Session Abstract – PMWC 2021 Silicon Valley

Researchers have long been recognizing the uniqueness of women’s health and the substantial effect on clinical practice, acknowledging the increasing appreciation of the importance of multidisciplinary approaches to health and disease. In every organ system, there are diseases that are unique to women, more common in women than in men, or characterized by differences in disease course in women compared with men. This session will include the effect of women’s health on the following topics:

  • Reproductive Women's Health Overview
  • Preterm Birth & The Promise Of Biomarkers
    New “omics” assays that measure multiple biomarkers shed light on processes that lead to increased risk of preterm birth and generate biomarkers of risk of preterm birth that are useful for prediction. Those two applications (mechanism identification and prediction) could be useful for developing therapeutic targets, diagnostic tests, as well as identifying populations at particularly high risk in whom interventions might be most important.
  • Preterm Birth and Oral Health
  • NIPT
    Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus, providing much higher test sensitivity and specificity than traditional maternal serum screening for trisomy 21, 18 and 13. New approaches for non-invasive prenatal sequencing are being developed to detect causative genes for frequent dominant monogentic diseases that can lead to significant adverse health outcomes. This will help guide physician and parent decisions for further evaluation and management of the pregnancy.
  • The Evolution Of Genetic Carrier Screening
    Before definitive identification of causative genes and associated mutations, carrier screening relied on biochemical techniques, utilizing measurements of enzyme activity and/or substrate levels. As genes and mutations were identified, molecular-based screening became the standard. Advances in molecular technologies, especially next-generation sequencing (NGS), have changed the landscape of carrier screening – providing information about multiple genes, the whole exome, or even the whole genome. The panel will discuss the conditions and genes most appropriate for screening, and whether it is time to screen the whole genome.
  • Infertility Outcomes: Genetics And Epigenetics
    This talk will cover the impact of genetics and epigenetics of infertility diagnosis associated with epigenetics of various treatments on overall pregnancy outcomes. Studies are starting to suggest that genetics and epigenetics of infertility diagnoses affect outcomes for mother and child, which may be a greater contributor than treatments utilized.
  • AI in IVF: Selection Of Optimal Embryo
    AI is not meant to replace the doctors and embryologists but rather to be used as a tool to medical practitioners in augmenting correct diagnoses and increase the robustness of the treatments and increase pregnancy and LB rates.
  • Expanded Carrier Screening For Serious Inherited Disorders
    Carrier screening has been a routine part of prenatal care for over 50 years. Traditionally, screening has been limited to a small number of conditions in selected ethnic groups. This talk will describe advances in technology that now make possible pan-ethnic screening for a large number of serious conditions.
  • Precision Medicine Leads to Better Fertility Outcomes
  • Endometriosis
    This common, estrogen-dependent, inflammatory disease that is associated with a high prevalence of pelvic pain and reduced fertility in women remains challenging for clinicians, researchers, and those affected. A considerable heritable component to endometriosis risk has been established through both family- and population-based studies. New minimally invasive diagnostic methods are being developed to enable early intervention that might reduce suffering and expenses related to the disease.
  • Preimplantation Genetic Testing Beyond Recessive Disease
  • In Vitro Fertilization
    Despite continual advances in techniques and technology since the introduction of in vitro fertilization more than 40 years ago, this approach is successful in fewer than half of initiated cycles. Major advancements have been made in methods to improve oocyte quality in older women, new stimulation protocols that may improve the number of mature oocytes retrieved during in vitro fertilization cycle, pre-implantation genetic screening, and endometrial receptivity evaluation.
  • Menopause and Early Predictors
    Current osteoporosis medications reduce fractures significantly but have rare and serious adverse effects that may limit their safety for long-term use. Insights from basic bone biology and genetic disorders have led to recent advances in therapeutics for osteoporosis. Combination and sequential treatments using osteoporosis medications with different mechanisms of action have also been tested with promising results. On the horizon is the potential for cell-based therapies and drugs that target the elimination of senescent cells in the bone microenvironment.
  • Breast Cancer Genetics: Molecular Tumor Signatures and Hereditary Cancer Tests
    Advances in molecular pathology and hereditary cancer assays have led to a new understanding of breast cancer classification systems, allowing for precision thera-py using molecular tumor signatures that guide both systemic treatments and per-sonalized radiotherapy. The goal is to minimize overtreatment and treatment-associated morbidity for patients while preventing progression and recurrence. This session will focus on the current state of progress in these pursuits and discuss the challenges including prior authorization issues and the growing size of assay pan-els.
  • Showcase
    - Kevin P Rosenblatt, NX Prenatal

 Session Chair Profile

M.D., Ph.D., Chief Genomics Officer (CGO), UCSF Health

Dr. Aleksandar Rajkovic serves as the UCSF Chief Genomics Officer and is the Medical Director and Chief of the Center for Genetic and Genomic Medicine (CGGM) that organizes, coordinates and oversees Clinical Genetics and Genomics Services across the entire UCSF Health System. He also serves as the Director of the Genomic Medicine Initiative. He is also Stuart Lindsay Distinguished Professor in Experimental Pathology I, member of the American Society of Clinical Investigation and American Association of Physicians. His research interests lie in basic and translational medical sciences in the area of reproductive genetics. Dr. Rajkovic discovered numerous genes that play critical roles in reproductive tract development, male and female infertility, and uterine tumors. He has been at the forefront of applying cutting edge genomic technologies to reproductive diagnostics, including prenatal diagnosis, preimplantation genetic screening, and perinatal genomics. He has made significant contributions to non-invasive diagnosis of submicroscopic deletions, design and utility of dense X chromosome arrays, and utility of genome wide detection of copy number variants in prenatal diagnosis. His current interests lie in whole genome applications towards population based health prediction and prevention, as well as prevention of Mendialian disorders.

 Speaker Profile

M.D., Ph.D., Chief Medical and Scientific Officer, NX Prenatal

Dr. Rosenblatt leads the clinical assay development efforts for NX Prenatal, leveraging more than 29 years of clinical and biomedical research and development experience in multiple settings, including academia, biotech, startups, and clinical practice. Prior to joining NX Prenatal, he was Chief Scientific Officer, Chief Medical Officer, and Clinical Laboratory Director at CompanionDx's CLIA/CAP certified reference lab. Among other appointments, he has served as Director of the Center for Clinical Proteomics at the Brown Foundation Institute of Molecular Medicine, as well as the Director of the UT Health Science Center at Houston's Center for Clinical and Translational Sciences Proteomics Core. Dr. Rosenblatt also serves as Associate Professor in the Division of Oncology, Department of Internal Medicine at UT Health and the McGovern Medical School and Associate Adjunct Professor in the School of Health Professions at the MD Anderson Cancer Center. Earlier in his career, Dr. Rosenblatt was co-founder and Laboratory Director of Risk Assessment Laboratories, which partnered with Perkin-Elmer to develop adverse pregnancy outcome biomarkers.

Women's Health Showcase:
NX Prenatal

NX Prenatal utilizes proprietary exosome-based liquid biopsy techniques to create breakthroughs in maternal-fetal diagnostics. Our NeXosome® Platform has yielded Preterm Birth and Preeclampsia biomarker panels at week 10-12 of pregnancy in asymptomatic women to support personalized care pathways.

Exosomes: Decoding Maternal-Fetal Cross Talk
Maternal-fetal cross-talk is mediated by exosomes, which actively support a number of physiological systems, including regulating the immune protection of the fetus. NX Prenatal has demonstrated that the profiling of exosomal-bound proteins circulating in pregnant women provides early markers predicting preterm birth and preeclampsia, and also provides new insight into the molecular pathways associated with such outcomes.