Landmark WA gene hunt could save thousands of people at high-risk of cancer

TRACEBACK aims to reduce the incidence of BRCA1/2-related cancers in Australia via identifying woman with a history of ovarian cancer that missed the opportunity for testing.

About 15% of all women with the most common types of ovarian cancer in Australia carry the BRCA1/2 gene change which can be passed on to family members. Importantly, if people that have these gene changes are aware, they can choose to undertake strategies to reduce their risk of developing cancer significantly.  Certain new drugs also work more effectively in women with BRCA1/2, and therefore results also have important treatment implications for woman with ovarian cancer.

It is estimated that 12,000 women have been diagnosed with ovarian cancer in the last 15 years, but not tested. TRACEBACK, which will commence in early 2018 will test about 1500 of these patients, focusing on deceased women who missed the opportunity for testing. Patients will include those a) already enrolled on previous research studies involving genetic risk, b) referral through relatives, and c) through working with clinicians in specialist centres. 

A family member will not be told of results directly but rather asked if they wish to learn more and if so, will be guided to centres that can provide this information and guide them through the processes of being tested themselves if needed. In addition, TRACEBACK may assist woman with a personal history of ovarian cancer to access testing.

TRACEBACK will be testing for BRCA1/2 mutations and other ovarian cancer susceptibility genes including RAD51C/D, BRIP1 and mismatch repair genes, and a number of low risk genes.  Findings may relate to any of these mutations. 

Source: The West Australian: https://thewest.com.au/news/health/landmark-wa-gene-hunt-could-save-thousands-of-people-at-high-risk-of-cancer-ng-b88744572z

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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.

Are You Neglecting Your Body's Small Yet Important Group of Muscles?

There is a small group of muscles in a woman's body that are mostly neglected, some do not even know they exists, and personal fitness trainers do not take them into account when planning a fitness programme.

Yet these muscles are important to a woman, and all women should exercise them every day - it's not an overkill considering the important roles they play.  

These muscles are a woman's pelvic floor muscles.

The Pelvic Floor Muscles

The pelvic floor muscles are a small yet important group of muscles that form a sling from the front of the pubic bone to the back of the tailbone, that sit like a hammock making the floor of the pelvis.

Important Roles of the Pelvic Floor Muscles

• Support the uterus, bladder and bowel
• Prevent the urgency and leakage of urine
• Maintain control of bowel
• Prevent or reduce pelvic organ prolapse
• Support the baby during pregnancy
• Assist with the childbirth process
• Provide back support
• Strengthen the core muscles and flatten the stomach
• Improve sexual function

Pregnancy and Childbirth and the Pelvic Floor Muscles

The hormone called 'relaxin' is released throughout a woman's body during pregnancy.

This hormone softens the tissues, allows a woman's body to expand during pregnancy, and enables the pelvic floor to stretch during childbirth.

The softening of the tissues and increasing body weight during pregnancy exert additional pressure on a woman's pelvic floor.

As a result, the pelvic floor muscles have to work harder to support the pelvic organs.

During the pushing stage of childbirth or the second stage of labour, the pelvic floor muscles relax to facilitate the delivery of the baby.

It is important that a woman can contract and relax her pelvic floor muscles in order to provide good support during pregnancy and also to enable the birth of her baby.

The pelvic floor exercises can help a woman to learn how to contract and relax her pelvic floor muscles.

Research has shown that pelvic floor exercises done during and after pregnancy decrease the incidence of urinary leakage or incontinence during the postnatal period.

Pelvic Floor Exercises

Exercise 1: Long Hold

• Sit, stand, or lie with knees bent and feet supported, while relaxing the stomach, thighs and buttocks

• With eyes closed, imagine the muscles needed to stop the flow of urine or to hold in wind

• There is a feeling of a 'lift up' inside rather than a downward movement

• Now 'draw in and lift' the muscles of the front passage, vagina and back passage and hold for 3 to 5 seconds

• Continue to breathe normally while performing the exercise

• Then relax and feel the pelvic floor muscles 'let go'

• Rest for 5 to 10 seconds between each 'lift'

• Repeat this exercise 5 to 10 times until the pelvic floor muscles fatigue

• Always stop whenever the pelvic floor muscles feel tired

• Perform this exercise 3 to 4 times a day

• Setting a routine or time aside is an easy way to remember to do the exercise such as each time after going to the toilet 

Exercise 2: Quick Lift

• 'Draw in and lift' the pelvic floor muscles as explained in Exercise 1, but hold for 1 second only

• Repeat this 10 to 20 times and perform them 4 times a day

• Continue to breathe normally while performing the exercise

• Keep the stomach, thighs and buttocks relaxed

• Always stop whenever the pelvic floor muscles feel tired

Exercise 3: Functional Bracing

• 'Draw in and lift' the pelvic floor muscles before and during coughing, sneezing, lifting, pushing and carrying

When to Seek Professional Advice

Women are advised to seek professional advice if they:

• Cannot feel a definite tightening and relaxation of the pelvic floor muscles

• Cannot 'hold' the pelvic floor muscles

• Cannot coordinate breathing and pelvic floor exercises

• Do not feel confident or unsure of how to do the exercises

A continence and women health's physiotherapist can help women with pelvic floor exercises and provide pregnancy and postnatal advice.



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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. 

Pelvic Organ Prolapse: Are You at Risk?

By Dr Fred Busch, Obstetrician and Gynaecologist

The Anatomy of a Woman's Pelvic Organs
(Source: Continence Foundation of Australia)

A woman's pelvic organs consist of the womb, bladder and rectum that are held in place by connective tissues such as the ligaments and fascia which help these organs to connect to the pelvis's side walls.  

These connective tissues hold the pelvic organs inside a woman's pelvis.  

Additionally, the pelvic floor muscles hold up the pelvic organs from below.  

If these connective tissues are stretched or torn or the pelvic floor muscles are weakened, the pelvic organs could bulge or sag down into the vagina which is known as the pelvic organ prolapse. 

Dr Fred Busch, Obstetrician and Gynaecologist, shares his views about the prevalence, symptoms, causes, implications, treatment and prevention of pelvic organ prolapse.

Pelvic Organ Prolapse

Pelvic organ prolapse is a significant health issue facing Australian women and, indeed, women worldwide. 

1 in 5 Australian women will require surgery for this condition in their lifetime. 

In the USA, surgery for pelvic organ prolapse is the most common in-hospital surgical procedure in women above the age of 70. 

The need and cost of surgery for this condition is likely to expand over time as our population ages.

Symptoms

The principal symptoms:

• The awareness of a vaginal bulge or pressure which is typically less intense in the mornings after remaining lying down for a night’s sleep, or after lying down for a rest

• The bulge or pressure typically gets worse as the day progresses due to being upright and active, and may cause discomfort

Associated symptoms may include:

• Urinary problems - incontinence and bladder “irritability"

• Bowel problems - inability to empty rectum properly

• Discomfort with penetrative intimacy

The severity of symptoms does not correlate well with the stage of prolapse and some women with what would be considered significant prolapse on examination, may have relatively minor symptoms.

Causes

The condition most notably associated with pelvic organ prolapse is childbirth.

Contributing factors for pelvic organ prolapse other than pregnancy and childbirth may include:

• Increased weight bearing including heavy manual labour, being overweight or obese

• Chronic constipation

• Chronic cough

• Hysterectomy may lead to prolapse of the upper vagina in some women

There is a significant risk of vaginal delivery over caesarean delivery which appears to have a protective benefit. 

As an example, a case-control study showed a risk of prolapse for vaginal delivery of 93% compared to a risk for caesarean delivery of 2%. 

However, this protective benefit may wane over time with one survey of women 20 years following childbirth showing an incidence of symptomatic prolapse after vaginal delivery of 14.6% and 6.2% for caesarean delivery. 

Operative vaginal delivery, in particular forceps delivery, significantly increases the risk of prolapse. 

However, pregnancy itself, irrespective of the mode of childbirth, appears to have a negative effect on the female pelvic floor. 

The mechanisms by which the damage during pregnancy and childbirth occurs are not fully understood, but research suggests a combination of factors may be involved including muscle, soft tissue, and nerve damage, as well as a genetic predisposition to producing less strong connective tissue in the pelvic floor over time. 

The number of pregnancies is also significant with the first vaginal delivery causing the most injury, with small incremental increases in risk of prolapse with each subsequent vaginal delivery.

Implications

Should women therefore choose to have their babies by caesarean delivery?  

The answer to this question should not be categorically “yes” or “no”. 

The decision as to the mode of delivery should be made by consultation between the woman and her obstetrician.

While caesarean delivery is clearly protective against prolapse, it may come at a cost, particularly with multiple caesareans. 

While elective or planned caesarean delivery has become a relatively low-risk surgical procedure, the chief concern amongst obstetricians is the risk of placenta accreta in a subsequent pregnancy. 

This is a condition where the placenta can grow into the previous caesarean scar inside the womb.  

The placenta can therefore become firmly attached to the inner wall of the uterus which may lead to massive haemorrhage at the time of delivery of the baby. 

This may lead to the requirement of hysterectomy and transfusion of large amounts of blood at the time of caesarean to control the haemorrhage.  

This is potentially life-threatening.  The risk of placenta accreta increases especially after the third caesarean delivery.

Prevention

Preventative measures may include: 

• Moderate exercise and a healthy diet to keep weight down
• Avoiding constipation through adequate fluid intake
• Adequate dietary fibre, and the use of appropriate laxatives
• Seeking medical care for chest infections in a timely manner to avoid chronic cough
• Cessation or reduction in smoking

Treatment

Treatment measures may include: 

• Pelvic floor physiotherapy
• Treatment measures for urinary and bowel dysfunction
• Vaginal pessary
• Surgery

Pelvic floor physiotherapy has been shown to be effective in clinical trials.  At least 57% of women will report benefit from this intervention.  

I recommend this as a first step for most women with prolapse since often this is all that is required to alleviate the symptoms of prolapse and provide and acceptable level of functioning.

The use of a vaginal pessary may be considered in women where physiotherapy alone has proven unsuccessful and where use of a pessary is appropriate.

Surgery should be reserved for those women in whom conservative measures have failed, or who decline conservative treatment.

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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. 

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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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.