Developing my Preferred Model of Genetic Counselling

Abstract

I always enjoyed science, especially biology. When I was 14 years old in my third year of high school in Newcastle, New South Wales, Australia, we studied genetics. I remember learning the difference between autosomal dominant and recessive inheritance patterns, and how I loved completing punnet squares. At the end of that year I first heard about genetic counselling. One of my science teachers left teaching to study genetic counselling at Australia's first university course in genetic counselling at The University of Newcastle. I stayed in touch with this teacher, and from the age of 15 I visited the clinical genetics unit where she worked once or twice each year. I finished high school, where biology and French were my two favourite subjects. I deferred a Science degree at The University of Newcastle and was lucky enough to be selected to be a Rotary Exchange student. I spent a year in the French Alps improving my French, learning to ski, and eating and drinking plenty of France's finest food and wine, amongst other things. Upon returning to Australia I decided to change to an Arts degree and was thinking about becoming a speech pathologist after discovering my interest in languages and linguistics. However after the first semester I realised I missed studying biology and decided to change back to a science degree. After my second year at The University of Newcastle I decided that a change of scenery was in order and moved interstate and enrolled in a science degree and a Diploma of Modern Languages at The University of Melbourne. I completed my undergraduate work, having studied genetics, psychology and French. Although I became a little distracted at times over the years thinking of other professions, I always seemed to return to the idea of a career in genetic counselling. It was at this stage I was accepted into the Graduate Diploma in Genetic Counselling at the clinical genetics unit in Newcastle, where I had visited regularly as a student. To say I was excited is an understatement. It was a fantastic year of very practical studies in clinical genetics and I am still very appreciative and indebted to the genetic counsellors and other staff in this unit. My postgraduate studies soon came to an end. So 9 years after discovering genetic counselling I was board eligible. I also obtained my first genetic counselling position. My first position was to re—establish a genetic counselling service in a rural child development unit. It was challenging in the beginning, but slowly referrals increased, and I started seeing clients. It was at this time that I started to think about certification. Some of the other genetic counsellors in my supervision group had begun pursuit of their certification, and I was keen to commence. To become board certified at that time in Australasia, candidates had to complete, amongst other things, 20 long cases demonstrating their growth and knowledge in genetic counselling. Long cases consisted of summarising a case where there was a pertinent counselling or genetic issue. Candidates also had to write a referenced discussion on the relevant counselling issues and genetic condition as well as comment on the supervision provided for the case. Each 6 months I submitted several long cases as well as the required short cases and clinical supervisor reports. After 4 years in the profession, monthly counselling and genetic supervision and a few job changes it was time to write long case 20. I wanted it to be special; to really showcase how far I've come and how well I can do my job. In those 4 years I had accrued genetic counselling experience in rural and metropolitan clinical genetics units and also in general, prenatal and cancer genetic counselling; I was very grateful to have such a varied experience. But I was still waiting for that special case to come along that I could use as my final long case. One morning the clinical geneticist and I had a familial cancer clinic. One of our clients was returning for a second appointment to receive her BRCA mutation result. She had been referred for genetic counselling due to her personal and family history of breast cancer. Unfortunately she had developed breast cancer in her late 20s. She was a native French speaker. She had undergone surgery and chemotherapy in her home country and was attending a local hospital close to our service for radiotherapy. After receiving the referral I conducted the intake by telephone in French. Although my French is not perfect I was able to explain the reason for the referral and draw her family tree. I arranged an initial appointment for her with the clinical geneticist, me, and a French interpreter. At this first appointment our client was sitting speaking in French with the interpreter. I introduced myself in French, and we chatted for a few moments. When the clinical geneticist arrived, I said in French that I was now going to speak in English and everything the doctor and I said would be interpreted into French for her by the interpreter. The consultation was quite straightforward, and I said I would call to arrange an appointment for her to receive her results when they were available. When we received the results, I called my client. She said the appointment would have to be soon as she was leaving the country on Saturday. I arranged an appointment for Friday. Twenty minutes before the appointment the interpreter called in sick. I could not find a hands-free telephone we could use to call another interpreter, and we could not postpone her appointment as she was returning home the next day. So I discussed with the clinical geneticist that perhaps I could lead the consultation in French. I explained that my spoken French is fairly good. I lived in France for a year and studied French for 5 years at university. Although I'm not a qualified interpreter, I had completed a 4 day French/English interpreting course. I was concerned that it was not best practice but with agreement from the geneticist, given the circumstances, we decided to proceed with the appointment. Our client attended the appointment with her sister in law who also only spoke French. A BRCA mutation had been identified, and I needed to convey this result and associated implications. At times I was counselling in my second language, and at times I was interpreting for the geneticist. I was conscious of trying to maintain rapport in French which was something I had little practice doing before. The geneticist kept asking what I was saying and told me to say things which I had already said. I was not sure how to say “preventative bilateral salpingo oophorectomy” in French but I did know how to say “remove both ovaries and tubes!”. Fortunately I was able to convey everything needed in French. Both the geneticist and I answered all of her questions and my client expressed gratitude for how the appointment was conducted. She thanked me at the end of the appointment and we arranged for our clinic letter, which was written in English, to be translated into French. I also learnt that there was a policy from the New South Wales Department of Health stating that people working in a health care service can perform their own work or similar work in another language if they can speak that language. They are not allowed to informally interpret for someone else who does a completely different job. Although being bilingual is not uncommon, and there must be many genetic counsellors worldwide who work in more than one language, being able to successfully conduct a genetic counselling appointment in my second language was a rewarding and satisfying experience. I wrote up this case as long case 20 using the article “Coming Full Circle: A Reciprocal–Engagement Model of Genetic Counseling Practice” (McCarthy Veach et al. 2007) as my model of genetic counselling. Some of the fundamental issues in our profession are “What is genetic counselling?” and “How do we provide genetic counselling?” As genetic counsellors, we have training in the concepts of Person Centered therapy and are skilled at building rapport and engaging with our clients by using techniques such as active listening, non judgmental approaches and empathy, but I wanted a model of practice. I did not think it is good enough to say I use an eclectic model of counselling. When I came across the Reciprocal–Engagement Model (2007), it really resonated with me. I agree that giving information and education is part of our role, but we do more than that. We are able to work with the individual attributes of our clients to achieve an appropriate genetic counselling outcome through the relationship that we build with our clients. As in other areas of medicine, I believe diversity of our genetic counselling workforce is important. Not only diversity in our heritage, ethnic backgrounds, religions and religious beliefs, gender and sexuality, but also in our academic backgrounds. My varied undergraduate academic interests in French, psychology and genetics before I even started studies in genetic counselling prepared me in ways to meet the demands of this case I could never have anticipated. The case was accepted and I became board certified. To date, this has been my most significant defining moment in genetic counselling.