PRNewswire
Singapore, July 22: Gene Solutions, a global biotechnology company focused on accessible and responsible genomics, participated as a Premier Partner at the 30th International Conference on Prenatal Diagnosis and Therapy (ISPD 2026), held virtually from July 7-9. Across an industry symposium, a scientific session, two oral presentations and three scientific posters, the company presented data and expert perspectives on how genomics, epigenomics and artificial intelligence may support more comprehensive, personalized and minimally invasive care throughout pregnancy and across women's health.
ISPD 2026 convened specialists in prenatal diagnosis, fetal medicine, obstetrics, gynecology and genetic counselling to advance care for women, children and families worldwide. Gene Solutions brought together experts from Asia, Australia, Europe and the United States to examine both the opportunities and responsibilities associated with the expansion of genomic and epigenomic medicine.
Real-World Evidence and Integrated Prenatal Screening
Gene Solutions' industry symposium, "Advancing Prenatal Screening: Validation and Clinical Utility of Integrated Non-Invasive Testing with Focus on Carrier Screening and Single-Gene Disorders," explored how routine non-invasive prenatal testing (NIPT) could evolve beyond chromosomal aneuploidy screening. The session was moderated by Ida Deleskog Lindstroem, Global Medical Affairs Director at Gene Solutions.
Dr. Natalie Chandler of the NHS North Thames Genomic Laboratory Hub and NHS Great Ormond Street Hospital for Children (UK) shared insights from the UK's experience moving from trisomy screening toward broader prenatal genomics, including NIPT for monogenic disorders. She emphasized that broader testing must be accompanied by rigorous patient selection, robust variant interpretation, laboratory quality assurance and access to genetics-informed counselling.
Dr. Chandler also highlighted important challenges, including maternal somatic mosaicism, inconsistent variant classification, variable penetrance and differences among available panels.
Presenting large-scale real-world evidence, Dr. Sang Hung Tang, Medical Director of the Medical Genetics Institute of Ho Chi Minh City (Vietnam), reported findings from 225,092 Asian pregnant women screened for 18 common recessive conditions through routine NIPT infrastructure across Vietnam, the Philippines, Indonesia, Malaysia, Taiwan region and India between February 2025 and February 2026.
The study found that more than one in four pregnant women carried at least one screened recessive condition, with prominent examples including alpha-thalassemia, cystic fibrosis, beta-thalassemia, 5a-reductase deficiency and G6PD deficiency, an X-linked condition. Through triSure Procare, Gene Solutions has integrated maternal carrier screening and screening for selected dominant single-gene disorders into a routine NIPT offering, supporting a broader view of reproductive genetic risk from a single maternal blood draw.
The data illustrate the potential to leverage existing NIPT workflows for expanded carrier screening from a single maternal blood sample, while underscoring the importance of partner testing, confirmatory diagnostics and expert genetic counselling.
Dr. Hoa Giang, Co-founder and Chief Data Science Officer at Gene Solutions (US), and Dr. Minh-Duy Phan, Head of Data Science at Gene Solutions (Australia), presented emerging research on AI-driven multi-omic biomarkers for the earlier prediction of gestational diabetes mellitus and preterm birth. Their work analyzes fragmentomic and other molecular signals already present in cell-free DNA data, creating a potential pathway to generate additional insights into pregnancy health without another blood draw or additional sequencing.
The research highlighted the emerging role of AI and machine learning in extracting clinically relevant signals from routine NIPT data. This approach aims to broaden prenatal testing from the detection of genetic conditions to earlier risk identification for common pregnancy complications.
Collectively, the presentations outlined a future in which prenatal testing could provide a broader view of maternal and fetal health, from chromosomal abnormalities and inherited disorders to earlier risk stratification for pregnancy complications.
Progress in Minimally Invasive Endometrial Cancer Assessment
Gene Solutions' scientific session, "Minimally Invasive Endometrial Cancer Triage Using Methylation to Reduce Unnecessary D&C/Biopsies in TVUS High-Risk Patients," addressed a significant unmet need: supporting women with abnormal uterine bleeding or elevated endometrial cancer risk in accessing clearer answers while potentially avoiding unnecessary invasive procedures.
Dr. Lee Ho Sze Jacqueline, Honorary Clinical Associate Professor, The Chinese University of Hong Kong, reviewed limitations in current assessment pathways, including the relatively low specificity of transvaginal ultrasound and the burden of endometrial sampling, hysteroscopy, and dilation and curettage.
She discussed the clinical validation of epiHERA®, a cervical-sample DNA methylation assay targeting the CDO1 and CELF4 genes, as a less invasive triage approach. Presented findings indicated that this approach could help clinicians identify patients requiring further investigation while reducing unnecessary invasive endometrial assessments.
Dr. Safedin Sajo Beqaj of Gnosis Laboratories in California (US) shared implementation experience in the US with the assay, marketed as EdenDx, reporting overall sensitivity of 90.2% and specificity of 96.2% in validation cohorts. The test uses familiar liquid-based cervical cytology workflows, offering a potential pathway to reduce unnecessary invasive procedures while maintaining diagnostic accuracy.
Commitment to Responsible Global Implementation
Together with two oral presentations and three scientific posters on expanded carrier screening, thalassemia and NIPT performance, these sessions underscored Gene Solutions' commitment to responsible innovation: population-scale real-world evidence, international academic and clinical partnerships, ethical implementation, genetic counselling and equitable access.
"Our work at ISPD 2026 highlights the importance of diverse datasets, multidisciplinary collaboration and rigorous validation in shaping the future of genomic medicine," said Dr. Hoa Giang, Co-founder and Chief Data Science Officer at Gene Solutions. "We are committed to translating innovation responsibly so it can support women, families and healthcare systems worldwide."
With operations spanning more than 20 markets and a growing network of accredited laboratories, Gene Solutions continues to partner with healthcare providers, researchers and institutions to advance high-quality genomic care.
About triSure Procare
Since 2018, Gene Solutions' triSure portfolio has supported prenatal care for millions of pregnant women through thousands of hospitals and clinics across Asia. Its flagship offering, triSure Procare, integrates NIPT with maternal carrier screening and screening for selected dominant single-gene disorders. Backed by a global network of next-generation sequencing laboratories and more than 20 publications on NIPT and genetic landscapes, triSure Procare was presented to a global scientific audience for the first time at ISPD 2026. This milestone reflects Gene Solutions' continued expansion across Europe, the Middle East, Africa and Latin America as the company works with local healthcare partners to broaden access to high-quality prenatal genomic care.
About Gene Solutions
Gene Solutions is a global biotechnology company applying advanced genomics, multi-omics and artificial intelligence to improve pregnancy care, cancer detection and precision medicine. Its mission is to bring world-class genomics closer to clinicians and patients, expanding access to clinically meaningful innovation around the world.
For more information, visit www.genesolutions.com and follow the company on LinkedIn, Facebook and X.
Contact: pr@genesolutions.com
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