Friday, 16 June 2017

Perth's Dynamic Duo

The dynamic duo of brother and sister, Dr Jason Tan and Mrs Vivien Yap, have a few things in common – they are both self-made, incredibly dedicated to their work and believe in giving back to the community. 

Mrs Yap and Dr Tan at the After-School All-Stars' Charity Event.
Growing up in Perth, they have always been there for each other and supportive of each other especially in their respective charity endeavours. 

Dr Tan founded the WOMEN Centre, the first private centre for women’s health in the Western Australia that engages in a multidisciplinary approach and treats the patient as a whole person, not just a disease or condition, until she regains her quality of life. 

Mrs Yap, on the other hand, was a pharmacist who built two successful pharmacies before switching to real estate that saw her on the fast lane to success, which earned her the reputation of the lady with the golden touch in the highly competitive real estate business and two thriving real estate agencies, LJ Hooker Dalkeith and Claremont

Dr Tan is actively involved in raising funds for gynaecological research with the St John of God Foundation. Funding for gynaecological research is not only channelled to finding a cure for gynaecological cancer, but prevention, side-effects of treatment, impact on psychological and sexual health as well as quality of life, and survivorship. A wholistic approach and more research are needed to ensure patient are not just living, but living well. More about the fundraising here

Dr Tan finished 1st runner-up at the charity's poker tournament.
Mrs Yap has always supported Dr Tan’s charity efforts and when she was personally invited by Mr Arnold Schwarzenegger, whom she met earlier this year at a business conference, to participate in the charity that he founded – she did not hesitate to count on her little brother to be her partner in crime, or rather, in good cause. 

The charity, After-School All-Stars, which is supported by Mr Schwarzenegger’s famous celebrity friends such as Mr Sylvester Stallone and Mr Tom Arnold, aims to raise funds for after school programs for low-income and at risk youth to help keep them safe and succeed in school and in life.


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Friday, 26 May 2017

Hereditary Cancer and Genetic Testing: 1 Size Does Not Fit All

By Sarah O'Sullivan, Genetic Counsellor

The Role of Genetic Counselling and Testing 

Genetic counselling and genetic testing can provide information that is life-saving – a person who did not know they carry a cancer predisposition gene fault can gain this knowledge and more importantly, the opportunity to implement effective risk reduction strategies.

In 2013, a light was shone on this important area of preventative healthcare by Angelina Jolie, who shared her personal experience of cancer genetics – testing had shown that she carries a BRCA1 gene fault, which causes Hereditary Breast/Ovarian Cancer (HBOC), and at the time she was undertaking preventative surgery to minimise her risk of breast cancer.

In the space of one New York Times opinion piece, increased awareness of cancer genetics was achieved in a way that had not been seen before.

While this outcome was overwhelmingly positive, for some people – patients and healthcare providers alike – a perception was created that there is a single genetic test that provides conclusive results about cancer risks and risk management options.

In practice, cancer genetics is rarely straight forward, and genetic counselling can help to simplify the pathway.


There are many genetic tests that can provide much useful information, but these tests also have the potential to raise more questions than are answered.

The Important Factors to Consider in Cancer Genetics


There is no 'one size fits all' cancer genetics test, and an individualised approach to the potential advantages and limitations of genetic testing is essential.

For every patient who considers genetic testing for hereditary cancer, there are many factors to consider before testing proceeds:

What is the patient's personal and family history of cancer?

  • Are they suggestive of a cancer predisposition syndrome that warrants testing of one or two genes only? Or would testing a broader panel of genes be more informative?
  • Could the patient be reassured that he/she is at general population risk of cancer? 

Has genetic testing been undertaken in another family member? 

  • If so, what is the result and what are its implications for the patient?

Who is the ideal candidate for testing in the family?

  • Would testing of another family member be more informative for the patient and other at-risk relatives?

What is the clinical utility of genetic testing for the patient?

  • Will the result change the patient’s risk assessment, risk management options or health behaviour?

What is the patient's experience with cancer and genetic testing? 

  • How do the patient’s experiences influence their perception of risks, testing and results?

What are the psychosocial factors to consider? 

  • Genetic testing can have a wide range of non-medical implications, including emotional, financial and reproductive.

Is this the appropriate time for testing to be undertaken?

  • For some patients, delayed testing may be worth considering in some situations, such as during pregnancy or during cancer treatment.

Exploration of these factors helps to guide whether genetic testing is appropriate for the patient and if so, which is the best test to be undertaken. 


For some patients, the outcome of genetic counselling is that genetic testing does not go ahead – they may be reassured that their cancer risks are equal to those of the general population, or they may not change their health behaviour regardless of the result. 

Others will decide to undergo testing to clarify their cancer risks, and those of other family members. 

Understanding The Limitations and Implications of Genetic Tests 


Given the ever-increasing array of genetic tests that are available, choosing the most appropriate test for the patient is critical, as is helping the patient to understand the benefits, limitations and implications of their results.

Testing may be requested for a small number of genes that have a lot of data and experience behind them, such as the BRCA1 and BRCA2 genes that are associated with HBOC. 

If a gene fault is identified, then a wealth of information and options are available to help the patient maximise the benefits of knowing their genetic status. 

In contrast, technological advances have recently enabled the cost-effective testing of numerous genes that are associated with hereditary cancers. For many genes included in these larger gene panels, clinically useful information is currently limited. 

Therefore, if testing identifies a fault in one of these genes, the patient may be left in the position of knowing that they carry a gene fault, but not knowing what the associated risks are, or how to manage them; in turn, the patient’s family members may find themselves in the same position. 

For some patients, this uncertainty can raise anxiety and the question of whether testing should have been undertaken in the first place; for others, the uncertainty is well-tolerated and viewed as information that may be of use in the future – one size does not fit all.

The Gene Variant of Uncertain Significance (VUS) 


Testing of more genes also increases the likelihood of identifying a gene variant of uncertain significance (VUS). 

Most genetic variation between individuals is benign, and does not cause any health problems; rarely, genetic variation stops the gene from functioning and this may be associated with disease – cancer in the case of cancer predisposition genes. 

When a VUS is identified, the result cannot be interpreted as insufficient information is available to know whether the variant is benign or associated with disease. 

A VUS can be a source of confusion, anxiety and frustration for the patient and their family members, and requires careful management. 

Some genetic testing and results should be considered as dynamic, and likely to change with time and additional information. 

Bigger is Not Always Better 


While the availability of large gene panels is a promising advance for cancer genetic counselling, bigger is not always better.

Much has changed in the field of hereditary cancer in recent years – knowledge has increased, technology has improved and awareness has broadened. 

This upward trajectory is expected to continue into the foreseeable future, bringing with it both increased options and increased complexities. 

Many patients arrive at the cancer genetic clinic saying, “I just want to have the gene test for cancer”, and leave with a much better understanding of the various testing options and their implications, having made an informed decision about the best way forward for them. 

Cancer genetics is usually not just a matter of having a test, and for now, genetic counselling plays an essential role in helping patients to navigate their way through evolving genetic territory. 



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IMPORTANT: The information on this blog is for informational purposes only and not intended to be a substitute for professional medical advice, diagnosis or treatment in any manner. Always seek the advice of your doctor or other qualified health provider with any questions you may have concerning your health or anything related to it. 

Wednesday, 15 March 2017

Having Your Baby Sleep in a Box May Be a Good Idea


Is it better for your baby to sleep in a humble box instead of a cot?


Yes, you have read correctly – really, a box, just about big enough to fit your baby in.

In a recent news report on Channel 7 Perth, hospitals in the United States are using ‘baby boxes’ for babies to sleep in and some health officials claim that they are better than cots for preventing infant deaths.


The 'Baby Box' Debate


WOMEN Centre’s obstetrician and gynaecologist, Dr Fred Busch, shares his thoughts on the ‘baby box’ debate and Sudden Infant Death Syndrome (SIDS):

There is a significant correlation between babies' sleeping positions and the incidence of SIDS with the association being greater with babies sleeping in the prone and non-supine positions.

Therefore, it would make sense to restrict the chances of the baby to be able to roll on its side or tummy, which is what the 'baby box' probably does making it a good idea to have a baby sleeps in a box. 

In addition, it is understood that the 'baby box' has a firm mattress, which is another advantage as the other risk factor for SIDS is babies that sleep on soft mattresses or surfaces.

There are also additional factors that need to be emphasized including not cluttering the baby’s sleep space with soft toys and other items. 

Though Dr Busch has not personally reviewed the data, reduction in maternal smoking and the risks associated with prematurity may have contributed to the dramatic reduction in SIDS in Australia over the last decades.

The cost of the basic 'baby box' starts from below $100, which is a reasonably modest price and certainly cheaper than cots/bassinets.

How to Reduce Sudden Infant Death Syndrome (SIDS)


While the 'baby box' is a reasonable idea, the focus should be on awareness of all the factors that may help to reduce the incidence of SIDS:

●  Encourage smoking mums to reduce/quit smoking
●  Sleep baby in supine position
●  Firm mattress
●  Avoid loose bedding accessories in baby's cot/bassinet/'box'
●  Avoid bed sharing with baby

There is also some evidence that the use of a pacifier during sleep reduces the risk and keeping baby's immunisations up to date may also lower the risk.

Channel 7 Perth’s news report on 'baby box' here.




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IMPORTANT: The information on this blog is for informational purposes only and not intended to be a substitute for professional medical advice, diagnosis or treatment in any manner. Always seek the advice of your doctor or other qualified health provider with any questions you may have concerning your health or your baby's or anything related to it. 

Friday, 3 March 2017

Ovarian Cancer - It's Not a Death Sentence!

Part 1 of 2 by Dr Jason Tan, Gynaecologic Oncologist



Ovarian cancer has gained the notorious reputation of being a death sentence. For many women, it is like a death knell when they are diagnosed with ovarian cancer as it leads to more deaths than any other cancer of the female reproductive system.

The rate of occurrence (incidence) of the female reproductive system’s cancer (gynaecological cancer) and its 5-year survival rate in Australia:


The data show that out of 100,000 women, it is estimated that about 10 are diagnosed with ovarian cancer in 2016. The number of women diagnosed with ovarian cancer still living after 5 years from 2007 to 2011: about 4 out of 10.

Cancer Australia estimated that in 2017, the number of Australian women diagnosed with ovarian cancer would be 1,580 and the number of Australian women dying from ovarian cancer would be 1,047. This is equivalent to:

4 Australian women are diagnosed with ovarian cancer every day.

Australian women die from ovarian cancer every day.


Ovarian cancer is the second most common gynaecological cancer after cancer of the uterus (uterine cancer). Compared to other gynaecological cancer, the statistic in terms of survival for women diagnosed with ovarian cancer is not optimistic. 

The main reason is that most women, up to 75% of them, are already at the late stage of the cancer (Stage IIIC) when diagnosed where the cancer is in one or both ovaries or fallopian tubes, and it may have spread to the nearby organs as well.

Who Are at Risk?


Women who are at risk may include those who:

●  Never have had children
●  Have period at an early age or reach menopause at    
    an older age
●  Have a family history of breast cancer or ovarian 
    cancer
●  Have Ashkenazi Jewish descent 
●  Have inherited gene BRCA 1 or BRCA2 mutation

It is estimated that up to 25% of ovarian cancer may be attributed to the inherited gene BRCA1 or BRCA2 mutation; therefore, offering genetic counselling and testing to all affected patients is important. 

The recent announcement in early 2017 of a new government funding that allows Australian women to claim a Medicare rebate for a genetic test to see if they have a BRCA mutation is recognition of genetic testing for its important role in the screening for ovarian cancer.


First degree relatives of patients with ovarian cancer who are not tested genetically have a four-fold risk of developing ovarian cancer. 


As we gain further knowledge, more genetic mutations apart from BRCA1 and BRCA2 are identified, and these comprise a 'panel testing'.


Panel testing examines a number of different genes simultaneously to search for potentially cancer-causing mutations.

Catching Ovarian Cancer Early


It is often touted that screening is the best way to catch any disease early; however, in the case of ovarian cancer, there is no evidence at present to support that screening can help in prevention or the reduction of death – regular ultrasound scans and CA125 tests do not work.

This is compounded by the fact that the symptoms of ovarian cancer are often vague and most women do not realise something is wrong until it is too late. 

Screening; however, may be advisable for women who are considered to be at high risk such as those with a strong family history, who are carriers of gene BRCA1 or BRCA2 mutation and Ashkenazi Jewish women. 


A thorough family medical history assessment is needed to determine the specific risks and in some cases ‘risk reduction’ preventative surgeries may be advised by your doctor.  


These include patients with a demonstrated genetic mutation and those with a first degree relative with ovarian cancer, or a strong family history of breast and ovarian cancer.
This is the case of filmmaker, actress and special envoy of the United Nations High Commissioner for Refugees, Angelina Jolie. 

Angelina Jolie sees health choices as part of life and not to be feared. 


She is a BRCA1 gene mutation carrier and opted for preventive surgeries. 

She removed both her breasts in 2013 and ovaries and fallopian tubes in 2015. She was 39 years old when she underwent the surgery in 2015. 


Resumption of a normal quality of life after such surgeries is possible with a multidisciplinary approach by medical and allied health specialists that include your gynaecologic oncologist, menopause specialist, sexologist and counsellor, psychologist and physiotherapist. 

Symptoms


Most women will experience some symptoms; however, most are vague that can include:

●  Abdominal or pelvic pain
●  Change in bowel habit
●  Urinary frequency or incontinence
●  Indigestion
●  Unexplained weight gain or loss
●  Fatigue
●  Reduced appetite
●  Abdominal bloating and ‘fullness’ 
●  Pressure in the abdominal and pelvic areas

Investigation, Tests and Diagnosis




Ovarian cancer is not a death sentence!


If it is diagnosed accurately and treated without delay, there are very effective treatments against ovarian cancer.  

A thorough investigation is required to accurately diagnose the condition and determine the best treatment options for the patient.

This involves a combination of:

●  Physical examination
●  Ultrasound scan
●  CT scan
●  Blood tests such as CA125, etc.
●  Family and medical history assessment

The investigation is especially important for women with symptoms that persist for more than a month, and if they are over 40 years old or have a family history for ovarian and breast cancer.

Based on the data available, when Australia is compared to other developed nations, its 5-year survival rate is considered among the best.

Women diagnosed with ovarian cancer still living after 5 years is the highest in Western Australia compared to other states and is among the best in the world.


Referral


If a patient has suspected ovarian cancer, she should be referred to a sub-specialist gynaecologic oncologist. 


In Australia, a gynaecologic oncologist is certified by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) to practise in the highly specialised field of gynaecological oncology/cancer. 


Typically, a gynaecologic oncologist goes through an additional three or more years of sub-specialisation training on top of the five to six years of training in the medical specialty of obstetrics and gynaecology.


In Western Australia, the gynaecologic oncology/cancer medical service is available in the public hospital, namely, the King Edward Memorial Hospital and various private medical hospitals and centres. 


In part 2, we will talk about the treatment and management of ovarian cancer, the likely outcome of the treatment and management based on various factors, the latest exciting developments in pharmaceutical and molecular diagnostics, and awareness as prevention.

Sources: American Cancer Society   Anuradha, S., Webb, P. M., Blomfield, P., Brand, A. H., Friedlander, M., Leung, Y. et al. (2014). Survival of Australian Women with Invasive Epithelial Ovarian Cancer: A Population-based study. The Medical Journal of Australia, 201(5): 283-88.   Cancer Australia   Cancer.Net  Jolie Pitt, A. (2015, March 24). Diary of a Surgery. The New York Times. Retrieved from here.   National Cancer Institute   National Centre of Biotechnology Information   O’Leary, C. (2017, January 31). Ovarian Cancer Drug on PBS.  The West Australia.  Retrieved from here.   The MSD Manuals 


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IMPORTANT: The information on this blog is for informational purposes only and not intended to be a substitute for professional medical advice, diagnosis or treatment in any manner. Always seek the advice of your doctor or other qualified health provider with any questions you may have concerning your health or anything related to it.