The advent of “precision medicine” brings with it the promise of tailored healthcare solutions that not only cater to individual needs but also have the potential to lower healthcare expenses. Recent research underscores how prenatal screening can fulfill both of these goals, while also illuminating the critical need for appropriate matching of precision medicine to patients for effective cost management.
The study focuses on cfDNA screenings, a form of blood analysis proficient in detecting conditions linked to chromosomal abnormalities, such as Down Syndrome. For many pregnant individuals, these cfDNA screenings serve as a non-invasive alternative to more invasive procedures like amniocentesis and chorionic villus sampling (CVS), which can pose a risk of miscarriage.
In assessing the optimal use of cfDNA tests, researchers arrived at a compelling revelation.
“Our findings indicate that the greatest value derived from cfDNA testing emerges from individuals classified as high-risk, yet not excessively so,” notes Amy Finkelstein, an economist at MIT and co-author of the recently published study.
The research paper titled “Targeting Precision Medicine: Evidence from Prenatal Screening” is featured in the Journal of Political Economy. Co-authors include Peter Conner, an associate professor and senior consultant at Karolinska University Hospital in Sweden; Liran Einav, a professor of economics at Stanford University; Finkelstein, the John and Jennie S. MacDonald Professor of Economics at MIT; and Petra Persson, an assistant professor at Stanford University.
“There is considerable optimism surrounding precision medicine,” Persson states. “We can harness innovative techniques to customize healthcare interventions for patients, reflecting great promise. However, this study emphasizes that personalization brings significant costs that we, as a society, need to address while implementing these advanced technologies.”
Examining the Economic Benefits for “Middle-Risk” Patients
To conduct this study, the research team analyzed the rollout of cfDNA screening in Sweden from 2011 to 2019, utilizing data from over 230,000 pregnancies. A crucial observation was the variability in healthcare coverage for cfDNA screenings across different regions in Sweden, particularly for patients not already opting for invasive tests. Some regions offered broad coverage for all patients with a moderate assessed risk or greater, while others limited coverage to only a select group with elevated risk.
In areas with comprehensive cfDNA test coverage, the testing was accessed by 86% of patients, whereas in more restricted regions, only about 33% utilized the screenings. Importantly, both approaches led to a significant decrease in the use of invasive testing, bringing it down to around 5%. While cfDNA screenings provide valuable insights, they are not entirely conclusive, prompting some expecting mothers to consider follow-up invasive procedures.
Despite the similar reductions in invasive testing rates, the financial implications are markedly different. The study estimates that widespread cfDNA test coverage could increase overall medical costs by approximately $250 per pregnancy, while targeted coverage would result in a cost savings of about $89 per patient.
The overarching trends are unmistakable: Pregnant women at the highest risk of chromosomal abnormalities are likely to pursue invasive testing regardless of cfDNA screening results. Conversely, those at virtually no risk might forgo cfDNA tests altogether. For those in the middle risk bracket, cfDNA screenings prove to be immensely valuable, mitigating the necessity for invasive procedures. A more targeted approach in administering cfDNA tests also helps reduce overall healthcare expenses.
“Individuals categorized as very high-risk typically opt for invasive testing, which is definitive, irrespective of cfDNA screening,” Finkelstein explains. “Conversely, providing coverage for cfDNA testing generates substantial increases in its usage among middle-risk patients, which in turn leads to a notable decrease in the use of riskier and more expensive invasive testing.”
The Quest for Precision
The study’s findings prompt a broader discussion regarding the financial implications of precision medicine. It’s clear that any form of precision medicine tends to incur additional healthcare costs, making it vital to establish precise criteria for who should benefit from these advancements.
“The appeal of precision medicine lies in its ability to target those who genuinely require it, thereby avoiding unnecessary and costly diagnostic procedures for those who don’t,” Finkelstein notes. “However, this advancement requires careful discernment to determine the right candidates for different types of precision medicine.”
This illustrates the need for a judicious approach in healthcare, where technology is used strategically rather than indiscriminately. Effective precision medicine hinges on sound policy analysis in conjunction with technological innovations.
“Often, assessing the impact of medical technology merely involves determining if it raises or lowers costs or improves patient health,” Persson observes. “Our research highlights that outcomes are not solely determined by technology but substantially influenced by policy, which ultimately affects patient welfare. This connection is evident in our findings.”
In essence, the equivalent patient outcomes associated with refined cfDNA testing indicate a method for more focused diagnostic approaches. In numerous clinical scenarios, identifying the subset of patients most likely to gain actionable insights from a technology presents an exciting opportunity.
“The value of information is most pronounced when patients are in the gray area—neither obviously suited for, nor unsuitable for, the next treatment,” Finkelstein states. “It’s this nuanced aspect of information value that is particularly compelling.”
This study received support from the U.S. National Science Foundation.
Photo credit & article inspired by: Massachusetts Institute of Technology
