By Melissa Laitner, PhD, MPH, SWHR Director of Science Policy
In 2020, SWHR is bringing attention to the need for advances in diagnostic and screening tests across a variety of diseases and conditions to improve the health of women. In today’s blog, we profile recent innovations in screening and diagnosis that are moving the women’s health field forward.
Screening and diagnostic testing are critical to preventive health care and disease treatment. For women, who historically have been underrepresented in scientific research, some of these tests are woefully outdated or nonexistent, resulting in uncertainties about their disease risk and difficulty with diagnosis.
For example, for women confronting the possibility of an ovarian cancer diagnosis, certain diagnostic tests have not been modernized since the 1980s, leading to the possibility of surgery to definitively identify the presence of disease. Other patients — such as those with endometriosis — face long waits for diagnosis and treatment due to a lack of noninvasive diagnostics.
However, research around screening and diagnostics for women’s health conditions has shown recent signs of progress. New developments in cancer, pregnancy, and reproductive health may signal the beginning of an exciting new era of screening and diagnostic testing for women.
Cancer
Cervical cancer is viewed as highly preventable. Within developed countries, women have access to a vaccine for human papillomavirus (HPV), the predominant cause of cervical cancer, as well as valid and reliable screening tests for diagnosis. However, in less developed countries, women have more difficulty accessing these expensive methods of prevention and screening for HPV. Therefore, the large majority of cervical cancer — 85% of total cases — occurs in less developed areas of the globe.
New, more affordable methods of HPV and cervical cancer detection could lower global rates of this disease. One novel screening method being studied uses artificial intelligence (AI). This method relies on noninvasive visual examination and digital imaging of the cervix.
Results of initial research suggest the AI algorithm outperformed every traditional Pap test or test for HPV. The algorithm was particularly effective at identifying abnormal cervical cells, leading to improved cancer diagnoses. Importantly, this technique is more affordable than traditional screening methods, making it a great option for less-developed countries.
Pregnancy
Premature birth — or delivering before 37 weeks of pregnancy — is a scary outcome for women to consider. Babies born prematurely are at risk for a variety of short- and long-term complications. Causes of premature birth are difficult to determine, and it is challenging to reliably predict.
However, research in this area has led to promising insights. One study demonstrated that a new blood test in development can predict, with 75-80% accuracy, the likelihood of premature delivery in at-risk women. Another study examined 25 serum biomarkers to identify women at risk for delivering early.
These types of advances could ultimately lead to better methods of identifying mothers who may deliver early, as well as targeted methods of prevention and interventions for patients in need.
Reproductive Health
Endometriosis is a chronic and often-painful condition that occurs when tissue similar to what lines the inside of the uterus grows elsewhere in the body. Despite the fact that endometriosis affects about 10% of reproductive-age women, there is a notable lack of understanding about the cause of the disease and getting an official diagnosis typically requires surgery. Due in part to these factors, women often do not receive a diagnosis for an average of seven years after they first experience symptoms.
Fortunately, researchers have been working to develop noninvasive diagnostic methods in an effort to speed access to diagnosis and treatment for women with endometriosis. One new type of test has been shown to potentially confirm an endometriosis diagnosis by measuring certain small molecules found in saliva samples. Another test in development utilizes menstrual blood to help scientists identify evidence of disease. Finding a noninvasive test for a condition previously only diagnosed via surgery would be groundbreaking for the estimated 200 million women and teens dealing with endometriosis worldwide.
On the Horizon
Although the innovative methods of screening and diagnostics mentioned here are still in early stages, it is exciting to see these efforts to improve preventive care and treatment for women across a variety of health conditions. Ultimately these tools will allow women to make better, more informed decisions about their health. Still, much work remains to confirm results from early pilot studies and to get promising new technologies to the market.
There exists a multitude of unmet needs for screening and diagnostics within the field of women’s health. Nevertheless, it is clear that advancing innovation in these areas could lead to amazing leaps forward for the health of women.
SWHR’s genetic screening and diagnostic testing blog series is supported by a grant from Myriad Women’s Health. SWHR maintains editorial control and independence over blog content.