March 9, 2020

How Options for Disease Screening and Diagnosis Can Affect Women’s Health

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 discuss what women need to know about screening and diagnostic testing.

Beginning at age 50, the United States Preventative Services Task Force (USPSTF) recommends women undergo mammograms every two years to screen for breast cancer. Although the majority of mammograms will reveal nothing concerning, about 10% of women will need to undergo further testing, such as a diagnostic mammogram, a breast ultrasound, a breast MRI, or ultimately even a biopsy. Of these women, about 5% will be diagnosed with breast cancer.

This path to breast cancer diagnosis illustrates the difference between screening and diagnostic testing. Screening tests like mammograms are a type of preventative care for individuals who show no signs of the disease. Some screening tests are performed across a wide patient population, such as a blood pressure or cholesterol screen, while others are done only in subgroups of people deemed to be at higher risk.

Diagnostic testing, on the other hand, is used to confirm the presence or absence of a disease. For many cancers, a biopsy is used as a diagnostic test to confirm evidence of disease for patients who have already completed initial screening tests.

The decision of who is screened for what disease — and how these diseases are diagnosed — is at times very straightforward. For example, USPSTF recommends that all adults aged 40 to 70 years who are either overweight or obese undergo blood glucose screening to determine diabetes risk. Evidence suggests that screening for diabetes is relatively low-risk and low-cost, especially as compared to the ultimate physical and financial cost the diagnosis may have on patients and on our health care system.

For other diseases, however, screening can be less clear cut. The USPSTF recommends screening for genetic mutations associated with higher cancer risk only in women who have a personal or family medical history of certain cancers. For women who do not have a history of the diseases, USPSTF recommends against this screening, concluding that the consequences of screening — such as the anxiety and health costs associated with potential false positives — may outweigh the benefits.

Other types of screening tests are left to the discretion of patient and health care provider. Prenatal genetic screening, which assesses the likelihood of a fetus having certain heritable disorders, and carrier screening, which assesses whether women and their partners carry genes that may place their future children at risk for certain disorders, are recommended for certain subgroups of women (for example, based on age, ethnicity, or family history). However, at times, providers and patients may feel that certain prenatal and carrier screening tests may be useful even when recommendations are less explicit. In situations like these, women need access to resources that can help them make informed decisions for themselves and their families.

For patients seeking comprehensive preventative care and screening, the best choice is to discuss with a health care provider what screenings are recommended based on your age, race or ethnicity, and lifestyle. It is also important to share your full family medical history with your provider, so they can accurately advise you on appropriate disease screening or genetic testing if you are at higher risk. They may also be able to refer you to a genetic counselor to discuss these issues at greater length.

Patients should ask questions about the screening and diagnostic tests their provider orders, including the cost of the tests, risks or benefits of each procedure, and what next steps might be considered once you receive the results. For women — who make not only their own health care decisions, but often the bulk of the health care decisions for their families — being an informed health care consumer is a priority. Understanding the complicated world of screening and diagnostic testing can help patients everywhere have a full grasp of the possibilities for care, whether preventative or diagnostic.

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.