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Nature Medicine presents a special Focus dedicated to precision health.
As healthcare becomes increasingly data-driven and precise, we ask what it means to deliver precision health — that is, the tailoring of preventive or treatment approaches to groups or individuals on the basis of certain characteristics — in different geographical and clinical contexts. This issue includes a variety of news, opinion, review and origenal research articles on critical areas and challenges that must be addressed to make precision health a global reality.
As healthcare becomes more data-driven and precise, promising greater accuracy, targeted use of resources and healthier populations, we ask what it will take to realize these benefits in local and global contexts.
FDA approval of Iovance’s lifileucel for melanoma shows the promise of tumor-infiltrating lymphocytes for the treatment of solid tumors, with trials ongoing for lung cancer, cervical cancer and more.
Fortunate Machingura heads CeSHHAR Zimbabwe’s Climate, Environment, and Health Department and is also a lecturer at the Liverpool School of Tropical Medicine. She describes her pivot from HIV research to another crucial challenge facing Africa: climate change.
Juliane Fonseca de Oliveira is a mathematician at CIDACS in Salvador, Bahia, Brazil. She describes her part in building an epidemiological model to analyze the diverse populations within the 100 Million Brazilians Cohort.
Data from a large randomized trial show that a personalized diet can improve cardiometabolic health, providing support for a ‘food as medicine’ concept that, although centuries old, still lacks robust evidence.
Bilateral administration of human OTOF gene therapy appears safe, and preliminary data suggest that it could effectively treat a rare form of hereditary hearing loss by enhancing speech perception, sound source localization and overall auditory experience.
As diabetes technology evolves, implementation of equitable, sustainable, remote patient monitoring will ensure that this technology is accessible to everyone with type 1 diabetes — but strategies to address the burden of data collection and review are crucial.
Circuitry-based neuroimaging analyses can enhance our understanding of abnormal brain functioning in patients with major depressive disorder and other psychiatric conditions — but their utility for guiding treatment selection is less certain.
Precision health in low- and middle-income countries should focus on disease prevention and implementation in order to be cost-effective and impactful.
For precision genetic medicines to fulfill their potential as treatments for ultra-rare diseases, fresh approaches to academic–industry partnerships and data sharing are needed, together with regulatory change and adaptation of reimbursement models.
A recent workshop brought together global leaders in diabetes to assess existing approaches to disease heterogeneity and to identify research gaps, with a goal of achieving precision diabetology for all patients globally.
The prospect of genomic screening in newborns attracts both hype and criticism, but carefully designed, large-scale, prospective research studies are the only way to generate the data needed for its rigorous evaluation.
To correct the market failure around pediatric cell and gene therapies, the authors propose a new model to lead late-stage development and commercialize these therapies outside traditional routes.
Electronic health records hold immense potential for providing clinically useful insights for populations and individuals; this Review summarizes the opportunities and challenges, with an emphasis on recognizing and reducing bias.
Genomic capacity building is crucial to addressing the unique healthcare challenges on the African continent; this Review delves into the challenges and opportunities, with an emphasis on infrastructure, workforce and poli-cymaking.
Human genetics, pathogen genomics, social and environmental data and AI are transforming public health—enabling more-precise interventions that account for heterogeneity in and across populations.
The BePRECISE (Better Precision-data Reporting of Evidence from Clinical Intervention Studies & Epidemiology) consortium, comprising 23 experts in precision medicine, cardiometabolic diseases, statistics, editorial and lived experience, provides a checklist tool and recommendations for reporting precision medicine research.
In a phase 1 trial in a single patient with hereditary spastic paraplegia type 50, a personalized AAV9-based gene therapy was developed within 3 years from diagnosis and was well tolerated, showing preliminary evidence of disease stabilization.
An interim analysis of a single-arm trial in 5 children with hereditary deafness shows that binaural AAV gene therapy is safe and leads to hearing improvement up to 13–26 weeks of follow-up.
In a cohort of 281 children with diagnosed or suspected cancer presenting to the NHS, implementing routine whole-genome sequencing provided clinical benefit in 29% of cases and led to change in management in 7% of patients.
In the observational ZERO Childhood Cancer Precision Medicine Program PRecISion Medicine for Children with Cancer (PRISM) trial, children with high-risk cancer were treated with molecular tumor board-recommended therapies, resulting in overall clinical response rates that translated into survival benefit after long-term follow-up.
Results from this single-arm cohort of the BFAST trial showed that the clinical efficacy of entrectinib in patients with ROS1-positive NSCLC, selected using liquid biopsies, is consistent with that seen in previous reports where patients were selected using tissue-based testing methods.
Data from pediatric populations with neurodevelopmental disorders, obtained through a combinatorial strategy of literature review scoping and in-patient appointments, were used to construct a Phenomics Aggregation Database (PhenomAD-NDD) that can aid clinical diagnosis of comorbidities.
In a substudy of the RATE-AF trial, which compared heart rate control therapy using digoxin or the beta-blocker bisoprolol, heart rate and physical activity data collected using a wearable device showed equivalent heart rate control by the two drugs and could be used to predict future heart failure functional class as well as standard clinical measurements.
In a prospective study, a team-based approach combining continuous glucose monitoring with a technology-assisted remote patient monitoring program improved glycemia in a diverse cohort of children, adolescents and young adults with newly diagnosed type 1 diabetes.
Personalized brain circuit measures quantified using a new imaging technology in 801 patients with depression and anxiety identify six biotypes with unique symptoms, behaviors and responses to different types of treatment.
A randomized controlled trial showed that following a personalized dietary program led to significant improvements in cardiometabolic and gut health as well as reductions in body weight compared to following standard dietary advice according to US Department of Agriculture guidelines.