This is the fiftteenth 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.

 Andrea Herencia Andrea Herencia
My name is Andrea Herencia, and I am a Spanish geneticist from the Spanish Society of Medical Oncology (SEOM). I received my B.Sc in Genetics at Autonomous University of Barcelona (UAB), and my M.Sc in Clinical Analysis Laboratory at Pompeu Fabra University (UPF).
How did you become a genetic counselor? 
I always knew I wanted to dedicate my life to bioscience, to explain why living beings are the way they are, and answer those questions that someday could save people’s lives. When I started high school and I first studied Mendel and his peas, I realized that genetics was the origin of all those ways of being, the solution to all of those questions: genetics was the origin of everything.
From that point, I started to dive deeper into genetics by myself beyond the high school and I participated in the Science Fair of my town demonstrating Mendelian genetics with mice. After that, I decided to move to Barcelona to do my Bachelor of Science with a genetics major. During my first year of study, some people I love were diagnosed with breast cancer and were referred to a genetic counsellor. The suffering it brought to me and my family made me reconsider my future as a scientist. I wanted to study genetics, but also be with patients — could I find a job where genetics and patient care were combined? A job where you help people with genetic disorders? There was one, and I wanted that job: I wanted to be a Genetic Counsellor.
So, unlike most of my classmates, I finished my B.Sc with the dream of becoming a genetic counsellor. Besides genetics, I wanted to have clinical laboratory skills.  So after the degree, I started my Master Degree in Clinical Analysis Laboratory, meaning I could perform both the consultation consultation and the genetic tests or analysis.
I volunteered at Catalan Institute of Oncology (ICO, Barcelona), which is one of the most important centers in Spain regarding genetic counselling, and then, at the genetic counselling unit in Hospital del Mar (Barcelona). During these voluntary services, I had my first experience with families and I learned how to perform a consultation, treat families, transmit information and, in conclusion, about genetic counselling, and this is how I made my dream come true. An old professor and a current good friend of mine once quoted the great Chinese philosopher Confucius and told me: “Choose a job you love, and you will never have to work a day in your life”, and I have chosen mine.
Do you specialize in any subfield(s)?
During the degree, I studied the genetics of many different diseases, but the one I have seen the most is cancer. During my genetic counselling work experience I was under the supervision of Dr. Servitja, the oncologist that first gave me the opportunity to start my career, so we worked mainly in cancer. I believe it is amazing how a genetic counsellor can help people who feel that everything is lost after their diagnosis see that it is not, and explain that they are not responsible for the mutation in their family. Seeing how they recover their smile and hope is priceless.
How many genetic counselors do you directly work with? 
Although our unit is not very big, we have all the professionals we need. I work with a gastroenterologist in consultations related to digestive cancers, and with an oncologist in the rest; in all of the consultations there is a nurse specialized in genetics, and we have a psycho-oncologist in the center as well. Furthermore, we are always in contact with doctors from many other fields in case we need their help, so I think we have a very diverse and, at the same time, complete group!
Do you collaborate with genetic counselors who are not local? 
Unfortunately, I do not collaborate with any genetic counselor who is not local since as our unit is not very big. What we have in many cases, are foreign patients from all over the world, so sometimes the consultation has to be performed in English. However, I have to say that it would be a pleasure learning from non-local professionals: seeing how they work and share experiences would be unforgettable and, for sure, applicable to our consultations. I do not discard the possibility of someday work abroad and, in fact, it is a challenge that I want to take if I have the opportunity.
Nevertheless, we share information with genetic counsellors from other countries, and nowadays with social media, that’s a very easy task! The #gcchat conversation is an incredibly well-established way to share information, experiences and everything we know about genetic counselling, that’s why I decided to create my own account, @andrea_herencia.
Do you serve on any committees/organizations?
I am currently a member of the Spanish Society of Medical Oncology (SEOM), an organization that contributes to the formation, information, and support of oncologic patients and their environment; I am a member of the Catalan Society of Biology as well.
What projects/research are you involved in? 
During my years of formation, I researched in several centers; my first experience as a researcher was at CABIMER (Andalusian Centre of Molecular Biology and Regenerative Medicine), studying the molecular mechanisms that give rise to the Leber Congenital Amaurosis, an eye disorder that primarily affects the retina, causing severe visual impairment beginning in infancy. I discovered a new world out of the theory and books from university, I met awesome people who taught me different techniques and protocols, and I learned how to work in a real laboratory.
I decided to move to Canada to finish my B.Sc in British Columbia and had the opportunity to study in a Canadian university; I took many courses that did not exist in Spain, and I learned much from this country, it was amazing, I love Canadian people! Besides that, I took a psycho-oncology course as well in order to have a better understanding of patients’ situations and give a deeper service, which was very useful.
After that, I did a stay at IRB (Institute for Research in Biomedicine) to perform my thesis on mental disabilities caused by mutations in the ADAT gene at the Gene Translation Laboratory. Finally, I was researching at Généthon (Evry, France), a center fully dedicated to the design and development of gene therapy treatments for rare diseases. This was a huge step for me since I started studying molecular mechanisms of diseases and finished looking for treatments.
What are some of the challenges you face practicing in Spain? Are there enough genetic counselors to meet patient demand? 
The main problem we have in Spain regarding genetic counseling is the lack of awareness of the services we offer not only among Spanish population but also among other healthcare professionals, which I think is a common problem around the world. I believe that this situation is caused because there is not a specialization or a postgraduate course in Spain to become a genetic counselor. This is the reason why Spain does not have enough genetic counselors to meet patient demand. However, our country is trying to establish a genetic counseling postgraduate program, as well as a genetic unit in every hospital. With a growing number of campaigns, genetic counselling is becoming more important since the population is realizing the advantages it could provide.
Are your/patient’s resources limited? 
In Spain we have the great advantage that the cost of genetic counselling is covered by our National Health Insurance in every case. The limitation is that there are Spanish cities without any genetic counsellor and this, together with the growing demand, gives rise to the gap, previously mentioned. It has been calculated that we need at least twice the number of genetic counsellors we have nowadays to meet patients demand.

 Sonia Margarit Sonia Margarit
What are some of the challenges you face practicing in Chile?
One of my biggest challenges practicing in Chile, as is similar for many other genetic counselors throughout the world, is recognition and awareness of our value by healthcare institutions, providers, and patients. With a lack of acknowledgement and understanding of what role genetic counselors play in a patients’ care comes a lack of resources for us within the public healthcare system for genetic testing.
How many genetic counselors do you work with?
I am the only genetic counselor in Santiago. I work with two geneticists and MDs specifically from oncology, and there are just a few nurses who obtain training through certificate courses in hereditary cancer. However, as far as I am aware, I am the only genetic counselor board certified from the USA in all of Chile.
Are there enough genetic counselors to meet patient demand?
No. Since there are no other genetic counselors there is a huge gap. Mainly geneticists, laboratory researchers and MDs with knowledge in genetics provide genetic counseling to affected individuals.  It is rare to find non-MD providers with training in genetic counseling. Our goal at the University is to develop a postgraduate diploma course in genetic counseling for health care providers from different specialties in order to fill in the lack of genetic counselors.
Do you collaborate with other genetic counselors who are not local?
Yes, it´s essential to collaborate with genetic counsellors from the US as well as geneticists throughout South America and other countries.  I work on a daily basis with two geneticists at the Center of Genetics and Genomics of Clinica Alemana Universidad del Desarrollo. The Director of the Center is Dr. Gabriela Repetto and our main focus is to develop liaisons with other South American countries and International societies in order to progress the genetic counselor community.
Are your/patients resources limited?
Yes. As a genetic counsellor, my resources are limited due to the lack of literature that is available in Spanish, and although I can comprehend English it is double the time and work to translate everything from English into Spanish, not only for patients but colleagues as well. Patients rely strictly on information given by either their doctor or myself; so, even though it’s sufficient, if they try to do research on their own they can run into a language barrier as well.
How did you become a Genetic Counselor?
I always liked science and helping people.  My first degree is from Argentina working as a teacher in Biology.  For personal reasons, I moved to New York, and while working in the Cell Biology lab at Mt. Sinai I learned about genetic counseling and found it amazing. To be able to help people and provide genetics information- what more can I ask for?
What projects/research are you involved in?
Currently, I work in providing courses in genetic counseling, which I have been providing since 2013. My hope is to develop a diploma course in genetic counseling for 2019.  My aim is to provide this certificate course in a mixed format, 7 months online and a one-week in-person workshop of genetic counseling for health care providers from all of South America. Building a community of genetic counselors in South America is my number one priority.
Do you specialize in any subfield(s)?
Since I’ve been in Chile my specialty has been in hereditary cancer, although I do adult genetic counseling for neurodegenerative disorders such as Huntington’s and occasionally I do pediatric genetic counseling.  Back in the states, I was focused on prenatal genetic counseling, however in Chile only recently has abortion been approved for lethal conditions. Before 2017 it was penalized by law regardless of circumstance, so prenatal genetic counseling does not yet exist here.
Do you serve on any committees/organizations?
I serve on the Chilean Genetics Society, which is involved in developing national guidelines for genetics and genetic counseling in the public healthcare sector. I provide genetic counseling to DEBRA Chile and belong to the Huntington Group of Chile as well.

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