The paper describes the implementation of a reproductive carrier screening program in Singapore, focusing on diverse Asian populations and highlighting community engagement and initial outcomes.

BMC Medicine · Oct 7, 2026Peer-reviewedGenetic & Genomic Medicine

Preferences and willingness-to-pay for expanded carrier screening programmes in the general population: An integrative systematic review and meta-analysis

Myrabeth Yeo Juann, Yasmin M. Bylstra, Nicholas Graves, Jeannette Goh, Christina Choi, Shermaine Chan, Saumya Shekhar Jamuar, Robin D. Blythe

This study reviews population preferences for expanded carrier screening programs and finds a median willingness-to-pay of $107 for screening.

medRxiv · Mar 25, 2026 · PreprintGenetic & Genomic Medicine

Family History Assessment Significantly Enhances Delivery of Precision Medicine in the Genomics Era

Yasmin M. Bylstra, Weng Khong Lim, Sylvia Kam, Koei Wan Tham, Rebekah Ryanne Wu, Jing Xian Teo, Sonia Dávila, Jyn Ling Kuan, Sock Hoai Chan, Nicolas Bertin, Cheng Xi Yang, Steve Rozen, Bin Tean Teh, Khung Keong Yeo, Stuart A. Cook, , Patrick B. O. Tan

This study shows that family history collection improves the detection of pathogenic variants in genomic data, enhancing precision medicine by identifying high-risk individuals.

Genome Medicine · Jan 7, 2021Peer-reviewedGenomics

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. A. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, , Keijan Zhang

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

Genetics in Medicine · Mar 20, 2019Peer-reviewedGenomics