Experts unveil first comprehensive guidelines for precision medicine research

University of Virginia Health SystemJul 22 2024

A University of Virginia School of Medicine scientist and other top experts from around the world have developed the first comprehensive guidelines for reporting cutting-edge "precision medicine" research in a bid to improve patient care and health equity for people everywhere.

Precision medicine aims to tailor treatments to individual patients to get the best possible outcomes. It does this by considering many different factors specific to the patient, such as the patient's genetics, environment, lifestyle and more. But until now there have been no standardized guidelines for reporting precision medicine research, hindering progress.

The inaugural reporting guidelines have been published in the leading clinical medicine journal, Nature Medicine. The paper from the BePRECISE (Better Precision-data Reporting of Evidence from Clinical Intervention Studies & Epidemiology) consortium details comprehensive guidelines aimed at improving the accuracy, safety and health equity in precision medicine. 

One of the key architects of the plan was UVA's Stephen S. Rich, PhD, of the Department of Public Health Sciences and the Center for Public Health Genomics. 

Precision medicine is becoming reality in both research and in clinical practice, yet there have not been guidelines on how research in precision medicine is reported. Without standards of reporting, it is difficult to determine the quality of the evidence from research and whether it really is fundamentally sound and ready for translation into the clinic. Ultimately, our work in BePRECISE can be used by the editors of medical journals and reviewers of research papers to guide the evaluation of submitted research and whether the key information is provided to clinical investigators reading the research and determining whether the work can improve the health of people through application of precision medicine approaches."

Stephen S. Rich, PhD, Department of Public Health Sciences and the Center for Public Health Genomics, UVA Health

More precise precision medicine

The BePRECISE consortium included 23 global experts in precision medicine, cardiometabolic diseases, statistics, editorial and lived experience. The researchers created the new guidelines after conducting a sweeping review of the existing precision medicine research and identifying ways to improve how that research is reported.

Guidelines committee Chair Paul Franks, PhD, from Sweden's Lund University, noted the challenges that precision medicine has faced: "Precision medicine seeks to tailor healthcare to individual characteristics, accounting for the heterogeneous nature of diseases such as diabetes, cardiovascular disease, cancers, mental health disorders, musculoskeletal disorders and infectious diseases," he said. "However, this heterogeneity, combined with varied research methodologies, has created challenges in comparing studies and implementing findings across the field."

The new BePRECISE Checklist includes 23 items organized into five sections corresponding to typical sections of a scientific publication. A dedicated section on health equity emphasizes the importance of including underrepresented and underserved communities in precision medicine research, as well as patient and public involvement and engagement. "We believe that precision medicine research should place emphasis on the development of solutions for people in greatest need, regardless of who or where they are," the authors write.

Practical recommendations

The checklist offers practical recommendations that researchers can implement immediately. For example, the BePRECISE consortium members found that only 17% of the papers they reviewed included "precision medicine" in the paper's title or in the abstract summarizing the work. That simple addition could make it much easier for doctors and researchers to find relevant information on the latest precision medicine findings.

Other recommendations include:

• Using appropriate population descriptors such as ancestry, geographic and sociodemographic characteristics of all study participants, particularly those in underrepresented groups;
• describing aspects of the study design relevant to precision medicine;
• reporting statistical tests and results for subgroup comparisons; and
• describing the precision medicine approach that could potentially be applied in clinical practice.

The BePRECISE consortium is encouraging adoption of the new guidelines by researchers, reviewers, funders and editors to promote and expedite the equitable clinical implementation of precision medicine. The checklist is expected to enhance the quality and comparability of precision medicine studies, fostering advancements in healthcare for all.

"Ultimately, precision medicine promises to provide the most appropriate ways to prevent, diagnose, treat and predict outcomes of a disease process with cost-effective measures," Rich said. "These approaches need to be available and applicable to all people of need globally."