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:
- 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.
- Amy Murtha, UCSF
- Larry Rand, UCSF
- Stephen Quake, Stanford
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.
- Brynn Levy, Columbia University
- Bill Chang, Yourgene Health
- Maximilian Schmid, Roche Sequencing Solutions
- Carrier Screening And Moving To Whole Genome
Prenatal genetic carrier screening has changed rapidly over the past few decades, driven by advances in technology, increased awareness of rare inherited conditions and their impact on families, and increased availability of treatments for inherited rare diseases. As we move from screening only a limited number of variants in a small handful of conditions in only high-risk populations to screening many variants in a large number of genes across broad ancestry groups, the conditions and genes most appropriate for screening remain a matter of debate.
- James Goldberg, Myriad
- Jennifer Saucier, Natera
- Nikica Zaninovic, Weill Cornell Medical College
- Aimee Eyvazzadeh, Egg Whisperer
- Margareta D. Pisarska, Cedars-Sinai Medical Center
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.
- Heather Bowerman, Dotlab
- 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.
- Akash Kumar, MyOme Inc.
- Menopause & Osteoporosis
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.
- Marcelle Cedars, UCSF
- Breast Cancer
Advances in molecular pathology have led to a new understanding of existing cancer classification systems. Inter-tumoral heterogeneity remains a critical factor at the analysis of breast cancer molecular pathology, with vast variation at the genetic, cellular, morphological and microenvironmental levels. As few breast cancers are truly the same, precision therapy is critical to minimize overtreatment and treatment-associated morbidity, while preventing recurrence and progression.
- Eleanor Harris, Case Western
- George Sledge, Stanford
- Barbara Cohn, Public Health Institute