1050 hot topic(s) found with the query "Precision medicine "
Precision Medicine—Are We There Yet? A Narrative Review of Precision Medicine’s Applicability in Primary Care
W Evans et al, JPM, April 15, 2024
(Posted: Apr 15, 2024 2PM)
From the abstract: "Precision medicine (PM) has the potential to transform an individual’s health, moving from population-based disease prevention to more personalised management. There is however a tension between the two, with a real risk that this will exacerbate health inequalities and divert funds and attention from basic healthcare requirements leading to worse health outcomes for many. All areas of medicine should consider how this will affect their practice, with PM now strongly encouraged and supported by government initiatives and research funding. In this review, we discuss examples of PM in current practice and its emerging applications in primary care, such as clinical prediction tools that incorporate genomic markers and pharmacogenomic testing. "
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Vaidehi Jobanputra et al. NPJ Genom Med 2024 3 (1) 23
(Posted: Apr 01, 2024 9AM)
From the article: "GS has ushered in a new era in the diagnosis of genetic diseases, offering the potential for improved patient care. Now is the time for collective action to overcome challenges, implement best practices, and ensure that the benefits of GS are realized for all individuals affected by genetic diseases. Indeed, widespread and appropriate utilization of GS is critical for directing the emerging gene editing, gene therapy, and cell-based therapies for rare genetic disorders. Concerted policy, education, guideline, and care pathway efforts will drive significant advancements in precision medicine and improve health outcomes for patients with genetic conditions. "
Genomes in clinical care
O Riess et al, NPJ Genomic Medicine, March 14, 2024
(Posted: Mar 18, 2024 9AM)
From the abstract: "In the era of precision medicine, genome sequencing (GS) has become more affordable and the importance of genomics and multi-omics in clinical care is increasingly being recognized. However, how to scale and effectively implement GS on an institutional level remains a challenge for many. Here, we present Genome First and Ge-Med, two clinical implementation studies focused on identifying the key pillars and processes that are required to make routine GS and predictive genomics a reality in the clinical setting. "
Dozens of precision cancer drugs tested at lower doses to reduce side effects and cut costs.
Sofia Moutinho et al. Nat Med 2024 3
(Posted: Mar 11, 2024 11AM)
From the abstract: "Growing evidence shows that lower doses or shorter treatments of precision cancer therapies could reduce toxicity and save money — but more clinical trials are needed. "
National Rapid Genome Sequencing in Neonatal Intensive Care.
Daphna Marom et al. JAMA Netw Open 2024 2 (2) e240146
(Posted: Feb 27, 2024 9AM)
From the abstract: "Can rapid trio genome sequencing (rtGS) be deployed in a national public health care setting? In this cohort study that included all neonatal intensive care units in Israel, rtGS in 130 neonates suspected of having a genetic disorder revealed a diagnosis in 50% (12 chromosomal and 52 monogenic disorders and 1 uniparental disomy). Immediate precision medicine was offered for 9% of diagnosed participants, and the mean turnaround time for rapid report was 7 days. These findings suggest that clinical rtGS can be implemented in the neonatal acute care setting in a national public health care system. "
Heart Disease Risk Higher with Genetic Variant Plus Even Slightly Elevated Cholesterol
Inside Precision Medicine, February 2, 2023
(Posted: Feb 03, 2024 8AM)
From the article: " Even people with moderately elevated low-density lipoprotein cholesterol (LDL-C) have higher risk of heart disease if they also had a variant for familial hypercholesterolemia (FH), according to new research. The long-term study included over 20,000 patients and reinforces the value of genetic testing for this condition."
Precision Medicine Has a Data Equity Problem
TM Gordon, NPQ, January 21, 2024
(Posted: Jan 26, 2024 10AM)
From the article: " The ability to deepen our understanding of disease susceptibility, diagnose diseases with greater accuracy, and develop tailored treatments that promote wellbeing and prolong people’s lives presents an opportunity to rectify longstanding healthcare inefficiencies and disparities. However, due to disparities in genomic data, the advent of genetically informed, personalized, or “precise” medicine may perpetuate—rather than alleviate—complex inequalities in care. "
Medical AI falters when assessing patients it hasn’t seen
M Nadaf, Nature, January 11, 2024
(Posted: Jan 12, 2024 6AM)
From the article: "Computer algorithms that are designed to help doctors treat people with schizophrenia do not adapt well to fresh, unseen data, a study has found. Such tools — which use artificial intelligence (AI) to spot patterns in large data sets and predict how individuals will respond to a particular treatment — are central to precision medicine, in which health-care professionals try to tailor treatment to each person. "
Data-driven science and diversity in the All of Us Research Program.
Geoffrey S Ginsburg et al. Sci Transl Med 2023 12 (726) eade9214
(Posted: Dec 14, 2023 8AM)
From the paper: "Having >1 million whole-genome sequences integrated with longitudinal data from questionnaires and electronic health records will allow a comprehensive molecular epidemiological approach across the life span. Genetic, environmental, and lifestyle data will be integrated and accessible, promoting an understanding of how their interactions drive transitions from health to disease and enabling a robust assessment of vulnerabilities and resilience for an individual or population. "
Modernizing Federal Oversight of Laboratory-Developed Tests - Toward Safety, Validity, and Utility.
Udit Singhal et al. N Engl J Med 2023 11 (19) 1735-1737
(Posted: Nov 09, 2023 2PM)
From the paper: "Advances in precision medicine have fueled an evolution in the availability of laboratory-developed tests (LDTs). Defined as in vitro diagnostic tests that are “designed, manufactured, and used in a single laboratory,” LDTs were initially conceived as simple tests offered to limited, local groups of patients.1 But LDTs have grown in complexity, and some hospital and commercial laboratories now accept specimens from around the world. "
Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions
S Fatumo et al, Genome Medicine, October 30, 2023
(Posted: Oct 30, 2023 8AM)
From the abstract: " Polygenic risk scores (PRS), which combine multiple contributing variants to predict disease risk, have the potential to influence the implementation for precision medicine. However, the majority of existing PRS were developed from European data with limited transferability to African populations. We (1) discuss the factors contributing to the poor transferability of PRS in African populations, (2) showcase the novel Africa genomic datasets for PRS development, (3) explore the potential clinical utility of PRS in African populations, and (4) provide insight into the future of PRS in Africa."
Precision medicine of obesity as an integral part of type 2 diabetes management – past, present, and future
L Szczerbinski et al. The Lancet Diabetes Endocr, October 4, 2023
(Posted: Oct 06, 2023 8AM)
From the abstract: " In this Review, we discuss advances in the genetics of obesity from the past decade—with emphasis on developments from the past 5 years—with a focus on metabolic consequences, and their potential implications for precision management of the disease. We also provide an overview of the potential role of genetics in guiding weight loss strategies. Finally, we propose a vision for the future of precision obesity management."
Precision medicine for cardiometabolic disease: a framework for clinical translation
PW Franks et al, The Lancet Diabetes Endoc, October 4, 2023
(Posted: Oct 06, 2023 8AM)
From the abstract: "To contextualise precision medicine in both research and clinical settings, and to encourage the successful translation of discovery science into clinical practice, in this Series paper we outline a model (the EPPOS model) that builds on contemporary evidence-based approaches; includes precision medicine that improves disease-related predictions by stratifying a cohort into subgroups of similar characteristics, or using participants' characteristics to model treatment outcomes directly; "
Understanding diabetes heterogeneity: key steps towards precision medicine in diabetes
RD Leslie et al, The Lancet Diabetes and Endocrinology, October 4, 2023
(Posted: Oct 06, 2023 7AM)
From the abstract: "Diabetes is a highly heterogeneous condition; yet, it is diagnosed by measuring a single blood-borne metabolite, glucose, irrespective of etiology. Although pragmatically helpful, disease classification can become complex and limit advances in research and medical care. The impact of any given disease risk factor will vary from person-to-person depending on their background, diabetes-related propensity, and environmental exposures. Defining the consequent heterogeneity within diabetes through precision medicine could improve health outcomes today and shine a light on avenues for novel therapy in the future. "
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
DK Tobias et al, Nature Medicine, October 5, 2023
(Posted: Oct 05, 2023 9AM)
From the abstract: "This international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine. "
Participant characteristics in the prevention of gestational diabetes as evidence for precision medicine: a systematic review and meta-analysis
S Lim et al, Comm Medicine, October 5, 2023
(Posted: Oct 05, 2023 9AM)
From the abstract: "Precision prevention involves using the unique characteristics of a particular group to determine their responses to preventive interventions. This study aimed to systematically evaluate the participant characteristics associated with responses to interventions in gestational diabetes mellitus (GDM) prevention. GDM prevention through metformin or lifestyle differs according to some individual characteristics. Future research should include trials commencing preconception and provide results disaggregated by a priori defined participant characteristics including social and environmental factors, clinical traits, and other novel risk factors to predict GDM prevention through interventions. "
Utility and precision evidence of technology in the treatment of type 1 diabetes: a systematic review
LM Jacobsen et al, Comm Medicine, October 5, 2023
(Posted: Oct 05, 2023 9AM)
From the abstract: "The greatest change in the treatment of people living with type 1 diabetes in the last decade has been the explosion of technology assisting in all aspects of diabetes therapy, from glucose monitoring to insulin delivery and decision making. As such, the aim of our systematic review was to assess the utility of these technologies as well as identify any precision medicine-directed findings to personalize care. "
Big advocacy, little recognition: the hidden work of Black patients in precision medicine
LH Jerido et al, J Comm Genetics, October 2023
(Posted: Oct 03, 2023 9AM)
From the abstract: " As cost-effective next-generation genome sequencing rapidly develops, calls for greater inclusion of Black people in genomic research, policy, and practice are necessary for effective translation of genomic science into precision population health and medicine. Employing a community-based participatory mixed methods research design, we developed a semi-structured survey that was disseminated to three cancer advocacy organizations."
A gene-by-sex interaction contributes to liver disease susceptibility in women
Nature Medicine, October 2, 2023
(Posted: Oct 02, 2023 11AM)
From the abstract: "Clinical and population-based cohorts revealed an interaction between the inherited PNPLA3 p.I148M variant and female sex in determining liver disease. Transcriptomic and functional studies showed that the mechanism encompasses ERa-dependent upregulation of PNPLA3 in hepatocytes, highlighting a target for precision medicine therapeutics in cisgender women. "
Biomarker-Directed Therapy in Black and White Men With Metastatic Castration-Resistant Prostate Cancer.
Clara Hwang et al. JAMA Netw Open 2023 9 (9) e2334208
(Posted: Sep 21, 2023 2PM)
From the abstract: "Do disparities exist in the application of precision medicine for Black and White men with metastatic prostate cancer?
In this cohort study of 962 men with metastatic castration-resistant prostate cancer, mismatch repair deficiency or microsatellite instability-high was significantly more frequent in Black men than White men. However, Black men were significantly less likely to receive molecularly matched targeted therapy than White men. These findings suggest that although precision medicine in metastatic prostate cancer has become more common, opportunities remain to improve access to precision medicine to benefit Black men with prostate cancer. "
Revolutionizing Cancer Research: The Impact of Artificial Intelligence in Digital Biobanking
C Frascarelli et al, J Per Med, September 2023
(Posted: Sep 18, 2023 11AM)
From the abstract: "As digital pathology and artificial intelligence (AI) have entered the precision medicine arena, biobanks are progressively transitioning from mere biorepositories to integrated computational databanks. Consequently, the application of AI and machine learning on these biobank datasets holds huge potential to profoundly impact cancer research. Methods. In this paper, we explore how AI and machine learning can respond to the digital evolution of biobanks with flexibility, solutions, and effective services. "
‘Very little yield’: has genetically targeted medicine really made us healthier?
NC Miles, The Guardian, September 9, 2023
(Posted: Sep 12, 2023 7AM)
From the article: "After spending 13 years and $2.7bn, the Human Genome Project announced in 2003 that it had successfully mapped our DNA, paving the way for a new era of medicine that would deliver “the right treatment, for the right patient, at the right time”. Twenty years later, some say the “era of precision medicine” has arrived. But others disagree. They argue that the gains have been small and pursuing them may have diverted attention from the preventable causes of common diseases."
Precision medicine: biomarkers guide patient-specific treatment
Biotechniques, August 31, 2023
(Posted: Sep 01, 2023 7AM)
From the article: "Biomarkers are used to guide decision-making regarding the choice of therapy, predict treatment response, monitor treatment effectiveness and detect any recurrence or progression of the disease. Biomarkers in cancer treatment can be classified into several categories: diagnostic, prognostic, predictive and disease monitoring."
Principles and methods for transferring polygenic risk scores across global populations
L Kachuri et al, Nature Rev Genetics, August 24, 2023
(Posted: Aug 24, 2023 10AM)
From the abstract: "Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries."
How are genetics, lifestyles, and cardiovascular and thromboembolic events associated following COVID-19 diagnosis?
TS Lomte, News Medical, August 2023
(Posted: Aug 11, 2023 11AM)
A recent study published in Nature Communications evaluated the associations between host genetics, lifestyle factors, and cardiovascular and thromboembolic events (CVEs) after coronavirus disease 2019 (COVID-19). Although prophylactic coagulation is recommended for hospitalized COVID-19 patients, mixed evidence exists for milder ambulatory and more critical COVID-19 patients. Polygenic risk scores (PRSs) have been proposed for early risk stratification and precision medicine. Whether genetic susceptibility to chronic CVD predisposes COVID-19 patients to CVE complications is unknown.
A Revolution Is Coming to Medicine. Who Will It Leave Out?
J Tabery, NY Times, August 5, 2023
(Posted: Aug 07, 2023 9AM)
There are some diseases for which genetics is truly saving lives; in particular, patients with rare diseases like spinal muscular atrophy and certain cancers such as chronic myelogenous leukemia may now be prescribed personalized medicine treatments that simply didn’t exist a couple of decades ago. For most patients with most diseases, though, the lofty promises have failed to materialize.
Precise, pragmatic and inclusive: the modern era of oncology clinical trials.
Michael J Grant et al. Nat Med 2023 7
(Posted: Aug 02, 2023 0PM)
What doctors wish patients knew about precision medicine
AMA News Wire, July 2023
(Posted: Jul 30, 2023 10AM)
In the rapidly evolving health care landscape, precision medicine—also referred to as personalized medicine—has emerged as a revolutionary approach that tailors medical treatments to individual patients. By harnessing the power of advanced technologies and genetic insights, precision medicine is transforming the way we understand and treat diseases.
Special Issue: “Genetic Counseling and Genetic Testing in Precision Medicine”
E Turbitt et al, J Per Med, July 27, 2023
(Posted: Jul 27, 2023 7AM)
Delivering on the promises of precision medicine comprehensively, equitably, and promptly depends on optimizing health service delivery to facilitate access to timely, evidence-based genetic and genomic testing. Improvements in access to genetic counseling and testing enable the delivery of the ‘right care to the right patient at the right time’. This Special Issue of the Journal of Personalized Medicine showcases the latest research on genetic counseling and genetic testing in precision medicine.
Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer.
James Casaletto et al. Annu Rev Genomics Hum Genet 2023 5
(Posted: Jul 25, 2023 8AM)
Continued advances in precision medicine rely on the widespread sharing of data that relate human genetic variation to disease. However, data sharing is severely limited by legal, regulatory, and ethical restrictions that safeguard patient privacy. Federated analysis addresses this problem by transferring the code to the data—providing the technical and legal capability to analyze the data within their secure home environment rather than transferring the data to another institution for analysis.
Perspective on 'Harm' in Personalized Medicine.
Aaron L Sarvet et al. Am J Epidemiol 2023 7
(Posted: Jul 23, 2023 9AM)
Avoiding harm is an uncontroversial aim of personalized medicine. However, the precise mathematical translation of “harm” is disputable. Here we use a formal causal language to study common, but distinct, definitions of “harm”. We clarify that commitment to a definition of harm has important practical and philosophical implications for decision making. We relate our practical and philosophical considerations to ideas from medical ethics and legal practice.
Rapid Genome Sequencing for Diagnosing Critically Ill Infants and Children: From Evidence to Equitable Implementation
CDC webinar, November 30, 2023
(Posted: Jul 21, 2023 9AM)
Dr. Stephen F. Kingsmore is president/CEO of Rady Children’s Institute for Genomic Medicine (RCIGM), where he leads a multidisciplinary team that is pioneering the use of rapid genome sequencing to diagnose critically ill children, implement precision medicine, and screen for approximately 500 genetic disorders. Dr. Kingsmore holds two Guinness World Records for achieving the fastest molecular diagnosis using whole genome sequencing.
Clinical trials assess a precision-medicine approach to cancer screening
S Moutinho, Nature Medicine, July 18, 2023
(Posted: Jul 18, 2023 2PM)
For more than three decades, mass-population breast-cancer screening worldwide has been based solely on one risk factor: age. Most programs and guidelines recommend mammography every 2 or 3 years for women 40–50 years of age (depending on the country) up to 74 years of age — regardless of other risk factors. Researchers believe they can improve screening by stratifying women according to their risk, on the basis of genetic factors, personal and familial history, and offering them a more personalized screening routine.
Family and personal history of cancer in the All of Us research program for precision medicine.
Lauryn Keeler Bruce et al. PLoS One 2023 7 (7) e0288496
(Posted: Jul 18, 2023 2PM)
The All of Us (AoU) Research Program is making available one of the largest and most diverse collections of health data in the US to researchers. Using the All of Us database, we evaluated family and personal histories of five common types of cancer in 89,453 individuals, comparing these data to 24,305 participants from the 2015 National Health Interview Survey (NHIS). Comparing datasets, we found similar family cancer history (33%) rates, but higher personal cancer history in the AoU dataset (9.2% in AoU vs. 5.11% in NHIS).
Precision Oncology for Papillary Craniopharyngioma.
Jaishri O Blakeley et al. N Engl J Med 2023 7 (2) 179-181
(Posted: Jul 13, 2023 1PM)
The majority of papillary craniopharyngiomas carry BRAF V600E mutations A recent study reports the results of a phase 2, single-group study involving patients with previously untreated BRAF V600E–mutated papillary craniopharyngioma. The study showed a high incidence of radiographic response to the RAF inhibitor vemurafenib and the allosteric MEK inhibitor cobimetinib.
Precision Medicine for More Oxygen (P4O2)—Study Design and First Results of the Long COVID-19 Extension
N Baalbaki et al, JPM, June 2023
(Posted: Jun 28, 2023 11AM)
The Precision Medicine for more Oxygen (P4O2) consortium COVID-19 extension aims to identify long COVID patients that are at risk for developing chronic lung disease and furthermore, to identify treatable traits and innovative personalized therapeutic strategies for prevention and treatment. This study aims to describe the study design and first results of the P4O2 COVID-19 cohort.
Precision Medicine Is Changing the Roles of Healthcare Professionals, Scientists, and Research Staff: Learnings from a Childhood Cancer Precision Medicine Trial
R Daly et al, JPM, June 23, 2023
(Posted: Jun 24, 2023 10AM)
We conducted semi-structured interviews with 85 PRISM professionals from eight professional groups, including oncologists, surgeons, clinical research associates, scientists, genetic professionals, pathologists, animal care technicians, and nurses. We analyzed interviews thematically. Professionals shared that precision medicine can add complexity to their role and result in less certain outcomes for families. Although many participants described experiencing a greater emotional impact from their work, most expressed very positive views about the impact of precision medicine on their profession and its future potential.
Precision medicine meets cancer vaccines.
et al. Nat Med 2023 6
(Posted: Jun 22, 2023 7AM)
Vaccines for treating cancer have been in development for decades, but their clinical efficacy has been elusive. Thus far, only one therapeutic vaccine against cancer has been approved by the US Food and Drug Administration for the treatment of prostate cancer, extending patient survival by only 4 months. Now, two independent efforts using mRNA vaccines tailor-made to target each patient’s tumor have reported initial success in melanoma and pancreatic cancer and are energizing the field of anti-cancer vaccines.
NCI Will Study Drug Combinations in New Precision Treatment Initiative.
Emily Harris et al. JAMA 2023 6
(Posted: Jun 19, 2023 1PM)
A new initiative will evaluate the effectiveness of drug combinations to treat cancers with particular genetic changes. ComboMATCH, short for Combination Therapy Platform Trial with Molecular Analysis for Therapy Choice, is made up of phase 2 trials that evaluate either 2 targeted drugs or 1 targeted drug and 1 chemotherapy treatment. The initiative follows an earlier precision medicine clinical trial in which patients with certain genetic changes in their tumors received targeted therapies of mostly single drugs.
Is a Revolution in Cancer Treatment Within Reach?
K Pickert, NY Times, June 16, 2023
(Posted: Jun 19, 2023 1PM)
Right now, two relatively new classes of cancer drugs are displacing traditional chemotherapy for many types of cancer and giving metastatic patients, in particular, more time. Many of these advances employ a person’s own immune system to eliminate cancer cells, rather than using chemotherapy or radiation to do the extinguishing. These are modern immunotherapy drugs and antibody-drug conjugates, or ADCs.
The NCI-MATCH trial: lessons for precision oncology.
Peter J O'Dwyer et al. Nat Med 2023 6
(Posted: Jun 16, 2023 1PM)
The NCI-MATCH (Molecular Analysis for Therapy Choice) trial was launched in 2015 as a genomically driven, signal-seeking precision medicine platform trial—largely for patients with treatment-refractory, malignant solid tumors. Having completed in 2023, it remains one of the largest tumor-agnostic, precision oncology trials undertaken to date. Nearly 6,000 patients underwent screening and molecular testing, with a total of 1,593 patients (inclusive of continued accrual from standard next-generation sequencing) being assigned to one of 38 substudies.
Cost-Effectiveness Analysis in Public Health Genomics and Precision Health: Recent Findings, Methodologic Issues, and the Path Forward
CDC Public Health Genomics Webinar, October 26, 2023
(Posted: Jun 09, 2023 8AM)
Dr David Veenstra from the University of Washington in Seattle will review the field as a whole and his research projects including evaluation of the cost-effectiveness of population-level genomic screening, pharmacogenomics in diverse populations, decision modeling techniques to assess evidence thresholds, and stakeholder preferences for precision medicine. He will address recent findings, methodologic issues and the path forward.
Biomarkers and personalised medicine in paediatric kidney disease
BL Neuen, The Lancet Ped Adol Med, June 2023
(Posted: May 31, 2023 7AM)
The concept of precision medicine for children and adults with chronic kidney disease has gained considerable attention in the past decade, with improvements in our understanding of the genetic, molecular, and other mechanisms that drive disease predisposition and progression. A notable example is the US National Institute of Diabetes and Digestive and Kidney Diseases' Kidney Precision Medicine Project,
Precision Medicine in Oral Health and Diseases: A Systematic Review
G Malcangi et al, J Per Med, April 25, 2023
(Posted: Apr 25, 2023 7AM)
Precision medicine (PM) is personalized medicine that can develop targeted medical therapies for the individual patient, in which “omics” sciences lead to an integration of data that leads to highly predictive models of the functioning of the individual biological system. They enable rapid diagnosis, assessment of disease dynamics, identification of targeted treatment protocols, and reduction of costs and psychological stress. “Precision dentistry” (DP) is one promising application that need further investigation; the purpose of this paper is therefore to give physicians an overview of the knowledge they need to enhance treatment planning and patient response to therapy.
Utilization of Circulating Tumor Cells in the Management of Solid Tumors
PC Kumiali et al, J Per Med, April 20., 2023
(Posted: Apr 20, 2023 10AM)
CTCs may play significant roles in cancer screening, diagnosis, treatment navigation, including prognostication and precision medicine, and surveillance. In cancer screening, capturing and evaluating CTCs from peripheral blood could be a strategy to detect cancer at its earliest stage. Cancer diagnosis using liquid biopsy could also have tremendous benefits. Full utilization of CTCs in the clinical management of malignancies may be feasible in the near future; however, several challenges still exist.
Ferrying Oncologists Across the Chasm of Interpreting Biomarker Testing Reports: Systematic Support Needed to Improve Care and Decrease Disparities.
Howard Jack West et al. JCO oncology practice 2023 3 OP2300010
(Posted: Apr 03, 2023 7AM)
Precision oncology is predicated on testing of tumor tissue or circulating tumor DNA to develop a molecular profile from which an optimal therapeutic approach can be determined. Unfortunately, real-world execution of this concept is fraught with challenges, including insufficient tumor tissue for analysis, prohibitively long turnaround times, inconsistent availability of results, and challenges in interpretation of the testing reports—all before optimally selected treatment can even be prescribed and administered to the patient.
All of Us and the Promise of Precision Medicine: Achieving Equitable Access for Federally Qualified Health Center Patients
C Neuhaus et al, J Per Med, March 2023
(Posted: Mar 31, 2023 7AM)
AoU has partnered with Federally Qualified Health Centers (FQHCs), which is a type of community health center whose patient base is comprised largely of people who are uninsured, underinsured, or on Medicaid. Our NIH-funded study convened FQHC providers involved in AoU to better understand precision medicine in community health settings. Drawing from our findings, we present barriers community health patients and their providers face when accessing diagnostics and specialty care after genetic results necessitate medical follow-up care.
Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools!
Julie De Backer et al. Circulation. Genomic and precision medicine 2023 3 e004104
(Posted: Mar 31, 2023 6AM)
Tracking the Impact of the All of Us Research Program: The All of Us Reports and Publications Database
M Clyne et al, CDC Blog Post, March 28, 2023
(Posted: Mar 28, 2023 8AM)
The All of Us Reports and Publications Database (AofURPD) is a continuously updated, searchable database referencing and linking to peer reviewed journal publications, preprint records, as well as select information from websites and media sources that relate to the All of Us Research Program. This blog provides a baseline overview of the content of the AofURPD as of March 17, 2023, including reports and publications as far back as the All of Us Research Program inception in 2016.
Top advances of the year: Precision oncology.
Aakash Desai et al. Cancer 2023 3
(Posted: Mar 23, 2023 6AM)
In this review, recent major developments in precision oncology that have affected outcomes for patients with cancer are discussed. Rapid clinical development was seen of targeted agents across various mutational profiles such as KRASG12C (which was considered “undruggable” for almost 4 decades), Exon 20 insertions, and RET mutations. Approaches to precision chemotherapy delivery by the introduction of antibody drug conjugates in the armamentarium against lung cancer has been appreciated.
Toward Personalizing Care: Assessing Heterogeneity of Treatment Effects in Randomized Trials.
Issa J Dahabreh et al. JAMA 2023 3
(Posted: Mar 22, 2023 7AM)
While conventional one-variable-at-a-time subgroup analyses and risk score approaches will continue to have a role in estimating and reporting variation in treatment effects across clinically relevant patient subgroups, randomized trials should increasingly report effect score analyses for detecting heterogeneity of treatment effect on an absolute scale to better inform personalized care decisions in real-world populations.
Validation of a Polygenic Score for Beta-Blocker Survival Benefit in Patients With Heart Failure Using the United Kingdom Biobank.
David E Lanfear et al. Circulation. Genomic and precision medicine 2023 3 e003835
(Posted: Mar 04, 2023 9AM)
The Progress and Pitfalls of Pharmacogenetics-Based Precision Medicine in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis
Y Teng et al, J Per Med, March 4, 2023
(Posted: Mar 04, 2023 8AM)
The inadequate efficacy and adverse effects of antipsychotics severely affect the recovery of patients with schizophrenia spectrum disorders (SSD). We report the evidence for associations between pharmacogenetic (PGx) variants and antipsychotics outcomes, including antipsychotic response, antipsychotic-induced weight/BMI gain, metabolic syndrome, antipsychotic-related prolactin levels, antipsychotic-induced tardive dyskinesia (TD), clozapine-induced agranulocytosis (CLA), and drug concentration level (pharmacokinetics) in SSD patients.
Beyond genetic screening-functionality-based precision medicine in monogenic obesity.
Antje Körner et al. The lancet. Diabetes & endocrinology 2023 2 (3) 143-144
(Posted: Feb 28, 2023 7AM)
Most genes causing monogenic obesity are implicated in the central energy regulatory circuits of the leptin-melanocortin pathway. Even though monogenic obesity is still a rare disease entity, identifying these patients is important since there are now promising treatment options such as setmelanotide, a melanocortin receptor agonist, which was recently approved by the US Food and Drug Administration and European Medicines Agency
A Piece of a Puzzle – The All of Us Research Program and Cancer
K Littrell et al, CDC Blog Post, February 27, 2023
(Posted: Feb 27, 2023 9AM)
The All of Us research program has vast potential for making an impact on population health using the new tools of precision medicine. Pairing genomic data with family health history will be critical for clinical utility. The genetic and environmental data that the All of Us research program promises are all important pieces of the puzzle in the progress towards cancer prevention and control.
Precision oncology for BRAF-mutant cancers with BRAF and MEK inhibitors: from melanoma to tissue-agnostic therapy
MA Gouda et al, ESMO Open, February 24, 2023
(Posted: Feb 26, 2023 8AM)
BRAF alterations lead to unbridled activation of the MAPK pathway which can result in cancer development and progression. BRAF and MEK inhibitors led to paradigm change in management of BRAF-mutated melanoma, lung, and anaplastic thyroid cancers. BRAF plus MEK inhibitor combination has shown clinical activity in >20 different BRAF V600-positive tumor types. Dabrafenib and trametinib has received FDA accelerated approval for metastatic solid tumors with BRAF V600E mutations. The recent tissue-agnostic approval is transformative as it prioritizes mutational status over tissue of origin.
Trialing precision medicine for type 2 diabetes
SJ Pilla et al, Nature Medicine, February 6, 2023
(Posted: Feb 07, 2023 6AM)
A study prospectively evaluating a stratified approach to selecting treatment heralds a new era of precision medicine for type 2 diabetes, which should incorporate ongoing discovery, social determinants of health and healthcare transformation.
Integration of artificial intelligence in lung cancer: Rise of the machine.
Colton Ladbury et al. Cell reports. Medicine 2023 2 100933
(Posted: Feb 05, 2023 11AM)
In lung cancer, several data points over a patient’s diagnostic and treatment course are relevant to optimizing outcomes in the form of precision medicine, and artificial intelligence (AI) provides the opportunity to use available data from molecular information to radiomics, in combination with patient and tumor characteristics, to help clinicians provide individualized care. In doing so, AI can help create models to identify cancer early in diagnosis and deliver tailored therapy on the basis of available information,
Towards precision medicine based on a continuous deep learning optimization and ensemble approach.
Jian Li et al. NPJ digital medicine 2023 2 (1) 18
(Posted: Feb 04, 2023 7AM)
We developed a continuous learning system (CLS) based on deep learning and optimization and ensemble approach, and conducted a retrospective data simulated prospective study using ultrasound images of breast masses for precise diagnoses. We developed a continuous learning system (CLS) based on deep learning and optimization and ensemble approach, and conducted a retrospective data simulated prospective study using ultrasound images of breast masses for precise diagnoses.
Psychiatry pharmacogenomics: Africans are not at the table.
Frances Adiukwu et al. The lancet. Psychiatry 2023 1 (2) 80
(Posted: Feb 03, 2023 7AM)
Pharmacogenomic studies have the potential to change psychiatric practice, for example by advancing precision medicine in determining medication effectiveness and thereby reducing the need for trial and error. However, the African population is under-represented with regard to data and research participation in this field, with limited output, knowledge, and clinical applicability of pharmacogenomic evidence in Africa.
An innovative framework to determine the implementation level of personalized medicine: A systematic review
LA Cobos et al, Front in Public Health, February 3, 2023
(Posted: Feb 03, 2023 7AM)
Personalized medicine (PM) is now the new frontier in patient care. The application of this new paradigm extends to various pathologies and different patient care phases, such as diagnosis and treatment. Translating biotechnological advances to clinical routine means adapting health services at all levels is necessary.
This article aims to identify the elements for devising a framework that will allow the level of PM implementation in the country under study to be quantitatively and qualitatively assessed and that can be used as a guideline for future implementation plans.
From precision diagnosis to precision treatment in epilepsy.
Katrine M Johannesen et al. Nature reviews. Neurology 2022 12
(Posted: Feb 01, 2023 1PM)
Technological advances over the past decade have made precision genetic diagnosis available to many patients. The findings of a new study demonstrate that genetic diagnosis in epilepsy can lead to changes in clinical management that manifest as positive outcomes for the patient. The results herald a new era in which precision diagnosis will lead to precision medicine.
Sequencing of genes of drug response in tumor DNA and implications for precision medicine in cancer patients.
Nancy Gillis et al. The pharmacogenomics journal 2023 1
(Posted: Feb 01, 2023 6AM)
Tumor DNA sequencing is becoming standard-of-care for patient treatment decisions. We evaluated genotype concordance between tumor DNA and genomic DNA from blood and catalogued functional effects of somatic mutations in 21 drug response genes in 752 solid tumor patients. Using a threshold of 10% difference between tumor and blood DNA variant allele fraction (VAF), concordance for heterogenous genotype calls was 78% and increased to 97.5% using a 30% VAF threshold. Somatic mutations were observed in all 21 drug response genes, and 44% of patients had at least one somatic mutation in these genes.
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.
Brendan J Floyd et al. Circulation. Genomic and precision medicine 2023 1
(Posted: Jan 31, 2023 8AM)
Family History of Sudden Cardiac Death in the Young and Inherited Arrhythmia Syndromes: Awareness and Attitudes of General Practitioners and Private Practice Cardiologists.
Flavia Piciacchia et al. Circulation. Genomic and precision medicine 2023 1
(Posted: Jan 31, 2023 8AM)
Barriers and Facilitators to the Implementation of Personalised Medicine across Europe
DS Wojtas et al, J Per Med, January 23, 2023
(Posted: Jan 24, 2023 8AM)
The Singapore National Precision Medicine Strategy.
Wong Eleanor et al. Nature genetics 2023 1
(Posted: Jan 21, 2023 6AM)
The 10-year initiative aims to generate precision medicine data of up to one million individuals, integrating genomic, lifestyle, health, social and environmental data. Beyond technologies, routine adoption of precision medicine in clinical practice requires social, ethical, legal and regulatory barriers to be addressed. Identifying driver use cases in which precision medicine results in standardized changes to clinical workflows or improvements in population health, coupled with health economic analysis to demonstrate value-based healthcare, is a vital prerequisite for responsible health system adoption.
Precision medicine: affording the successes of science.
Lu Christine Y et al. NPJ precision oncology 2023 1 (1) 3
(Posted: Jan 17, 2023 9AM)
Drug development in ever-smaller target populations is a critical component of the rising costs of care. For structural and historical reasons, drug development is inefficient and poorly integrated across the public and private sectors. We postulate an alternative, integrated model in which governments and industry share the risks and benefits of drug development.
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Cuppen Edwin et al. JCO precision oncology 2022 12 e2200245
(Posted: Jan 04, 2023 6AM)
We review the current studies implementing WGTS in health care systems and provide a synopsis of the clinical evidence and insights into practical considerations for WGTS implementation. We reflect on regulatory, costs, reimbursement, and incidental findings aspects of this test. WGTS is an appropriate comprehensive clinical test for many tumor types and can replace multiple, cascade testing approaches currently performed.
Predicting tumour radiosensitivity to deliver precision radiotherapy.
Price James M et al. Nature reviews. Clinical oncology 2022 12
(Posted: Dec 12, 2022 5AM)
Owing to advances in radiotherapy, physical properties of radiation can be optimized to enable individualized treatment; however, optimization is rarely based on biological properties and, therefore, treatments are generally planned with the assumption that all tumors respond similarly. Radiation affects multiple cellular pathways, including DNA damage, hypoxia, proliferation, stem cell phenotype and immune response. In this Review, we summarize the effect of these pathways on tumor responses to radiotherapy and the current state of research on genomic classifiers designed to exploit these variations to inform treatment decisions
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Esterhuizen Alina I et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 12
(Posted: Dec 09, 2022 7AM)
Sub-Saharan Africa bears the highest burden of epilepsy worldwide. A presumed proportion is genetic, but this etiology is buried under the burden of infections and perinatal insults in a setting of limited awareness and few options for testing. Children with developmental and epileptic encephalopathies (DEEs) are most severely affected by this diagnostic gap in Africa, because the rate of actionable findings is highest in DEE-associated genes. Of the 41 (of 234) children with likely/pathogenic variants, 26 had variants supporting precision therapy.
Improving Precision Oncology through Better Designs and Reporting of Biomarker-Driven Randomized Clinical Trials.
LoRusso Patricia M et al. Journal of the National Cancer Institute 2022 11
(Posted: Dec 03, 2022 7AM)
Will Organoids Fill the Gap towards Functional Precision Medicine?
F Papacio et al, J Per Med, November 21, 2022
(Posted: Nov 22, 2022 7AM)
Precision medicine approaches for solid tumors are mainly based on genomics. Its employment in clinical trials has led to somewhat underwhelming results, except for single responses. Several factors can influence the response, such as gene and protein expression, the coexistence of different genomic alterations or post-transcriptional/translational modifications, the impact of tumor microenvironment. Recently, the introduction of patient-derived organoids (PDOs) (stable primary cultures derived directly from the patient) showed the possibility of using them to predict in vitro the response that should be observed in the patient. This could represent a way to test the effectiveness of a precision medicine approach before administering it to the patient, maximizing clinical benefit.
Workforce Considerations When Building a Precision Medicine Program
CLB Zawatsky et al, J Per Med, November 20, 2022
(Posted: Nov 20, 2022 7AM)
This paper describes one healthcare system’s approach to strategically deploying genetic specialists and pharmacists to support the implementation of a precision medicine program. We report the necessary staffing including the genetic counselors, genetic counseling assistants, pharmacists, and geneticists. We examined the administrative and electronic medical records data to summarize genetic referrals over time as well as the uptake and results of an enterprise-wide genetic screening test. Between 2013 and 2020, the number of genetic specialists increased by 190%, from 10.1 full-time equivalents (FTEs) to 29.3 FTEs.
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline
M Beaman et al, J Per Med, November 18, 2022
(Posted: Nov 18, 2022 6AM)
We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to establish a prompt diagnosis. Our pilot study resulted in a 37.5% diagnostic rate by whole genome sequencing alone and an overall 50% diagnostic rate for the cohort. We describe how the diagnoses led to identification of additional affected relatives and a change in management, the limitations of rapid genome sequencing, and some of the challenges with sample collection.
Aiming for equitable precision medicine in diabetes.
et al. Nature medicine 2022 11 (11) 2223
(Posted: Nov 18, 2022 6AM)
New initiatives aimed at reducing the burden of diabetes are laudable, but they will have to account for the disease’s complexity and heterogeneity to be truly effective and equitable at a global scale. A growing body of evidence supports the idea that variation exists not only in disease presentation and progression but also in individual responses to therapy, which suggests that a ‘one-size-fits-all’ approach to meeting the global coverage targets will be insufficient.
Medicine and health of 21st Century: Not just a high biotech-driven solution.
Assidi Mourad et al. NPJ genomic medicine 2022 11 (1) 67
(Posted: Nov 16, 2022 8AM)
Although the potential of biotechnology is motivating, we should not lose sight of approaches that may not seem as glamorous but can have large impacts on the healthcare of many and across disparate population groups. A balanced approach of “omics and big data” solution in contemporary health systems along with a large scale, simpler, and suitable strategies should be defined with expectations properly managed.
CRISPR cancer trial success paves the way for personalized treatments ‘Most complicated therapy ever’ tailors bespoke, genome-edited immune cells to attack tumours.
H Ledford, Nature, November 10, 2022
(Posted: Nov 11, 2022 6AM)
A small clinical trial has shown that researchers can use CRISPR gene editing to alter immune cells so that they will recognize mutated proteins specific to a person’s tumours. Those cells can then be safely set loose in the body to find and destroy their target. It is the first attempt to combine two hot areas in cancer research: gene editing to create personalized treatments, and engineering immune cells called T cells so as to better target tumours. The approach was tested in 16 people with solid tumours, including in the breast and colon.
Feasibility of Precision Medicine in Hypertension Management—Scope and Technological Aspects
P Nitzan et al, J Per Med, November 7, 2022
(Posted: Nov 07, 2022 9AM)
While the use of genomic and proteomic personal features for widespread precision hypertension management is not practical, other features, such as age, ethnicity, and cardiovascular diseases, have been utilized in guidelines for hypertension management. In precision medicine, more blood-pressure-related clinical and physiological characteristics can be utilized for the determination of the threshold of hypertension and optimal treatment. Several non-invasive and simple-to-use techniques for the measurement of hypertension-related physiological features are suggested for use in precision management of hypertension
A Scoping Review of the Transcriptomic Perspective of Sepsis, a Move Towards Improved Precision Medicine?
A Rashid et al, MEDRXIV, November 2, 2022
(Posted: Nov 03, 2022 8AM)
Type 2 Diabetes
E Ahmad et al, The Lancet, November 2022
(Posted: Nov 02, 2022 6AM)
Type 2 diabetes accounts for nearly 90% of the approximately 537 million cases of diabetes worldwide. Access to novel therapies improves person-centred outcomes beyond glycaemic control. Precision medicine, including multiomics and pharmacogenomics, hold promise to enhance understanding of disease heterogeneity, leading to targeted therapies. Technology might improve outcomes, but its potential is yet to be realised. Despite advances, substantial barriers to changing the course of the epidemic remain.
Inconsistent clinical practices thwart wider use of personalized medicine
D Pritchard et al, STAT News, October 31, 2022
(Posted: Nov 01, 2022 2PM)
The promise of personalized medicine — safer and more effective treatments tailored to each individual’s body and needs — isn’t being fully met because of challenges associated with its implementation in clinical practice. Gaps in clinical practice that limited the possibility of personalized medicine included failures to order tests to identify genes that may be associated with targeted treatment options, failures to collect the tissue or blood samples needed for those tests, errors in collecting or processing tissue or blood sample, testing results that were inconclusive or provided false negatives, extended turnaround times for reporting results that prompted doctors to prescribe one-size-fits-all treatments for patients who did not have the time to wait any longer, and failures to prescribe the appropriate therapies to patients who tested positive for actionable biomarkers.
Accelerating genomic medicine in the NHS
NHS England, October 2022
(Posted: Oct 30, 2022 0PM)
As we bring the benefits of genomics to patients and our population, we need a comprehensive and ambitious national approach covering prevention, diagnosis and targeted treatments that enables patients, families and carers to participate in shared decision making. This strategy sets out four priority areas to this approach: 1. Embedding genomics across the NHS, through a world leading innovative service model from primary and community care through to specialist and tertiary care. 2. Delivering equitable genomic testing for improved outcomes in cancer, rare, inherited and common diseases and in enabling precision medicine and reducing adverse drug reactions. 3. Enabling genomics to be at the forefront of the data and digital revolution, ensuring genomic data can be interpreted and informed by other diagnostic and clinical data. 4. Evolving the service through cutting-edge science, research and innovation to ensure that patients can benefit from rapid implementation of advances.
Can Start-Ups Significantly Lower the Cost of Gene Sequencing?
R Furchgott, NY Times, October 12, 2022
(Posted: Oct 14, 2022 11AM)
Over the years, as the underlying technology progressed, the price dropped, but not enough to deliver on the promise of so-called precision medicine, with drugs and treatments tailored to maximize effectiveness for each individual patient. With the price of a partial but useful genome scan hovering around $1,000, scientists believed big breakthroughs would only come when the whole genome sequencing cost sunk to around $100.
MatchMiner: an open-source platform for cancer precision medicine
H Klein et al, NPJ Precision Oncology, October 7, 2022
(Posted: Oct 08, 2022 7AM)
To facilitate enrollment onto PM trials, we developed MatchMiner, an open-source platform to computationally match genomically profiled cancer patients to PM trials. Here, we describe MatchMiner’s capabilities, outline its deployment at Dana-Farber Cancer Institute (DFCI), and characterize its impact on PM trial enrollment. We measured time from genomic sequencing report date to trial consent date for the 166 MMC compared to trial consents not facilitated by MatchMiner (non-MMC). We found MMC consented to trials 55 days (22%) earlier than non-MMC. MatchMiner has enabled our clinicians to match patients to PM trials and accelerated the trial enrollment process.
Genetic Discrimination and Misuse of Genetic Information: Areas of Possible Discrimination, Current Legislation, and Potential Limitations
SG Lee et al, CDC Blog Post, October 3, 2022
(Posted: Oct 04, 2022 1PM)
The emergence and the rapid development of various genetic technologies and their incorporation into precision medicine have greatly expanded medicine’s capabilities. At the same time, concerns about the availability and dissemination of vast amounts of personally relevant data have focused attention on potential problems of genetic discrimination.
Personalized Prescription of Chemotherapy Based on Assessment of mRNA Expression of BRCA1, RRM1, ERCC1, TOP1, TOP2α, TUBβ3, TYMS, and GSTP1 Genes in Tumors Compared to Standard Chemotherapy in the Treatment of Non-Small-Cell Lung Cancer
MM Tsyganov et al, J Per Medicine, October 4, 2022
(Posted: Oct 04, 2022 9AM)
MFS and OS were significantly better in the personalized chemotherapy group compared to the classic chemotherapy group (MFS, 46.22 vs. 22.9 months, p = 0.05; OS, 58.6 vs. 26.9 months, p < 0.0001). Importantly, the best metastasis-free survival rates in the group with personalized ACT were achieved in patients treated with the paclitaxel/carboplatin regimen. Based on an assessment of chemosensitivity gene expression in the tumors, the classical chemotherapy strategy also increased the risk of death (HR = 14.82; 95% CI: 3.33–65.86; p < 0.000) but not metastasis (HR = 1.95; 95% CI: 0.96–3.98; p = 0.06) compared to the group of patients with chemotherapy.
Accelerated approvals hit the target in precision oncology
V Subbiah et al, Nature Medicine, October 3, 2022
(Posted: Oct 04, 2022 8AM)
Since 1992, there have been 42 accelerated approvals in precision oncology for solid tumors. Accelerated approvals in precision oncology were defined as unique drug–indication pairings that target a specific mutation, such as epidermal growth factor receptor (EGFR), or a population with tumors known to contain a specific mutation, such as mTOR inhibitors for tumors associated with tuberous sclerosis complex (TSC1 and TSC2). Most of these accelerated approvals (86%) were based on overall response rate (ORR), with a median ORR of 53% and a range from 11 to 100%.
Precision medicine for inflammatory bowel disease
H Carr, PHG Foundation, September 30, 2022
(Posted: Oct 01, 2022 7AM)
IBD is a relapsing inflammatory disease that is increasing in newly industrialized countries. Treatment decisions for IBD are currently based on trial and error, resulting in patient uncertainty and potential for uncontrolled disease. Precision medicine approaches could inform treatment decisions and ensure the right patient gets the right treatment at the right time, increasing disease control and improving patients’ quality of life. Precision medicine for IBD is not yet ready for the clinic and requires further research and validation
Precision medicine for advanced breast cancer- Matching genomic alterations to targeted therapies could unlock the benefits of precision medicine — but tools for interpreting genomic data are crucial.
K O'Leary, Nature Medicine, September 26, 2022
(Posted: Sep 27, 2022 8AM)
Patients with the same type of cancer can have different genomic alterations that drive those cancers. The concept of precision medicine is based on matching a patient’s own molecular profile to an effective, targeted therapy, but knowing how best to interpret and act on comprehensive genomic data remains a challenge.
Genetic discrimination still casts a large shadow in 2022
Y Joly et al, EJHG, September 26, 2022
(Posted: Sep 26, 2022 6AM)
Many countries have adopted laws to prevent genetic discrimination. One may wonder why in 2022, GD remains a problem in biomedical research and precision medicine. In fact, this issue remains so pervasive that one of the first questions asked by individuals that are considering undergoing a research, or clinical genetic (or other OMICS), test is very often ‘will this impact my insurability or that of my children?’
Health digital twins as tools for precision medicine: Considerations for computation, implementation, and regulation
KP Venkatesh et al, NPJ Digital Medicine, Sepetmber 22, 2022
(Posted: Sep 23, 2022 7AM)
Health digital twins are defined as virtual representations (“digital twin”) of patients (“physical twin”) that are generated from multimodal patient data, population data, and real-time updates on patient and environmental variables. With appropriate use, HDTs can model random perturbations on the digital twin to gain insight into the expected behavior of the physical twin—offering groundbreaking applications in precision medicine, clinical trials, and public health.
The future of diagnostic excellence
HV Feinberg et al, JAMA, September 20, 2022
(Posted: Sep 21, 2022 7AM)
Many technologic initiatives to improve future diagnostic capabilities are already underway. The future of diagnosis will be marked by massive, continuously acquired data, automated interpretation of data streams and data patterns, and personal reference over time of what constitutes a normal result.
Increasingly precise diagnoses will allow clinical comparisons across more nearly alike patients and ultimately provide a unique health profile for each individual.
Trends in Tier 1 Genomic Applications 2013-2022
M Clyne et al, CDC Blog Post, September 20, 2022
(Posted: Sep 20, 2022 2PM)
The CDC Tier 1 genomic applications database can help consumers, providers, health care organizations and public health programs accelerate the translation of genomic discoveries into improved population health. Advances in genomics and precision medicine are proceeding at a rapid pace. Many genomic tests have reached clinical practice without clear indication as to whether their use will actually improve health. In order to provide general information to healthcare providers and the general public, in 2014 our office introduced a simple approach for classifying genomic applications based upon 1) type of evidence and 2) recommendation for use of genomic applications. This systematic classification approach assigns genomic applications into one of three tiers.
Implementing precision medicine in a regionally organized healthcare system in Sweden
T Fioretos et al, Nature Medicine, September 19, 2022
(Posted: Sep 20, 2022 6AM)
Although some governments have created national strategies for precision medicine and utilized centralized infrastructures, the process has proven more challenging for countries like Sweden with a regionally organized healthcare system. In Sweden, the key to a successful implementation of precision medicine has instead been a bottom-up approach in which academia and healthcare joined forces to build a nationally distributed infrastructure.
Precision medicine improves outcomes in metastatic breast cancer.
et al. Nature 2022 9
(Posted: Sep 09, 2022 8AM)
For breast cancers that have spread, a randomized phase II clinical trial shows that using genomic analysis to target therapies can improve outcomes, but only in people with a genetic alteration that has previously been associated with antitumor activity in clinical trials.
Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience.
Nelson Sarah C et al. American journal of human genetics 2022 9 (9) 1582-1590
(Posted: Sep 04, 2022 8AM)
The NHLBI Trans-Omics for Precision Medicine (TOPMed) program considered the scientific and social implications of different approaches for adding stratified frequencies to the TOPMed BRAVO (Browse All Variants Online) variant server. We recommend a novel approach of presenting ancestry-specific allele frequencies using a statistical method based upon local genetic ancestry inference.
Communicating Precision Medicine Research: Multidisciplinary Teams and Diverse Communities.
Beans Julie A et al. Public health genomics 2022 8 1-9
(Posted: Sep 01, 2022 3PM)
A shared definition of precision medicine research as well as six case examples of precision medicine research involving genetic risk, pharmacogenetics, epigenetics, the microbiome, mobile health, and electronic health records were developed. Discussion/Conclusion: The precision medicine research definition and case examples can be used as planning tools to establish a shared understanding of the scope of precision medicine research across multidisciplinary teams and with the diverse communities.
Personalized Medicine in Coronary Artery Disease: Where Are We in 2022?
Dmitry Shchekochikhin et al, J Per Medicine, September 1, 2022
(Posted: Sep 01, 2022 2PM)
This Special Issue of the Journal of Personalized Medicine covers several questions about personalized medicine in coronary artery disease, with a special focus on the use of non-coning RNA as biomarkers or treatment targets and novel cardiac imaging modalities that can influence daily practice.
Clinical trial design in the era of precision medicine
E Fountzilas et al, Genome Medicine, August 31, 2022
(Posted: Aug 31, 2022 7AM)
Multiple new trial designs, including basket and umbrella trials, master platform trials, and N-of-1 patient-centric studies, are beginning to supplant standard phase I, II, and III protocols, allowing for accelerated drug evaluation and approval and molecular-based individualized treatment. Furthermore, real-world data, as well as exploitation of digital apps and structured observational registries, and the utilization of machine learning and/or artificial intelligence, may further accelerate knowledge acquisition.
