This is the thirteenth installment in our series, “Trailblazing Genetic Counselors,” in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ (NSGC) website,
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In this episode, we interview international genetic counselors to gain insight on the experience of genetic counselors around the world.

 Mio Tsuchiya, MPH, CGC  @30Tsuchiya   Sanofi-Genzyme ,  Sanofi K.K.  Mio Tsuchiya, MPH, CGC @30Tsuchiya Sanofi-Genzyme , Sanofi K.K.
What are some of the challenges you face practicing in Japan?
The awareness of the role and the importance of genetic counseling is still low among not only patients but also healthcare providers. Also, patients tend to hide their genetic conditions due to a negative image of genetic diseases in Japan. So patients and doctors are hesitant to talk about their condition and seek treatment.
How many genetic counselors do you directly work with?
There are no genetic counselors at my company except for me. But there are about 200 genetic counselors in Japan, mostly working in hospitals, so I do coordinate with them and keep a close relationship with doctors in other fields, such as cardiologists and nephrologists.
Are there enough genetic counselors to meet patient demand?
Unfortunately, no. With only 200 genetic counselors for 127 million people, it’s nowhere near enough. The interest in genetic-related medicine is there but the number of genetic specialists (genetic counselors and clinical geneticists) to lead our efforts is still too low.
Do you collaborate with genetic counselors who are not local?
I work for a global pharma company so I work with genetic counselors globally, mainly in the US. I attended NSGC’s AEC this year and realized that some of the genetic counselors are sharing information on crucial topics of the conference through social media. So, I decided to create my own Twitter account and join the #gcchat conversation!
Are your/patient’s resources limited?
Regarding the cost of genetic counseling, it’s not covered by our National Health Insurance except for some cases. The cost is different from each hospital, ranging from $50-100 USD in general.
I provide information about the role and the importance of genetic counseling for doctors who are not familiar with genetics, they say “genetic counseling is important, however, it is cost prohibitive for many patients”. To expand our role in the medical field, I think it is necessary to resolve that cost issue.
How did you become a genetic counselor?
When I was in high school, I was interested in biology, especially in medical genetics. So I decided to major in medical technology when I entered college and started my research in genetics. During my research, I realized that I wanted to work closely with patients. That is when I decided to become a genetic counselor. We have own certified program for genetic counselors in Japan. Currently, there are 14 graduate schools which have genetic counseling training programs. I studied genetic counseling courses at the graduate school of Kyoto University. After I graduated, I passed the board exam and am now a certified genetic counselor.
What projects/research are you involved in? Do you specialize in any subfield(s)?
Our company provides treatment for Lysosomal Storage Diseases and I focus on this field. Recently, I have made a special effort generating awareness for Fabry Disease, such as the importance of early diagnosis and family tree taking.
Do you serve on any committees/organizations?
Yes, I am currently a board member of the Japanese Association of Certified Genetic Counselors.

  Eliza Courtney ,  @elizakcourtney  Genetic Counsellor Cancer Genetics Service,  National Cancer Centre Singapore  Originally from Sydney, Australia  Eliza Courtney ,  @elizakcourtney Genetic Counsellor Cancer Genetics Service, National Cancer Centre Singapore Originally from Sydney, Australia
What are some of the challenges you face practicing in Singapore?
I feel that the challenges faced here are in many respects similar to those faced by genetic counsellors around the world. Our group is actively involved in raising the profile of the profession and increasing the awareness of the services we deliver, both amongst our colleagues in the medical community and more broadly in the wider Singaporean population. There will always be a minority of prevailing perceptions that there is limited benefit to genetic testing and an unwillingness to acknowledge its importance in the delivery of multidisciplinary care. Through various activities, such as providing educative presentations and attending tumour boards, we continue to chip away and break down these barriers. Singapore is an extremely diverse country, rich in many cultures and religions. The careful balance between respecting people’s cultural beliefs about cancer and genetic testing, and promoting our scientific understanding, will always be an ongoing challenge in genetic counselling. Cultural competency will always be a particularly important skill when working in Singapore.
 How many genetic counselors do you directly work with?
I am fortunate to work directly with three other very talented genetic counsellors. We are an incredibly multicultural group – we all originate from four different countries (Australia, Taiwan, Singapore, and South Africa). This is also somewhat reflective of the multicultural society in Singapore. With our varied backgrounds, we bring diverse experience and perspectives to the group, which is really helpful when approaching complex cases or challenges in our work. I really don’t think there would be anywhere else in the world where you would be exposed to that level of diversity, both within the team and amongst the patients we see.
Are there enough genetic counselors to meet patient demand?
Is there anywhere in the world that has enough genetic counsellors to meet demand? Across the island, we have about 10 genetic counsellors in total working across a range of genetics disciplines, including cancer, pediatrics, prenatal, general adult and in research roles. Currently, this equates to approximately 2 genetic counsellors/million population, falling far short of the WHO recommendation of 10 genetic counsellors/million population. The head of our service, Dr. Joanne Ngeow, is a wonderful advocate for genetic counsellors and aims to recruit additional genetic counsellors over the next coming years to keep up with the increasing patient demand – in fact, we are currently advertising for a position at the moment!
Do you collaborate with genetic counselors who are not local?
A strong foundation of our service is a collaboration with international colleagues. Our team members have trained far and wide, with Master’s degrees from Australia, US, and South Africa, and with this comes many international connections that provide opportunities for research collaborations, and for seeking expert input for complex cases. We also offer support to genetic counselling Master’s programs looking for clinical placements or research projects for students. At this stage, Singapore does not have its own genetic counselling course and so we do our best to help our international colleagues in these areas.
Are your/patient’s resources limited?
Healthcare in Singapore runs on a co-payment system and so there is reasonable access to affordable high-quality healthcare for all citizens. Genetic testing is still unfortunately not covered in this way and so the cost remains entirely out of pocket for patients. Fortunately, we have been given a philanthropic donation to subsidize the cost of testing for patients experiencing financial difficulties. However, as with any charitable donation, this fund is finite and unsustainable. Our team has been hard at work promoting the benefits and downstream cost savings that come with providing subsidies for genetic testing for patients suspected of having hereditary cancer syndromes (see Li, et al. 20171). We are hoping to make the case to the policymakers to implement sustainable public funding, to ensure the delivery of long-term cancer genetic testing and personalised medicine.
How did you become a genetic counselor?
I first heard of genetic counselling as a 14 year old – my mum’s friend who had been diagnosed with breast cancer was referred to a genetic counsellor for an assessment of her family history. I had just started learning about genetics (Punnett squares and maize if my memory serves me correctly) at school and she told me about this wonderful job that combined the science and talking with people. After that, my study path was planned to direct me to where I am now: I completed a Bachelor of Science (1st Class Hons) with a genetics major and psychology minor. During my holidays I arranged genetic counselling work experience at a busy genetics clinic that was used to having lots of students. The exposure to the job really confirmed my aspirations and after working for a few years in a molecular genetics diagnostic laboratory, I applied for the Master’s program. I was fortunate enough to land my first job whilst I was in my second year of the course!
What projects/research you involved in?
We are really lucky in that Dr. Ngeow is always encouraging us to extend ourselves and take on as many opportunities as possible. In my first year of working here, I have co-authored a textbook chapter and either led or contributed to more than 5 research projects. The topics have been quite varied and included both quantitative and qualitative methods. I find I get far too excited about possible research topics that span too many areas, and so I’m currently trying to figure out what I want my specialty area to be. I have particular interests in ELSI, particularly around the sharing of genetic information and insurance issues – both big challenges in the Singaporean context.
Do you specialize in any subfield(s)?
I certainly consider myself to be well and truly embedded in cancer genetics – I have not worked as a genetic counsellor in any other specialty. I always find it somewhat ironic that during my studies I always thought I’d end up in general or prenatal genetics – cancer terminology was somewhat foreign to me. By good fortune, I landed my first job under the fantastic supervision of A/Prof Judy Kirk who taught me so much about the field and provided me with such a solid foundation for my career. It’s certainly a discipline that I find truly rewarding – to have the opportunity to make a difference to the journey of cancer patients and their families, to strive for better outcomes. My friends always ask me why I enjoy doing what I do, to see people suffering from cancer, often young people my own age. And my response is always the same – whilst there can be a few outliers, most patients are usually coming to genetics to search for answers and to help their family – and if I can support them through that process and make a positive difference, then that is my day made.
Do you serve on any committees/organizations?
I am currently a member of the Cancer Service Line Development Committee for Cancer Genetics at the National Cancer Centre Singapore, which is currently in the process of establishing risk management guidelines and care pathways for our healthcare group.
1. Li S-T, Yuen J, Zhou K, et al: Impact of subsidies on cancer genetic testing uptake in Singapore. J Med Genet 54:254–259, 2017

Check out all other episodes of our Trailblazing Genetic Counselors series here.
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