Indonesia’s vast ethnic diversity, with more than 700 ethnic groups, presents a unique genetic landscape that influences the prevalence of congenital disorders, including microtia, a condition in which a child is born with an underdeveloped external ear.
Siti Isya Wahdini, a physician and doctoral student at the Faculty of Medicine, Public Health, and Nursing of Universitas Gadjah Mada (FK-KMK UGM), successfully identified several pathogenic genetic variants among Indonesian patients with microtia.
Through her dissertation titled “Identification of Genetic Variants in Microtia Using Next Generation Sequencing (NGS)”, Wahdini revealed that microtia is a complex genetic disorder, meaning that precision medicine in this context does not focus on gene therapy, but rather on risk stratification, Polygenic Risk Scores (PRS), and genetic counseling related to inheritance patterns and genotype–phenotype correlations.
“By identifying specific genetic variants, we can estimate how much the risk increases for the patient’s family. In the future, if possible, the development of a Polygenic Risk Score (PRS) for this condition should be realized,” she explained on Wednesday, Oct. 22, 2025.
As a reconstructive and aesthetic plastic surgeon, Wahdini emphasized that a deep understanding of the molecular genetics underlying a congenital disorder is essential.
The discovery of Next-Generation Sequencing (NGS) technology in 2003 paved the way for Whole-Genome Sequencing, enabling rapid and affordable genome analysis.
This advancement holds great potential for identifying new genetic variants, including pathogenic variants associated with microtia.
Wahdini further noted that epigenetic environmental factors may also play a role in Indonesia, such as maternal malnutrition (particularly folate and zinc deficiency).
Also, early pregnancy exposure to rubella or cytomegalovirus (CMV) infections, teratogenic drugs like isotretinoin or thalidomide, chemical exposure, severe air pollution, teenage pregnancy, limited maternal healthcare access, and gestational diabetes.
She highlighted the need for preventive and holistic approaches, including maternal health promotion, complete immunization to prevent rubella and CMV infections, high-quality antenatal care (ANC), education on the dangers of smoking, indiscriminate drug use, and pesticide exposure during pregnancy.
“Genetic counseling is also important to help families of children with microtia understand recurrence risks and manage their expectations,” she added.
Upon successfully earning her doctorate with honors (Cum Laude), UGM Professor and thesis supervisor Professor Gunadi, stated that 2025 marks a pivotal moment for genomic medicine initiatives in Indonesia.
He praised Wahdini’s work, which is in strong synergy with the country’s growing genomic research movement.
“Congratulations on this remarkable achievement. May this doctoral milestone become the beginning of a wider contribution to research, innovation, and genomic-based precision medicine in Indonesia,” said Professor Gunadi.
Author: Alena Damaris
Editor: Gusti Grehenson
Post-editor: Lintang Andwyna
Illustration: Pexels