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Why genetic testing for women must become more accessible and affordable


read time: 4 minutes


Management & Operations

Gender bias in healthcare access is not news, but its prevalence continues. The Journal of the American Heart Association published a study in late 2022 that showed women who visited emergency departments with chest pain still waited 29 percent longer than men to be evaluated for possible heart attacks.1  Other studies show women with chest pain and related symptoms to be twice as likely to be diagnosed with a mental illness compared with men who had the same symptoms.2

This bias extends to the cost of care as well. A Kaiser Family Foundation study revealed that women pay more for healthcare as a percentage of their income, especially during their reproductive years, and are more likely to skip a recommended treatment or test due to actual or perceived cost even though they are insured at higher rates than men.3  

Although women are becoming more comfortable with raising the topic of genetic testing, health systems, hospitals, payers, and practitioners still have a long way to go to grapple with the layers of friction we inadvertently introduce into the genetic testing process. That friction may involve access, payment, or understanding the results of a genetic test and having someone to talk to about it. Yet it’s our duty and obligation as parts of the 21st century healthcare system to work tirelessly to erase those barriers. 

From preventive to prenatal
The opportunity to identify women at risk using genetic testing is important at any point in their lives, whether we are screening for colon cancer or blood diseases. If we can catch these conditions earlier than we used to, we can provide women with better and healthier ways to decrease the possibility of a negative outcome.

Consider the alternative. We used to identify people when they showed up with an advanced disease, an advanced lesion, or an advanced mass. The outcomes were usually poor and the cost very high to the patient, the family, and the health system. The point of preventive care is to ensure that women have the information they need to be better champions of their health and make better decisions.

With prenatal genetic testing, women are naturally more likely to carry the cost burden. Yet these burdens should be shared because the responsibility of human reproduction shouldn’t be relegated to 1 sex or the other.

An excellent example is noninvasive prenatal testing for Trisomy 21, 18, and 13. Potential outcomes of extra chromosomes at these sites may include Down syndrome, Edwards’ syndrome, or Patau’s syndrome. Today we have true clarity around what these results mean in terms of the baby’s outcome, which in turn gives parents the ability to make informed decisions with their clinicians about the course they will take. Cost or access should not be barriers to critical tests like these.

Relevance and the eye of the beholder
The journey to value-based care requires us to put systems in place that help women make healthier choices. And that means being sensitive to what this means to each woman as an individual.

Take the idea of relevance. Is a specific genetic test relevant or will the results simply create anxiety because they’re not immediately actionable? As always, it depends. Take breast cancer. Before being screened, it’s important to ask: has the patient seen it in their family? If 1 or both of a patient’s parents or someone else in their immediate family has suffered from breast cancer, it becomes far more relevant to know the results of a genetic test.  

Relevance takes on broader resonance as we see the convergence of the diagnostic test and the therapeutic -intervention. What wasn’t actionable 10 years ago is often actionable now and will be more actionable a decade into the future.  

Innovations in genetic testing are also making many tests more relevant. Some of the biggest steps forward I’ve seen in genetic testing for women have been in noninvasive prenatal screening, breast cancer screening, and prenatal carrier screening based on cell-free DNA. The risk stratification algorithms we can use right now for women at risk for breast cancer have advanced by leaps and bounds over the last several years. With cell-free DNA, we see sensitivity and specificity levels into the 99% range, which represents a significant improvement in relevance and a strong argument for their use as a predictive indicator.

Finding a women’s health & genetic testing partner
As your health system considers forming a new relationship with a women’s genetic testing partner or expanding a current one, here are 5 criteria to consider. 

  1. Medical and genetic expertise. Your partner’s physicians, pathologists, and laboratorians should be available to consult with your providers about the meaning and interpretation of each test, as well as the limits of sensitivity and the assays they’re using. If your partner can’t find the answers internally, they should have academic research partners that they’re collaborating with across the country or around the world.
  2. A future focus on the industry. This means being attentive to individual patients and their providers, not only about what is actionable and relevant now, but also in the future. This industry-level view requires more than just a machine that can process blood or a vendor who can only offer 3 or 4 tests. It’s often found in a deep curiosity about the evolving technology, the science, and the medicine as well.
  3. Industry presence and network. The MDs and PhDs at your partner should be communicating with each other, presenting at conferences, and participating in journal clubs and societies. The right esprit de corps takes root in a place where they’re always asking questions of themselves and each other.
  4. National breadth and depth. Most health systems would likely prefer to have 1 or a select few lab partners versus 20 contracts with 20 different labs who are offering the same kind of testing. A broader relationship also means you can track each patient longitudinally with an integrated healthcare record. If an obstetric patient moves away from the hospital and into another part of the healthcare network, having additional patient access points close by can be invaluable.
  5. A commitment to systemness. Any genetic testing partner should be focused on reducing clinical care variation across the care continuum. That’s hard for a health system to do if they are working with 20 or 30 different labs. No single partner offers everything, but a foundational partner should be able to offer a full range of testing, as well as the expertise to support the system’s journey to reducing clinical care variation. 

Addressing healthcare disparities in access must begin with an acknowledgement that these disparities are real. Historically women have been disadvantaged by our healthcare system. It’s going to take courage, leadership, and energy to make practical, affordable genetic testing available for all women. Until we get that right, many powerful opportunities for value-based care will continue to lie beyond our reach. 

Page Published: January 11, 2023
  1.   Banco D, Chang J, Talmor N, et al. Sex and race differences in the evaluation and treatment of young adults presenting to the emergency department with chest pain. Journal of the American Heart Association. 2022;11(10). doi:10.1161/jaha.121.024199
  2.   Maserejian N, Link C, Lutfey K, et al. Disparities in physicians' interpretations of heart disease symptoms by patient gender: Results of a video vignette factorial experiment. Journal of Women's Health. 2009;18(10):1661-1667. doi:10.1089/jwh.2008.1007  
  3.   Kaiser Family Foundation. Visualizing Health Policy: Barriers to Care Experienced by Women in the United States. June 11, 2019. Accessed December 14, 2022.

About the author

Dr Damian Alagia

Chief Hospital and Health Systems - Senior Medical Director Adx / Women’s Health

Quest Diagnostics 

Dr Alagia is the Chief Clinical Officer for Health Systems as well as the senior medical director for Advanced Diagnostics and Women’s Health for Quest Diagnostics. Prior to coming to Quest Diagnostics, he served in progressively larger senior management positions in large non-profit health systems, in venture capital-backed portfolio companies, and in academic medical centers.  He is an experienced innovative and entrepreneurial healthcare executive as well as an accomplished clinician, surgeon, and educator. Dr Alagia is a board-certified obstetrician and gynecologist who is both a fellow of the American College of Surgeons and the American College of Obstetrics and Gynecology.  He is a graduate of Georgetown University College and Medical School and holds masters’ degrees in business and finance from Johns Hopkins University.