Gender bias and minority health in our medical system can have serious and sometimes fatal repercussions. These inequalities are now being addressed with intensive and collaborative efforts at all levels of research and in the clinical setting. There are many diseases and conditions that are alarmingly more prevalent among women than men that have insufficient knowledge and lack of established concepts, mostly because the medical concepts of most diseases are based on understanding the male physiology. Some examples include:

Women are:

• Seven times more likely than a man to be misdiagnosed and discharged in the middle of a heart attack,
• Up to four times more likely to have migraines and chronic fatigue,
• Three times more likely to be diagnosed with autoimmune disorders,
• Twice as likely to have Alzheimer’s, rheumatoid arthritis, and depression, and
• Nonsmoking women are three times more likely to get lung cancer than nonsmoking men, and it is predicted that in the next 20 years, cancer rates will rise nearly six times faster in women than men.

This is exemplified when you consider gender-specific genetics. Here are a couple of examples:

• There is a female-specific genetic risk for heart disease
• Women who carry the APOE Ɛ4 allele are more likely to experience a faster decline in memory and physical functioning when they have AD than men who carry the same allele

Focusing on addressing the needs of women will enable us to recognize and address conditions that are unique, more common or more serious in women, and to identify risk factors, response to treatment, or interventions that are different for women. A more precise understanding of the biological and social gender factors that contribute to women’s health will also yield discoveries and improved health for men, children, and communities.

“Adding sex and gender to today’s studies not only benefit women’s health, it is also key to improving men’s health.”

“Since ever” women have been under-enrolled in clinical trials

Although there is recognition today of the need to include women at similar levels to men in clinical trials, until about only 25 years ago, essentially all health research was conducted on men. Women were actively excluded from participating in most clinical trials.

This was observed when studying diseases prevalent in both sexes, where males, frequently of the Caucasian race, were considered to be the “norm” study population.

Differences in the physiology of the sexes may not only cause the disease to present differently, but may also translate into differences in pharmacokinetics and/or pharmacodynamics. It is clearly of importance to determine differences at both the molecular and cellular level – and consider for example the differences of circulating levels of endogenous hormones – as they are clinically relevant and can contribute to clinical outcomes. Unfortunately to date, sex is not always recognized as a critical variable for most research and clinical studies.

“The consensus is: that something has to change to make precision medicine a success across all population groups!”

Current genomic research is biased toward populations of European descent

Genomic research has led to numerous advances in our understanding of human history and biology, in addition to leading to discoveries of clinical significance. Yet another aspect of “underrepresentation” can be found in genomic research, which over the last decade has focused predominantly on populations of European descent. Genomic research needs to be conducted with the inclusion of diverse populations to ensure that the genomic revolution does not exacerbate current health disparities by generating discoveries that will disproportionately benefit well-represented populations. Substantial corrective efforts are required – and initiated – to ameliorate this continuing bias.

PMWC Jan. 21-24, 2020 Silicon Valley is giving these issues – underrepresentation of women in research and biased genomic research – its fullest attention to ensure these historical inequalities are addressed with intensive and collaborative efforts at all levels of research, and to guarantee positive outcomes and health for all humanity.

We have a dedicated full-day track on Women’s Health, chaired by Dr. Rajkovic (CGO at UCSF)

This program will focus on the effect on women’s health in the following areas:

Preterm Birth & the Promise of Biomarkers

• This session will look into new “omics” assays that measure multiple biomarkers and shed light on processes that lead to increased risk of preterm birth and outcome prediction.
• Amy Murtha (UCSF), Larry Rand (UCSF), and Stephen Quake (Stanford)

NIPT

• New approaches for non-invasive prenatal sequencing that are being developed to detect causative genes for frequent dominant monogenetic diseases which can lead to significant adverse health outcomes.
• Brynn Levy (Columbia University) and Bill Chang (Yourgene Health)

Carrier Screening and Moving to Whole Genome

• This session will focus on prenatal genetic carrier screening which 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.
• James Goldberg (Myriad), Jennifer Saucier (Natera), Nikica Zaninovic (Weill Cornell Medical College), Aimee Eyvazzadeh (Egg Whisperer), and Margareta D. Pisarska (Cedars-Sinai Medical Center)

Endometriosis

• The session will dive into this common, estrogen-dependent, inflammatory disease which remains challenging for clinicians, researchers, and those affected.
• Heather Bowerman (Dotlab)

In Vitro Fertilization

• Taking a closer look at major advancements through new methods to improve oocyte quality in older women, new stimulation protocols that may improve the number of mature oocytes retrieved during an in vitro fertilization cycle, pre-implantation genetic screening, and endometrial receptivity evaluation.
• Akash Kumar (MyOme Inc.)

Menopause and Early Predictors

• Insights from basic bone biology and genetic disorders have led to recent advances in therapeutics for osteoporosis which will be the focus of this session.
• Marcelle Cedars (UCSF)

Breast Cancer

• This session will cover recent advancements in molecular pathology that have led to a new understanding of existing cancer classification systems.
• Eleanor Harris (Case Western), George Sledge (Stanford), and Barbara Cohn (Public Health Institute)

In addition, there are a couple of sessions that focus on minority health in genomics research:
The Medical Research Gender Gap, with chair Anula Jayasuriya (EXXclaim Capital), Suzanne Steinbaum (American Heart Association), Hadine Joffe (Bigham Women’s Hospital), and Marcia Stefanick (Stanford)

• This session will review the needs and progress being made to correct the issue of the predominantly white male overrepresentation in existing medical data sets to fulfill the promise of precision medicine for all.

Preventing Global Disparities in Genomic Healthcare, with chair Nadeem Sawar (Eisai Inc.), Amer Haider (Entrepreneur/Early Investor), and Alicia Martin (Broad Institute)

• The vast majority of available genomic data is from participants that are of white, European ancestry, and therefore represents a fraction of the world’s population. Continued disproportionate advances in genome science will exacerbate global healthcare disparities in several ways. This session will address how coordinated, multi-sector solutions could address and preempt such disparities to ensure the promise of precision medicine is realized globally.

Register to PMWC Jan. 21-24 in Silicon Valley by November 27 to take advantage of the current favorable rate!