A Science Without Lab Coats

By: Clifford Mak

Science that is about people, it sounds like a contradiction but it isn’t. Lose the lab coat and welcome to the science of genetic counselling. Rachel Williams is a genetic counsellor at St. Vincent’s Hospital, Sydney. However, she has not always worked in this field. Previously employed as an industrial chemist, it is hard to imagine Rachel as anything but a genetic counsellor. Her compassionate personality, interest in patient care and science made Rachel perfect for the job. To become more involved with the patient care aspects of science, she undertook volunteer work at Lifeline (a counselling agency) and then a postgraduate diploma in genetic counselling and is now helping people affected by cancer.

Cancer is a terrifying word to most people, but Rachel deals with it calmly day after day. The most common forms of cancer that Rachel is involved with are breast and bowel cancer. An important aspect of patient care is respecting their privacy, especially when dealing with serious diseases. Due to this, following Rachel for a day was an impossible task. Instead, an overview is given of what her job entails. The people that see her are those worried about developing or who have already developed cancer. Many of these people come to see Rachel with their own assumptions about the inheritance of cancer and part of her job is to clarify this to patients.

Her first step once she receives a patient is to research the disease and determine if there is any family history. Screening for the disease is recommended to a patient’s relatives by the clinician (usually a medical specialist) and if the disease appears to be genetically inherited, confirming the diagnosis of affected relatives and then blood testing are the next steps. Referral to a genetic counsellor usually indicates that the cancer has already been diagnosed within the patient’s family. The genetic counselor investigates the family history further to determine if there is a greater probability of the disease being genetically transmitted. For example, if a patient develops a disease at a much younger age then it is expected there may be a higher risk of the disease being genetically inherited.

However, determining if a disease is genetically inherited is not such an easy process. Rachel’s job is much more complicated. Often other information about the disease and family history is known, which will help Rachel when assessing patients. The more information that Rachel receives from the patient’s family, the better her knowledge will be of the disease and how it works. Once this is completed, the information is used by Rachel to build a risk assessment. Other tests can also be run to determine if genetic testing is necessary. Together with the clinican, she must decide if it is appropriate for genetic testing to be carried out. While genetic testing often appears to be a logical step, it is a costly process and there must be a strong basis for such tests. Before having a genetic test, Rachel discusses with the patient the possible implications of the results to prepare the patient for these results. Once genetic testing identifies a genetic change in a relative who has had cancer, all other biological relatives can then have a genetic test to see whether or not they are at an increased risk of the inherited cancer condition in their family. To do this, they see Rachel to discuss the possible implications of how their test result may affect them. Rachel will also discuss with the patient how they might share this important information with their family. The follow-up of patients continues for many years.

However Rachel’s job does not end there. Genetic counselling is a long term process, with genetic testing taking months or even years to complete. The technology used, and the continual discovery of new genes play a large role in the speed and accuracy of genetic testing. While the process may appear to be long, it is worth it if in the end reliable information can be determined to help the patient and their family. Results are given to the patients, with Rachel explaining all the tests that were undertaken, why they were performed and how this may affect them. It is here that the diversity of Rachel’s job can be seen. On the one hand, she must understand the science of the diseases but at the same time, she must also be able to communicate her knowledge to patients effectively. Thus, in this aspect of genetic counselling Rachel acts as a translator. She takes the lab results and presents the information to the patients in an easy-to-understand manner.

Genetic counselling is a wide field and this allows Rachel to also participate in research. As her job mainly involves communication with patients, she participates in research by providing information about her patient (confidentially of course) to research scientists. She is involved in all types of genetic research. However, due to the association of her department, she is mostly involved with cancer research.

Dealing with patients is not everything that Rachel does. Once a month she attends group meetings with other Family Cancer Clinics located around New South Wales. Rachel does this for a number of reasons. Firstly, the meetings allow her to be aware of the discoveries of new genes, diseases and technologies. Case analyses are also presented, highlighting situations where the disease has been rare or hard to diagnose. This allows Rachel to provide better information and services to her patients. Sometimes Rachel participates in discussions with the staff within her department about any special cases seen recently. Occasionally, she also guest lectures at the University of New South Wales, and recently has been involved in the ‘Jeans for Genes Day’ campaign which aims to increase public awareness about genetic research.

The enthusiasm that Rachel portrays is uplifting. She enjoys everything about genetic counselling, from the patient care aspects, to the challenges and achievements that come along with genetic counselling. Perhaps the aspect of her job she enjoys most is the countless new discoveries being made in genetic research that allow her to provide better care and information to her patients. In her own words, “genetics will never be boring.” It is the dedication of Rachel Williams and the countless other brilliant minds to science and patients that make the scientific community great.