Does precision health screening wear Prada?

By Jingmei Li, PhD

In 2015, I nearly died.

The symptoms were relatively mild. Persistent shortness of breath, insatiable tiredness. At times it felt like there was a monkey in my heart skipping beats and thumping away like a heavy metal drummer. Such conditions were not surprising to a postdoc perpetually fuelled by a combination of caffeine and desperation.

I was told I did not meet the stereotype of a heart disease patient. I wasn’t old, Caucasian, overweight, or male.

In a feeble attempt to stop the commotion in my chest, I hesitantly visited a doctor anyway. Standard examinations. Normal blood oxygen levels. Unremarkable ECG results. On the surface, there was nothing obviously wrong with me.

But the good doctor looked me in the eyes and asked, “You’ve been feeling these symptoms for a few months now. Why are you here today?”

“Six months ago I was running half-marathons regularly. Yesterday, an old lady with a wheeled mobility aid whizzed past and left me feeling like an invisible force was holding me back. It felt like I was moving in slow-motion and gasping for air.”

The personal account of my recent health changed everything.

“Your readings are still within normal range, but they are borderline normal. I am referring you to the cardiac unit. Do you need an ambulance?”

I made it to the emergency room with the referral letter on public transport. Within the hour, X-rays and CT scans showed multiple blood clots in my lungs. Pulmonary embolism (PE), they were. One in three patients not diagnosed and treated in time don’t survive¹.

In retrospect, although I don’t share many characteristics with a typical PE patient, my individual-level risk for the silent killer was high. Smoking, estrogen-containing birth control pills, and an above-average genetic risk are all risk factors that elevated my odds of developing the disease. Because these are personal risk factors that are not often known by others, it is easy to miss the signs.

Precision health screening² uses advanced technologies and data analysis to provide personalized health recommendations based on an individual’s unique genetic makeup, lifestyle, and environmental factors.

It considers everyone as an individual when measuring risks. By recognizing each person is unique, precision health screening can help identify individuals at a higher risk for certain diseases or conditions, regardless of how they do and do not fit diseased stereotypes. This knowledge is empowering and gives those at high risk a choice to take preventive measures and protect their well-being.

Personal risk assessment, however, is not a new concept. We find out information about ourselves from basic health screenings. Abnormal blood pressure, cholesterol, and sugar levels are risk indicators that alert us to make lifestyle modifications or take medications to control our risks for cardiovascular diseases and diabetes.

Is there an equivalent of these familiar screening tests for other chronic diseases, such as cancer? For women, the Pap test (also known as Pap smear) is aimed at detecting pre-cancerous cell changes on the cervix that have the potential to develop into cervical cancer if left untreated. Mammography or X-rays of the breast can detect breast cancers that are so small that they cannot be felt. Early-stage tumours are found early are the most treatable and least fatal. According to the American Cancer Society, almost all women (approximately 99 in 100) with early-stage localized breast cancers survive for at least five years after diagnosis.

As a researcher whose primary interest is tackling the public health burden of breast cancer, I see an opportunity for the results of decades of work being implemented in breast cancer screening.

For mammography screening to be effective at saving lives from the disease at the population level, at least 70% of the target group eligible to screen must adhere to the screening intervals for at least ten years³. In many countries in Asia, there are no organized nationwide mammography screening programs⁴. In those that do, only ~40% of women eligible to get a mammogram reported to have attended a screening in the past two years⁵. In Singapore, as many as half of the women who did screen do not return for subsequent screens⁶. Furthermore, the current age-based approach which targets women aged 50 and above for mammography screening (where clear recommendations and subsidies are given) will miss ~30% of breast cancers diagnosed among younger women (National Registry of Diseases Office, Singapore). This means current early detection programs will likely not result in a significant reduction in the number of deaths lost to breast cancer on a population level.

Precision health screening using genetic and biologic markers can help to flag healthy individuals at high risk for developing breast cancer in the future and preferentially target them to attend mammography screening. It can also reduce the number of unnecessary medical procedures and treatments, saving time, money, and potential side effects.

Is precision health screening a luxury unattainable for the masses? This fast-developing field is often perceived as the latest costly venture involving the sequencing of entire genomes, identifying abnormalities in DNA, and creating drugs tailored for specific and limited populations. High prices, limited availability, or other barriers to entry may cause disparities between different groups of people, as those who have access to them may have significant advantages over those who do not.

In “The Devil Wears Prada,” Miranda Priestly (played by Meryl Streep) delivers an epic monologue about the fashion industry and the way that the color “cerulean” trickled down from high fashion to everyday consumers.

“OK, I see. You think this has nothing to do with you,” Miranda says coolly. “You go to your closet and you select that lumpy, loose sweater, for instance, because you’re trying to tell the world that you take yourself too seriously to care about what you put on your back, but what you don’t know is that that sweater is not just blue. It’s not turquoise. It’s not lapis. It’s actually cerulean.”

“That blue represents millions of dollars and countless jobs and it’s sort of comical how you think that you’ve made a choice that exempts you from the fashion industry when, in fact, you’re wearing the sweater that was selected for you by the people in this room from a pile of stuff.” The same concept applies to precision health screening being exclusive.

While this tailored approach is not readily equitable now, the road ahead for precision health screening looks promising. In fact, many healthcare providers and governments, including Singapore, China, Korea, Japan, and Thailand, are investing in precision health as a way to improve patient outcomes and reduce overall healthcare costs in the long term⁷.

Ultimately, knowing personal health risks can motivate behaviour change, but it is not always enough to drive change on its own. A revolution is needed to overhaul the perspective of women toward breast cancer screening. Instead of being just a dreaded visit to a clinic for an uncomfortable procedure, it has to be worth the inconvenience and pain. It could be that technology has to be convenient to the point that women can perform imaging using cell phones, or that mammography screening has to be packaged together with familiar services such as pedicures, manicures, or an annual spa day. We may need to make breast cancer screening #insta-mammogram-mable.

Nonetheless, as the impact of precision health screening becomes more evident and the prices of testing and analysis continue to decrease, it is expected that it will be embraced by a wider population.

Hopefully then, cerulean will be just another shade of blue, and life-saving screens can be something women look forward to.

References

1. Belohlavek J, Dytrych V, Linhart A. Pulmonary embolism, part I: Epidemiology, risk factors and risk stratification, pathophysiology, clinical presentation, diagnosis and nonthrombotic pulmonary embolism. Exp Clin Cardiol. Spring 2013;18(2):129-38.
2. Kasztura M, Richard A, Bempong N-E, Loncar D, Flahault A. Cost-effectiveness of precision medicine: a scoping review. International Journal of Public Health. 2019;64(9):1261-1271. doi:10.1007/s00038-019-01298-x
3. Day NE, Williams DRR, Khaw KT. Breast cancer screening programmes: the development of a monitoring and evaluation system. British Journal of Cancer. 1989;59(6):954-958. doi:10.1038/bjc.1989.203
4. Lim YX, Lim ZL, Ho PJ, Li J. Breast Cancer in Asia: Incidence, Mortality, Early Detection, Mammography Programs, and Risk-Based Screening Initiatives. Cancers. 2022;14(17)doi:10.3390/cancers14174218
5. OECD Health Statistics 2017 and EHIS Eurostat database. Screening, survival and mortality for breast cancer. Health at a Glance 2017, OECD Indicators. 2017;http://dx.doi.org/10.1787/888933603963 (Accessed on Apr 10, 2023)
6. Loy EY, Molinar D, Chow KY, Fock C. National Breast Cancer Screening Programme, Singapore: Evaluation of participation and performance indicators. Journal of Medical Screening. 2015;22(4):194-200. doi:10.1177/0969141315589644
7. Prichep E. Precision medicine should be accessible to all. World Economic Forum. 2019;https://www.weforum.org/agenda/2019/05/precision-medicine-should-be-accessible-to-all/ (Accessed on Apr 10, 2023)