Genetics Intro | Forecasting Cancer | SARS Equation | The Building Blocks of Life | X-Mice

The Building Blocks of Life
By Kristen Symonds

___At 7:30am on the 15th April, Dr Anne Turner and the Medical Genetics team at the Sydney Childrens’ Hospital (SCH) arrived at the outpatients' ward to conduct the hospital’s monthly craniofacial clinic. Here, families of children with craniofacial disorders (disorders concerning the face and skull) can meet with doctors and counsellors.

___Dr Anne Turner is the director of the Medical Genetics team at SCH. I met with her after the clinic to discuss a typical day in Medical Genetics. I asked Dr Turner what her favourite part of the day is, and she claimed, like many of us, her favourite part of the day is lunch. Unlike some of us, however, her reasons are purely pragmatic. Dr Turner has fifteen members of staff. Lunch time gives the whole team a chance to discuss their work.

___While Dr Turner completed some paperwork, I met several members of her team. Medical Genetics is by no means a job for 'white coats' only. New patients are initially referred to counsellors for assessment. Counsellors provide emotional support to the families affected by genetic disorders and use their understanding of the disorders to convey information to family members in layman terms. Counsellors gather family medical histories, refer families to clinicians, and accompany clinicians on patient assessments.

___I was able to listen while one of the counsellors, Carolyn, spoke to a mother of two autistic children. It was eye-opening to see and hear the personal side of genetic disorders. Carolyn tells me that she enjoys her job. She finds Genetics interesting and particularly relishes the opportunity to help patients with new and rare disorders. While counsellors are not usually able to fix the problems they come across, they can help families deal with the difficult circumstances of these diseases.

___I spoke to the Senior Counsellor on the team, Robyn. In her original work as a nurse, Robyn encountered many cases of genetic disease, particularly in infants. She always wanted to help families accept and overcome the difficulties of these conditions. About 15 years ago, the hospital advertised for the position that she now holds. She was the second genetic counsellor to work in New South Wales. The hospital was not exactly sure what they wanted in a counsellor, so Robyn was able to mould the position according to what she thought it should be. There are now approximately 50 genetic counsellors throughout NSW.

___Robyn’s specialty is muscular disorders. She attends neuromuscular clinics as well as a hearing support service. Currently, Robyn’s primary task is to sift through files from the last 20 years of patients with Muscular Dystrophy (MD). New laboratory testing methods have made it possible to detect mutations in the MD gene with greater accuracy. Robyn is identifying patients from whom they need blood samples and tracking down those who have been tested. With these new results Robyn was able to inform a woman whose son died from MD that she is not a carrier of the gene. Knowing that she was not responsible for passing MD to her son relieved a sense of guilt felt by many parents. Robyn can explain the risk of Cardiomyopathy (a thickening of heart muscle) to women with mutations of this gene. When counselling affected women who are considering having children, she discusses their options for pre-natal testing, which can ascertain whether they are carrying a boy who will suffer from MD.

___Dr Turner chairs a committee responsible for training clinical geneticists from the Royal Australasian College of Physicians. She also lectures for the School of Women’s and Children’s Health at the University of New South Wales (UNSW). Dr Turner is the mother of two young adults and enjoys reading, watching movies, and travelling.

___An aspect of her career that Dr Turner enjoys greatly is conferences. The field of Medical Genetics is a very small and specialised one, and hence it is dispersed throughout the world. Attending conferences is an integral part of keeping up with colleagues and their work. Dr Turner particularly enjoys overseas conferences. An upcoming conference in Prague will give her and her family a welcome opportunity to visit Rome.

___Dr Turner began her medical career as a paediatrician. She spoke of her experience when first studying Medicine. Today, admission to study Medicine is a very difficult and demanding process. When she was considering studying Medicine, she was not troubled by how she would get in. She was more concerned about whether a woman could be a doctor and still have a family. When she expressed these concerns, she was told to “Just go for it”.

___And so she did.

Genetics Intro | Forecasting Cancer | SARS Equation | The Building Blocks of Life | X-Mice