Thomas Lee, Ph.D
Precise medicine; reproductive medicine; bioinformatics.
Some of the developments in genomics have already led the broader field of reproduction and fertility treatment to embrace the philosophy of precision medicine. For example, carrier genetic screening can help parents make reproductive choices, such as whether preimplantation genetic testing should be used to select embryos that may not carry specific mutations. In older patients undergoing in vitro fertilization (IVF), preimplantation genetic testing for aneuploidy can help select embryos most likely to give rise to successful pregnancies. Preimplantation genetic testing may soon become less invasive if DNA from embryo cultures can be reliably sequenced and shown to mirror DNA in embryo cells. Post-implantation genetic testing is also used to diagnose trisomy 21 and other genetic abnormalities. Likewise, noninvasive prenatal testing (liquid biopsy) in pregnant women can detect enough fetal DNA in the blood to diagnose genetic abnormalities, such as an abnormal number of chromosomes and genetic variants associated with Mendelian disorders. Paradoxically, the same genomic technologies also reveal previously unknown complexity. For example, single-cell DNA sequencing has shown that 80% of embryos have mosaic aneuploidies.
Our DICAT system has also begun to impact reproductive medicine, leading to further personalization. For example, the DICAT can predict blastocyst quality based on static or time-lapse embryo images with high accuracy in individual patients. The system has also been trained to recognize specific areas in the embryo, such as the inner cell mass and the trophectoderm. As we have suggested, optimizing embryo selection may reduce the likelihood of multiple pregnancies and their associated risks. Our DICAT system can also be used to analyze sperm quality, thus helping to optimize intracytoplasmic sperm injection. There are also many other applications of DICAT in obstetrics and gynecology, such as smarter fetal heart rate monitoring during pregnancy as well as prediction and detection of pre[1]term labor and pregnancy complications. We anticipate that these exciting new applications of our DICAT system, such as individualization of hormone treatment, automated assessment of the uterus lining, and many others will continue to make reproductive medicine more precise and individualized, thus improving outcomes and limiting complications.
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