Clinical genetics is largely outpatient based. Most of the patient contact is through clinics, and appointments are typically an hour for each patient as the amount of information to cover is extensive. A typical consult will require a thorough personal and family history, careful examination, interpretation of previous investigations by other specialists, explanation of basic concepts of genetics and explanations of testing, diagnoses and further plans.
Some services (including in WA) provide inpatient consultation when a genetic condition is suspected and testing needs to be arranged, or if a diagnosis has been made and further review with the family is required.
There are a number of different aspects of clinical genetics, and clinicians often choose a couple a key areas to focus on. Broadly, the main areas are paediatrics, general adult, obstetric/antenatal and familial cancers. Some departments, like in WA, also have specialised cardiac, renal and ophthalmic genetic clinics. In other centres they may have specialist focus in other areas, or have different departments addressing different areas of clinical genetics.
Clinical geneticists work very closely with genetic counsellors, who specialise in explaining genetics concepts, walking patients through the testing process, and helping them with the complexities of genetic results and what this can mean for their future, their family relationships, reproductive choices and their own health. Many topics and diagnoses in genetics can be truly devastating (for example, fatal childhood conditions, Huntington's disease, familial cancer syndromes among others) and having colleagues available to aid and support families with these diagnoses is invaluable.
Clinical geneticists also work closely with the diagnostic genomics laboratory, who are the clever genetic pathologists and scientists who perform and interpret the results of genetic testing. There are weekly meetings between the cflinical genetics and diagnostic genomics departments to discuss cases where results are unclear, or the results may not match with the patient's clinical features. This provides an opportunity for collaboration and a better understanding of the science of genetics.
An important and often overlooked aspect of clinical genetics, is that there are no emergencies. There are no middle-of-the-night phone calls. Sometimes things need to happen quickly (such as arranging testing or giving results in the antenatal context), but this is typically hours to days rather than minutes.
That probably depends on where your interests lie.
Clinical genetics would suit someone who enjoys having time to think about a clinical presentation, and consider both the more common and the incredibly rare differential diagnoses. A person who likes to find an answer that makes all the pieces of the puzzle fit together, but please understand this is not always the case. Pattern recognition is also important to identify the sometimes subtle physical presentations of certain conditions. It is also important to have empathy, to listen to a family's concerns, and be able to explain the complex concepts of genetics and the ethical issues and ambiguities that come with genetic testing in its current form. It also suits people who like fixed hours and are less inclined to specialties with considerable on-call demands.
This is probably not a specialty for people more attracted to acute presentations, emergency management or inpatient work. Clinical genetics is more a diagnostic service than a management service and that won't appeal to everyone.
Clinical genetics training is divided into general (largely what has been described here), cancer genetics and metabolic medicine (focussing on inborn errors of metabolism).
Clinical genetics is available through RACP to trainees from either Adult Medicine or Paediatrics who have completed their basic training. Some aspects of clinical genetics are easier for those with an adult medicine background (such as familial cancers, adult-onset neurological conditions, etc) and some are easier for paediatrics trainees (such as childhood syndromes and dysmorphology). A trainee can apply for a Fellow (Advanced Training) position and then apply to RACP to train in Clinical Genetics.
Training takes three years, with all three subdivisions requiring at least some "general genetics", which means exposure to paediatrics, adult, obstetric/antenatal and familial cancers. Those training in Metabolic Medicine will need to move interstate for at least some of their training as this program is not offered in WA. Each trainee submits 12 case reports (three in the first year, four in the second and five in the final year) as well as completing a research project in keeping with other advanced training programs through RACP.
Each trainee will also need to spend a certain amount of time (usually 1-2 weeks) in the lab to have a better understanding of the scientific process behind testing and result interpretation. For general clinical genetics this includes the molecular diagnostics lab, the biochemical lab and the cytogenetics lab. This makes it much easier to understand the tests clinicians regularly discuss in clinics, answer questions from patients and other colleagues and collaborate meaningfully with lab colleagues about specific cases.
It is possible to combine specialties and dual train. You can add clinical genetics to your practice of another specialty such as cardiology, renal medicine, oncology, immunology, general medicine or general paediatrics. Alternatively you could do dual training with genetic pathology through the Royal College of Pathologists of Australasia (RCPA).
Career prospects for clinical genetics are good. There is constant research into the role of genetics in almost all aspects of human disease. An understanding of genetic testing and result interpretation is valuable in any medical specialty. There is also an ever increasing number of people interested in their genetics, and whether genetic testing could help investigate their specific physical or medical features.
Genetics departments are relatively small at present, but the number of referrals, inquiries and testing options available is continuing to increase. Expansion of these services may be required in the future. Research positions in the field of genetics are also available. There are also an increasing number of clinical geneticists working privately, as private genetic testing options are also available if arranged through appropriately qualified clinicians.
