Laurie Simone, MS, CGC (she/her); Amanda de Leon, MS, CGC (she/her); Daniela Diaz Caro, MS (she/her); Sonia Margarit, MS, CGC (she/her)
Genetic Counseling in Latin America
The roles of genetic counselors are not yet recognized as independent professions in most of Latin America. As a result, genetic counseling services are generally provided by physicians (geneticists and oncologists) though some nurses have even reported providing genetic counseling services, despite having little to no training. Currently, there are very few formally trained genetic counselors in Latin America due, at least in part, to limited access to training programs. Two formal genetic counseling programs exist today, which include Cuba’s and Brazil’s master’s degree programs. Although these genetic counseling programs are available, it is unclear what roles these genetic counselors are fulfilling in their areas of practice. The unmet needs in Latin America for genetic counseling need to be further investigated.
Perspectives from a Chilean Genetic Counselor
In 2004, Sonia Margarit, CGC became the only genetic counselor with formal training at the Center of Genetics and Genomics Faculty of Medicine Clinica Alemana Universidad del Desarrollo in Santiago, Chile.
In Chile, there are no practicing genetic counselors with formal training; genetic counseling is performed mainly by MD geneticists, physicians, and nurses with interest in genetics and hereditary cancer, or by PhD biologists who do research in cancer genetics. With little recognition and understanding of what role genetic counselors play in patient care, in addition to the lack of healthcare professionals in the field, Sonia realized the importance of promoting genetic counseling and the need to develop formal training programs which in turn became one of her main goals during her years of practice in Chile.
In 2013, she began a 3 year collaboration with the University of Chile in developing the diploma course in genetic counseling in hereditary cancer. This course is still active and in its sixth version in 2022. From 2016 until 2019, with the support of the School of Nursing at the University del Desarrollo, they developed an introductory course on genetic counseling for health professionals from all medical areas. This 3-day course included workshops and discussion of clinical cases across all stages of life. Given the interest and motivation of the students in the introductory course, an online genetic counseling diploma course was developed, which will begin in April 2022. Sonia is hopeful that more healthcare professionals from regional areas of Chile as well as from other LA countries can access the diploma course.
For Sonia, being the only genetic counselor has been a journey full of challenges and accomplishments but she has always remained passionate about her career and is proud to be a part of a working group (SPLAGen) focused on integrating genetic counseling into clinical practice in Latin America.
Creating the Sociedad Professional LatinoAmericana de Asesoramiento Genético (SPLAGen)
In the midst of the pandemic, Latinx members of the Minority Genetics Professional Network (MGPN) gathered to find ways to increase awareness of our genetic counseling community for Hispanic Heritage Month. A project was proposed to help facilitate connections between Latin American genetics providers and local families at risk for genetic conditions. This project idea was proposed by Brenda Zuniga, CGC, and Laurie Simone, CGC. The initial result from pursuing this project was the discovery that out of 126 Latinx MGPN members, we collectively only knew of 30 providers out of all 33 countries in Latin America. This indicated a shortcoming in our community regarding our understanding of the state of the genetics profession in Latin America.
Through this project, several individuals began to think of ways to (1) connect with genetics professionals, (2) understand how genetic counseling is practiced, and (3) contribute to the field in Latin America. Discussion of these topics amongst Latinx members of MGPN was undoubtedly motivated by the strong connection we feel to the countries, communities, and cultures of our heritage. Laurie Simone spoke with Sonia Margarit, CGC about genetic counseling services in Chile. Around this time, Daniela Diaz Caro had a conversation with Mercy Laurino, CGC, PhD who shared her experience establishing the Professional Society of Genetic Counselors in Asia (www.psgca.org). These conversations provided a direction and the necessary impetus to propel Laurie Simone, Daniela Diaz Caro, and Amanda de Leon, CGC forward, to begin formulating how to best support the field of genetic counseling in Latin America.
Our first step to achieve this goal was to establish a name: The Latin American Professional Society of Genetic Counseling (abbreviated in Spanish as SPLAGen). We then set our goals which are to promote awareness of and access to genetics services and counseling in Latin America. We plan to accomplish these goals by fostering genetic counseling education, advocacy, research, networking, and public policy. It was imperative that we established an organizational structure that ensures appropriate decision-making inline with SPLAGen’s goals while also prioritizing the interests of Latin American genetics providers.
We consider this structure to be particularly important because we want to safeguard against our biases as genetics professionals trained in the United States. We aspire to create a collaborative organization that utilizes the development of genetic counseling in the United States not to prescribe practices and objectives for Latin America, but rather to inspire, support, and contribute to the vision Latin American professionals have for the field in their communities. To this end, we have written our bylaws and hope to soon establish the leadership positions necessary to carry out much of this work. Looking ahead, we hope to apply for 501c3 status and find ways to fund projects, like those described below, that align with our goals.
Our First Step to Increasing Access to Genetic Counseling in Latin America
We recognize that this is an ambitious mission but we know that we would need to set a strong foundation in order to support the success of SPLAGen. Our three initial goals to establish this Society are: create awareness, grow our community, and define our leadership structure.
To create awareness, we created a website, as well as built a social media presence on platforms such as Instagram, Twitter, Facebook, and Linkedin . Two social media interns, Kevin Bowles and Isabela Bucco, are prospective genetic counseling students who have been instrumental in creating posts in Spanish and Portuguese. Jimena Prado, CGC is a Canadian genetic counselor that currently serves as SPLAGen’s Marketing and Communications Director. In order to grow our community, we first need to understand who would be interested in joining. Our most demanding project right now is to build a directory of both Spanish- and Portuguese-speaking genetic providers in the U.S and Latin America on our website. We hope to continue to expand this as more providers become aware of the directory. This directory will provide us a diverse membership to collaborate with and will be beneficial for connecting patients for appropriate cascade testing in various Latin American communities. Finally, we are hoping to start recruiting individuals who are interested in leading this society as we transition into the next steps.
We appreciate this opportunity to showcase the first steps of our journey and are excited for what our future holds. If anyone is interested in becoming involved, please reach out to us! There are many different ways that both genetic professionals and students can contribute towards our goals and we would love your support.
- Abacan, M., Alsubaie, L., Barlow-Stewart, K. et al. The Global State of the Genetic Counseling Profession. Eur J Hum Genet 27, 183–197 (2019). https://doi.org/10.1038/s41431-018-0252-x.
- Cruz A. L. (2013). An overview of genetic counseling in Cuba. Journal of genetic counseling, 22(6), 849–853. https://doi.org/10.1007/s10897-013-9635-x
Laurie Simone, MS, CGC (she/her) is a general genetics genetic counselor and graduate of Rutgers University Genetic Counseling Program. She currently practices as a genetic counselor at Hackensack University Medical Center. Laurie’s professional interests include expanding access to genetic services in Latin American communities.
Amanda de Leon, MS, CGC (she/her) is a cancer genetic counselor at the University of Texas Southwestern Medical Center and a graduate of the University of Minnesota Genetic Counseling Program. Amanda’s professional interests include supporting underserved patient populations such as those she sees at the county hospitals that she works at. She also has a strong interest in barriers and motivations to cascade testing for this patient population and their families.
Daniela Diaz Caro, MS (she/her) is a research genetic counselor at Columbia University Irving Medical Center and graduate of Stanford University Genetic Counseling Program. Daniela’s professional interests include translational research focused on improving genetic counseling services and outcomes for Latin American communities.
Sonia Margarit, MS, CGC (she/her) is a general genetics genetic counselor and graduate of Sarah Lawrence College Genetic Counseling Program. She currently practices as a genetic counselor at Universidad del Desarrollo in Chile. Sonia’s professional interests include developing genetic counseling training programs and genetic counseling in Latin America.