Rebecca Macintosh

Genetic Counsellor

• Where do you work?
  • Sydney Children’s Hospital, Randwick, NSW

• What is your role?
  • Genetic Counsellor

• Describe an average day
  • My average day consists of firstly getting through my emails (from patients, colleagues, laboratories). On any given day I might also attend a meeting (or 3!), I might also then call some patients (I spend about half my day on the telephone following up patients or calling them prior to attending an appointment) and the remainder of the time on paperwork (organising testing, collecting correspondence, chasing results)

• How has your role within the Immunology service changed over the last few years?
  • I started working with the immunology team in a multidisciplinary fashion about 7 years ago. When we first began collaborating, for patients without a clear genetic diagnosis (i.e. those who had more complex disease) genetic testing was mostly done on through research funding with a clinical outcome. Over the last several years, with the improvements in genetic technology and the lowering of costs for genetic testing, we are increasing the numbers of patients we test, and the number of diagnoses we confirm. This has changed the amount of time I spend with the immunology team, and increased my skill base in this area.

• Tell us a bit about the significance of genetic testing on how we care for our patients
  • Confirmation of an underlying genetic cause can provide an individual and family a range of outcomes, including alteration to treatment, closure of a diagnostic odyssey, explanation of a family history, reproductive confidence (the likelihood this may happen again in a future pregnancy) and access to financial and social supports.

• Where do you think science will take us from herein relation to genetic testing?
  • There is much discussion about the new era of ‘precison’ or ‘personalised’ medicine. The exact nature of what this will look like (using ones genetic makeup to target therapy) is likely to be a little while away still, but having some knowledge about an underlying genetic cause may provide some guidance about treatment. However, much more work (mouse models, RCTs, studies) need to be done before the true advent of the dawn of personalised medicine.

• Are you involved in or are you undertaking any research?  if so please tell us a bit about it
  • As another part of my genetic counselling role I do assist in facilitating some research on epilepsy genetics, mainly focussing on severe epileptic encephalopathies. I am part of a small research group at Sydney Children’s Hospital who are investigating the psychosocial impacts of having a diagnosis of genetic epilepsy and ways we can improve clinical care. It is hoped that this research will also be a paradigm for other genetic diseases.

• What do you believe is the biggest challenge facing genetic counsellors and others who work in genetics today ? 
  • The biggest challenge is the limitations of our current knowledge and the rate at which it changes. Genetics is an ever evolving subspecialty and it can be difficult to keep up to date, given the fast pace at which advances move. For example, 10 years ago we had a diagnostic rate (i.e. the number of people we were able to provide a genetic diagnosis to) of about 10%. That has increased today to about 50-60%. That does not sound very high, but given that in the previous 50 years the diagnostic rate had barely moved, that is quite dramatic. Our ability to test is robust, but ability to interpret what the test results mean is lagging behind because of the pace of the technology.

• Any words of wisdom or advice for INGID members? 
  • Get to know your genetics department! We are very friendly and very collaborative. We are used to working in a multidisciplinary fashion and welcome collaboration. It is also important to remember that genetic conditions do not just affect one person, but affect the whole family. Not just in the way that they present themselves (i.e. the management of the condition for parents or other family members) but the condition may be inherited, and therefore other family members may be at risk. I see the discussions about the implications for other family members is the role of a genetic counsellor and this means one less task for you to do – meaning you can get on with all your other busy tasks!

• Can you name a person who has had a tremendous impact on you as a leader? Maybe someone who has been a mentor to you? Why and how did this person impact your life? 
  • I would say one of my colleagues Dr Rani Sachdev. She is a clinical geneticist here at Sydney Children’s Hospital. She has provided me with both clinical and personal supervision for the last 9 years and has become a close confidant. She has provided a fantastic role model for the type of health professional I had always aspired to be (and hope I am) – a yes person, a team player, compassionate, empathetic, hardworking, and work is a passion (not just a job). It is a pleasure to work alongside her and I value her expertise and wisdom.