NUMBER 11 • 6 JUNE 2011

MJA Careers THE MEDICAL JOURNAL OF AUSTRALIA

Careers in genetic pathology GENETIC pathology is a new and growing discipline which involves diagnosing genetic diseases, primarily by overseeing the testing of patient samples for mutations in DNA or RNA. “These can be germline mutations involved in single-gene disorders, or somatic mutations involved in cancer”, says Dr James Harraway, a Brisbane-based genetic pathologist. It’s a field that’s on the cutting edge of medicine as scientists continue to identify genetic mutations that underlie disease processes. “As our understanding of the genetic basis of cancer and polygenic disorders such as diabetes and heart disease increases, there will be a growing role for genetic testing”, says Dr Harraway. The field is changing quickly as new technologies mean that large amounts of genetic information are available at a lower cost. Dr Graeme Suthers, a genetic pathologist and spokesman for the Royal College of Pathologists of Australasia (RCPA), says the key attribute needed by potential genetic pathologists is the ability to adapt to this fast pace of change. “Our capacity for DNA sequencing is doubling every 6 months while the cost per gene is falling rapidly, and there’s no suggestion that the rate of progress will slow”, he says.

“The ideal person needs a good understanding of medicine and a willingness to be learning and learning and learning. You forever feel that you’re in kindergarten with this game because it is changing so rapidly”, he says. Dr Suthers says the profession also needs doctors who can advocate for the role of genetic pathology in Australia’s health care system, to create new jobs for genetic pathologists. “We need people who are, dare I say it, good at the politics. Like every country in

the world, we’re struggling to control the costs of health care. The genetic revolution is here and it has the potential to make health care better, and cheaper.” Genetic pathology is currently a very small specialty, with only about 17 genetic pathologists working in Australia, according to the RCPA. However, all new graduates are thought to have secured employment, mainly in the public sector in metropolitan regions. Dr Harraway says he was attracted to the profession because he enjoyed laboratory work, but wanted to do something with a direct impact on patients rather than working solely in a research capacity. Although the role is laboratory based, it involves close collaboration with clinicians to ensure that patients obtain maximum benefit from genetic tests. “As genetic tests can be quite complex, a lot of my day involves discussions with clinicians about tests. We discuss things such as how the test can help with the clinical question, the pros and cons of the test, the most appropriate test to perform, and interpreting test results”, says Dr Harraway. Genetic pathologists also liaise regularly with medical laboratory scientists and other pathologists. As such, genetic pathologists need good teamwork and communication skills, including strong writing ability to assist with reporting test continued on page C3

In this issue C1

Careers in genetic pathology

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Dr Melody Caramins: Genetic pathologist

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Money and Practice: Keeping it in the family

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Locums Remote Health Specialist Appointments Overseas Appointments CME, Real Estate, Services

Editor: Sophie McNamara • [email protected] • (02) 9562 6666 MJA Careers 6 June.indd 1

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MJA Careers

www.mjacareers.com.au • Number 11 • 6 June 2011

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MJA Careers

www.mjacareers.com.au • Number 11 • 6 June 2011

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results. “Reports need to be clear and easily understandable while containing technical details, which can be quite challenging”, says Dr Harraway. He says although the pace of technological change can be challenging, it is rewarding when it means better outcomes for patients. “One thing that I personally get a lot of satisfaction from is introducing a new test into clinical practice, and seeing it become part of standard patient care”. The use of targeted therapies are also an area of satisfaction for Dr Harraway. “Targeted therapies are being developed for a variety of cancers and there is often a need for genetic tests to determine whether those therapies will be helpful. I find it rewarding to be able to help ensure the most effective treatment for patients.” There are also substantial opportunities for research work within genetic pathology, with registrars encouraged to undertake some research while training. Research could focus on topics such as the mutations that underlie

There is no on-call work, and there is often scope for part-time work, depending on the laboratory. The profession is also fairly evenly split between male and female pathologists.

Training

cancer, the causes of single-gene disorders, gene therapy or the basis of “complex” polygenic disorders. “As genetics is often on the cutting edge of technology, there is a big potential role for translational research, bringing new innovations, such as next generation sequencing, into clinical practice”, says Dr Harraway. Genetic pathologists are often able to achieve a successful work–life balance.

The Royal College of Pathologists of Australasia runs a 5-year training program in genetic pathology. In the first 3 years of the program, graduates learn about the uses of genetic testing in diagnosis and prognosis of various diseases, the clinical background of those diseases and how to run clinical laboratory genetic tests. The next 2 years of advanced training focuses more on management issues such as regulation, quality control and assurance, and communication skills. Graduates of the program are awarded a Fellowship of the RCPA. More information is available at: www.rcpa.edu.au ■

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MJA Careers

www.mjacareers.com.au • Number 11 • 6 June 2011

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MJA Careers Case Study: Genetic Pathologist MJA Careers profiles interesting and important jobs and the people who do them

www.mjacareers.com.au • Number 11 • 6 June 2011

Dr Melody Caramins is a genetic pathologist who is acting director of genetic pathology for South East Sydney Area Health, located at the Prince of Wales and Sydney Children’s hospitals in Sydney. After completing her medical degree in 1992 at the University of Newcastle, she began working as a surgical registrar before switching to genetic pathology training through the Royal College of Pathologists of Australasia. She recently completed a PhD on the genes involved in baseline platelet count regulation.

It’s like detective work when you’re looking for a mutation that “I had quite a roundabout way of getting to genetic you think may be in a certain place. It’s the equivalent of trying pathology. After finishing my medical degree, I worked as a to find a spelling mistake in an encyclopaedia. It requires some clinician in various guises for 10 years. I was actually planning ingenuity and awareness of the best testing methodology based on to become a surgeon, and worked as a surgical registrar for the request, and transforming that into a report that’s useful for a a few years before deciding it was not where my long-term clinician. interests lay. It was a difficult decision to make and I took some time out, working part time, while I Often, people want to know about genetic thought about what I was good at and what I predispositions, even if there’s no treatment It really is discovering really wanted to do. Leaving surgery broke my option. For instance, in children with new things, all the time heart in some ways, because I really loved being developmental delay, there’s often a lot of guilt at the clinical interface and seeing patients. involved, with parents wondering whether they did something wrong during the pregnancy. Sometimes they Genetic pathology is a new field, dynamic and changing. discover that there’s a genetic reason for the delay which is not Unlike other medical specialties that are very well established, their fault — then that is a big relief. Especially if it means that the there are still a lot of unknowns. The specialty appealed recurrence risk for the mutation in future children is low. because I thought it presented an intellectual challenge, and an opportunity for stimulation and learning, that could I find the prenatal work particularly rewarding. It suits me potentially last an entire career. because it’s very high-pressure, with fast turnaround times, and it has significant implications. The specialty is also particularly When I was training, I felt quite isolated because it was interesting when you get results that conflict with the clinical such a small specialty. I was the only trainee in the country picture, or which provide unexpected information. That happens for a while, so that was challenging, as I’m a reasonably not infrequently. sociable person. But you get used to it, and I became more independent. By the end of my training there were other Do I miss patient contact? Yes and no. Now I feel that I have the trainees, and the field has grown so it’s not as much of a ability to help a lot more people than before. So while there are problem for trainees these days. It was also very rewarding parts of it that I miss, such as helping people face to face, I feel that to actually witness the growth in interest in the field, as the rewards outweigh those aspects. evidenced by the number of trainees, in such a short time. There aren’t too many misconceptions about genetic pathology, because a lot of people haven’t even heard of the field! But once I explain that I help diagnose genetic diseases like cystic fibrosis and Down syndrome, or make molecular diagnoses of leukaemia, most people know what I’m talking about. A typical day might involve consulting with clinical colleagues, teaching and organising professional matters. I also analyse data, ensure quality standards are met, and correlate the results with clinical information to write up reports. There’s a lot of teamwork involved, which is great. Often clinicians will read about new gene mutations associated with diseases and ask us to set up relevant tests. Part of our job is to assess whether that’s possible, and clinically useful.

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The rate of progress in genetic pathology is really exciting. It really is discovering new things, all the time. Technology plays a huge role, from projects such as sequencing the human genome to the 1000 Genomes project. It comes back to that paradigm of medicine that I was taught at university: that things are always changing, that you will be constantly learning new things. Well, nowhere is that more true than in this discipline. If you want to work in an environment where your limits are very much known, where there’s a lot of stability and routine, then this is not for you. It’s tantalising that, in the future, much like we can easily order a full blood count for a patient now, we may be able to create a full genome sequence for a patient. But what we will do with that, or whether we should be doing that, is being debated.” As told to Sophie McNamara

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www.mjacareers.com.au • Number 11 • 6 June 2011

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MJA Careers

Money and Practice

www.mjacareers.com.au • Number 11 • 6 June 2011

MJA Careers looks at issues that affect the bottom line

Keeping it in the family

estate planning, “which is all about MEDICAL practitioners should consider ensuring the right people receive the their families when making financial right amounts of money or assets”, decisions — but careful planning is to optimise benefits and legitimately essential to ensure money and assets are minimise tax. distributed fairly and within tax rules. Melbourne-based solicitor and “While I wouldn’t go as far as inviting financial advisor Terry McMaster says Aunty Irene into my family super fund, identifying ways that family members we encourage most clients to involve — children, parents and others — can be immediate family (children and parents) in financial decision making”, says Darren Jones, a SydneySuperannuation, as part of a trust, based financial planner and is also a good way to distribute member of the Financial Planning Association. income to family members Mr Jones, of Align Financial, which works with medical integrated into a doctor’s financial plan specialists, says there are several ways can create significant long-term wealth that doctors can structure their finances benefits. to include family, such as using family Mr McMaster, of McMasters’ trusts, estate planning with testamentary Accountants, Solicitors and Financial trusts, tax-deductible superannuation Planning, which specialises in advising and employment opportunities. doctors, says a useful strategy is to Chris Waples, managing partner of distribute income and capital gains to Bartons Financial Services in Adelaide, family members through discretionary says involving family in financial trusts, such as an investment trust, a planning comes under the heading of

service trust or a practice trust. If family members are on a lower marginal tax rate than the doctor, the end result is less tax overall. A discretionary trust, also known as a family trust, is created to distribute income to nominated beneficiaries, usually family members. Funds can be distributed by the trustee, usually the doctor, at any time. Most people set up discretionary trusts for asset protection and estate planning, and to distribute income. However, in last month’s federal Budget, the tax-free threshold for children as beneficiaries of a discretionary trust was reduced from $3333 to $416. This takes effect from 1 July this year. Mr Waples says despite this ruling, families with different marginal tax rates can still benefit from trusts to distribute income in the most tax-effective way. Superannuation as part of a trust is also a good way to distribute income to family members. Mr Jones says that, depending on the trust structure, it may be possible to make superannuation contributions above the minimum 9% on behalf of family members employed in the trust. “An example is where a spouse performs admin duties for the trust and receives a salary of $25 000. It may be possible to pay [an additional] $25 000 into the spouse’s superannuation fund to boost retirement savings and reduce the trust’s taxable income”, he says. Mr McMaster says employing parents in the practice on an arms-length salary — that is, at commercial pay rates — is another strategy that allows a doctor to distribute income to family. However, superannuation payments are not restricted to a market limit. “The doctor, as employer, can pay large, deductible superannuation contributions for the parent–employee of continued on page C9

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