1. Overindulgence

It is no secret that yuletide is a season of overindulgence. During our end of year celebrations there is sure to be consumption of food and drink, and usually of the not-so-healthy kind.

To ensure we don’t get too carried away in the bottle shop during our Christmas preparations, the National Health and Medical Research Council (NHMRC) has thoughtfully released some updated guidelines on alcohol consumption – for the first time in 10 years. If you like a tipple during your time off, take heed, you might be overdoing it more than you realise.

The recommended weekly limit for alcohol intake has been lowered and the guidelines say Australian adults should be drinking no more than 10 standard drinks per week, while previous guidance suggested that up to 2 standard drinks a day, or 14 per week, was the maximum. These guidelines are based on the latest evidence which shows stronger links to cancer from consuming alcohol.

If you do overdo it during the break, or are otherwise concerned about the longer lasting effects of alcohol on your body you can talk to your doctor about alcohol intake, any symptoms you’re having and health risks. Depending on your lifestyle and any symptoms, your doctor may request pathology tests such as liver function tests or a kidney check. These organs filter our blood so heavy drinking can damage them over time, but early detection helps to manage any problems and limit long term complications.

Alcohol consumption is only one of several risk factors for developing cancer so it’s important to look at the whole picture. Your doctor can assess your individual risk factors based on medical and family history as well as lifestyle factors and the results of relevant pathology tests. It’s important to know what cancer screening tests you may be eligible for and discuss these with your doctor.

2. Yuletide not Spew-ltide!

While not wanting to dampen the festive foody fun, it’s important to ensure that all meat and seafood is properly cooked, and leftovers are stored appropriately. A dodgy prawn or slice of turkey could cause nasty stomach upsets but if symptoms such as vomiting and diarrhea last for more than 24 hours, a doctor’s appointment might be necessary.

Raw poultry or eggs can carry Campylobacter and Salmonella bacteria which can cause illness – commonly described as food poisoning. In otherwise healthy people, food-borne bacterial infections may clear up without medication but sometimes antibiotics may be needed. Testing a stool sample can determine what bacteria are present and help a doctor choose which antibiotic to prescribe.

However, the cause of the illness may not be bacterial. Vomiting and diarrhea can also be caused by some viruses such as norovirus, which spreads more easily between groups of people in close confinement; for example, a house packed to the rafters with extended family. So, if someone falls ill a trip to the doctor and some pathology testing might be necessary to determine the cause of illness, the appropriate treatment, and any measures needed to prevent the spread of the infection to others.

3. A gene is for life, not just for Christmas

The popularity of at-home genetic test kits is at a peak and many people will buy them as gifts for the relative ‘who has everything’. There is a broad spectrum of tests available – from tests mapping your genetic ancestry to those designed to predict cancer risk. Anyone looking to purchase an at-home DNA test should think carefully about the possible implications of test results before purchasing a kit – ESPECIALLY when buying for someone else.

• Tests that are performed outside Australia are not subject to the rigorous quality standards placed on Australian pathology labs and may not be in line with guidance from the Royal College of Pathologists of Australasia (RCPA) and the Human Genetics Society of Australia (HGSA).
• Provision of genetic counselling, both before and after tests, is very important to ensure the person being tested fully understands what they are signing up to, and what the results could mean. This can vary widely between providers.
• Once you know, you always know. Unless a loved one has specifically requested this as a gift, consider whether you can be completely sure they will want to take part in testing. When it comes to genetics, informed consent is key, remember everyone has a right NOT to know.

Online DNA test kits are not designed to be diagnostic so anybody worried about genetic risk factors for the disease should speak to their doctor.

These resources are available for more information about online DNA testing, and the HGSA has released its position statement here.

The post It’s a holly, jolly, pathology Christmas! first appeared on Know Pathology Know Healthcare.

Luisa’s mother and grandmother both passed away from breast cancer when she was young indicating that Luisa could be of heightened risk of developing the disease. Further investigation of her family tree revealed instances of breast and ovarian cancer on her father’s side, so the hereditary risk of developing a condition became greater still.

Luisa has been pursuing MRI checks for the last six years, but at an appointment this year, her specialist recommended genetic testing for a clearer picture of hereditary risk.

Luisa’s family all sought genetic testing and Luisa tested positive for a BRCA gene that confirmed the risk, so she underwent a preventative mastectomy this year.

Whilst this was a big step to take, Luisa says she feels “really lucky to have found out before anything happened, because most people discover they are a carrier of a gene following a cancer diagnosis”.

Genetic testing expert, Professor Rodney Scott, Director of Molecular Medicine at NSW Health Pathology, Hunter acknowledges that it is a big decision, but Luisa was acting based on the best information available.

“The tests performed in Australia are subject to a whole number of guidelines and recommendations and accreditations so that they’re as accurate as they can be. A preventative mastectomy will have reduced Luisa’s risk of breast cancer to the same as the rest of the population”.

More and more people are considering genetic testing to provide priceless data about their family history and risks of developing certain conditions.

Luisa says that the process was initially confronting, but ultimately what she now knows from the genetic tests is “amazing”.

Anyone seeking more information and support with breast cancer can contact Breast Cancer Network Australia.

*IMAGE: Luisa Lombardo pictured with Professor Rodney Scott at an appearance on Studio 10 discussing genetic testing for breast cancer 

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Genetic testing refers to specific genes or parts of genes and how those characteristics are passed through generations via DNA. Genomics refers to the entirety of an organism’s genes and analysing vast amounts of DNA data to find variations that impact health, disease, or drug response. Genomics in medicine can also refer to testing all the genes known to be related to a specific disorder e.g. all the genes known to cause intellectual disability or breast cancer.

The report found a 73% increase in molecular test requests over the past 5 ½ years, with more than 660,000 genetic or genomic tests reported during the 2016/2017 financial year.

More than 660,000 genetic/genomic tests were reported over the one-year survey period, which ran during the 2016/2017 financial year.

The field of genetics/genomics is exploring exciting new areas, such as pharmacogenetics – which allows a clinician to look at an individual’s genetic make-up and metabolism in order to prescribe the ideal drug and dosage.

People had genetic tests for a number of reasons, including cancer diagnosis and treatment, looking for inheritable genetic conditions, transplant monitoring, and prenatal screening.

It is also possible through genetic testing to determine which patients will and which won’t respond to a medicine, helping refine and personalise the treatment and to save significant amounts of money on expensive medicines that may not work.

Dr Melody Caramins, a genetic pathologist, explains that the developments in genetic medicine are both a boon to the healthcare sector and a challenge.

While promising a radical improvement in the way we treat patients, the genetics/genomics revolution is also presenting challenges to the medical field.

‘The development of genetic technology has been swift but because it’s moving so rapidly there’s a risk of clinicians not being up to date.

‘That puts a premium on the medical and pathology workforce to help upskill requesting doctors and to integrate these technologies into mainstream healthcare, because the benefits of using these tests responsibly can potentially be enormous.’

The RCPA data shows that GPs were the most frequent users of genomic testing, along with obstetricians, fertility, and foetal medicine specialists: this grouping was responsible for ordering half of the genetic and genomic tests conducted over the last 12 months.

Another way in which genetic/genomic testing is throwing forward challenges is in their funding, although that too has increased in recent years.

‘In 2011, Medicare funding covered about 35% of genetic tests. In the 2016/2017 period that figure rose to 49% of tests being covered by Medicare,’ said Dr Caramins.

‘That increase reflects both the increase in the number of tests being taken as well as the increase in the variety of tests being covered by the Medicare Benefit Schedule.’

The post From science fiction to science fact: the rise and rise of genetic testing first appeared on Know Pathology Know Healthcare.

April marks Fabry Awareness Month so we caught up with Megan Fookes, Managing Director of Fabry Australia, to find out more about the condition, the treatment available and how people living with Fabry disease rely on pathology.

What is Fabry disease?

Fabry disease is a hereditary genetic condition. A genetic mutation on a person’s X chromosome means they don’t produce enough alpha-galactosidase A (Alpha A). Alpha A is an enzyme essential for breaking down waste products in the body. A deficiency in the enzyme will, over time, lead to a build up of waste in the body’s cells which in turn leads to cell damage.

The symptoms of FD can vary a lot between cases, but they include pain in the hands and feet, sometimes spreading to other parts of the body, headaches and fatigue, gastrointestinal issues, hypohidrosis (lack of sweating), hearing impairment, clouded eyes, and skin lesions known as angiokeratomas. Over time, patients typically develop more serious symptoms that affect the kidneys, heart and brain.

How is Fabry disease diagnosed?

A blood test can measure the amount of Alpha A in the blood. People with Fabry disease will have low levels of, or even no, Alpha A in their blood.

Genetic testing can also be useful for diagnosing women, who may have normal levels of Alpha A in their blood. It was previously thought that women could be carriers but not develop symptoms of FD, but more recent research has shown that woman can have symptoms just like men.

Fabry Australia estimate that for every initial diagnosis of Fabry disease up to five other family members could be subsequently diagnosed.

It is likely that given the huge range of symptoms and potential for misdiagnosis, the number of people living with FD in Australia is higher than those currently diagnosed.

In Japan, for example, all babies are screened for FD at birth, and since this testing was introduced the number of people diagnosed in Japan has increased significantly. This is good news for patients – the earlier someone is diagnosed the better managed their condition is likely to be and the less likely they are to experience complications.

What treatment is available?

There is no cure for Fabry disease, but the condition can be managed. A person whose Fabry disease is not too severe will probably have an annual check up involving blood and urine tests to monitor kidney health as well as other tests to monitor their heart and brain.

For patients whose disease has progressed, the most widely used treatment is Enzyme Replacement Therapy. The missing enzyme, Alpha A, is administered to the patient once every two weeks via an IV. Studies have shown that ERT can greatly reduce pain, stabilize or improve renal function and cardiac abnormalities, and improve quality of life.

There is a second treatment option currently being researched in clinical trials. It is an oral therapy, but it is only effective for people with certain mutations of Fabry Disease. It won’t work for a person who has no Alpha A present. Testing therefore plays an important role in confirming who will benefit from treatment.

Fabry Australia is a Patient Association made up of members and families diagnosed with Fabry disease. They work to raise awareness about Fabry disease and are involved in research projects, fundraising, patient advocacy and support.

Megan’s parents were co-founders of Fabry Australia, after her father David Davie was diagnosed with the condition at the age of 48.

“One of the problems of suffering a rare disease such as Fabry is that any individual doctor is likely to have limited experience in treating the condition. As well as research and advocacy the specialized Fabry Clinics are a priority for us, so that people with the condition can access the best treatment possible.”

Find out more about Fabry Australia on their website.

*Pictured: Kidney biopsy from a patient with Fabry disease. 

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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.”

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One of the aims of Ovarian Cancer Awareness Month is to educate Australians on the diagnosis and treatment of ovarian cancer. Pathology plays a huge role in this, especially in some of the most recent breakthroughs improving outcomes for women diagnosed with the disease.

Last month it was announced that the Peter MacCallum Cancer Centre in Melbourne is launching the Traceback program. The program will test 11,000 tissue samples from women diagnosed with ovarian cancer between 2001 and 2016 to see if they carry the BRCA gene mutations.[2]

The BRCA 1 and BRCA 2 genes produce tumour suppressor proteins, which play an important role in repairing damaged DNA. But specific mutations in these genes can stop them from being able to perform this role effectively and therefore cells are more likely to develop additional mutations which can lead to cancer.

Previous research indicates that approximately 15% to 20% of ovarian cancer patients carry a BRCA mutation, and the program leaders at the Peter MacCallum estimate they could discover as many as 1,500 women who have the mutation and don’t yet know.

By arming them with this knowledge the program is helping women to take any necessary preventative measures or to have regular testing or screening, to avoid another cancer in the future.

The program is important not just for the women themselves but for their families too; having a relative with a BRCA mutation raises a person’s risk of also having a gene mutation that could increase the likelihood of developing several types of cancer.

Approximately 44% of women with a BRCA1 mutation, and 16% of women with a BRCA2 mutation, will develop ovarian cancer by the age of 80. This is compared to 1.3% of the general population. The risk of breast cancer also increases for women with a BRCA mutation – around 70% of women with either mutation will develop breast cancer by 80. The mutations are also linked to increased risks of pancreatic cancer for men and women and prostate cancer for men.

The recent announcement from the Peter MacCallum is just the latest in a growing list of improvements to the accessibility of genetic testing for Australian patients.

Last year, for example, it was announced that the Medicare Benefits Schedule (MBS) would offer a rebate to women with breast or ovarian cancer who have the test. And if a mutation is found, their family members will also be eligible to have the test.

Cancers are most treatable when they are detected early, but this is often long before symptoms develop. Knowing about a genetic risk factor can save many lives – and that’s why more access to appropriate pathology testing is such a powerful weapon.

[1] https://ovarian-cancer.canceraustralia.gov.au/statistics

[2] http://www.abc.net.au/news/2018-02-06/ovarian-cancer-patients-tissue-samples-brca-mutation-test/9397470

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Minister for Aged Care and Minister for Indigenous Health, Ken Wyatt AM, said the $9.4 million grant to Flinders University’s College of Medicine and Public Health would help tackle the world’s leading cause of irreversible blindness.

“The potential to personalise treatment through genetics is exciting because glaucoma already affects approximately 300,000 Australians, with up to 80 million predicted to suffer from the disease worldwide by 2020,” Minister Wyatt said.

“It’s long been known that a family history of glaucoma means increased risk but there are no symptoms or warning signs in the early stages.

“Testing is vital and, although there is no cure, with treatment glaucoma can be controlled and further loss of sight either prevented or slowed.”

Glaucoma is a group of eye diseases in which the optic nerve at the back of the eye is slowly destroyed. In most people this damage is due to an increased pressure inside the eye as a result of a build-up of fluid.

Sight loss is usually gradual and a considerable amount of peripheral vision may be gone before people are aware of any problem.

Member for Boothby, Nicolle Flint MP, said the research grant would support the work of Flinders University.
“Eye and vision science is one of Flinders University’s key strengths in both teaching and research,” Ms Flint said.

“Researchers at Flinders University will examine new ways to diagnose and treat glaucoma, promising better outcomes for patients. Improved care will also result from better targeting of treatments and monitoring of low risk cases.

“Health and medical research is a powerful investment and one that delivers immense benefits to patients and to the economy.”

The annual economic cost of glaucoma in Australia has been estimated at more than $144 million.

“Research based on knowledge of the genes that lead to glaucoma blindness will have important real-world impacts in reducing the worldwide suffering caused by this common condition,” Minister Wyatt said.

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Fortunately, genetic variations are not all bad news, there are ways in which they can have positive effects and scientists are constantly learning more about our genes that could help inform new tests and treatments.

Here are a few examples of some genetic discoveries that could have a future impact on our health.

Unbreakable bones – the LRP5 gene

Scientists have been aware for some time that a mutation in the LRP5 gene that regulates bone density could cause low bone density, making bones weaker.

However, a different mutation in the LRP5 gene can also cause an uncommon disorder in which bone density is greatly increased making the bones very strong and resistant to fractures. Scientists at Yale who were working on different patients discovered that they had the same unusual trait of dense bones; when comparing notes and looking at the patients’ family tree, they worked out these were different members of one extended family. Through blood samples provided by 20 family members and DNA mapping they discovered a gene mutation in LRP5 that was causing the ‘unbreakable’ bones.

Research is ongoing in this area but it is hoped that knowing more about this gene could help researchers find better treatment for conditions affecting the bones including osteoporosis.

HIV resistance inherited from plague survivors

A mutation in the CCR5 gene known as CCR5-delta32 is associated with resistance to HIV infection. The mutation is not common but is seen more often in people of European descent.

Researchers at the University of Liverpool in the UK found this resistance was likely to have been developed due to ancestors in northern Europe who survived the ‘plagues’ of the Middle Ages. Despite the name, these plagues were not the bubonic plague (an illness that was bacterial not viral) but were epidemics of a severe, viral haemorrhagic fever that swept across Europe for 300 years from the mid-1300s.

The virus is thought to have used the CCR5 gene as the entry point into the immune system, acting in a similar way to HIV, which is the reason the CCR5-delta32 mutation, that blocks entry of the virus, allowed some Europeans to survive the deadly fever and pass on their genes to subsequent generations.

This knowledge could contribute to a cure for HIV and researchers are investigating how the CCR5-delta32 mutation could be used along with stem cell transplant technology to treat people with HIV.

The malaria protection puzzle

Scientists have known for a while that some people are naturally resistant to malaria and that resistance has a genetic cause.

The latest research comes from a recent study that compared genomic data from over 700 hundred people in Africa to genomes from the 1000 Genomes project as well as 4500 people with severe malaria who had previously had their genomes sequenced.

They found that differences in the GYPA and GYPB genes were present in many of those from eastern African nations but were not present in West Africa. These variations lead to an increase in malaria resistance of around 40%.

Other genes also offer malaria resistance. The HbC gene that affects haemoglobin (a protein in the blood carrying oxygen) has also been found to give protection against malaria. A single copy of the gene offers around 29% protection, but 2 copies gives around 93% protection.

As with the GYPA and GYPB genetic mutations, there are questions over why this protective genetic trait is not more common in Africa, particularly in regions badly affected by malaria. It could be that these are relatively new mutations which only began to appear shortly before the research was conducted. It could also be that there is some sort of negative effect of these mutations that limits how readily they are passed on.

Another piece of the puzzle is the HbS mutation which is common in sub-Saharan Africa; a single copy of the gene offers significant malaria protection. However, 2 copies cause sickle cell anaemia, a disease that shortens life expectancy and has a host of complications including stroke and organ damage. The seriousness of the disease means that scientists would expect the gene mutation to be less common than the HbS mutation, because higher rates of illness and mortality would make it less likely to be passed on.

All of this information can help scientists to better understand the devastating effects of malaria and to fight it more effectively.

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What is Lynch syndrome?

Lynch syndrome is an inherited genetic mutation that means a person has an increased chance of developing certain cancers during their lifetime, often at a younger age than the general population.

The genes in question are mismatch repair (MMR) genes including MLH1, MSH2, MSH6, PMS2, and EPCAM-TACSTD1. These genes are responsible for fixing mistakes made when DNA is copied to prepare for cell division, which is part of the body’s everyday repair and growth mechanism.

Usually a person will inherit two working copies of these genes, one from each parent. People with Lynch syndrome inherit a working copy and a non-working copy.

The defects in the MMR genes mean that copied DNA can contain mistakes – as cells divide, these errors accumulate and uncontrollable cell growth may lead to cancer.

Many cancers are associated with Lynch syndrome, including ovarian, stomach and pancreatic cancer. The most common cancers associated with the condition, however, are bowel cancer and endometrial cancer.

Pathology testing

Lynch syndrome is diagnosed via a blood test. It is an inherited condition and parents with Lynch syndrome have a 50% chance of passing the condition on to their children. Lynch syndrome cannot skip a generation so if a child does not inherit it, they cannot pass it on to their own children.

Risk factors, aside from a family history of Lynch syndrome, is a strong family history of cancer occurring at a younger than normal age such as below age 50. The first step in being tested is to speak to a doctor about your family history of cancer. If appropriate, a doctor will refer patients for genetic counselling and testing.

Lynch Syndrome Australia advises using their “3,2,1 rule” to help people decide if they are at risk:

3 or more family members (including you) have been diagnosed with a Lynch syndrome associated cancer.

2 consecutive generations or more are affected.

1 affected family member is diagnosed with a Lynch syndrome associated cancer before 50 years of age.

Benefits of testing

It is an individual decision whether or not to be tested for Lynch syndrome but a diagnosis can help someone to manage their cancer risk and can potentially help family members.

If deemed at risk, a person will be referred to a specialist service such as a hereditary cancer centre. A genetic counsellor talks through the options and answers any questions to help someone make their decision about getting tested.

If diagnosed, depending on which gene mutation someone has, enhanced monitoring or preventative procedures may be offered. For example, for people with an MLH1 or MSH2 gene mutation, annual colonoscopy is recommended from age 25, or age 30 if the mutation is in the MSH6 or PMS2 gene. For women with a TAH-BSO mutation, hysterectomy and oophorectomy (removing the ovaries) is recommended before the age of 40.

Lynch syndrome can also mean that cancer advances more quickly, so a diagnosis can help someone catch cancer earlier giving a better chance of successful treatment.

As people with Lynch syndrome are more susceptible to cancer at a younger age, a diagnosis can affect some life decisions, in particular for women of child-bearing age.

Lynch Syndrome Australia is committed to raising awareness about the condition so that early diagnosis can help people be better informed and make choices about their health and their future.

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A genetic test can be used to determine the best treatment for a disorder. For example, a genetic test of a person’s cancer can be used to identify those cancers which are likely to respond to a particular drug treatment.

On 1^st February 2017, a new genetic test will be added to the Medicare Benefits Schedule (MBS) that helps women with advanced ovarian cancer.

This test identifies women whose ovarian cancer is likely to respond to a chemotherapy drug called olaparib.

This new test accompanies the new listing of olaparib on the Pharmaceutical Benefits Scheme (PBS). Until now the drug has been largely inaccessible in Australia due to cost.

Both the new test and the new drug will become more readily available to Australians as they are now subsidised under Medicare for eligible patients.

The test examines the woman’s BRCA1 and BRCA2 genes. Women who have an inherited error in either gene are more likely to have a cancer which will respond to olaparib.

Dr Melody Caramins, an ambassador for Pathology Awareness Australia, was thrilled to hear of the upcoming addition to the MBS;

“This news will bring tremendous hope to women at an unbelievably stressful time in their life. Previously, the cost of the drug would have been prohibitive to many women, especially on top of their other out of pocket costs for investigations and monitoring.”

The drug is not proven to be effective for women without the BRCA gene mutation. Therefore it was only recommended as economically viable on the basis that a companion diagnostic test be made available that would determine if a woman was suitable or not. Dr Caramins said;

“By using BRCA testing before administering olaparib to the patient, doctors can avoid prescribing the drug to a woman who is unlikely to benefit from it, therefore saving them unnecessary treatment and side effects. Not to mention we avoid wasting healthcare dollars on ineffective treatment.

“By increasing the availability of these kinds of companion diagnostics we are opening up new channels of life-saving treatment for Australians. And that’s fantastic news all round.”

In patients who respond to treatment, olaparib can increase survival time almost threefold and improve quality of life for patients as it has less side effects than current treatments.

In addition to predicting the response to treatment, genetic testing can also be used to predict the risk of disease, including the risk among family members.

An application to add genetic testing for familial ovarian and breast cancer to the MBS has now cleared a major hurdle, with funding recommended by the Medical Services Advisory Committee (MSAC) of the Federal Department of Health. This recommendation is currently under consideration by the Minister of Health.

An inherited error in one of several genes, including BRCA1 and BRCA2, can place a woman at increased risk of developing breast and ovarian cancer. If a woman is affected by breast or ovarian cancer, a doctor can use her personal and family history to assess whether she is likely to have such a mutation and recommend that she be tested. If approved by the Minister, the cost of testing would be covered by Medicare.

For the affected woman, the identification of a mutation would place her at increased risk of developing breast or ovarian cancer a second time, and she can take specific precautions to reduce the risk of this occurring.

For the woman’s relatives, the impact is even greater. When a mutation is found, family members can have testing to clarify their own risk of developing breast and ovarian cancer – and of passing the same mutation on to their children. Female relatives with a mutation can take specific precautions to reduce the chance of a serious cancer diagnosis, while those who have not inherited the mutation can be spared unnecessary screening and anxiety.

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