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Date of Award


Document Type

Thesis - Campus Access Only

Degree Name

MS in Human Genetics

First Advisor

Joseph Fitzpatrick Doyle

Second Advisor

Daniela Diaz Caro

Third Advisor

Laurie Simone


While the genetic counseling profession has been developed in many countries worldwide, it is not recognized as an independent profession in most Latin American (LATAM) countries. This region experiences a scarcity of trained genetic counselors, leading to the common practice of geneticists providing genetic counseling services. To date, no studies have investigated the perspectives of genetic professionals in LATAM regarding the development of the genetic counseling profession. This is of importance as their viewpoints are critical in informing the delivery of genetic counseling services in LATAM, particularly in response to the anticipated demand of precision medicine. By partnering with The Latin American Professional Society of Genetic Counseling (SPLAGen), this study aims to gain insight into the current state of genetic counseling and the challenges associated with its establishment in the region. Interviews were conducted in Spanish and English with 12 genetic professionals providing clinical genetic services in LATAM. Qualitative thematic analysis resulted in six major themes regarding the genetic counseling profession: (1) exposure, (2) understanding, (3) feelings, (4) barriers to its establishment, (5) solutions to its establishment, and (6) hopes for the future. The majority of participants learned about genetic counseling during case discussions in their genetics training and defined it as a multi-step and dynamic process. Although 90% of the medical geneticist participants expressed openness towards genetic counselors working independently, this was contingent on certain conditions. Additionally, the most recurrent obstacle to establishing the field was that non-genetics providers do not have a good understanding of genetics. Among the solutions that were proposed, development of academic programs was most prevalent. This research study was conducted with the hope of aiding initiatives to develop the genetic counseling profession in LATAM. Participants’ hopes for the future of the genetics field include greater access to genetic services, which reflects SPLAGen’s mission.