before being able to access mitochondrial donation.

4. How will babies be monitored for complications?

There has been extensive research done in the UK to ensure this technique is as safe as possible. The first families to use the technique in Australia would be part of a clinical trial. In the UK model families gave consent for samples such as umbilical cord and the newborn blood screening spots to be kept for pathology testing. This looked for the mutation that the mother had to see if it had been passed to the child – and how much of that mutated DNA the child had received. During their development a child would have some extra tests but these would be done with the normal checks that children receive in their early life, checking again for the presence of the mutation and any change in the amount of that DNA.

Australia is well regarded as a leading nation in mitochondrial diagnosis and IVF technologies. This technique requires significant expertise in molecular testing and reproductive biology. The Senate committee examined the provision of pathology services and were reassured that the accreditation and quality systems that Australian pathology laboratories adhere to are first class. This would enable the ground-breaking technique of mitochondrial donation to become a reality for Australian families.

The post Why three person babies could soon be legal in Australia first appeared on Know Pathology Know Healthcare.

Pathology Update 2019 will operate under the theme of ‘The power of personalised pathology’ where delegates and guests of the event are invited for a weekend of learning, networking, and fun.

While the event officially starts on Friday the 22^nd and runs through to Sunday the 24^th, February 2019.

Pathology Update is the only scientific multi-disciplinary meeting in Australasia and is open to pathologists, scientists, trainees and healthcare workers to attend. The scientific program offers something for everyone and brings all delegates together daily for an interesting masterclass and plenary session.

The official program kicks off on Friday morning at 9am and runs through to 3pm on Sunday, where an impressive array of esteemed national and eleven international speakers will address attendees on a variety of disciplines, ranging from genetics to immunopathology to anatomical pathology to microbiology to forensics.

The topics to be presented include HPV clinical problems & epidemiology, the clinical utility of circulating tumour DNA in haematological malignancies, and the role of the reference laboratory in outbreak investigations to name but a few.

With subject matter experts and leaders in their field, it’s a fantastic opportunity to learn more as well as to network.

Opportunities to socialise with colleagues and peers, start with the Welcome Cocktail Party on Friday evening, to be followed on Saturday evening by the College Fellows and Award Winners event where new entrants will be admitted. And just to cover the spread, there will also be rose and sparkling closing drinks on Sunday from 3-4pm.

And for those involved with Pathology Awareness Australia (PAA) and the know pathology know healthcare (KPKH) initiative, there will be a PAA ambassador’s breakfast on Saturday the 23^rd from 7.00-8.30am 23 February where plans for raising the profile of pathogy in Australia in 2019 will be discussed. All enquiries may be sent to Shinasa Enayeth.

To find out more about the Pathology Update 2019 event and to register, please visit the dedicated site here. For more details please contact the RCPA via the contact details here.

The post Pathology Update 2019 event: ‘the power of personalised pathology’ first appeared on Know Pathology Know Healthcare.

In a globalised world, where people are continually moving between countries, the prospect of serious health conditions spreading through Australia and the Asia Pacific region is a serious and ongoing concern, as evidenced by outbreaks of influenza in the region in recent decades.

The threat was serious enough to spur the national government to spend $194 million between 2006 and 2015 in the Asia Pacific on preventing the spread of emerging infectious diseases (IEDs) like bird flu, swine flu and rabies.

On September 1 the Victorian government instituted changes to its infectious conditions’ strategy. Under the new changes, a medical practitioner who reasonably suspects someone of carrying an ‘urgent’ condition must notify the Department of Health and Human Services (DHHS) immediately by phone after initial diagnosis or based on clinical suspicion.

Urgent conditions include anthrax, plague, poliovirus, yellow fever, typhoid, meningitis and SARS – Instead of four reporting groups there are now two, ‘urgent’ and ‘routine’. Ten of the conditions that medical practitioners are no longer required to notify the department of health on include: Ross River virus infection, influenza, and hepatitis viral.

The thin red line

That’s not to suggest those conditions are forgotten about. The back-stop and fail-safe is Victoria’s pathology services that will continue to notify the department of conditions identified through test results in the lab.

Pathology services must notify the requesting clinician and DHHS of urgent conditions – as well as legionellosis, listeriosis, Hepatitis A, and measles – by phone.

Pathology plays a critical role in identifying emerging infectious disease trends and threats. Many infections present with similar symptoms; therefore, pathology testing is required for establishing the correct diagnosis. The public health interventions of vaccination, drug therapy and patient isolation cannot occur until an accurate patient diagnosis has been obtained

With diseases and conditions capable of moving much faster than government process, it is vital that the government rely on Victoria’s pathology services to notice developing issues and trends.

What you do not want is to encounter is a Public Health Emergency of International Concern (PHEIC). The Ebola virus is an example of a PHEIC, and in 2007 the Zika virus was identified in the Pacific and declared a PHEIC in 2015.

A/Professor Rob Baird, a national microbiology expert, explains how pathology helps keep people safe in normal times and what pathologists would do in – and to identify – emergency situations:

‘While all medical practitioners rightly look at symptoms of infectious diseases, microbiology diagnostic testing is critical to confirming and identifying any suspected condition in the lab,’ says Prof Baird.

‘We deal with urgent conditions all the time: for example, meningococcal disease remains in the community, measles is highly contagious (and imported), tuberculosis which now can be significantly antibiotic resistant remains a threat, and returned travellers can bring Hepatitis A, antibiotic resistant gonorrhoea, and typhoid all back from their journeys.

‘These conditions all require rapid laboratory confirmation and as soon as results indicate these conditions, DHHS is informed, as is the clinician looking after the patient to ensure an adequate public health response, and patient management occurs.’

There are over 30 infectious diseases on the urgent notification list, and laboratories have made significant investments in rapid diagnostic testing equipment to ensure accuracy and speedy turnaround time of results.

Recent influenza outbreaks have tested the systems, and national quality control is in place in all accredited laboratories, but most importantly, it is the presence of trained scientific and medical staff in these labs, which provides the vital “thin red line” protecting Australians’ health.

The post Outbreak: what would happen if a pandemic disease swept the nation? first appeared on Know Pathology Know Healthcare.

Although the claims made by some direct to consumer tests have been called into question at times, genetic testing for medical reasons is an invaluable tool that helps health professionals make diagnoses, assess certain health risks and guide treatment of some conditions.

Pathology services test around 12 million Australians every year and for patients these interactions can seem routine and straightforward – blood is drawn and then the doctor gives the all clear, writes a prescription or provides some advice about lifestyle changes or when to have the next check-up.

Some genetic tests are also routine and straightforward, either confirming a known diagnosis or providing a clue as to the best treatment. But for other genetic tests, the experience is anything but routine. This is especially true if the test result carries significant implications for your future or the health of your relatives.

What is genetic counselling?

When faced with complex information that has implications both for the future and for other people, it is helpful to have an expert guide. A genetic counsellor is an accredited health professional who understands both the science and personal significance of genetics. In the same way that a doctor or lawyer uses her expertise to help you make your own decisions, a genetic counsellor uses his expertise in genetics and communication to help individuals and families understand, use, and share genetic information.

For example, consider the situation in which a couple has genetic carrier screening prior to pregnancy to determine if they are likely to have a child with a genetic disorder. Such testing may show that both parents have genes that can cause genetic disorders such as fragile X syndrome, spinal muscular atrophy and cystic fibrosis in their child. The expert guidance of a genetic counsellor can help the couple to understand the test result and use the information in a way that is best for them.

Another example would be testing of the BRCA genes in a woman with familial breast cancer.

The result of her test could have major implications for her relatives (both male and female) regarding their health and cancer risks to their children. The concerns for the woman with cancer and for her well-but-worried relatives could be very different.

A genetic test for familial disorders such as these can be thought of as looking backwards, potentially explaining a disease that has already happened in the family. The same test can be seen as looking forwards, providing information about the possibility of future disease in the person tested. And, in a sense, the test can be thought of as looking sideways, potentially providing information that will be relevant to other family members. These perspectives can get complex!

Sharing this information wisely within the family is not necessarily easy. That’s where a genetic counsellor can help, providing information, guidance, and expertise about what the test result means and how it can be used, now and in the future, by different members of the family.

Why should I talk to a genetic counsellor? Can’t I just ask my doctor?

A genetic test for a familial disorder can raise a host of questions about the science of the test, medical consequences of a result, and social, psychological, financial, and legal issues associated with the test result. Some doctors know about such matters for the tests they order, and your doctor is always the best and first place to ask your questions. However, the doctor may not have the expertise or the time (or both) to answer your questions to your satisfaction. Alternatively, the doctor may be able to answer your questions before the test is done, but you require more detailed and specific answers once the test has been reported to you. These would be situations in which referral to a genetic counsellor could be very helpful.

Genetic counsellors are available in public hospitals across Australia, and in private practices in most states and territories.

Some provide both face-to-face appointments and telephone or telemedicine appointments. They may recommend that you have a referral from your doctor or they may accept a self-referral without a letter from your doctor.

Health matters and family history may be taboo for some people but genetic counsellors have the skills to ask difficult questions and overcome these barriers. They are also required to tease out preconceptions and make sure people are armed with the facts in order to understand their options and what results may (or may not) tell them.

If tests results have implications for the extended family, relationships can create extra difficulties such as speaking to estranged family members. A genetic counsellor can help guide the timing and content of that communication with relatives.

The right NOT to know

One of the issues with a genetic test is that your DNA does not change and once you know something about your genes, you can’t ‘un-know’ it. This can be an important consideration for people in deciding whether they want to get tested, if they would prefer not to know or if they would prefer to delay testing. Talking to a genetic counsellor may reveal that someone feels pressured by their family, health professionals or even themselves – feeling that they SHOULD get tested, even though they might not want to. These decisions are very personal and a person always has the right not to know.

Genetic pathologist Dr Graeme Suthers said, “As genetics is an area where we are seeing a lot of growth, ensuring informed consent for tests is increasingly important. The skills and experience of genetic counsellors are highly valuable as a link between patients, pathology and clinicians.

It is also essential that we continue to upskill general practitioners and specialists ordering these tests for their role in supporting patients to navigate through decision making and understanding results, as well as referring to genetic counselling. We want to provide appropriate and informed access to genetics service for all Australians.”

There is a register of genetic counsellors available on the Human Genetics Society of Australasia (HGSA) website plus more information about genetic counselling.

The post Why genetic counselling is sometimes necessary, not just nice first appeared on Know Pathology Know Healthcare.

Overdiagnosis can be defined as “when the diagnosis is correct according to current standards of diagnosis but where the patient does not benefit from that diagnosis,” in other words, the patient is better off not knowing.

Pathology’s role in this debate is unique. Despite being the medical discipline performing diagnostic tests (and other tests), pathology labs are not responsible for ordering tests, and unless the circumstances are exceptional, pathology labs do not discuss results with patients directly.

If the pathology profession is simply responding to the needs of doctors (and their patients), is this really pathology’s problem?

A review of the evidence suggests that although there is over-testing in some areas, there is far more under-testing going on. Published in the Public Library of Science, (PLoS) 1 in 2013, The Landscape of Inappropriate Laboratory Testing: A 15-Year MetaAnalysis showed that on average, the rate of pathology overuse was 20.6% but pathology underuse was 44.8%.

In the study, underutilization of pathology refers to tests indicated but not ordered. This means where a doctor would have grounds to order a test – for example based on symptoms or family history – but chooses not to request the test for that patient.

The research suggested that earlier use of pathology testing during medical investigations could lead to better care.

Although we can clearly improve on overuse of pathology, we need to be very careful that we don’t view every negative or normal result as an over-test.

Normal results are powerful for patient peace of mind, and they help doctors in their differential diagnosis process – ruling out the first round of possibilities before other avenues are explored – including more expensive, time-consuming or invasive procedures.

Pathology is pivotal in preventative healthcare – for example, detecting a high glycated haemoglobin (HbA1c) result could trigger someone to make lifestyle changes that improve their health and help them stave off Type II diabetes.

This is where education and communication can be better utilised to create the balance we need.

When ordering tests, General Practitioners assess what is appropriate given a patient’s symptoms, medical history, age and other factors affecting disease risk. However, it’s important that patients understand this process – what the tests are, why they are being recommended and that testing is optional, patients can choose not to be tested or to delay testing if they wish.

In addition to the five questions that NPS MedicineWise recommends a patient ask their doctor before having any test or procedure, we could add one more: what will the results tell me?

In addition to knowing why a doctor is recommending the test, a patient should understand what the results might tell them. For example, will the result be delivered as a diagnostic positive/ negative? Will it show an increased risk to be managed for the future?

There are many different types of pathology test – some will detect a disease, some will show levels of chemicals such as hormones, proteins, antigens in the blood, some results will identify genes linked to disease. All of these results have different meanings and implications for treatment or other next steps. This information could inform a patient’s decision about whether to have the test and make receiving the results easier as they will know what to expect.

To support clinicians in their communication with patients, pathologists and medical scientists spend significant time in conversation with treating doctors, helping them make sense of pathology results and slotting them into the bigger medical puzzle.

As well as being part of the medical puzzle for individuals, pathology is an important public health tool.

The National Notifiable Diseases Surveillance System relies on pathology testing to confirm a number of diseases that have public health implications. This allows health authorities to track outbreaks of communicable diseases, food or water borne illnesses and to monitor epidemics and seasonal variations.

Without laboratory confirmation accurate tracking of these diseases would be impossible, leaving health authorities in the dark and potentially placing people in danger unnecessarily.

Discouraging doctors from doing ‘too much testing’ or giving reluctant patients further reason to avoid the doctor’s office could have consequences beyond the individual. On the flipside, promoting health literacy across the population enables people to make better decisions about their health and can improve patient-doctor interactions.

Some trusted sources of information that can help clinicians educate their patients about pathology include the Know Pathology Know Healthcare initiative, we partner with Lab Tests Online for in depth information about individual tests for consumers.

Patient education should be a shared responsibility across the health professions, as well as for patients themselves, but the power of the informed patient to create a healthier nation should not be underestimated.

The post Fear of overdiagnosis could put preventative healthcare in danger first appeared on Know Pathology Know Healthcare.

Eva Peron

Eva Peron’s life has all the touchstones of high drama. Born in a poor village she left for Buenos Aires to pursue an acting career when she met and married future Argentine President, Juan Peron. No shrinking political violet, she ran the ministries of labour and health. Her life’s story has proven irresistible – spawning endless books, films, television series and the musical Evita.

After fainting at a public event in 1950, it was discovered she had advanced cervical cancer. She died soon after in 1952, aged 33. The basis of cervical cancer is the Human papilloma virus (HPV), which today can be picked by an HPV pathology test. Replacing the pap smear test in 2017, the HPV test can be taken every 5 years.

Vivien Leigh

Vivien Leigh made her name in two of Hollywood’s great mid-century blockbusters, Gone with the Wind and A Streetcar Named Desire. Shortly after starring in Gone with the Wind and marrying Laurence Olivier, she was diagnosed with tuberculosis, a condition she had recurrent bouts of and which killed her at age 53.

Today, a quarter of the world’s population carry the Mycobacterium tuberculosis bacteria that leads to tuberculosis, but only 5-10% will get sick. Those with weakened immune systems or with already damaged lungs are most susceptible. There are several tests available for tuberculosis which is treatable with a course of medication.

Freddie Mercury

The best-known Zoroastrian in the world – also known as the lead singer and songwriter of rock outfit, Queen – Freddie Mercury died as a result of AIDS in 1991 at 45 after being diagnosed with the condition in 1986. His life was unfortunately just out of sync with the development of HIV medicines, the first experimental AIDS vaccine tested in the US declared safe in 1991.

While Freddie might not have benefitted from early detection of HIV given the medical treatment for HIV was not yet developed commercially, today, anyone else can have an HIV test, and if found positive can seek treatment before it develops into AIDS.

Al Capone

Ultimately nabbed by the United States government for tax evasion and given an 11-year spell in the Atlanta Penitentiary and Alcatraz, Al Capone made his fortune during the Prohibition as a Chicago mobster. It was up like a rocket and down like a stick for Capone. By the ripe age of 33 he was in prison, being released 8 years later.

But his freedom wasn’t what it might have been. At some stage Capone contracted syphilis and upon his release in 1947 was suffering syphilitic dementia. A simple syphilis test for the pathogen Treponema pallidum would have revealed the condition and a course of penicillin would have cured him.

Wolfgang Amadeus Mozart

A workhorse to the end, Wolfgang Amadeus Mozart was still composing his last masterpiece ‘Requiem’ on his deathbed when he struck a final, sour note, dying at the age of 35, having produced an unbelievable body of work. The cause? As happens in old cases, theories abound, but it’s argued that new evidence points to the cause of death as being kidney damage caused by strep throat.

There was an epidemic of strep throat in 1791. The culprit, the Streptococcus pyogenes bacteria. A simple Rapid antigen or throat culture test can detect strep throat and then a course of antibiotics is all you need to clear it up. Unless it was death by pork chop, as suggested here. Either way his premature death was a tragic conclusion for Wolfy and the human race. 

That the world was deprived of the unique talents of so many people is sad but also points to how far we’ve come in the detection of medical conditions.

‘Today, we’re extremely fortunate that we can pick up on conditions early so that appropriate medical treatment can begin,’ says microbiologist, Dr Petra Derrington.

‘With the developments in testing and medical treatments over the last century or so, conditions that once proved fatal, need not be the tragedies they once were.’

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