Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Hot Topics of the Day|PHGKB
Search PHGKB:

Archive

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.

Sign up MyPHGKB to receive the daily hot topic email alert.

Search Archive:
Archived Hot Topics of the Day By Date
285 hot topic(s) found with the query "Education"

The acceptability and clinical impact of using polygenic scores for risk-estimation of common cancers in primary care: a systematic review
(Posted: May 24, 2024 9AM)

From the abstract: "A total of 190 papers were identified, 18 of which were eligible for inclusion. A cancer risk-assessment tool incorporating PGS was acceptable to the general practice population and their healthcare providers but major challenges to implementation were identified, including lack of evidence for PGS in non-European ancestry and a need for healthcare provider education in genomic medicine. A PGS cancer risk-assessment had relatively limited impact on psychosocial outcomes and health behaviours. However, for prostate cancer, potential applications for its use in primary care were shown. "


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. "


Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
Rebekah L Waikel et al. JAMA Netw Open 2024 3 (3) e242609 (Posted: Mar 18, 2024 3PM)

From the abstract: " In this comparative effectiveness study, generative methods were used to create images of fake but realistic-appearing individuals with Kabuki and Noonan syndrome. Through online surveys, generated images were found to help residents recognize these syndromes and improved their confidence in this area compared with text-only descriptions, although real images were most helpful. These findings suggest that generative artificial intelligence could supplement genetics education for pediatric residents by helping teach the recognition of rare conditions. "


Thirty-year of genetic counselling education in Europe: a growing professional area
M Paneque et al, EJHG, February 15, 2024 (Posted: Feb 15, 2024 9AM)

From the abstract: "Genetic counselling education and training in Europe spans a continuum of 30 years. More master programs are opening due the demand for qualified genetic counselors. This report describes the evolution of training in Europe and the current state of genetic counselling training programs. Up to May 2022, 710 students have graduated from genetic counseling training programs across Europe. Of these, 670 students graduated from European Board of Medical Genetics-registered programs. Arranging clinical placements, clinical and counseling supervision of students, research collaboration for MSc research projects and incorporating genomics into the curriculum were identified as current challenges for genetic counseling education. "


Next Generation Public Health Genomics: A Call to Assess the Equitable Implementation, Population Health Impact, and Sustainability of Precision Public Health Applications
MC Roberts et al, Public Health Genomics, December 22, 2023 (Posted: Dec 22, 2023 10AM)

From the article: "The field of Public Health Genomics recently celebrated its twenty-fifth anniversary. Defined by the CDC as responsible and effective translation of genome-based knowledge and technologies for the benefit of population health, public health genomics applications have expanded beyond newborn screening to other applications poised to improve public health. Yet despite the promise and potential for public health genomics, the population health impact and sustainability of public health genomics applications has yet to be fully measured and achieved. Further access to public health genomics applications has been lower among underrepresented racial and ethnic communities, rural communities, and groups with lower education and income, deepening concerns that the field could exacerbate rather than redress health inequities. "


Neighborhood Deprivation Measures and DNA Methylation Clocks-Understanding the Real Needs of Each Person.
Benjamin D Horne et al. JAMA Netw Open 2023 11 (11) e2344688 (Posted: Dec 02, 2023 9AM)

From the article: " A recent study reports a unique and powerful approach for finding neighborhood factors marking risks of early death and disease.4 Measurement of racial segregation using spatial clustering methods and separating that from economic deprivation (and education) aid in clarifying the sources of health concerns. The study uses methylation patterns which can be remodeled by many factors such as smoking, physical activity, diet, infection, and stressors from the childhood environment (eg, lack of loving adult support, malnutrition), adverse living conditions (eg, noise pollution, particulate matter air pollution), and poor interactions with others (eg, emotional or physical abuse). "


Distilling causality between physical activity traits and obesity via Mendelian randomization.
Zhe Wang et al. Commun Med (Lond) 2023 11 (1) 173 (Posted: Dec 02, 2023 8AM)

From the abstract: "Whether obesity is a cause or consequence of low physical activity levels and more sedentary time has not yet been fully elucidated. Better instrumental variables and a more thorough consideration of potential confounding variables that may influence the causal inference between physical activity and obesity are needed. This MR study highlights the beneficial effect of education on improved health and suggest that a more physically active lifestyle leads to lower BMI, while sedentary behavior is a consequence of higher BMI."


Digital health tools in genomics: Advancing diversity, equity and inclusion
D Assamad et al, Public Health Genomics, November 2023 (Posted: Nov 02, 2023 9AM)

From the paper: "Patient-facing digital genomic tools are increasingly being used to facilitate the delivery of genetics services including patient intake, phenotyping, education, counseling, and result reporting. A recent systematic review found that digital tools improved the workflow of genetics providers and service efficiencies. Existing data on patient experiences also demonstrate high acceptance of pre-test digital tools across various contexts, with most patients endorsing and expressing high levels of satisfaction with these tools. However, a closer examination of digital genomic tools reveals a concerning lack of consideration for diversity, equity, and inclusion (DEI) principles in their design, evaluation, and implementation within health systems [ "


Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
E Bluvas, Medical Xpress, August 2023 (Posted: Sep 01, 2023 0PM)

From the article: A recent study "conducted comprehensive, best-practice clinical autism diagnostic assessments in young males (ages 15-24) with fragile X syndrome (i.e., the most common single-gene cause of autism spectrum disorder and other intellectual disabilities). The study found that, although 75 percent of participants met criteria for autism through the research protocol, only 31 percent had been identified as having autism in the community."


Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
C Kraan et al, Genetics in Med Open, August 26, 2023 (Posted: Aug 29, 2023 11AM)

From the abstract: "Clear understanding of mental health phenotypes and associated socioeconomic, physical health and wellbeing impacts in adult women with an FMR1 premutation (PM) is needed for counselling and primary healthcare. This is a survey of 137 participants. Depression was found in ~30% and social anxiety in ~38%. With depression status the outcome variable, strongest associations were for low education, diagnosis of migraine, diagnosis of irritable bowel syndrome (IBS) and self-reported hearing loss symptoms."


Grand challenges in bioinformatics education and training.
Esra Büsra Isik et al. Nat Biotechnol 2023 8 (8) 1171-1174 (Posted: Aug 25, 2023 2PM)

From the paper: "The life and health science communities are facing a critical challenge with managing a discovery process that is becoming ever more quantitative and data driven. Key to meeting this challenge is bioinformatics — which can be defined as the science of collecting, managing, analyzing, modeling and generating predictions from large amounts of biological data and information. Bioinformatics is a highly interdisciplinary field involving expertise from many specialties."


We need a genomics-savvy healthcare workforce
Nature Medicine, August 16, 2023 (Posted: Aug 17, 2023 11AM)

The increasingly central role of genomics in healthcare means that not only are more genetic counselors needed, but also multidisciplinary teams are essential for utilizing genomic technologies in the clinical setting. Genomic tests (such as those based on whole-exome or whole-genome sequencing) generate an enormous amount of highly complex data, which requires professionals with specialized bioinformatic skills and the know-how to operate within clinically accredited frameworks. In addition, although genomics is currently the most common ‘-omic’ used in the clinic, transcriptomics and proteomics are also being incorporated into algorithms to inform clinical practice.


Get up to Speed on the Latest Developments in the Field! Register for the ORISE Current Issues in Genomics and Precision Public Health Online Training Event, September 7–8, 2023.
W White et al, CDC Blog Post, August 9, 2023 (Posted: Aug 09, 2023 11AM)

Advances in genomics, data science, machine learning, and artificial intelligence are transforming practice. Next generation public health and medical workforces need to understand these developments and how they can be used to benefit population health. Recognizing this challenge, Oak Ridge Institute for Science and Education (ORISE) is partnering with the Office of Genomics and Precision Public Health at the Centers for Disease Control and Prevention (CDC) to offer a free 2-day in-person training event covering the latest developments in these fields: Current Issues in Genomics and Precision Public Health – Using Genomics and Big Data to Improve Population Health and Reduce Health Inequities.


AI and Medical Education — A 21st-Century Pandora’s Box
A Cooper et al, NEJM, August 3, 2023 (Posted: Aug 02, 2023 6PM)

Many valid concerns have been raised about AI’s effects on medicine, including the propensity for AI to make up information that it then presents as fact (termed a “hallucination”), its implications for patient privacy, and the risk of biases being baked into source data. But we worry that the focus on these immediate challenges obscures many of the broader implications that AI could have for medical education — in particular, the ways in which this technology could affect the thought structures and practice patterns of medical trainees and physicians for generations to come.


New Sickle Cell 101 campaign aims to raise sickle cell trait awareness
AS Lobo, Sickel Cell News, July 20, 2023 (Posted: Jul 24, 2023 11AM)

The Sickle Cell Trait Awareness and Hydration Campaign is part of the nonprofit’s annual summer efforts to provide important information and educate others about SCD and related conditions. The nonprofit bills itself as “the largest global online platform solely dedicated to sickle cell education, awareness and research.” The focus of this year’s campaign is the sickle cell trait and the importance of hydration, especially for athletes. The campaign is sharing research on the possible complications related to sickle cell trait and offers webinars and educational sessions on the Sickle Cell 101 digital platforms.


The causal effects of education on adult health, mortality and income: evidence from Mendelian randomization and the raising of the school leaving age.
Neil M Davies et al. Int J Epidemiol 2023 7 (Posted: Jul 23, 2023 9AM)

On average, educated people are healthier, wealthier and have higher life expectancy than those with less education. Numerous studies have attempted to determine whether education causes differences in later health outcomes or whether another factor ultimately causes differences in education and subsequent outcomes. Previous studies have used a range of natural experiments to provide causal evidence. Here we compare two natural experiments: a policy reform, raising the school leaving age in the UK in 1972; and Mendelian randomization.


Genomics and Precision Public Health Issues Enrichment Event
Oak Ridge Institute for Science Education Enrichment Event, Atlanta, Georgia, September 7-8, 2023 Brand (Posted: Jul 17, 2023 8AM)

In the past decade, genomics, and precision health approaches such as big data science and machine learning have emerged as important tools for public health. Those entering the public health and medical workforces must keep pace with these evolving fields to maximize the benefit to public health. Recognizing this need, ORISE is partnering with the Office of Genomics and Precision Public Health at the Centers for Disease Control and Prevention to offer a two-day in-person enrichment event covering the latest developments in these fields.


Mendelian randomization evidence for the causal effects of socio-economic inequality on human longevity among Europeans.
Chao-Jie Ye et al. Nat Hum Behav 2023 6 (Posted: Jul 03, 2023 8AM)

Here we performed two-sample Mendelian randomization analyses applying genetic instruments of education, income and occupation (n?=?248,847 to 1,131,881) to estimate their causal effects and consequences on parental lifespan and self-longevity (n?=?28,967 to 1,012,240) from the largest available genome-wide association studies in populations of European ancestry. Each 4.20 years of additional educational attainment were causally associated with a 3.23-year-longer parental lifespan independently of income and occupation and were causally associated with 30–59% higher odds of self-longevity.


Improving Identification of Tic Disorders
CDC, June 2023 Brand (Posted: Jun 14, 2023 8AM)

CDC has partnered with the American Academy of Pediatrics (AAP) to develop and offer free virtual trainings on tic disorders. Trainings are available on AAP’s Professional Education (PediaLink) website and qualify for continuing education credits for pediatricians. Training content includes a two-part course: Caring for Children and Adolescents with Tourette Syndrome; Tourette Syndrome and Beyond: Reducing Disparities and Understanding Tic-Related Conditions


Direct-to-Consumer Genetic Testing
NHGRI, June 2023 Brand (Posted: Jun 05, 2023 10AM)

The Direct-to-Consumer Genetic Testing (DTC-GT) Project Group of the Inter-Society Coordinating Committee for Practitioner Education in Genomics has created a DTC-GT Frequently Asked Questions (FAQ) resource designed for the general clinician who may see patients requesting guidance on DTC-GT. This FAQ is intended to help healthcare professionals understand the diverse landscape of DTC-GT, the benefits and limitations of these tests and how results of DTC-GT may affect their patients’ health, wellness and medical decision making.


Genomic Sequencing: A Decade to a Day
Genomics Education UK, June 2, 2023 (Posted: Jun 04, 2023 2PM)

Curiosity, patience, and the humble pea plant are three fundamental factors that have allowed us to sequence an entire human genome in 24 hours The impact that the exponential growth of technology has had on genomics in the last twenty years is dizzying. But how did we get here today? It’s worth taking a quick break from the here and now to consider the path paved by numerous scientists over the last 150 years that has brought us to a point in history where genome sequencing is revolutionizing healthcare.


Education and Electronic Medical Records and Genomics Network, Challenges and Lessons Learned from a Large-Scale Clinical Trial Using Polygenic Risk Scores
JJ Connolly et al, Genet Med, May 26, 2023 (Posted: May 27, 2023 6AM)

The electronic Medical Records and Genomics (eMERGE) Network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants. All participants will receive a risk report, potentially classifying them as high risk (~2-10% per condition) for one or more of 10 conditions based on PRS. The study population is enriched by participants from racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes.


Barriers to Genetic Testing in Vascular Malformations
AJ Borst et al, JAMA Network Open, May 23, 2023 (Posted: May 23, 2023 2PM)

What are the barriers to obtaining genetic information for patients with vascular malformation (VM)? In this survey study of 55 vascular anomaly specialists (primarily pediatric hematologists-oncologists), barriers to genetic testing for VM were identified across vascular anomaly centers of all sizes, including lack of administrative support; unclear institutional, insurance, and laboratory requirements; and lack of clinician education.


Digital interventions for genomics and genetics education, empowerment, and service engagement: A systematic review.
Norina Gasteiger et al. J Community Genet 2023 5 (Posted: May 21, 2023 8AM)

Patient-facing digital technologies may reduce barriers to and alleviate the burden on genetics services. However, no work has synthesised the evidence for patient-facing digital interventions for genomics/genetics education and empowerment, or to facilitate service engagement more broadly. It is also unclear which groups have been engaged by digital interventions. This systematic review found insufficient evidence related to empowering patients and engaging underserved communities or consanguineous couples. Future work should focus on co-developing content with end users and incorporating interactive features.


Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.
Emily G Miller et al. JAMA Netw Open 2023 5 (5) e2310367 (Posted: May 06, 2023 7AM)

n this systematic review of 52 studies with 13?251 eligible participants, sex or gender was the most frequently reported demographic characteristic, followed by race and ethnicity, education, and income. Participants were disproportionately women or female (71%), White (76%), had a college degree or higher education (65%), and reported income above the US median (67%). These findings suggest that the current literature on the personal utility of genetics and genomics underrepresents the perspectives of individuals with diverse demographic backgrounds.


Knowledge and attitudes of medical and pharmacy students about pharmacogenomics: a systematic review and meta-analysis.
Chen Li et al. Pharmacogenomics J 2023 5 (Posted: May 05, 2023 10AM)

Fifteen studies (5509 students; 69% [95% confidence interval (CI): 60%, 77%] females) were included. Among students, 28% [95%CI: 12, 46] had adequate PGx knowledge; 65% [95%CI: 55, 75] were willing to have PGx test for their own risk assessment; 78% [95%CI: 71, 84] had intention to incorporate PGx in future practice; and 32% [95%CI: 21, 43] were satisfied with current PGx component of curriculum. Age, advanced year of educational program, and more time spent in PGx education were positively associated with PGx knowledge and positive attitudes.


Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population.
Georgina L Fenton et al. J Genet Couns 2017 12 (2) 370-380 (Posted: May 04, 2023 6AM)

This study aimed to develop an online educational program for using PRS for breast and ovarian cancer risk-assessments and evaluate the impact on genetic healthcare providers’ (GHP) attitudes, confidence, knowledge, and preparedness. The educational program comprised of an online module covering theoretical aspects of PRS, and a facilitated virtual workshop with pre-recorded roleplays and case discussions. Data were collected in pre-and post-education surveys.


Public Health and Diagnostic Approaches to Risk Stratification for Melanoma
AC Geller et al, JAMA Dermatology, March 15, 2023 (Posted: Mar 15, 2023 5PM)

Dermatologists and public health experts must remain open to evidence-based new diagnostics that can have a profound effect on practice. However, these important collaborations must be guided by rigorously designed studies and a body of evidence that carefully weighs the benefits and potential harms to patients. In doing so, we must ensure that our education, screening, and incorporation of new diagnostics considers populations and patients who are at greatest risk of fatal melanoma.


Rare Disease Day 2023
US Genomics Education Program, February 28, 2023 (Posted: Feb 28, 2023 6AM)

Today is Rare Disease Day, a global campaign that shines a spotlight on rare disease and on the patients, families and carers worldwide whose lives are affected by rare conditions. This Rare Disease Day, the GEP will officially launch its online course. The course takes learners on a journey that begins with the reality of living with a rare disease, then moves on to the practicalities of identifying and testing for rare conditions, before returning to patient stories and examining the wider implications that results may have for families.


The impact of genetic education on referral of patients to genetic evaluation: Findings from a national survey of nephrologists
HM Rasouly et al, Genetics in Medicine, February 12, 2023 (Posted: Feb 13, 2023 7AM)

Most adult nephrologists reported insufficient genetic education during residency (65%) and fellowship training (52%). Lower rating of genetic education and lower knowledge in recognizing signs of genetic kidney diseases were significantly associated with lower number of patients referred to genetic evaluation (p-value<0.001). Most nephrologists reported that improving their genetic knowledge is important for them (>55%).


Appropriateness of Cardiovascular Disease Prevention Recommendations Obtained From a Popular Online Chat-Based Artificial Intelligence Model.
Ashish Sarraju et al. JAMA 2023 2 (Posted: Feb 04, 2023 7AM)

This exploratory study found that a popular online AI model provided largely appropriate responses to simple CVD prevention questions as evaluated by preventive cardiology clinicians. Findings suggest the potential of interactive AI to assist clinical workflows by augmenting patient education and patient-clinician communication around common CVD prevention queries.


Inequities in COVID-19 vaccine and booster coverage across Massachusetts ZIP codes after the emergence of Omicron: A population-based cross-sectional study.
Jacob Bor et al. PLoS medicine 2023 1 (1) e1004167 (Posted: Feb 02, 2023 7AM)

We analyzed data on 418 ZIP codes. We observed wide geographic variation in primary series vaccination and booster rates, with marked inequities by ZIP code-level education, median household income, essential worker share, and racial/ethnic composition. In age-stratified analyses, primary series vaccine coverage was very high among the elderly. However, we found large inequities in vaccination rates among younger adults and children, and very large inequities in booster rates for all age groups.


Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.
Terrill Bronwyn et al. European journal of human genetics : EJHG 2023 1 1-5 (Posted: Jan 15, 2023 3PM)


Preventing Disease and Protecting Health Among Individuals at Increased Genetic Risk: A Lifespan Perspective and an Emerging Public Health Challenge
MJ Khoury and K Remley, CDC Blog Post, December 20, 2022 Brand (Posted: Dec 20, 2022 9AM)

As we celebrate 25 years of public health genomics at CDC, an emerging public health challenge is to assess when and where human genomics knowledge can be integrated into public health programs to help serve individuals at increased genetic risk across the lifespan. This integration will involve public health data modernization, enhanced policies and guidelines, as well as programs and workforce for genetic services, provider and public education, and community partnerships.


Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review
H Massey et al, J Community Genetics, December 13, 2022 (Posted: Dec 15, 2022 8AM)

Four themes were identified as important when using education to improve treatment adherence: involving family, patient empowerment, practical problem solving and use of information leaflets. Educational interventions improve short term treatment adherence in patients with FH. Successful interventions are those that involve the whole family, set practical problem solving tasks, and that use techniques to increase the patients self-efficacy.


The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review
GAA Garavito et al, EJHG, December 14, 2022 (Posted: Dec 14, 2022 5PM)

The review included thirty articles drawing on sixteen countries. A wide range of factors was cited as critical to the successful implementation of genomics programmes. These included having policy frameworks, regulations, guidelines; clinical decision support tools; access to genetic counselling; and education and training for healthcare staff. The high costs of implementing and integrating genomics into healthcare were also often barriers to stakeholders. National genomics programmes are complex and require the generation of evidence and addressing implementation challenges.


New Report Examines Diversity in the Human Genetics and Genomics Workforce
ASHG, November 10, 2022 (Posted: Nov 11, 2022 8AM)

The American Society of Human Genetics (ASHG) today released the Human Genetics & Genomics Workforce Survey Report, which takes an in-depth look at the field’s workforce demographics, including race, ethnicity, or ancestry; gender identity; sexual orientation; age; disability status; and disadvantaged background. The new report draws on a first-of-its-kind survey of 4,367 respondents outlining their education, employment, training, and career experiences. This is milestone report that illuminates the disparities and inequities within the genomics workforce.


The NHS’s new strategy for genomics: Five key takeaways
UK Genomics Education Program, October 25, 2022 (Posted: Oct 30, 2022 0PM)

We look at the new ‘Accelerating genomic medicine in the NHS’ report, an ambitious first in genomics strategy for the health service, and what it means for healthcare professionals. Here are five things we learned from the report: 1. WES out, WGS in, for children in intensive care. 2. Pharmacogenomics’ growing role. 3. Creating a new digital infrastructure. 4. Representing the patient voice. 5. Genomics upskilling for all.


Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review
S Edwards et al, J Per Medicine, October 2022 (Posted: Oct 13, 2022 6AM)

Four broad themes were identified in the existing literature: (1) The offer—when and in what context to offer screening; (2) Information—the importance of and what to include in education, and pre- and post-test counselling; (3) Who and how—who the genetic counselling is performed by and how; (4) Personalization—how do we find the balance between standardized and individualized approaches? Based on the existing literature, we present a set of recommendations for consideration in implementing population-scale reproductive genetic carrier screening as well as suggested areas for future research.


Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis
A Tluzcek et al, IJNS, September 2022 (Posted: Oct 04, 2022 9AM)

Psychosocial consequences of receiving unexpected neonatal screening results and unsolicited genetic information remain significant risks to expansion of NBS. Findings suggest that risks may be mitigated by improved parent NBS education, effective communication, individualized genetic counseling, and anticipatory developmental guidance. Clinicians need to take extra measures to ensure equitable service delivery to marginalized subpopulations.


The potential of polygenic risk scores for prostate cancer
Genomics education program blog, September 30, 2022 (Posted: Oct 02, 2022 9AM)

In a recent paper, researchers used polygenic risk scores (also known as genetic risk scores) to triage patients with possible prostate cancer symptoms. The study explains that this method, deployable in local GP surgeries, is shown to be more reliable than current first-line tests for prostate cancer, and that it could remove the need for invasive tests for men presenting with prostate cancer symptoms and increase survivability for those testing positive.


2022 Association of Professors of Human and Medical Genetics (APHMG) consensus–based update of the core competencies for undergraduate medical education in genetics and genomics
LJ Massingham et al, Genetics in Medicine August 30, 2022 (Posted: Aug 31, 2022 7AM)

The field of genetics and genomics continues to expand at an unprecedented pace. As scientific knowledge is translated to clinical practice, genomic information is routinely being used in preventive, diagnostic, and therapeutic decision-making across a variety of clinical practice areas. The updated Association of Professors of Human and Medical Genetics core competencies are presented. Current revisions include competencies that are concise, specific, and assessable. In addition, they incorporate recent advances in clinical practice and promote equity and inclusion in clinical care.


Genomics Education Resource Center (GenomeEd)
NHGRI, August 2022 Brand (Posted: Aug 30, 2022 5PM)

The mission of GenomeEd is to provide high-quality educational resources for group instruction or self-directed learning in genetics or genomics by healthcare educators and practitioners. GenomeEd solicits, reviews and organizes resources through an interdisciplinary collaborative exchange. Genomics is becoming increasingly relevant to all health care professionals. This centralized web resource provides vetted educational resources and approaches for educators and learners to achieve genetic or genomic competency.


Medical genetics education for pediatrics residents: A brief report.
Gates Ryan W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 8 (Posted: Aug 29, 2022 1PM)

During September to October 2020, we recruited all the pediatrics residents at our institution via email (N = 102). Residents were invited to complete a Qualtrics electronic survey that addressed self-perceived level of knowledge about core concepts of genetic testing, as well as self-perceived confidence discussing these concepts with families. We found that despite its expanding importance across medicine, genetics education is lacking in pediatrics residency programs and residents would benefit from a curriculum teaching basic concepts of genetic testing.


Bowel cancer: what role do our genes play?
Genetics Education Program, August 19, 2022 (Posted: Aug 21, 2022 3PM)

A person’s risk of developing colorectal cancer is influenced by lifestyle factors, such as a low-fiber diet and lack of regular physical activity; however, as is the case with breast cancer, some inherited genetic variants increase the likelihood of a person developing colorectal cancer. In this article, we look at two genetically inherited syndromes and examine how and why they increase a person’s risk of this particular cancer.


Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A BRCA Pilot Study.
Rose Esther et al. Public health genomics 2022 8 1-14 (Posted: Aug 16, 2022 5PM)

Ashkenazi Jewish (AJ) individuals face a 1 in 40 (2.5%) risk of having a BRCA mutation, which is 10 times the general population risk. JScreen launched the PEACH BRCA Study, a telehealth-based platform for BRCA education and testing, with the goal of creating an effective model for BRCA testing in low-risk AJ individuals who do not meet national testing criteria. This study established interest in broader cancer genetic testing through a telehealth platform and suggested that testing may be successful in the Jewish community at a national level and potentially in other populations, provided that patient education and genetic counseling are adequately incorporated.


Mendelian randomization analysis for attention deficit/hyperactivity disorder: studying a broad range of exposures and outcomes.
Soler Artigas María et al. International journal of epidemiology 2022 6 (Posted: Jun 18, 2022 10AM)

We used genome-wide association study (GWAS) summary statistics for ADHD (n?=?53?293) and 124 traits related to anthropometry, cognitive function and intelligence, early life exposures, education and employment, lifestyle and environment, longevity, neurological, and psychiatric and mental health or personality and psychosocial factors available in the MR-Base database (16?067 =n?=766?345). Our findings strengthen previous evidence of a causal effect of ADHD liability on smoking and major depression, and are consistent with a causal effect on odds of decreased average total household income [odds ratio (OR)?=?0.966, 95% credible interval (CrI)?=?(0.954, 0.979)] and increased lifetime number of sexual partners [OR?=?1.023, 95% CrI?=?(1.013, 1.033)].


Healthcare Professionals' Genomics Education Week
NHGRI, June 6-10, 2022 Brand (Posted: Jun 07, 2022 11AM)

Genomics is becoming an increasingly important part of patient care, but healthcare providers may not be aware of the genomics education resources available. The National Human Genome Research Institute and its partners are organizing a social media campaign from June 6-10, 2022, that focuses on healthcare provider genomics education. This initiative will include panel discussions, webinars, Twitter chats and Q&As.


Aerosol particle emission increases exponentially above moderate exercise intensity resulting in superemission during maximal exercise
B Mutsch et al, PNAS, May 23, 2022 (Posted: May 24, 2022 2PM)

Airborne transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) or other pathogens is probably increased during indoor exercise, but data on the emission of aerosol particles by an exercising individual are lacking. Here, we report that aerosol particle emission increases on average 132-fold from 580 ± 489 particles/min at rest to 76,200 ± 48,000 particles/min during maximal exercise. Aerosol particle emission increases moderately up to an exercise intensity of ˜2 W/kg and exponentially at higher exercise intensities. These data not only explain SARS-CoV-2 transmissions during indoor group exercise but also can be used to design better targeted mitigation measures for physical activity indoors such as physical education in school, dance events during weddings, or high-intensity gym classes such as spinning.


Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study
H Wang et al, Genetics in Medicine, May 17, 2022 (Posted: May 18, 2022 11AM)

We conducted semistructured interviews with 32 pregnant Latinas who predominately lived in rural areas and had low levels of income and education. An emergent coding approach was used to analyze the qualitative data collected. Our entire sample believed that ES should be offered as a part of newborn screening, which could empower pregnant Latinas to better understand their children’s health and take early treatment actions. Although some participants were concerned about potentially bad ES results and had questions about the accuracy of ES results, nearly all interviewees reported that they would be willing to have their newborns undergo ES. The main reasons given were to be informed of diseases that the baby may have, and the perception that ES is a procedure that involves minimal risk.


Using genomics to improve drug prescribing
L Blackburn, PHG Foundation, April 2022 (Posted: May 12, 2022 10AM)

Some pharmacogenomic testing is already available. An NHS England pharmacogenetics test evaluation working group reviews evidence for the potential inclusion of new pharmacogentic tests in the National Genomic Medicine Test Directory. The report identified a number of barriers towards wider adoption of pharmacogenomic tests, including making the most of research evidence, poor availability of tests, health professional education and engagement, and making pharmacogenomic information readily available, for example through electronic systems.


Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
MM Li et al, Genetics in Medicine, May 10, 2022 (Posted: May 11, 2022 8AM)

Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. This clinical practice resource offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical and genetic evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.


Wearable fitness tracker use in federally qualified health center patients: strategies to improve the health of all of us using digital health devices
M Holko et al, NPJ Digital Medicine, April 25, 2022 (Posted: Apr 25, 2022 7AM)

As the use of connected devices rises, an understanding of how digital health technologies can be used for equitable healthcare across diverse communities is needed. We surveyed 1007 adult patients at six Federally Qualified Health Centers that are a part of the All of Us Consortium regarding wearable fitness trackers. Findings indicate the majority interest in having fitness trackers. Barriers included cost and lack of information, revealing that broad digital health device adoption requires education, investment, and high-touch methods.


Inequities in COVID-19 vaccine and booster coverage across Massachusetts ZIP codes: large gaps persist after the 2021/22 Omicron wave
J Bor et al, MEDRXIV, April 12, 2022 (Posted: Apr 12, 2022 0PM)

We analyzed data on 418 ZIP codes. We observed wide geographic variation in primary series vaccination and booster rates, with marked inequities by ZIP-code-level education, median household income, essential worker share, and racial-ethnic composition. In age-stratified analyses, primary series vaccine coverage was very high among the elderly. However, we found large inequities in vaccination rates among younger adults and children, and very large inequities in booster rates for all age groups. In multivariable regression models, each 10 percentage point increase in "percent college educated" was associated with a 5.0 percentage point increase in primary series vaccine coverage and a 4.9 percentage point increase in booster coverage.


Increased family history documentation in internal medicine resident continuity clinic at a community hospital through resident-led structured genetic education program.
Chenbhanich Jirat et al. Journal of community genetics 2022 (Posted: Mar 05, 2022 7AM)

FH documentation in EMR was reviewed and compared to a 4-week baseline (Phase 0). We found that time constraint was the most reported barrier. We reviewed 1197 patient visits; FH was recorded in 34% (67/200), 52% (272/522), and 50% (239/475) during Phase 0, Phase1, and Phase 2, respectively. Genetic education significantly increased the rate of FH documentation in Phase 1 from baseline, which was maintained in Phase 2 despite removal of interventions. The mean age of patients with documented FH was younger than those without documentation (48 years vs 51 years; p?<?0.001). Documented FH of cancers and coronary artery disease lacked important details, such as age at diagnosis, in 62% (86/138) and 51% (41/81) of them, respectively. Out of 511 patients that had documented FH, we identified 66 patients (13%) where positive family history could alter medical management


Mystery variant doubles Covid-19 severity
Genomics Education Program UK, February 2022 (Posted: Feb 21, 2022 7AM)

Researchers have identified a genetic variant that more than doubles the risk of developing severe Covid-19 symptoms in those affected by the virus. The project had sought to “develop a set of genetic markers determining individual susceptibility to SARS-CoV-2 coronavirus infection and the severity of the course of Covid-19”. Researchers discovered the region, located on chromosome 3, by analyzing the genomes of 1,500 people with Covid-19 and it is believed to be the fourth most important factor in determining the severity of illness after the patient’s age, BMI, and gender. It is estimated that 14% of the Polish population and 9% of Europeans carry at least one copy of the variant.


Diagnosing mitochondrial conditions: a WGS breakthrough
Genomics Education Programme, December 5, 2021 (Posted: Dec 05, 2021 3PM)

Mitochondrial conditions can be difficult to diagnose. New research into the genetic cause of mitochondrial conditions has shown that whole genome sequencing could help speed up the diagnosis of these conditions for patients. The findings also suggest that other genetic conditions not related to mitochondria could be diagnosed through this approach.


Underrepresented patient views and perceptions of personalized medication treatment through pharmacogenomics
L Solzbery et al, NPJ Genomic Medicine, November 2021 (Posted: Nov 04, 2021 11AM)

We compared views and experiences from self-reported White and Black patients, including education level as a covariate across analyses. Black patients were less confident about whether their providers made personalized treatment decisions, and overwhelmingly wanted a greater role for their genetic information in clinical care. Both groups similarly reported that providers asked their opinions regarding medication changes, but White patients were more likely (59% vs. 49%, P?=?0.005) to discuss the impact of personal/genetic makeup on medication response with providers, and Black patients reported initiating such discussions much less frequently (4% vs. 15%, P?=?0.037).


Genetic Counseling and Testing in African American Patients With Breast Cancer: A Nationwide Survey of US Breast Oncologists.
Ademuyiwa Foluso O et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 10 JCO2101426 (Posted: Oct 21, 2021 8AM)

We demonstrated that racial differences exist in oncology physicians' perceived barriers to GCT for patients with breast cancer. This nationwide survey will serve as a basis for understanding physicians' determinants of GCT for African American women and highlights the necessity of education and interventions to address bias among physicians. Awareness of such physician biases can enable further work to address inequities, ultimately leading to improved GCT equity for African American women with breast cancer.


Mental health: build predictive models to steer policy Combine economic, social and medical data to forecast need and design services to address the growing crisis.
JA Occhipinti et al, Nature, September 26, 2021 (Posted: Sep 27, 2021 7AM)

We argue that a systems-modelling approach should be used to tackle the mental-health challenge. Drawing together qualitative and quantitative evidence and data, models should capture changes triggered by the pandemic — such as education loss, job loss, domestic violence, social isolation, fear and uncertainty. Models should forecast demand for community mental-health services and acute care, including emergency-department presentations and psychiatric hospitalizations, as well as outcomes such as suicidal behavior.


Impact of paternal education on epigenetic ageing in adolescence and mid-adulthood: a multi-cohort study in the USA and Mexico.
Joyce Brian T et al. International journal of epidemiology 2021 9 (Posted: Sep 19, 2021 10AM)

Both parental and neighbourhood socio-economic status (SES) are linked to poorer health independently of personal SES measures, but the biological mechanisms are unclear. Our objective was to examine these influences via epigenetic age acceleration (EAA)—the discrepancy between chronological and epigenetic ages.We examined three USA-based [Coronary Artery Risk Disease in Adults (CARDIA) study, Fragile Families and Child Wellbeing Study (FFCWS) and Programming Research in Obesity, Growth, Environment and Social Stressors (PROGRESS)] and one Mexico-based (Project Viva) cohort. Our findings suggest that EAA captures epigenetic impacts of paternal education independently of personal SES later in life.


Evaluating Primary Care Providers' Readiness for Delivering Genetic and Genomic Services to Underserved Populations.
Sharma Yashoda et al. Public health genomics 2021 1-10 (Posted: Sep 17, 2021 6AM)

We evaluated the readiness of primary care providers at a Federally Qualified Health Center, the Community Health Center, Inc. (CHCI) for delivering genetic and genomic testing to underserved populations. Online survey questions focused on providers' education and training in basic and clinical genetics, familiarity with current genetic tests, and needs for incorporating genetics and genomics into their current practice.Fifty of 77 (65%) primary care providers responded to the survey. Less than half received any training in basic or clinical genetics (40%), were familiar with specific genetic tests (36%), or felt confident with collecting family health history (44%), and 70% believed patients would benefit from genetic testing.Despite knowledge gaps, respondents recognized the value and need to bring these services to their patients.


Improving Access to Genetic Services for Underserved Populations
Megan Lyon, National Coordinating Center for Reginal Genetics Networks, slide presentation, CDC Webinar, August 20201 (Posted: Sep 10, 2021 9AM)

The Maternal and Child Health Bureau of the Health Resources and Services Administration (MCHB/HRSA) has established seven Regional Genetics Networks (RGNs), a National Coordinating Center (NCC), and the National Genetics Education and Family Support Center (NGEFSC) as part of on-going efforts to improve the health of medically underserved populations by promoting the translation of genetic medicine into public health and health care services.


Scoping review: the empowerment of Alzheimer’s Disease caregivers with mHealth applications
E Kim et al, NPJ Digital Medicine, September 7, 2021 (Posted: Sep 07, 2021 6AM)

We searched published literature in five electronic databases between January 2014 and January 2021. Twelve articles were included in the final review. Six themes emerged based on the functionalities provided by the reviewed applications for caregivers. They are tracking, task management, monitoring, caregiver mental support, education, and caregiver communication platform. The review revealed that mHealth applications for AD patients’ caregivers are inadequate.


Finding a genomic cause: The clinician's role
Genomics Education Program, UK, 2021 (Posted: Sep 06, 2021 6AM)

It’s vital that you provide as much detailed information about the phenotype as possible – even if you’re not sure whether it’s relevant. Even a small omission of relevant information could alter the filtering process and mean the variant of interest is filtered out during one of the filtering stages outlined above. In addition, the handful of variants left for the clinical scientists to analyze at the end of the machine filtering process may be interpreted differently in light of the phenotypic information provided, so it’s vital that it is detailed and precise.


FH Awareness Day Toolkit 2021
The FH Foundation September 2021 (Posted: Sep 05, 2021 9AM)

FH Awareness Day was established in 2012 by the FH Foundation to raise awareness of familial hypercholesterolemia worldwide. This annual event is held on the September 24th, during National Cholesterol Education Month. Together, we raise our voices to help everyone #KnowFH.


PCR: more than just a Covid test
Genomics Education Program, August 20, 2021 (Posted: Aug 22, 2021 7AM)

For decades, PCR has been a staple technique of the lab. Since the Covid-19 pandemic began, thanks to its role in rapid-turnaround diagnostic tests, it has become a part of common vocabulary. But how does PCR work? And where else in healthcare is it used? PCR stands for polymerase chain reaction. It is a laboratory technique that allows millions of copies of a small amount of DNA to be made quickly – a process known as DNA amplification. Useful in itself, it is also the foundation of many other techniques.


Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives
KRM van der Meij et al, EJHG, August 13, 2021 (Posted: Aug 13, 2021 8AM)

A questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice.


The Complementarity of Public Health and Medicine — Achieving “the Highest Attainable Standard of Health”
DJ Hunter, NEJM, August 5, 2021 (Posted: Aug 04, 2021 5PM)

Preventive medicine can be practiced with individual patients in a consulting room or through organized activities such as vaccine outreach, community blood-pressure screening, or health education. Future “big data” analyses may both provide insights into population health as well as permitting more personalized medical care.


A call for training programmes in cardiovascular genomics
MS Safavrova et al, Nat Rev Cardio, July 2021 (Posted: Jul 25, 2021 6AM)

Genomic data are increasingly being integrated into health care. We propose an outline for structured training in cardiovascular genomics, recognizing the growing need for a cardiovascular genomics subspecialty and cardiovascular subspecialists who incorporate genomics advances to optimize the management of heritable cardiovascular diseases.


Innovating Sickle Cell Disease education models
NHLBI, July 2021 Brand (Posted: Jul 21, 2021 7AM)

As he played the game, he won a badge each time he answered a question right. But happily, there were no wrong answers. That’s because the game’s goal is to explain – in simple terms – what many don’t know: that SCD affects more than 100,000 people in the U.S. and millions of others worldwide. That it is more common among Black children and adults.


Summer Camp, A Place Where A Kid Can Just Be A Kid… Even If He Or She Has Sickle Cell Disease
CDC, June 2021 Brand (Posted: Jun 17, 2021 9AM)

Summer camp can positively affect any child’s mental and physical health, but perhaps even more so if the child lives with a chronic medical condition such as sickle cell disease (SCD). For these children, the summer camp experience can provide support and education and reduce the social isolation so often experienced by those with a challenging health condition.


Healthcare Provider Genomics Education Resources
NHGRI, June 2021 Brand (Posted: Jun 08, 2021 7AM)

Healthcare provider (HCPs) will increasingly use knowledge about genomics to meet the needs of their patients. This page provides resources targeted to HCPs and their educators. NHGRI and its partners are organizing a social media campaign from June 7-11, 2021.


2021 Healthcare Provider Genomics Education Week
NHGRI, June, 2021 Brand (Posted: Jun 02, 2021 9AM)

Genomics is becoming an increasingly important part of patient care, but healthcare providers may not be aware of the genomics education resources available. The National Human Genome Research Institute and its partners are organizing a social media campaign from June 7-11, 2021.


Modernizing family health history: achievable strategies to reduce implementation gaps.
Wildin Robert S et al. Journal of community genetics 2021 (Posted: May 28, 2021 4PM)

The NHGRI Family Health History Group, an open-membership, US-based group with international members, believes that integrating FHH in healthcare and research is more important than ever, and that achievable implementation advances, including education, are urgently needed to boost the pace of translational utility in genomic medicine. An inventory of implementation gaps and proposed achievable strategies to address them, representing a consensus developed in meetings from 2019-2020, is presented here. The proposed measures are diverse, interdisciplinary, and are guided by experience and ongoing implementation and research efforts.


Identifying risk factors for COVID-19 severity and mortality in the UK Biobank
I Madalkatel et al, MEDRXIV, May 11, 2021 (Posted: May 12, 2021 8AM)

We use information on up to 421,111 UK Biobank participants to identify possible predictors for long-term susceptibility to severe COVID-19 infection (N =1,088) and mortality (N =376). We include 36,168 predictors in our analyses and use a gradient boosting decision tree (GBDT) algorithm and feature attribution based on Shapley values, together with traditional epidemiological approaches to identify possible risk factors. Our analyses show associations between socio-demographic factors (e.g. age, sex, ethnicity, education, material deprivation, accommodation type) and lifestyle indicators (e.g. smoking, physical activity, walking pace, tea intake, and dietary changes) with risk of developing severe COVID-19 symptoms. Blood (cystatin C, C-reactive protein, gamma glutamyl transferase and alkaline phosphatase) and urine (microalbuminuria) biomarkers measured more than 10 years earlier predicted severe COVID-19.


Effectiveness of patient-targeted interventions to inform decision making and improve uptake of colorectal cancer genetic evaluation for at-risk individuals: A systematic review.
Li Huanhuan et al. International journal of nursing studies 2021 118103928 (Posted: Apr 16, 2021 10AM)

Based on this review, the conclusion cannot be made that interventions for risk assessment, education, and decision aids have positive effects on the uptake of colorectal cancer genetic evaluation for at-risk individuals and their informed decision making. Future studies with rigorous designs are recommended


Patients' and Oncologists' Knowledge and Expectations Regarding Tumour Multigene Next Generation Sequencing: A Narrative Review.
Shirdarreh Melika et al. The oncologist 2021 (Posted: Apr 09, 2021 10AM)

Patients generally had positive attitudes towards tumour NGS despite relatively little knowledge of test-related genetics concepts, but their expectations often exceeded the reality of low clinical utility. Patients with higher education and greater genetics knowledge had more realistic expectations and a more altruistic view of the role of NGS. Attitudes towards disclosure of secondary findings were highly variable. Oncologists had poor to moderate genomic literacy.


Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Nisselle Amy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 4 (Posted: Apr 08, 2021 7AM)

Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions.


Digital health interventions in palliative care: a systematic meta-review
AM Finucane, et al, NPJ Digital Medicine, April 2021 (Posted: Apr 07, 2021 6AM)

This meta-review revealed 21 relevant systematic reviews, encompassing 332 publications. Interventions delivered via videoconferencing (17%), electronic healthcare records (16%) and phone (13%) were most frequently described in studies within reviews. DHIs were typically used in palliative care for education (20%), symptom management (15%), decision-making (13%), information provision or management (13%) and communication (9%).


AI-facilitated health care requires education of clinicians.
Keane Pearse A et al. Lancet (London, England) 2021 4 (10281) 1254 (Posted: Apr 06, 2021 8AM)

Although AI-enabled health care has huge potential, we are still only in its early stages. As the field matures, a key concern is how should clinicians be educated in these advances and what roles they will assume in developing, validating, and implementing these technologies.


A framework for microbiome science in public health
JE Wilkinson et al, Nature Medicine, April 5, 2021 (Posted: Apr 05, 2021 1PM)

Human microbiome science has advanced rapidly and reached a scale at which basic biology, clinical translation and population health are increasingly integrated. It is thus now possible for public health researchers, practitioners and policymakers to take specific action leveraging current and future microbiome-based opportunities and best practices. Here we provide an outline of considerations for research, education, and scientific communication.


Utility of a virtual counselor (VICKY) to collect family health histories among vulnerable patient populations: A randomized controlled trial.
Wang Catharine et al. Patient education and counseling 2021 (Posted: Mar 26, 2021 9AM)

A virtual counselor overcomes many of the literacy-related barriers to using traditional digital tools and highlights an approach that may be important to consider when collecting health histories from vulnerable populations. The usability of digital health history tools will have important implications for the quality of the data collected and its downstream clinical utility.


Comparison of an Artificial Intelligence-Enabled Patient Decision Aid vs Educational Material on Decision Quality, Shared Decision-Making, Patient Experience, and Functional Outcomes in Adults With Knee Osteoarthritis: A Randomized Clinical Trial.
Jayakumar Prakash et al. JAMA network open 2021 Feb 4(2) e2037107 (Posted: Feb 23, 2021 9AM)

This randomized clinical trial at a single US academic orthopedic practice included 129 new adult patients presenting for OA-related knee pain from March 2019 to January 2020. Data were analyzed from April to May 2020.Patients were randomized into a group that received a decision aid including patient education, preference assessment, and personalized outcome estimations (intervention group) or a group receiving educational material only (control group) alongside usual care.


Call for improvement in medical school training in genetics: results of a national survey.
Haspel Richard L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb (Posted: Feb 16, 2021 7AM)

401 PGY1 pathology residents took the 2019 RISE-FIRST (65% of those in the US). There was significantly lower perceived understanding of genetics compared with nongenetics topics. Respondents also reported less time spent learning genetics and lower quality training compared with control areas. 53% indicated an interaction during school with a medical geneticist.


Trainee perspectives of COVID-19 impact on medical genetics education.
Pritchard Amanda Barone et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb (Posted: Feb 16, 2021 7AM)


The impact of needs-based education on the change of knowledge and attitudes towards medical genetics in medical students
P Cargonja et al, EJHG, January 4, 2021 (Posted: Jan 04, 2021 2PM)


Clinical Implications of Removing Race From Estimates of Kidney Function.
Diao James A et al. JAMA 2020 Dec (Posted: Dec 04, 2020 11AM)

In this population-based study, we found that removal of race adjustment may increase chronic kidney disease diagnoses among Black adults and enhance access to specialist care, medical nutrition therapy, kidney disease education, and kidney transplantation, while potentially excluding kidney donors and prompting drug contraindications or dose reductions for individuals reclassified to advanced stages of CKD.


Regional Adoption of Commercial Gene Expression Testing for Prostate Cancer.
Leapman Michael S et al. JAMA oncology 2020 Nov (Posted: Nov 28, 2020 0PM)

This cohort study of commercially insured patients with prostate cancer found that although adoption of genomic testing was highly variable, there were distinct regional trajectories of adoption. Rapid regional adoption of genomic testing was associated with higher contextual measures of income, education, and prostate cancer services.


Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives
BM Kious et al, Genetics in Medicine, October 6, 2020 (Posted: Oct 06, 2020 8AM)

Eight survivors and 13 family members participated. Both groups postulated benefits of suicide genetic testing, including prevention and reduced stigma. Their concerns ranged from increased stigma to adverse psychological effects. They suggested that suicide testing should be accompanied by extensive education and counseling.


The Pandemic of Health Care Inequity
LR Thronson et al, JAMA Network Open, October 2, 2020 (Posted: Oct 05, 2020 1PM)

Access to digital services is important not just for health care but also for education, housing, other social services, job applications, and food delivery in communities with COVID-19 outbreaks. Cross-sector collaboration among health care systems, local governments, telecommunication companies, schools, community-based organizations, and philanthropic organizations is needed to address inequitable access and provide assistance for communities with the most risk.


The NHGRI Short Course in Genomics: energizing genetics and genomics education in classrooms through direct engagement between educators and scientists
SM Robbins et al, Genetics in Medicine, September 15, 2020 (Posted: Sep 15, 2020 8AM)

We developed a Short Course in Genomics to inspire new teaching materials through collaborative course development sessions and lectures, to expand access to cutting edge scientific information, and to provide a framework to consider when crafting new coursework related to scientific education.


Blood DNA methylation signatures to detect dementia prior to overt clinical symptoms
PD Fransquet et al, Blood Based Biomarkers, July 2020 (Posted: Jul 22, 2020 8AM)

DNAm was measured in 73 individuals prior to dementia diagnosis and 87 cognitively healthy controls matched for age, sex, smoking, education, and baseline cognition. Discernible blood DNAm signatures are in dementia cases before the appearance of overt clinical symptoms. Further investigation is needed to determine clinical utility.


Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project
MD Maxwell et al, Genetics in Medicine, July 9, 3030 (Posted: Jul 11, 2020 7AM)

With few trained genetics professionals, the Military Health System is ill-equipped to manage the rapid expansion of genomic medicine. The MilSeq Project introduces an alternative service delivery model (ASDM) in which primary health-care providers (HCPs) provide post-test counseling (PTC) to healthy Airmen who have undergone exome sequencing.


New genomic data studies launch to combat Covid-19
Genetics Education Program, July 9, 2020 (Posted: Jul 10, 2020 6AM)


Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
RM Cohen et al, Genetics in Medicine, July 6, 2020 (Posted: Jul 06, 2020 9AM)

During 2012–2018, 774 clinicians from multiple disciplines and career stages attended 35 programs; 334 (43%) attended the 5-day extended format. Evaluations showed significant improvement of genomic literacy (mean 15.05/100 points, p?<?0.001). Residents initially had higher scores than specialists; both significantly improved, with specialists “catching up”.


Telehealth: What You Need to Know About a Virtual Doctor Visit
NIH, June 2020 (Posted: Jun 30, 2020 8AM)

Telehealth is a collection of means or methods for enhancing health care, public health and health education delivery and support using telecommunications technologies. The most conventional type is live video conferencing where both the doctor and patient use a computer or mobile device with video and audio to have a conversation and medical exam.


Training the next generation of genomic medicine providers: trends in medical education and national assessment
S Dasgupta et al, Genetics in Medicine, June 18, 2020 (Posted: Jun 19, 2020 6AM)

The current distribution of genetics in USMLE licensing examinations reflects traditional curricular approaches with genetics as a basic science course in the early years of medical school and de-emphasizes clinical relevance of the field.


How the UK is cracking the coronavirus code
Genomics Education Program, April 17,2020 (Posted: Apr 20, 2020 8AM)


Education on cancer risk assessment and genetic counseling to address cancer health disparities among racial/ethnic groups and rural populations: Implementing culturally tailored outreach through community health educators.
San Miguel-Majors Sandra L et al. Journal of genetic counseling 2020 Mar (Posted: Mar 25, 2020 9AM)


more


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch 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.
TOP