Talk TitleSpeakerAbstract Duration
Genetic Tools in the Management of Reproductive Health: Opportunities and ChallengesDr Nayana PatelThe presentation highlights the significant role of genetics in infertility for both males and females. With advancements in assisted reproduction techniques such as IVF, genetic testing and counseling have become essential for infertile couples. It discusses various genetic factors like chromosomal abnormalities, single gene disorders, and polygenic conditions affecting fertility. Integration of assisted reproductive technologies with genetic counseling enables couples to make informed reproductive choices, avoiding the transmission of genetic diseases to offspring. A comprehensive genetic workup allows for a preventive approach, leading to better management and improved fertility outcomes. Overall, genetic testing is portrayed as a potent tool for overcoming infertility in the genomic era.20 minutes
Genomic based testing as an adjunct to traditional newborn screeningDr. Saumya Shekhar JamuarSingapore's successful NBS program, initiated in 2006, detects pre-symptomatic inborn errors of metabolism (IEM) via tandem mass spectrometry, enabling early intervention and averting long-term complications. Despite a 1:3000 detection rate over 13 years, half of treatable inherited disorders (TID) go unnoticed, including prevalent ones like citrin deficiency and Wilson disease. Hence, integrating genomic-based targeted NBS could enhance detection and early intervention. This talk will share the journey of developing a customised amplicon-based assay on the Ion Torrent platform to target genes associated with TID that are relevant to our local population and discuss recent updates on using whole genome sequencing for newborn screening.

20 minutes
PGD-SEQ KIT (PGT-M) , Immunocompatibility KIT (KIR-HLA-C, RhD & AB0), ER KIT (Endometrial Receptivity)Dr Alicia AntónThe presentation features real-world examples, such as cases involving Duchenne Muscular Dystrophy (DMD) and the combined HBB + HLA kit for Beta-thalassemia testing and HLA compatibility. The endometrial receptivity kit was designed to determine the optimal timing for embryo implantation, which can improve the success rate of assisted reproductive procedures. In addition, the Immunocompatibility kit identifies key compatibility factors between couples, such as KIR, HLA-C, RhD factor, and ABO blood groups, crucial for planning and decision-making in reproductive health. In addition to these products, the presentation discusses future projects and ongoing innovations, highlighting the commitment to advancing reproductive genetics and providing insights into the field's future direction.20 minutes

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