Subscribe
×

Preference: Genetics

342

Candidate profile – Dr Janice Fletcher MBBS (Hons 1), MD, BSc, FRACP, FRCPA

Nominating for the position of AMA Vice President

My decision to nominate for Vice President came about after careful consideration about what I could offer the role, and, importantly, if I had the time to commit to the requirements of the position.

After a recent (second) knee replacement I also had to make sure I was fit to run.  I, only half jokingly, credit my orthopaedic surgeon for this decision.

Having served as President of the AMA SA I have been exposed to the rigours of such a role.

I believe strongly in the role of the AMA, recognising the issues both at Federal and State level, having worked in South Australia, New South Wales, and Victoria.  Coming from a small state, I bring geographic diversity to the executive table.

My professional background is diverse; paediatrics, genetics, pathology and medical administration.  I was proud to be the fourth female President of the AMA SA. 

As a strongly influential organisation, the AMA must be at the forefront of setting the health agenda for Australia. As experts in evidence-based medicine, we need an evidence-based approach to our profession.

We need to advocate for, and evaluate, research which will give us a true picture of the health needs of the Australian community and the workforce requirements in the next five, ten, twenty years and beyond. And we need to know who is currently being trained, and in what areas.

This will give our next generation of doctors a much better insight into where the jobs will be in the coming years.

In taking this proactive role the AMA will be re-established as the key decision maker, ensuring that the right policies are in place to steer the right course.

I have extensive experience in the public domain, with the media and have worked with all sides of politics.

I have been given a ‘sensible’ tag, which I wear proudly. This role is not about me, but more about the decisions the AMA makes. I bring to the table a considered approach, objectively looking at all sides of an issue. I know when to ‘keep my powder dry’ and when to go in, guns blazing.

Also of benefit to the AMA leadership team is my expertise in the field of genetics.  As evidenced by the 2018 Federal Budget, this area of medicine is a key driver of our future and the impact it will have across all fields of medicine is significant.  I am an Emeritus Member of the Human Genetics Society of Australasia, with professional respect across the country and internationally.

I am passionate about improving nutrition in our community, particularly in childhood. We must improve nutritional literacy for all Australians.  We must also improve genomic literacy for the community, patients and all healthcare professionals.

A focus on the future is what is driving me to nominate for Vice President. As a teacher and researcher, I continue to work with many young doctors and students. If we don’t advocate strongly for them, they will not have a profession, but a mere job.

I am not running on a ‘ticket’ as I know I can represent the interests of all States and Territories and work alongside all President nominees.

If you would like further information or to contact me, please visit my website:

https://janicefletcher0.wixsite.com/aboutjanicefletcher I would love to hear from you.

* See other candidate profiles on this site.  

 

 

[Department of Error] Department of Error

Castaigne S, Pautas C, Terré C, et al. Effect of gemtuzumab ozogamicin on survival of adult patients with de-novo acute myeloid leukaemia (ALFA-0701): a randomised, open-label, phase 3 study. Lancet 2012; 379: 1508–16—In table 1 of this Article, the Intermediate row under the Cytogenetics heading has been updated. This correction has been made to the online version as of Feb 8, 2018.

[Seminar] Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in the brain and spinal cord. This neurodegenerative syndrome shares pathobiological features with frontotemporal dementia and, indeed, many patients show features of both diseases. Many different genes and pathophysiological processes contribute to the disease, and it will be necessary to understand this heterogeneity to find effective treatments. In this Seminar, we discuss clinical and diagnostic approaches as well as scientific advances in the research fields of genetics, disease modelling, biomarkers, and therapeutic strategies.

Ground-breaking lymphoma treatment advanced with genomics research

The Christine and Bruce Wilson Centre for Lymphoma Genomics has been launched at the Peter MacCallum Cancer Centre and partnered with The University of Melbourne to deliver groundbreaking and innovative advancement for Australian lymphoma patients.

The Centre will establish a team of clinicians, pathologists and scientists dedicated to utilising lymphoma genomics to improve outcomes in patients with lymphoma and related malignancies.

The Centre will aim to provide translational clinical-grade genomic testing for patients with lymphoma and related lymphoid malignancies treated at the Victorian Comprehensive Cancer Centre (VCCC), in order to influence therapeutic choice and personalise the treatment of patients with lymphoid blood cancers.

Genomics testing involves testing a patient’s blood for critical gene mutations, enabling doctors to create a personalised, targeted treatment for individual patients.

Associate Professor David Westerman, who will lead the research project, says the advancement of genomics will eventually eliminate the need for chemotherapy in treating cancer.

“With this partnership between research, clinical, university and philanthropy, we are now able to fast-track genetic testing to more patients and monitor the effectiveness of treatments,” he said.

“Genomics and personalised medicine is what will aid targeted, less toxic cancer treatments.”

The ground-breaking project was enabled through a generous $5 million donation by Christine and Bruce Wilson, which followed Christine’s personal experience as a patient living with lymphoma for 25 years. They were struck by how genetics testing can save lives, or improve quality of life, for a group of patients who are in dire need of other treatment options.

“I have been fortunate enough to experience the benefits of this cutting-edge technology. My family hopes that our support will make the Centre’s ground-breaking work accessible to all Australians affected,” Christine Wilson said.

Blood cancers are the third leading cause of death by cancer in Australia. Each year more than 12,000 Australians are told they have blood cancer, according to the Australian Institute of Health and Welfare.

Blood cancers like lymphoma often result from spontaneous mutations that occur as the body makes new blood cells, and one reason they can be so difficult to properly diagnose and treat is because so much can go wrong.

MEREDITH HORNE

Volunteers needed to help unlock the genetics of depression

The Australian Genetics of Depression Study is the world’s largest genetic investigation into depression to date. It is surveying 200,000 people worldwide — including 20,000 Australians — in the hope of identifying the genes responsible for putting someone at risk of mental illness.

Interim data collated by the study has already revealed more than two-thirds of the participants have had to rely upon multiple antidepressants to treat their clinical depression – a trial and error approach that remains a major challenge in delivering more effective mental health care.

The interim data, published in MJA InSight in August, suggests the limit of our current knowledge of treating clinical depression has been reached, and a far more effective personalised and targeted approach is needed to optimise outcomes.

It has been just three months since the Australian Genetics of Depression Study began, and 10,000 Australians have already enrolled.

Research author, study co-investigator and co-director for Health and Policy, Brain and Mind Centre at the University of Sydney, Professor Ian Hickie, has now put out the call for the enrolment of another 10,000 adults into the ground breaking Australian Genetics of Depression Study.

One in seven Australians will experience clinical depression during their lifetime. The mental illness represents the top cause of non-fatal disability in Australia. Moreover, Australia has one of the highest antidepressant prescribing rates per head of all OECD countries – behaviour that delivers considerable benefits, but also forces many people to contend with ongoing, disabling and potentially life-threatening medication-related side-effects.

Professor Hickie said the interim data has revealed that a better targeting of existing treatments through individual genetic profiling before commencing medication would drive a major advance in clinical therapy.

“Given our lack of diagnostic methods to predict different responses to antidepressants, or forecast the potential for intolerable side-effects, we are exposing those battling clinical depression, to trial and error, which is often slow to deliver significant benefits,” he said.

The researchers also believe the interim data illustrates treatment has failed to move effectively from the general principles of treating clinical depression to much more personalised and targeted approaches that minimise risk to maximise benefit.

Participating in the Australian Genetics of Depression Study is simple and free. Volunteers complete a 15-minute online survey and, depending upon their responses, may be asked to donate a saliva sample. Study researchers will then analyse the saliva (DNA) samples to investigate and pinpoint specific genes that may be associated with clinical depression.

The Australian Genetics of Depression Study is being conducted internationally, with 200,000 participant samples required. Australia is aiming to contribute 10 per cent of the total study population.

To volunteer for the Australian Genetics of Depression Study, or to learn more head to: www.geneticsofdepression.org.au

MEREDITH HORNE

[Obituary] John Walley Littlefield

Physician-scientist, geneticist, and cell culture expert who championed clinical genetics and amniocentesis. Born in Providence, RI, USA, on Dec 3, 1925, he died on April 20, 2017, in Cockeysville, MD, USA, from complications of dementia, aged 91 years.

[Perspectives] Fowzan Alkuraya: leading light in Saudi Human Genome Program

Fowzan Alkuraya occupies a unique position in Saudi Arabia’s scientific community. As Principal Clinical Scientist of the Developmental Genetics Unit at the King Faisal Specialist Hospital and Research Centre, and as Professor of Human Genetics at the College of Medicine, Alfaisal University, both in Riyadh, his laboratory is focused on understanding genetic disorders specific to the Saudi population, where consanguinity and resultant inherited genetic disorders represent a major public health problem.

If you were destined for dementia, but there was nothing you could do about it, would you want to know?

 

The launch in Australia of a genomic testing service aimed at healthy people heralds a new era of individual patient care. A scan of your genome, which is the complete set of your genes, to find out if you are at risk of particular diseases, can mean you can then go on to take preventive measures against them.

The CEO of the Garvan Institute’s Genome.One lab, which is offering the testing, said it would transform the health system, making it more focused on prevention than treatment of disease.

Genomic testing can have tremendous benefits, as in the case of diagnosing children with rare diseases. When applied to the right patients, genomic testing can provide a diagnosis for more than half of patients with unusual symptoms. And the cost of this to the health system is much lower than for traditional diagnostic tests.

Certainly that all sounds like a good thing, but genomic testing is not yet the precision diagnostic and treatment tool we hope it will one day be. And all genetic knowledge is not necessarily helpful. As with any medical intervention, genomic testing carries risks as well as benefits.

Genomic testing scans all your 23,000 genes at once.
from shutterstock.com

Why genomic testing?

Genomic testing takes advantage of recent advances in our knowledge of genetic causes of disease, as well as technology. It’s a test of all 23,000 genes in the body at once.

The success of genomic testing in diagnosing rare disorders has raised the question of whether these tests should be performed in healthy people before they become sick. The potential benefits of testing healthy people are obvious, especially when it comes to conditions that have a proven treatment or prevention.

Cancer is a good example of where genomic testing can save lives. A person found to carry a genetic predisposition to bowel cancer can choose to have regular colonoscopies, which can detect and remove pre-cancerous growths before they cause harm.

And because genetic disorders run in families, potential health benefits can extend to other family members who may have the same genetic predisposition.

The ultimate goal of genomic testing, as part of personalised medicine, is that it will be available to everyone, allowing each person’s health care to be tailored to their individual genetic make-up. In the future, this “lifetime health resource” promises to improve health care from conception to death.

Further reading: How cancer doctors use personalised medicine to target variations unique to each tumour

Are we ready for this?

A considerable challenge of genomic testing is the extraordinary complexity of each person’s genome. To try to interpret a single human genome is to grapple with literally millions of genetic variants, or points where the person’s genetic code differs from the average person’s.

Perhaps a handful of these variants will cause disease, but the rest will most likely be harmless. Determining which is which is far from straightforward.

Another problem is that even when specific genetic variants are judged to be harmful, the benefits of knowing this information are not always as clear cut as in the case of bowel cancer. It is an unfortunate reality that most disorders detectable by genomic testing have no proven treatment or means of prevention.

For instance, particular gene variants may put you at risk of developing dementia in your 60s. But if there was nothing you could do to prevent it, would you want to know?

Further reading: Genetic testing isn’t a crystal ball for your health

Even when treatments are available, the benefits of knowing you have a certain genetic predisposition may not outweigh the disadvantages.

Consider that genomic testing finds you carry a predisposition to sudden heart death, such as Long QT syndrome. This is an outcome you would certainly wish to avoid. But what if knowing this information caused you to worry more, and the treatment required you to give up sport and take a medication that caused you to feel lethargic every day?

And what if, in the absence of symptoms, your risk of actually dying was only slightly increased compared to the general population? Would you still want to know this information, or perhaps prefer to remain ignorant?

Should we get the test?

The Genome.One clinic at the Garvan Institute in Sydney has addressed some of these concerns by taking a cautious approach.

Genetic counselling is provided before and after testing, and although the whole genome is sequenced, analysis and reporting is limited to just 1% of all genes. Most of these selected genes are associated with heart conditions and cancers, and have been chosen because these diseases are well understood, with treatment strategies available.

Genes that cause untreatable diseases, such as dementia, have deliberately been excluded from analysis. This strategy minimises the risk of harm that may come from the test, but the trade-off is that the likelihood of actually finding something useful is greatly diminished. In fact, Genome.One reportedly estimates only 5-10% of people tested will receive an abnormal result; that is, one that will show them to be at risk of disease.

The ConversationWhile it is hard to argue against a test that just might save your life, currently there is insufficient evidence that the benefits of genomic testing outweigh the risks. Even for those who can afford the price tag of A$6,400, there are probably more effective targets for our health-related spending. Like many years of gym membership, for example.

David Amor, Lorenzo and Pamela Galli Chair in Developmental Medicine, Murdoch Childrens Research Institute

This article was originally published on The Conversation. Read the original article.

[Comment] Medical genetics in Israel’s diverse population

Medical genetics in Israel reflects its ethnically diverse population. The Israeli population of 8·46 million is comprised of 75% Jews and 21% Arabs, including 4% Bedouins (a historically nomadic group).1 Israeli Arabs are largely Muslim (83%), with Christian Arab (9%) and Druze (8%) minorities.1 The genetic landscape of these different ethnic groups has been shaped by their history and cultural practices. Israeli Jews, who are mainly urban, can usually trace their ancestry to specific Jewish communities, broadly classified as Ashkenazi (European) and Mizrahi or non-Ashkenazi (according to country of origin).