Advances in Diagnostics for Faster, More Accurate Diagnosis

Written by Ariella Tal, FemHealth Fellow, FemHealth Insights

Diagnostics: A Path to Personalized Care:

In the women’s health sphere, a quick diagnosis can dramatically influence the course of many health issues. Yet many female-specific conditions, from endometriosis to menopause, entail a lengthy diagnosis process riddled with many unanswered questions. However, advancements in diagnostic technologies offer hope for a future healthcare system that is both efficient and definitive.

What are Diagnostics?

Diagnostics are a pivotal aspect of healthcare, helping physicians prevent, detect, measure, diagnose, and treat medical conditions. They enable a timely understanding of various conditions, promoting precision medicine and personalized care. However, many diagnostic tests were developed based on clinical trials that included only male subjects, leading to less effective tools for female patients. Such as a lack of diagnostics for female-specific conditions or tests that measure markers for a condition that are only elevated in male patients. 

Common diagnostics in women’s health include a range of screenings and tests, from cervical cancer screenings to bone density tests (DEXA scans) for osteoporosis. Today, research and development are underway to create innovative diagnostics prioritizing female health conditions.

A History of Misdiagnosis:

Healthcare systems are plagued with systemic gender biases, including the underrepresentation of female subjects in research, educational gaps in medical training, and low funding for women’s health research. These biases result in reduced diagnostic accuracy, often leading medical professionals to misdiagnose women’s pain as psychological. For example, in diagnosing coronary heart disease, studies have confirmed that 31.3% of middle-aged women were misdiagnosed with a mental illness compared to 15.6% of middle-aged men. Heart disease is not the only time misdiagnosis is found, women and ethnic minorities are up to 30% more likely than a white man to be misdiagnosed. These systemic biases not only prevent accurate diagnosis but also result in poorer health outcomes and unnecessary suffering.

The Consequences of Misdiagnosis:

Misdiagnosis and delayed diagnosis can have harmful impacts on an individual and systemic level. In a survey of over 6,000 physicians, 64% reported that 10% of the misdiagnoses they have experienced led to direct patient harm. An inaccurate diagnosis delays the incorporation of proper treatments, meaning current symptoms will continue and potentially worsen. This can have negative psychological impacts such as anxiety and confusion when a treatment does not work, and create an overall distrust of healthcare professionals. There are also financial repercussions caused by misdiagnosis, as patients pay for treatments that are ineffective for their condition. Beyond an individual level, misdiagnosis has a greater economic burden, costing the United States an estimated $760 to $935 billion dollars in wasted healthcare spending. 

Misdiagnosis is a key healthcare issue that must be addressed not only for its impacts on a patient's well-being but also for the healthcare system as a whole. Diagnostic tools have the potential to combat the misdiagnosis of women and empower physicians in making informed medical decisions and recommendations, removing bias from the equation. 

Revolutionizing Endometriosis Diagnosis:

Endometriosis, a disease that impacts an estimated 10% of women and girls, is often accompanied by a long diagnosis period, averaging up to 11 years. This delayed diagnosis results in untreated inflammation that can lead to chronic pain, heightened anxiety and depression, infertility, productivity loss, and other physical and emotional ailments.

One contributor to this lengthy diagnosis process is the normalization of female discomfort. Many women who experience the uncomfortable symptoms of endometriosis, such as pelvic pain and heavy menstrual bleeding, are often told that these are a normal part of being a woman. This normalization results in women underreporting their symptoms, and can also cause physicians to refrain from searching for the root cause of this pain.

Currently, the gold standard for diagnosing endometriosis is an invasive surgery called laparoscopy. This procedure has many barriers, including accessibility issues such as financial constraints and a lack of skilled providers. Laparoscopy has limitations since it requires visual identification of lesions, which can make confirmation challenging depending on lesion depth and variation in appearance.

Luckily, many FemTech companies are working on diagnostic technologies to alleviate this delay and potentially reduce the dependence on laparoscopy. Hera Biotech is developing a non-surgical, tissue-based test for diagnosis and staging of endometriosis. EndoCure is leveraging AI technologies to design a robotic AI-powered ultrasound device for diagnosing endometriosis. Ziwig has created the first salivary diagnostic test for endometriosis, this test analyzes salivary microRNA using Next Generation Sequencing and AI. DotLab is engineering a blood test that detects biomarkers of endometriosis. These global companies are at the forefront of developing diagnostic tools for endometriosis, employing diverse technologies. Diagnostics have the potential to disrupt the diagnosis delay and help millions of those suffering from chronic pain and comorbidities associated with this disease.

Listen to our episode with DotLab:

Transforming Menopausal Health:

By 2050, approximately 1.6 billion women worldwide are expected to have reached menopause or be postmenopausal. Uncomfortable side effects including hot flashes, vaginal dryness, fatigue, mood changes, and many more often accompany this life stage. 

At present, there are no tests to confirm menopause or perimenopause. Diagnosis relies on factors such as age, menstrual history, and hormone levels, to enable healthcare professionals to give their opinion. FemTech companies empower women to demand nothing less than 100% certainty in their diagnosis. Menoage is developing the first at-home blood test to identify perimenopause and menopause accurately. Diagnostic tools that allow for verification that someone has begun the perimenopause transition would help women seek proper treatment for the side effects they experience. Effectively working towards a future that no longer normalizes female suffering caused by menopausal changes.

From Benchtop to Patient:

As novel diagnostic technologies continue to develop, the challenge of implementation into healthcare settings presents itself. Addressing physician hesitancy to stray from traditional methods will be crucial, but this can be combated with strong evidence of the tool’s effectiveness and reliability. Navigating the complexities of coding and billing will also be essential in ensuring integration. New devices may not have established billing codes, potentially leading to difficulties in proper billing for using the new diagnostic tool. Overcoming these obstacles is possible through early strategizing and strong support from interdisciplinary teams that address precise scientific practices and long-term planning for clinical adoption. 

Conclusion:

Advancements in diagnostics have the potential to reimagine the healthcare system and eliminate implicit gender bias. These innovations can prevent adverse health outcomes associated with a prolonged diagnosis. Advocating for the importance of diagnostics will be crucial in ensuring a general acceptance of these technologies and progress toward gender-inclusive healthcare. 

About the Author:

Ariella Tal is a FemHealth Fellow at FemHealth Insights, soon to pursue her Master of Public Health at UNC Chapel Hill. Passionate about advancing gender health equity, Ariella strives to develop innovative solutions across sectors to improve health outcomes. She aims to create a healthier, more equitable future for all.