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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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856 hot topic(s) found with the query "Precision medicine "

A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
Y Luo et al, Nature Medicine, August 10, 2020 (Posted: Aug-11-2020 7AM)

By combining healthcare claims, electronic health records, familial whole-exome sequences and neurodevelopmental gene expression patterns, we identified a subgroup of patients with dyslipidemia-associated autism.


Adopting consistent terms for genetic testing in precision medicine
C Jett, NSGC Blog, July 28, 2020 (Posted: Jul-30-2020 8AM)

Patients and providers may be overwhelmed by the complexities of testing and lack a common vocabulary to begin meaningful discussion. Without a shared language to help bridge this knowledge gap, patients may be unwilling to ask for testing and providers may be unwilling to offer it.


Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association
K Musunuru et al, Circulation: Genomics and Precision Medicine (Posted: Jul-24-2020 9AM)

Advances in human genetics are improving the understanding of inherited cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial hypercholesterolemia. This statement summarizes current best practices for genetic testing in inherited cardiovascular diseases.


Causal inference and counterfactual prediction in machine learning for actionable healthcare
M Prosperi et al, Nature Machine Intelligence, July 13, 2020 (Posted: Jul-14-2020 8AM)

Precision medicine is not only about predicting risks and outcomes, but also about weighing interventions. Interventional clinical predictive models require the correct specification of cause and effect, and the calculation of so-called counterfactuals, that is, alternative scenarios.


The Beginning of Genomic Therapies for ALS.
Hardiman Orla et al. The New England journal of medicine 2020 Jul (2) 180-181 (Posted: Jul-09-2020 9AM)

Two studies have shown that a precision-medicine approach to the treatment of neurodegenerative conditions associated with single mutated genes may be within reach. But the studies were not powered to provide evidence of efficacy.


From Precision Medicine to Precision Public Health: Beyond the Pandemic
MJ Khoury et al, CDC Blog Post, June 18, 2020 Brand (Posted: Jun-21-2020 3PM)

As the CDC Coronavirus Disease portal in genomics and precision health shows, an emerging display of scientific productivity is shifting the narrative from precision medicine to precision public health in response to the COVID-19 pandemic.


Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Popejoy Alice B et al. American journal of human genetics 2020 Jun (Posted: Jun-12-2020 8AM)

Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, and ancestry (REA) to stratify study participants and patients for a variety of applications in research and precision medicine. However, there are no comprehensive, widely accepted standards or guidelines for collecting and using such data in genetics practice


Artificial Intelligence: Promise, Pitfalls, and Perspective
AN Desai, JAMA, June 3, 2020 (Posted: Jun-04-2020 8AM)

Artificial intelligence proponents have expressed particular enthusiasm about potential applications in precision medicine... Despite all those hopeful forecasts, however, the promise of AI remains to be fully realized.


Sex and gender differences and biases in artificial intelligence for biomedicine and healthcare
D Cirillo et al, NPJ Digital Medicine, June 1, 2020 (Posted: Jun-02-2020 7AM)

Most of the currently used biomedical AI technologies do not account for bias detection. In this review we examine the current sex and gender gaps in a subset of biomedical technologies used in relation to Precision Medicine. We provide recommendations to optimize their utilization to improve the global health and disease landscape and decrease inequalities.


Clinical Application of Computational Methods in Precision Oncology- A Review
OA Panagiotou et al, JAMA Oncology, May 14, 2020 (Posted: May-17-2020 7AM)

This review evaluates best practices for enabling responsible use of computational methods in the oncology clinic: data quality, data diversity, risk-based software as a medical device regulatory approval pathway, computational reproducibility, face validity, prospective clinical utility trials, training, and multidisciplinary boards.


A comprehensive germline variant and expression analyses of ACE2, TMPRSS2 and SARS-CoV-2 activator FURIN genes from the Middle East: Combating SARS-CoV-2 with precision medicine
F Al-Mulla et al, BIORXIV, May 16, 2020 (Posted: May-17-2020 7AM)


Being Precise About Precision Medicine: What Should Value Frameworks Incorporate to Address Precision Medicine? A Report of the Personalized Precision Medicine Special Interest Group.
Faulkner Eric et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 May 23(5) 529-539 (Posted: May-12-2020 3PM)


Progress in refining the clinical management of cancer of unknown primary in the molecular era
E Rassy et al, Nature Rev Clin Oncology, April 2020 (Posted: May-12-2020 9AM)

In this Review, we discuss the clinical management of cancer of unknown primary (CUP) in the era of precision medicine. We focus on the advances in understanding the biology of CUP, the implications for the diagnosis and classification of CUP according to the tissue of origin and the shift away from empirical therapy towards tailored therapy.


Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing–Based Tests: Challenges, Opportunities, and Potential Solutions
P Deverka et al, Value in Health, May 2020 (Posted: May-08-2020 9AM)

We identified 3 categories of innovation that may help address the current undersupply of RWE studies for NGS: (1) increasing use of RWE to inform outcomes-based contracting for new technologies, (2) precision medicine initiatives that integrate clinical and genomic data and enable data sharing, and (3) FDA reforms to encourage the use of RWE.


Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health
GQ Shaibi et al, Genetics in Medicine, May 6, 2020 (Posted: May-06-2020 10AM)

Challenges included the time lag between enrollment and returning actionable results, difficulty reaching participants, missed appointments, low health literacy, lack of health insurance, and reconciling results with limited information on family history. Social determinants influence implementation of genomic medicine in low resource settings.


Barriers and facilitators to dissemination and adoption of precision medicine among Hispanics/Latinos.
Canedo Juan R et al. BMC public health 2020 May 20(1) 603 (Posted: May-05-2020 4PM)


Genes and genomes and unnecessary complexity in precision medicine
RS Sing et al, NPJ Digital Medicine, May 4, 2020 (Posted: May-05-2020 7AM)


The evidence landscape in precision medicine.
Hey Spencer Phillips et al. Science translational medicine 2020 Apr (540) (Posted: Apr-24-2020 8AM)

Precision medicine is beginning to make an impact on the treatment of different diseases, but there are still challenges that must be overcome, such as the complexity of interventions, the need for marker validation, and the level of evidence necessary to demonstrate effectiveness. We describe how evidence landscapes can help to address these challenges.


Prediction Models - Development, Evaluation, and Clinical Application.
Pencina Michael J et al. The New England journal of medicine 2020 Apr (17) 1583-1586 (Posted: Apr-24-2020 8AM)

Prediction models’ newfound importance and the emergence of model development based on machine learning raise questions about how to ensure their safety and efficacy, given their growing role in risk stratification, care pathways, and clinical outcomes.


Clinical Genomics Data for Precision Medicine
S Garcia et al, Health IT Buzz, April 22, 2020 (Posted: Apr-23-2020 8AM)

Four organizations showed how genomic data can be exchanged for newborn screening, cancer treatment, pharmacogenomics, and bone marrow matching. The four organizations explored practical data transfer between genomic laboratories, healthcare providers, researchers, and patients.


Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care
SG Garcia et al, Appl Clin Informatics, April 2020 (Posted: Apr-23-2020 8AM)

The goals of Sync for Genes were to (1) demonstrate exchange of genomic data using health data standards, (2) provide feedback for refinement of health data standards, and (3) synthesize project experiences to support the integration of genomic data at the point-of-care and for research.


A precision medicine–based, ‘fast-fail’ approach for psychiatry
LM Williams et al, Nature Medicine, April 17, 2020 (Posted: Apr-18-2020 8AM)


NIMHD Transdisciplinary Collaborative Centers for Health Disparities Research Focused on Precision Medicine.
Rajapakse Nishadi et al. Ethnicity & disease 2020 30(Suppl 1) 135-136 (Posted: Apr-15-2020 10AM)


Precision Medicine Approaches to Health Disparities Research.
Griffith Derek M et al. Ethnicity & disease 2020 30(Suppl 1) 129-134 (Posted: Apr-15-2020 10AM)


Machine Learning Methods for Precision Medicine Research Designed to Reduce Health Disparities: A Structured Tutorial.
Basu Sanjay et al. Ethnicity & disease 2020 30(Suppl 1) 217-228 (Posted: Apr-15-2020 10AM)

We provide a structured tutorial for medical and public health researchers on the application of machine learning methods to conduct precision medicine research designed to reduce health disparities. We review key terms and concepts including supervised and unsupervised learning, regularization, cross-validation, bagging, and boosting.


A Framework for Advancing Precision Medicine in Clinical Trials for Mental Disorders
EJ Lenze et al, JAMA Psychiatry, March 26, 2020 (Posted: Mar-29-2020 8AM)

Getting the right treatment to the right patient is a frustrating goal in mental health: treatment is a trial-and-error endeavor, often yielding disappointing outcomes. Why? Traditional randomized clinical trials (RCTs) do not adequately capture the dynamic complexity of the brain and behavior during treatment.


Imprecise Data and Their Impact on Translational Research in Medicine
E Capobianco, Front in Medicine, March 2020 (Posted: Mar-23-2020 8AM)

As precision medicine remains subject to a substantial amount of data imprecision and lack of translational impact, a revision of methodological inference approaches is needed. Both the relevance and the usefulness of such revision crucially deal with the assimilation of data features dynamically interconnected.


Will Precision Medicine Lead to a Healthier Population?
R Cooper et al, Issues in Science & Technology, 2020 (Posted: Mar-21-2020 9AM)

The dominance of genomics in biomedical research today is driven by scientific theory and opportunity, but it is pushing science dangerously far from proven pathways to widespread health benefits.


Changing the Course of Cancer Care With Greater Precision
SY Zafar et al, JAMA Oncology, March 19, 2020 (Posted: Mar-20-2020 9AM)

Restructuring care delivery to meet individual needs of patients, just as we attempt to understand and manage the genetics of their cancers, is the shortest path to value-based cancer care. We propose expanding the concept of precision delivery to include patients, clinicians, data, and manufacturers.


FHIR Genomics: enabling standardization for precision medicine use cases
G Alterovitz et al, NPJ Genomic Medicine (Posted: Mar-20-2020 9AM)

Currently, most genetic test reports entered into the Electronic Health Record (EHR) are in PDF format.8 There is a great opportunity to expand functionality with the recently developed SMART platform utilizing the Fast Healthcare Interoperability Resources (FHIR) specification, enabling apps to be launched directly from within the EHR.


A Group-Mediated Approach to Precision Medicine-Social Identification, Prevention, and Treatment.
Beauchamp Mark R et al. JAMA psychiatry 2020 Feb (Posted: Feb-27-2020 7AM)

Precision medicine mostly focuses on genomics. There is emerging interest to screen for social risk factors in clinical settings, such as unemployment, food insecurity, partner violence, housing quality, and difficulty affording medication.


Genome-Wide Polygenic Score and Cardiovascular Outcomes With Evacetrapib in Patients With High-Risk Vascular Disease: A Nested Case-Control Study.
Emdin Connor A et al. Circulation. Genomic and precision medicine 2020 Feb (1) e002767 (Posted: Feb-25-2020 9AM)


New Precision Medicine Program to Study Role of Genomics in Disease
J Kent, Health IT Analytics, February 13, 2020 (Posted: Feb-17-2020 10AM)


NHGRI establishes new intramural precision health research program
NIH, February 2020 Brand (Posted: Feb-17-2020 10AM)

The National Human Genome Research Institute has announced plans to establish a new precision health research program within its Division of Intramural Research. The goal of the program is to develop and evaluate next-generation healthcare that uses cutting-edge genomic and informatic tools to improve the diagnosis, treatment and prevention of disease.


The role of public health in precision medicine
Interview with K Gebbo, All of Us, February 2020 (Posted: Feb-17-2020 10AM)

A lot of people have viewed this as a genetic study but from my perspective, it is not; it is a population study and we have both survey data and physical measurements, too. So, there are a number of other characteristics of this research program that I want to make sure people are aware of.


Bringing Personalized Medicine to Precision Medicine in Gastroesophageal Cancer
J Chao et al, JAMA Network Open, February 14, 2020 (Posted: Feb-17-2020 10AM)


An Emerging Paradigm for Germline Testing in Pancreatic Ductal Adenocarcinoma and Immediate Implications for Clinical Practice-A Review
M Rainone et al, JAMA Oncology, February 13, 2020 (Posted: Feb-14-2020 8AM)

With increasing evidence and slow improvement of outcomes, PDAC has entered the era of precision medicine. Germline mutations have been identified in key genes with an aggregate frequency of 3.8% to 9.7%, several of which are therapeutically actionable with platinum, PARPi, and checkpoint inhibitor therapy.


A 2020 Reality Check on the Public Health Impact of Cancer Genomics and Precision Medicine
Khoury MJ et al, CDC BLog, February 10, 2020 Brand (Posted: Feb-11-2020 9AM)

Precision oncology has had some major successes… And yet, the overall effect of precision medicine on care for patients with cancer has been modest. Nonetheless, it is important for public health to explore using novel and more precise approaches to monitor cancer burden, and implement proven cancer control goals especially in hard to reach populations


The application of big data to cardiovascular disease: paths to precision medicine.
Leopold Jane A et al. The Journal of clinical investigation 2020 Jan (1) 29-38 (Posted: Feb-07-2020 8AM)


A precision medicine–based strategy for a severe adverse drug reaction
MR Mack et al, Nature Medicine, February 3, 2020 (Posted: Feb-04-2020 9AM)


Contributions of the UK biobank high impact papers in the era of precision medicine.
Glynn Peter et al. European journal of epidemiology 2020 Jan (Posted: Feb-02-2020 9AM)

In this assessment of the first 7 years of the UK Biobank and first 4 years of genetic data availability, the majority of high impact UK Biobank studies either replicated known associations or generated novel associations without clinically relevant improvements in risk prediction, screening, or treatment.


Addressing Disparities Will Advance Genomics, Precision Medicine,
by Jessica Kent, Health It Analytics, January 27, 2020 (Posted: Jan-29-2020 8AM)


Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou Ying-Chen Claire et al. Proceedings of the National Academy of Sciences of the United States of America 2020 Jan (Posted: Jan-29-2020 8AM)

Genome sequencing has established clinical utility for rare disease diagnosis. While increasing numbers of individuals have undergone elective genome sequencing, a comprehensive study surveying genome-wide disease-associated genes in adults with deep phenotyping has not been reported


Reducing the Global Public Health Burden of Familial Hypercholesterolemia: More Work Ahead
MJ Khoury et al, CDC Blog, January 21 2020 Brand (Posted: Jan-21-2020 1PM)

Historically, FH has served as a paradigm for the role of cholesterol in heart disease. FH now also serve as a paradigm for bringing together the strengths of both public health and precision medicine approaches to health. The recommendations of this international group highlight the importance of integrating FH care in health systems with a lifelong approach to care


Molecular profiling for precision cancer therapies.
Malone Eoghan R et al. Genome medicine 2020 Jan (1) 8 (Posted: Jan-17-2020 8AM)

We describe novel molecular characterization strategies beyond tumor DNA sequencing, such as transcriptomics, immunophenotyping, epigenetic profiling, and single-cell analyses. We also review current and potential applications of liquid biopsies to evaluate blood-based biomarkers.


2019 FH Global Summit Presentation Slides
The FH Foundation, January 2020 (Posted: Jan-15-2020 8AM)

The 7th annual FH Global Summit was held in Atlanta, Georgia from October 20-21 and focused on familial hypercholesterolemia as a prototype for precision public health. Over 280 interdisciplinary participants including experts in FH, genomics, precision medicine, as well as healthcare practitioners, individuals with FH and industry attended.


Cancer in sub-Saharan Africa.
Rebbeck Timothy R et al. Science (New York, N.Y.) 2020 01 (6473) 27-28 (Posted: Jan-13-2020 9AM)

The World Economic Forum has initiated a “Leapfrogging with Precision Medicine” initiative that will advance the use of genetics and genomics in cancer prevention and treatment. These and many other institutions and activities have the potential to develop the knowledge and sustainable resources needed to address the cancer burden in Sub Saharan Africa.


Precision Medicine and Artificial Intelligence: A Pilot Study on Deep Learning for Hypoglycemic Events Detection based on ECG
M Porumb et al, Scientific Reports, January 13, 2020 (Posted: Jan-13-2020 9AM)

The current study used personalised medicine approach and Artificial Intelligence (AI) to automatically detect nocturnal hypoglycemia using a few heartbeats of raw ECG signal recorded with non-invasive, wearable devices, in healthy individuals, monitored 24?hours for 14 consecutive days.


In defence of ‘imprecise’ medicine: the benefits of routine treatments for common diseases
The Conversation, January 9, 2020 (Posted: Jan-10-2020 8AM)

It’s hard not to conclude that the nation’s health would be better served if we aspire to be a global leader in the standardization of care for common serious diseases. Let’s not let the current enthusiasm for precision medicine blind us to the benefits of the “imprecise” medicine we know saves millions of lives every year.


How a growing trove of genetic data is informing medical breakthroughs
PBS Newshour, January 9, 2020 (Posted: Jan-10-2020 8AM)

Individualized medicine, in which treatments are customized based on a patient’s unique DNA, is a rising field. Along with an ever-expanding genetic database, it offers tantalizing promise for solving some of medicine's most daunting challenges. But individualized medicine also carries with it questions and risks -- both moral and medical.


Two Threats to Precision Medicine Equity.
Matthew Dayna Bowen et al. Ethnicity & disease 2019 29(Suppl 3) 629-640 (Posted: Jan-02-2020 10AM)


How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?
Wolf Susan M et al. Ethnicity & disease 2019 29(Suppl 3) 623-628 (Posted: Jan-02-2020 10AM)

Legal barriers limit use of precision medicine to advance health equity. Problems include inadequate privacy and anti-discrimination protections for research participants, lack of health coverage and funding for follow-up care, failure to use law to ensure access to genomic medicine, and practices by research sponsors that tolerate and entrench disparities.


Pharmacoepidemiology and Big Data Analytics: Challenges and Opportunities when Moving towards Precision Medicine.
Burden Andrea M et al. Chimia 2019 Dec 73(12) 1012-1017 (Posted: Jan-02-2020 9AM)

Pharmacoepidemiology is the study of the safety and effectiveness of medications following market approval. The increased availability and size of healthcare utilization databases allows for the study of rare adverse events, sub-group analyses, and long-term follow-up. These datasets are large, including thousands of patient records spanning multiple years.


Precision medicine has a blind spot: children with cancer
G Nichols, StatNews, December 30, 2019 (Posted: Dec-31-2019 9AM)

Precision medicine, the concept of giving the right treatment to the right patient at the right time, is flourishing in cancer treatment. But there is a blind spot: children are not benefiting enough from the progress we’re making.


The role of race and ethnicity in views toward and participation in genetic studies and precision medicine research in the United States: A systematic review of qualitative and quantitative studies.
Fisher Elena R et al. Molecular genetics & genomic medicine 2019 Dec e1099 (Posted: Dec-30-2019 9AM)

Understanding of genetics was low, yet the majority of participants were willing to participate in genetic research among all populations included in the literature. Recommendations for research included utilizing community-based participatory approaches, evaluating participants' informational needs, incentivizing participation, and providing direct benefits.


Law, Genomic Medicine and Health Equity
Ethnicity and Disease, suppl 2019 (Posted: Dec-16-2019 7AM)

This special supplement to Ethnicity & Disease offers research and commentaries on how law can support the development of genomic and precision medicine in advancing health equity.


Two Threats to Precision Medicine Equity
DB Matthews, Ethnicity and Disease, suppl, 2019 (Posted: Dec-16-2019 7AM)


How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?
SM Wolfe et al, Ethnicity and Disease, suppl 2019 (Posted: Dec-16-2019 7AM)

Multiple legal barriers limit broad inclusion in genomic research and the development of precision medicine to advance health equity. Problems include inadequate privacy and anti-discrimination protections for re­search participants, lack of health coverage, failure to use law to ensure access, and practices by research sponsors that entrench disparities.


Looking forward 25 years: the future of medicine
Nature Medicine editorial, December 5, 2019 (Posted: Dec-09-2019 8AM)

We are now on the cusp of an inflection point, where the ‘bigness’ of biomedicine turns into an advantage. We are beginning to see advances towards these goals, in polygenic risk scores, in understanding the cell and modules of action of genes. Going forward, our success in harnessing bigness will rely on our ability to leverage structure, prediction and data scale.


The cost of getting personal
Nature editorial (Posted: Dec-09-2019 8AM)

The recent report of an antisense oligonucleotide therapy designed for only one patient spotlights regulatory, economic and ethical issues that must be grappled with in an era of accelerated development of ‘ultra-personalized’ drugs.


Progress Toward Precision Medicine in Frontline Treatment of Metastatic Renal Cell Carcinoma.
Singla Nirmish et al. JAMA oncology 2019 Dec (Posted: Dec-06-2019 8AM)

As molecular understanding of cancer biology evolves, precision medicine will play a growing role in guiding therapy. This is certainly evident in the case of metastatic renal cell carcinoma (mRCC), which is inherently a heterogeneous tumor type on both clinical and molecular levels.


Personalized, Precision, and <i>N</i>-of-One Medicine: A Clarification of Terminology and Concepts.
Huang Sui et al. Perspectives in biology and medicine 2019 62(4) 617-639 (Posted: Dec-04-2019 9AM)

If response to treatment is different in two patients with the same diagnosis, is this because they suffer from two distinct subtypes of a disease, or because they differ in the physiology that manifests the same disease? Such questions have evoked terms, such as personalized, precision, or "N-of-one" medicine, creating potential for confusion.


Clinical Practice Settings vs Clinical Trials: Is Artificial Intelligence the Answer?
Jampol Lee Merrill et al. JAMA ophthalmology 2019 Nov (Posted: Dec-04-2019 9AM)

Artificial intelligence with deep learning could take real-world patient management forward (for a population or an individual) and may introduce precision medicine into the care of retinal diseases.


Precision public health emerging as a discipline
JK COhen, Modern Healthcare, November 30, 2019 (Posted: Dec-02-2019 8AM)

A new buzzword has crept into the health sciences lexicon: precision public health. By mixing the technical advancements of precision medicine with the goals of public health, practitioners they can improve health at the population level. A quick search on the PubMed for “precision public health” suggests the term is catching on, returning 75 articles since 2016.


Precision Medicine and Precision Public Health in the Era of Pathogen Next-Generation Sequencing
R Leguia et al, J Infectious Dis, November 2019 (Posted: Nov-24-2019 7AM)

We briefly discuss the history of NGS technologies and describe how the techniques developed during the past 40 years have impacted our understanding of infectious diseases. Beyond obvious clinical and public health applications, we also discuss the challenges that still remain within this rapidly evolving field.


Artificial intelligence for precision medicine in neurodevelopmental disorders
M Uddin et al, NPJ Digital Medicine, November 21, 2019 (Posted: Nov-22-2019 8AM)

Much hope is pinned on the opportunity to quantify risk from patterns of genomic variation, including the functional characterization of genes and variants, but this ambition is confounded by phenotypic and etiologic heterogeneity, along with the rare and variable penetrant nature of the underlying risk variants identified.


Biomarker-Driven Oncology Clinical Trials: Key Design Elements, Types, Features, and Practical Considerations
C Hu et al, JCO Precision Oncology, October 2019 (Posted: Nov-22-2019 8AM)

Here we provide a concise overview of design options for both the setting of single-biomarker/single-disease and the setting of multiple-biomarker/multiple-disease types. We focus on explaining the trial design and practical considerations and rationale of when to use which designs, as well as how to incorporate various adaptive design components.


In Precision Medicine, ‘We Need Dialogue Across Disciplines’
Boston University School of Public Health, November 2019 (Posted: Nov-20-2019 9AM)

Precision medicine is often reduced to being all about genetics, but I think that’s a misread on how it was originally conceived. When I think about the promise of precision, it’s the ability to harness tools in a wide variety of research activities that will improve the way we deliver care in the clinical setting, and the way we think about population health.


Qualifying and quantifying the precision medicine rhetoric.
Lee Jasmine et al. BMC genomics 2019 Nov 20(1) 868 (Posted: Nov-20-2019 8AM)

To our knowledge, this is the first study to map and qualify the global precision medicine landscape. Our findings reveal that precision medicine efforts range from large model cohort studies involving multidimensional, longitudinal data to biorepositories with a collection of blood samples.


Impact of Precision Medicine on Efficiencies of Novel Drug Development in Cancer
H Sarvas et al, JNCI, November 2019 (Posted: Nov-17-2019 7AM)

Precision medicine offers opportunities for reducing the costs, burdens, and time associated with drug development. We examined time, number of trials, indications tested and patient burden needed to achieve first FDA license for all 5 novel anti-cancer precision-medicine drugs and all 10 novel non-precision medicine drugs receiving FDA approval 2010-2014


Advancing Personalized Medicine Through Prediction
AR Localio et al, Annals of Internal Medicine, November 12, 2019 (Posted: Nov-13-2019 8AM)


The Predictive Approaches to Treatment effect Heterogeneity (PATH) Statement
DM Kent et al, Annals of Internal Medicine (Posted: Nov-13-2019 8AM)

The PATH (Predictive Approaches to Treatment effect Heterogeneity) Statement was developed using a multidisciplinary technical expert panel, targeted literature reviews, simulations to characterize potential problems with predictive approaches, and a deliberative process engaging the expert panel.


Precision medicine: The future of diagnostic approach to pulmonary hypertension?
Kedzierski Piotr et al. Anatolian journal of cardiology 2019 Sep (4) 168-171 (Posted: Nov-06-2019 9AM)


Cancer researchers embrace AI to accelerate development of precision medicine
J Roach, the AI Blog, October 27, 2019 (Posted: Oct-29-2019 9AM)

Biomedical researchers are embracing artificial intelligence to accelerate the implementation of cancer treatments that target patients’ specific genomic profiles. To harness this potential, researchers developed the Clinical Knowledgebase, or CKB, is a searchable database where subject matter experts store, sort and interpret complex genomic data.


Vision of the Future of Medical Science
Francis Collins, Time, October 25, 2019 (Posted: Oct-27-2019 11AM)

Among the many efforts now poised to change the future of health are those to harness the power of gene editing, expand the reach of cancer immunotherapy, map the human brain and build a solid foundation for a more individualized approach to health care, often called precision medicine.


New Case Detection by Cascade Testing in Familial Hypercholesterolemia: A Systematic Review of the Literature.
Lee Christopher et al. Circulation. Genomic and precision medicine 2019 Oct (Posted: Oct-24-2019 8AM)

We conducted a systematic review of published studies of cascade testing for FH which reported number of index cases and number of relatives tested and specified methods of contacting relatives and testing modalities methods utilized. For each study we calculated yield (proportion of relatives who test positive) and new cases per index case.


One Little Girl’s Story Highlights the Promise of Precision Medicine
F Collins, NIH director's blog, October 23, 2019 Brand (Posted: Oct-24-2019 8AM)

No treatment existed for Mila’s condition. So, in an effort to meet that urgent need, Timothy Yu and his colleagues at Boston Children’s Hospital set forth on a bold and unprecedented course of action. In less than a year, they designed a drug that targeted Mila’s unique mutation.


Enhancing Observational Data Collection to Inform Precision Cancer Research and Care
DCCPS, NCI, October 2019 Brand (Posted: Oct-22-2019 11AM)

DCCPS supports research in surveillance, epidemiology, health care delivery, behavioral science, and cancer survivorship. It is a source of expertise and evidence on issues such as the quality of cancer care, the economic burden of cancer, geographic information systems, statistical methods, communication, behavioral research and health care delivery.


NIH’s All of Us Partners with HudsonAlpha on Long-Read Sequencing Project
Clinical Omics, October 18, 2019 (Posted: Oct-21-2019 10AM)

The NIH’s All of Us Research Program will assess the use of DNA sequencing technologies for diagnosis and treatment of common and rare diseases. The project will use long-read whole genome sequencing technologies to generate genetic data on about 6,000 samples from participants of different backgrounds.


Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease
E Fotieu et al, Circulation Genomics and Precision Medicine, October 2019 (Posted: Oct-19-2019 7AM)

We compared copy number variants present in 4634 nonsyndromic CHD cases derived from publicly available data resources and the literature, and >27?000 healthy individuals. We analyzed deletions and duplications independently and identified copy number variant regions exclusive to cases. These data were integrated with whole-exome sequencing data.


A systems approach to clinical oncology uses deep phenotyping to deliver personalized care
JT Yurkovich et al, Nature Rev Oncology, October 2019 (Posted: Oct-19-2019 7AM)


Understanding Precision Medicine And AI Within The Life Cycle Of Technology Revolutions
D Shaywitz, Forbes, October 16, 2019 (Posted: Oct-17-2019 9AM)


Precision medicine in pancreatic cancer: treating every patient as an exception.
Herbst Brian et al. The lancet. Gastroenterology & hepatology 2019 Oct (10) 805-810 (Posted: Oct-16-2019 6AM)

Patients with pancreatic cancer have not benefited from recent improvements in overall survival brought about by precision medicine in other malignancies. This failure is not due to a dearth of precision-medicine research in pancreatic ductal adenocarcinoma (PDAC), the main type of pancreatic cancer.


Microbiome research needs a gut check
T Caulfield, The Globe and Mail, October 10, 2019 (Posted: Oct-13-2019 1PM)

It happened with stem-cell research. Ditto genetics and precision medicine. And now we are seeing it play out with microbiome research. Good science is being exploited to market bunk products and ideas. Gut hype is everywhere.


New Precision Medicine Treatment Could Benefit Many Men with Treatment-Resistant Metastatic Prostate Cancer
by Andrea K. Miyahira, Prostate Cancer Foundation, October 1, 2019 (Posted: Oct-11-2019 8AM)

A new study reported positive results from a Phase 3 clinical trial testing the PARP-inhibitor olaparib (Lynparza) in patients with metastatic castration-resistant prostate cancer (mCRPC) who have alterations in certain DNA damage repair (DDR) genes; a result which will likely lead to a new FDA-approval. Roughly 20-30% of mCRPC patients harbor these DDR gene mutations in their tumors and thus may benefit from PARP-inhibition.


Family Health History: The First Genetic Test in Precision Medicine.
Bennett Robin L et al. The Medical clinics of North America 2019 Nov 103(6) 957-966 (Posted: Oct-09-2019 8AM)

The collection of family history has always been a tool for genetic evaluation, but it remains an essential tool even in the age of genomic medicine. Patients may have a risk for a disease based on family history regardless of the results of genetic and genomic tests.


Cases in Precision Medicine: APOL1 and Genetic Testing in the Evaluation of Chronic Kidney Disease and Potential Transplant.
Neugut Y Dana et al. Annals of internal medicine 2019 Oct (Posted: Oct-09-2019 8AM)

This article discusses potential indications for genetic testing in an African American patient with chronic kidney disease who is being evaluated for a kidney transplant. Two known risk variants in the APOL1 (apolipoprotein L1) gene predispose to kidney disease and are found almost exclusively in persons of African ancestry.


Precision Public Health: One- stop shop for data and datasets for precision public health research
University of Florida Library, catalog of resources and datasets, 2019 (Posted: Oct-05-2019 8AM)

Precision medicine ushers in a new era of biomedical research and health care applications. These same technologies also guide precision public health. In a research setting Precision public health can be used to create programs and deliver interventions that are tailored to underserved community groups and improve health outcomes.


Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms
M Bachtiar et al, The Pharmacogenomics Journal, October 3, 2019 (Posted: Oct-04-2019 9AM)


The Promise and the Reality of Genomics to Guide Precision Medicine in Pediatric Oncology: The Decade Ahead.
Evans William E et al. Clinical pharmacology and therapeutics 2019 Sep (Posted: Oct-02-2019 8AM)

Much has been written about the promise of "precision medicine", especially in oncology, where somatic mutations can influence the response of cancer cells to "targeted therapy". There have been successful examples of targeted therapy improving the outcome of some childhood cancers.


Will genome sequencing bring precision medicine for all?
A Anthony, The Guardian, September 28, 2019 (Posted: Sep-30-2019 8AM)

There are conditions, particularly rare diseases such as childhood developmental disorders, where genome sequencing is extremely beneficial, and may even be life-saving for some individuals. There are also conditions – many common diseases, for example – where there is currently no evidence that genome sequencing is beneficial to individuals.


Translational genomics and precision medicine: Moving from the lab to the clinic
E Zeggini et al, Science, September 27, 2019 (Posted: Sep-28-2019 8AM)

Translational genomics aims to improve human health by building on discoveries made through genetics research and applying them in the clinical setting. This progress has been made possible by technological advances in genomics and analytics and by the digital revolution.


How Public Health Can Learn From and Inform the Precision Medicine All of Us Research Program?
CDC Public Health Genomics Seminar, November 21, 2019 Brand (Posted: Sep-23-2019 8AM)

Join us to learn more about the All of Us research program, better understand how the approaches used to recruit All of Us participants can inform future public health efforts to address diversity, and share your expertise in increasing diverse participation in your own public health work.


Clinical Molecular Marker Testing Data Capture to Promote Precision Medicine Research Within the Cancer Research Network
AN Burnett-Hartmann et al, JCO Clin Cancer Informatics, September 2019 (Posted: Sep-22-2019 0PM)

Even in health care systems with sophisticated electronic health records, there were few codified data elements available for evaluating precision cancer medicine test use and results at the population level. Health care organizations should establish standards for electronic reporting of precision medicine tests.


Genetic Counseling and Public Health in the Era of Precision Medicine
MJ Khoury, CDC Blog, September 18, 2019 Brand (Posted: Sep-19-2019 9AM)

As more genetic counselors make a leap from individual patient care to population health concerns including implementation and disparities, genetic counselors will help enhance the public’s genetic awareness and literacy about genomics and family health history, contribute to policy, evaluation and implementation, and drive the overall success of genomic medicine.


Genetic underpinnings of recovery after stroke: an opportunity for gene discovery, risk stratification, and precision medicine.
Acosta Julián N et al. Genome medicine 2019 Sep (1) 58 (Posted: Sep-18-2019 9AM)


Cancer Patients Have Limited Understanding of Genomic Test Results
Health Analytics, September 2019 (Posted: Sep-18-2019 9AM)

A majority of patients with cancer don’t understand critical features of the genomic test results they receive when participating in clinical trials, according to a pilot study conducted under the Lung Cancer Master Protocol (Lung-MAP), the first lung cancer precision medicine trial supported by the National Cancer Institute (NCI).


Seeking More Precision in Public Health
K. Bibbins-Domingo CDC Seminar, October 22 at 1 pm. Brand (Posted: Sep-16-2019 9AM)

While precision medicine has made advances in individualized patient treatments, progress at the population level requires a public health approach focused on tailored population health and prevention strategies and driven by “big data” approaches. Inclusion of diverse populations and a focus on disparities reduction are key components.


All of Us SouthEast Enrollment Center
All of Us, 2019 (Posted: Sep-14-2019 9AM)


How precision medicine and screening with big data could increase overdiagnosis
H Vogt, BMJ, September 13, 2019 (Posted: Sep-14-2019 8AM)

Precision medicine promises to improve disease prevention but entails a massive, new form of screening. The wide scope of big data screening risks increased detection of abnormalities that will never be clinically relevant. We need a clearer understanding of the natural course of multiple markers and the value of repeated measurement of markers.


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Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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