239 hot topic(s) found with the query "Public health genomics"
Emerging Opportunities for Genomics to Improve Population Health: Lessons learned from the National Academies Roundtable on Genomics and Precision Health
CDC Webinar, May 22, 2024
(Posted: Mar 21, 2024 1PM)
From the website: " For nearly two decades, the National Academies of Sciences, Engineering, and Medicine’s Roundtable on Genomics and Precision Health has brought together diverse voices to share in dialogue about emerging topics in genomics and precision health. Through its public workshops and proceedings of those workshops, the roundtable seeks to encourage innovation and actions that foster the wide adoption of and equitable access to the benefits of genomics and precision health. The webinar will shed light on the emerging opportunities and challenges for genomics to improve population health. The webinar participants will also discuss the role of public health at state and federal levels in fulfilling the promise of genomics and precision health for all. Specific topics relevant to public health practice will be explored."
We need to stand together on the shoulders of giants: consolidating effective approaches for translating genomics into practice with implementation science.
Stephanie Best et al. Public Health Genomics 2023 12
(Posted: Jan 22, 2024 8AM)
From the article: "Adopting a genomics learning implementation system approach would provide opportunities to bring together clinical and implementation data from observational studies and clinical trials, providing real-world evidence. These findings could be housed in the Digital Implementation Toolshed (DIT), an online bi-directional platform for resources generated from implementation science activity in genomics. The highly curated DIT (Fig. 1) would augment the Centers for Disease Control and Prevention Genomics and Precision Health Weekly Update. " "
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. "
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 [ "
Public Health Genomics: Time to Sharpen the Focus.
Colleen M McBride et al. Public Health Genomics 2023 9
(Posted: Oct 25, 2023 9AM)
From the paper: "We begin this next step in our evolution by deliberatively aligning our scope in accordance with a planning model put forward by the Association of State and Territorial Health Officials (ASTHO). ASTHO is an organization founded over 80 years ago to provide leadership nation-wide in supporting, equipping, and advocating for improvements in the collection and use of public health data, expanded access to care and treatment, and created new preparedness frameworks to respond to crises. ASTHO’s 10 essential public health services have been adapted for the field of public health genomics "
Future Forecasting for Research and Practice in Genetic Literacy
KA Kapingst, Public Health Genomics, September 13, 2023
(Posted: Sep 14, 2023 9AM)
From the abstract: "Available evidence highlights important gaps in genetic literacy throughout the population, limiting the potential use of these technologies to improve the health of individuals, their families, and their communities. Effective communication approaches are needed to meet the needs of individuals with varying levels of genetic literacy and from different communities. To achieve this goal, this piece highlights essential areas of research and practice in genetic literacy that are needed to inform public health translation of genomic discoveries. "
Refining a multifaceted model of perceived utility of genomic sequencing results.
Devan M Duenas et al. Public Health Genomics 2023 8
(Posted: Aug 25, 2023 9AM)
From the abstract: "Research on the perceived utility of genomic sequencing has focused primarily on pediatric populations and on individuals and families with rare genetic diseases. Here, we evaluate how well a multifaceted perceived utility model developed with these populations applies to a diverse, adult population aged 18-49 at risk for hereditary cancer and propose new considerations for the model. Participants’ discussions of utility often involved multiple domains and revealed the variety of ways in which receiving sequencing results can impact one’s life. Results demonstrated that an individual’s perception of utility can change over the life course when sequenced at a relatively young age and may be influenced by the resources available to them to act on the results."
Factors influencing genetic screening enrollment among a diverse, community-ascertained cohort: Factors influencing genetic screening enrollment
ND Rao et al, Public Health Genomics, August 21, 2023
(Posted: Aug 21, 2023 2PM)
Overall, learning about disease risk and identifying risk early for prevention purposes were important factors in decision-making to receive screening and regrets about screening and screening being against one’s moral code were not viewed as important. Although racial identity was challenging to assign in all cases, compared to other enrollees, African American and Asian enrollees considered test accuracy and knowing more about the test to be of greater importance. Three themes emerged related to nonparticipation: benefits do not outweigh risks, don’t want to know, and challenges with study logistics.
Genetic testing and other healthcare use by Black and white individuals in a genomic sequencing study.
Katherine W Saylor et al. Public Health Genomics 2023 8
(Posted: Aug 14, 2023 1PM)
We assessed factors associated with the odds of having ever received genetic testing prior to enrollment in a genomic sequencing study among 674 self-identified white and 407 self-identified African, African American, or Afro-Caribbean (“Black”) individuals. Controlling for individual determinants of healthcare use (demographics, personality traits, knowledge and attitudes, and health status), identifying as Black was associated with lower odds of prior genetic testing (OR = 0.43, 95% CI [0.27-0.68], p<0.001). In contrast, self-identified race was not associated with the use of non-genetic clinical screening tests.
Your Family Connects: A Theory-Based Intervention to Encourage Communication About Possible Inherited Cancer Risk among Ovarian Cancer Survivors and Close Relatives
J Zhao et al, Public Health Genomics, July 25, 2023
(Posted: Jul 26, 2023 9AM)
Encouraging family communication about possible genetic risk has become among the most important avenues for achieving the full potential of genomic discovery for primary and secondary prevention. Yet, effective family-wide risk communication (i.e., conveying genetic risk status and its meaning for other family members) remains a critical gap in the field. We aim to describe the iterative process of developing a scalable population-based communication outreach intervention, Your Family Connects.
Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation
LV Milko et al, IJNS June 2023
(Posted: Jun 28, 2023 11AM)
Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there are many challenges to overcome before this technology can routinely be applied in the healthy population. The age-based genomic screening (ABGS) approach is a novel alternative to genome-scale sequencing at birth that aims to provide highly actionable genetic information to parents over the course of their child’s routine health care. ABGS utilizes an established metric to identify conditions with high clinical actionability and incorporates information about the age of onset and age of intervention to determine the optimal time to screen for any given condition.
Data for Action in Public Health Genomics: Ensuring Equitable Implementation of Genomic Applications Across the Lifespan
MJ Khoury et al CDC Blog Post, June 23, 2023
(Posted: Jun 24, 2023 10AM)
Our office is currently identifying gaps in the effective implementation of tier 1 genomic applications. These include the limitations of current public health and healthcare data sources for tracking trends in genetic testing and identifying health disparities and their underlying contributors. These data are needed more than ever to drive practice, programs, and policy, to fulfill the promise of genomics to improve population health and to reduce health inequities.
A genetic counselor's reflections on lessons learned, challenges, and successes experienced during a one-year pilot integration in a primary care clinic.
Prescilla B Carrion et al. Public Health Genomics 2023 6 1
(Posted: Jun 19, 2023 1PM)
Reflections on the lessons learned, including challenges and successes during this one-year pilot integration are shared by the genetic counselor in the context of exploring the potential value a genetic counselor can provide while embedded in a primary care clinic. The relationship between clinical genetic counseling practice and a culturally safe and trauma informed approach in primary care is explored, and additional steps are described that can be taken to facilitate more equitable and inclusive access to genetic counseling services for underserved and vulnerable patient populations.
Cost-Effectiveness Analysis in Public Health Genomics and Precision Health: Recent Findings, Methodologic Issues, and the Path Forward
CDC Public Health Genomics Webinar, October 26, 2023
(Posted: Jun 09, 2023 8AM)
Dr David Veenstra from the University of Washington in Seattle will review the field as a whole and his research projects including evaluation of the cost-effectiveness of population-level genomic screening, pharmacogenomics in diverse populations, decision modeling techniques to assess evidence thresholds, and stakeholder preferences for precision medicine. He will address recent findings, methodologic issues and the path forward.
Screening for 3 Genetic Conditions Is Cost-effective in Younger People.
Emily Harris et al. JAMA 2023 5
(Posted: May 24, 2023 9AM)
One-time screening of young adults for 3 conditions—Lynch syndrome, hereditary breast and ovarian syndrome, and familial hypercholesterolemia—would likely be cost-effective compared with only testing patients deemed “high-risk” because of their family histories, according to an analysis of hypothetical cohorts of 100?000 people aged 20 to 60 years. Based on the accepted guideline that interventions priced at no more than $100?000 per quality-adjusted life-year are cost-effective, screening a 30- or 40-year-old person would be worthwhile if the test cost less than $413 or $290, respectively. Assuming a genetic test cost of $250, screening 50-year-old patients would not be cost-effective.
Who is Involved in Public Health Genetics and Genomics?
PHGW, May 2023
(Posted: May 17, 2023 11AM)
The public health genetics and genomics system make up many organizations and individuals that work together to deliver genetic services, including genetic testing and counseling, and ensure access to genetic services for a population. Below, you can find more information about the various roles of individuals within the public health system, as well as organizations that contribute to the system.
Future Forecasting for Research and Practice in the Public Health Translation of Genomic Discovery
Public Health Genomics, Call for Papers, May 2023
(Posted: May 02, 2023 10AM)
A call for a special collection highlighting the current breadth of research and practice opportunities for genomics to have a positive public health benefit. Submissions include but are not limited to the following questions: What innovations — in communications, community engagement, implementation, health care delivery, and public policy — are needed; How can we develop a sustainable workforce; How can we foster the transdisciplinary collaborations needed for translational research aiming to integrate genomics into existing public health programs/
Public Health Genetics and Genomics Week Toolkit
PHGW, May 16-20, 2023
(Posted: Apr 21, 2023 9AM)
The National Coordinating Center for the Regional Genetics Network (NCC) is proud to host Public Health Genetics and Genomics Week (PHGW)! The goal of PHGW is to increase awareness and celebrate the efforts of public health genetics and genomics. Help celebrate Public Health Genetics and Genomics Week by using our toolkit below! Find ways to promote the week by downloading a Zoom background, social media graphics, email signature banners, and much more.
Human-centered design study to inform traceback cascade genetic testing programs at three integrated health systems
KM Romagnoli et al, Public Health Genomics, March 2023
(Posted: Mar 04, 2023 8AM)
We interviewed 70 participants and identified five preferred experiences for a traceback program. Participants strongly prefer discussing genetic testing with their doctor but are comfortable discussing with other clinicians. The most highly preferred experience for both probands and relatives was to discuss with a knowledgeable clinician who can answer questions, followed by directed (sent directly to specific people) or passive (shared in a public area) communication. Repeated contact was acceptable for reminders.
Twenty-Five Years of Public Health Genomics: A Mini Symposium,
CDC, February 9, 2023 2-hour video presentations
(Posted: Feb 25, 2023 6AM)
In this mini symposium, the speakers reflect on 25 years of progress in public health genomics around the world, review past and current achievements in the field, discuss the role of public health programs in translating advances in genomics into population health benefits, discuss workforce development and training needs, and consider ethical, legal and social issues in ensuring equitable applications of genomics into population- based research and health practice.
Population Screening for Rare Pathogenic Variants as the Low Hanging Fruit for Public Health Genomics Across the Lifespan
MJ Khoury, CDC Blog Post, February 13, 2023
(Posted: Feb 13, 2023 11AM)
Using the rationale of newborn screening for rare disorders for which a specific combination of features pertain (serious outcome, effective prevention of diseases and disabilities, asymptomatic latent period, and an affordable assay), DNA-based population screening for rare pathogenic variants could be an early low hanging fruit for the emerging field of public health genomics.
We Screen Newborns Don’t We? Progress in DNA-based Population Screening
CDC Public Health Genomics Webinar, May 18, 2023,
(Posted: Jan 28, 2023 11AM)
As part of 2023 Public Health Genetics and Genomics week, we review in this webinar the concept of population genomic screening for rare diseases beyond the newborn period, share research progress made in the last decade, and discuss the path forward to prepare the medical and public health communities for population-based genomic screening.
Public Health Genetics and Genomics Week 2023
PHGW, January 2023
(Posted: Jan 26, 2023 2PM)
Join us from May 15-19, 2023 to celebrate the fourth annual Public Health Genetics and Genomics Week! Public health genetics and genomics apply genetic and genomic information to improve public health and prevent disease. Public health genetics and genomics includes healthcare providers, patients, families, federal agencies, public health professionals, and non-profits. During the fourth annual Public Health Genetics Week, we will be celebrating the efforts of those individuals who participate in the public health genetics system and seek to raise awareness about the field.
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
(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.
Public Health Genomics at the Centers for Disease Control and Prevention: Happy 25th Anniversary!
MJ Khoury, CDC Blog Post. December 12, 2022
(Posted: Dec 13, 2022 8AM)
In 1997, in response to the Human Genome Project, the CDC formed the Office of Genetics and Disease Prevention, now called the Office of Genomics and Precision Public Health (OGPPH). This was the beginning of the public health genomics movement in the United States and around the world. Our office continues to serve CDC programs, other federal agencies, state health departments, and other external partners by identifying, evaluating, and implementing evidence-based genomics applications to prevent and control the country’s leading chronic, infectious, environmental, and occupational diseases.
Twenty-Five Years of Public Health Genomics: A Mini Symposium
CDC, February 9, 2023
(Posted: Dec 13, 2022 8AM)
In this mini symposium, we reflect on 25 years of progress in public health genomics around the world, review past and current achievements in the field, discuss the role of public health programs in translating advances in genomics into population health benefits, discuss workforce development and training needs, and consider ethical, legal and social issues in ensuring equitable applications of genomics into population- based research and health practice.
The Development and Influence of Public Health Genomics
P Begley (ed), University of Liverpool, UK, 2022
(Posted: Nov 30, 2022 6AM)
In April 2005 eighteen delegates from Britain, the US, Canada, France, and Germany, including geneticists, bioethicists, and public health experts, met at the Rockefeller Centre in Bellagio, Italy. Their aim was to share interests, knowledge and experience and agree a collective definition for the developing field of Public Health Genomics. It was unanimously decided to aim for ‘The responsible and effective translation of genome-based knowledge and technologies for the benefit of population health’.
Integrating genomics into the care of people with palliative needs: A global scoping review of policy recommendations.
White Stephanie et al. Public health genomics 2022 11
(Posted: Nov 20, 2022 7AM)
To identify policy recommendations related to: (1) integrating genomics into the care of patients with palliative care needs and their families, and (2) care of the family unit, we performed a scoping review of palliative care and genomic policies. Two of 78 policies recommended integrating genomics into palliative care. Six palliative care policies mentioned genomics in background information but were without relevant recommendations. No genomics policies mentioned palliative care in the background information.
The Joint Public Health Impact of Family History of Diabetes and Cardiovascular Disease among Adults in the United States: A Population-Based Study
D Rasooly et al, Public Health Genomics, October 6, 2022
(Posted: Oct 06, 2022 1PM)
Participants with joint family history exhibit 6.5 greater odds for having both diseases and are diagnosed with diabetes 6.6 years earlier than participants without family history. Healthy participants without prevalent CVD or diabetes but with joint family history exhibit a greater prevalence of diabetes risk factors compared to no family history counterparts. Joint family history is associated with an increase in all-cause mortality. Over 44% of the US adult population has a family history of CVD and/or diabetes. This wide presence of high-risk family history suggests that clinical and public health efforts should collect and act on joint family history of CVD and diabetes to improve population efforts in the prevention and early detection of these common chronic diseases.
Knowledge and Attitudes about Privacy and Secondary Data Use among African-Americans Using Direct-to-Consumer Genetic Testing.
Ziegler Emily et al. Public health genomics 2022 9 1-10
(Posted: Sep 29, 2022 8AM)
This study found that African-American consumers of DTC GT had a positive outlook about genetic testing and were open to research and some nonresearch uses, provided that they were able to give informed consent. Participants in this study had little knowledge of company practices regarding secondary uses. Compared to an earlier cohort of European American participants, African-American participants expressed more concerns about medical and law enforcement communities’ use of data and more reference to community engagement.
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing
GT Timmins et al, Public Health Genomics, September 2022
(Posted: Sep 26, 2022 7AM)
We conducted a semi-structured interview study with English and Spanish speaking mothers who had given birth within the USA in the past 5 years. The interviews explored opinions of expanding NBS, ethical and privacy concerns, and educational and social needs. All participants were interested in some degree of NBS expansion. However, there were differing opinions about the characteristics of conditions that should be included with less consensus for conditions with low penetrance, those without approved treatment, or onset outside of early childhood.
Communicating Precision Medicine Research: Multidisciplinary Teams and Diverse Communities.
Beans Julie A et al. Public health genomics 2022 8 1-9
(Posted: Sep 01, 2022 3PM)
A shared definition of precision medicine research as well as six case examples of precision medicine research involving genetic risk, pharmacogenetics, epigenetics, the microbiome, mobile health, and electronic health records were developed. Discussion/Conclusion: The precision medicine research definition and case examples can be used as planning tools to establish a shared understanding of the scope of precision medicine research across multidisciplinary teams and with the diverse communities.
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.
Using a Participatory Approach to Develop Research Priorities for Future Leaders in Cancer-Related Precision Public Health
MC Roberts et al, Frontiers in Genetics, May 2022
(Posted: May 26, 2022 7AM)
We held an interactive workshop during a virtual conference bringing together early-career researchers across public health disciplines to identify research priorities in precision public health. The workshop participants discussed and voted to identify three priority areas for future research and capacity building including 1) enhancing equity and access to precision public health research and resources, 2) improving tools and metrics for evaluation and 3) applying principles of implementation science to support sustainable practices.
Pursuing Public Health Benefit Within National Genomic Initiatives: Learning From Different Policies
SM Onstwedder et al, Frontiers in Genetics, May 24, 2022
(Posted: May 26, 2022 6AM)
Genomics initiatives hold the potential to deliver health promises of population-based genomics. Yet, universal tools to measure public health benefit and clarity in roles and responsibilities of collaborating stakeholders are lacking. Advancements in both aspects will help to facilitate and achieve the expected impact of genomics initiatives and enable effective research translation, implementation, and ultimately improved public health.
DNA-based Population Screening for Precision Public Health
Milkow L, Khoury MJ (eds), Special Topic, Frontiers in Genetics, May 2022
(Posted: May 26, 2022 6AM)
DNA-based population screening to detect an individual's underlying predisposition to serious genetic conditions and improve health outcomes through risk assessment, early detection, and disease prevention, and timely treatment could accelerate the practice of precision public health. However, ascertainment of otherwise apparently healthy individuals with underlying genetic risk will necessitate a departure from the traditional model of familial or personal risk-based genetic testing in speciality settings to a population-based model of screening in primary care or community settings.
The Routine Failure to Clinically Identify Monogenic Cases of Common Disease in Clinical Practice: Addressing Diagnostic Misattributions and Errors
CDC Public Health Genomics Webinar, August 25, 2022
(Posted: May 25, 2022 11AM)
Changes in clinical and laboratory practice are needed to improve the diagnosis of monogenic forms of common diseases. This webinar seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms of disease diverges from standard management and has evidence for improved outcomes. The speakers will review evidence from genomic screening of large patient cohorts, which has confirmed that monogenic case identification failures are commonplace in routine clinical care. These case identification failures constitute diagnostic misattributions-even diagnostic errors- where the care of individuals with monogenic disease defaults to the treatment plan offered to those with polygenic or non-genetic forms of the disease. The number of identifiable and actionable monogenic forms of common diseases is increasing with time.
Coronary Heart Disease, Family History and Public Health: From Familial Hypercholesterolemia to Elevated Lipoprotein A
CDC Public Health Genomics Webinar, October 24, 2022
(Posted: May 25, 2022 11AM)
Familial hypercholesterolemia (FH), a genetic disorder of cholesterol metabolism affecting millions of people, has emerged as public health genomics priority for preventing premature morbidity and mortality from heart disease. In addition, elevated lipoprotein (a) (Lp(a)) increases the risk of coronary heart disease, occur in 1 in 5 people, have a strong genetic basis, and accentuate the cardiovascular risk from FH and other risk factors. This seminar will explore advances in FH and Lp(a) and the emerging clinical and public health approaches to reducing the burden of cardiovascular disease using genetics and family history.
What is the Role of Public Health in Addressing Health Equity in Genomics and Precision Medicine?
MJ Khoury et al, CDC Blog Post, May 16, 2022
(Posted: May 17, 2022 2PM)
“Public health is what we do together as a society to ensure the conditions in which everyone can be healthy. Many sectors play important roles, but governmental public health is an essential component.” There are 3 broad themes for government public health action at the intersection of genomics and health equity, based on the core functions of public health—assessment, policy development, and assurance. Public health is an important part of the solution in dealing with equity challenges in genomics, just as with other fields of health care.
2022 Public Health Genetics Week Events, May 22-27, 2022
NCCRGN, May 2022
(Posted: May 02, 2022 3PM)
From May 23-27, a number of events will be held to celebrate the third annual Public Health Genetics Week! These events range from educational webinars to informative Twitter Chats to much, much more. On the calendar below, you will find published events. Subscribe to be alerted when a new event is added.
Applied Research in Public Health Genomics at the Centers for Disease Control and Prevention
CDC Mini Symposium, May 26, 2022
(Posted: Mar 29, 2022 7AM)
The CDC Office of Genomics and Precision Public Health will hold a mini symposium during national public health genetics to highlight current and future applied research in human genomics and public health at the CDC. This mini symposium will identify opportunities and challenges for using human genomics in public health programs. Speakers will review individual projects and identify cross cutting needs and opportunities for integrating human genomics into public health, using a health equity lens.
Unlocking Access to Broad Molecular Profiling: Benefits, Barriers, and Policy Solutions
DM Thomas et al, Public Health Genomics, March 2022
(Posted: Mar 13, 2022 10AM)
The potential benefits of CGP extend beyond direct patient outcomes, to healthcare systems with societal and economic impacts. Among key barriers impeding integration into routine clinical practice are the lack of infrastructure to ensure reliable clinical testing and the limited understanding of genomics among healthcare personnel. In addition, the absence of health economic evidence supporting broader use of CGP is creating concerns for payers regarding the systemic benefits and affordability of this technology.
Translational Science, DNA Commercialization, and Informed Consent: The Need for Specific Terminology, Insights from a Review of H3Africa Projects
P Marshall et al, Public Health Genomics, March 2022
(Posted: Mar 13, 2022 10AM)
Eighteen investigators submitted documents for projects involving data sharing and use of genetic information. A total of 39 informed consent documents associated with the 18 projects were reviewed. All 18 projects specified that samples would be used in future research. Less than half of the projects included language noting that samples could be used in drug or product development, that DNA samples would not be sold, and that profits would not be shared with participants. Four projects referred to commercialization. Analysis of information included in consent documents contributed to the development of a Commercialization Typology. The Typology identifies factors to consider regarding acceptability of particular instances of commercialization. DNA samples for translational research in product development require a transparent commercialization framework to inform the consent process.
The Current Landscape of CDC Publications in Human Genomics and Public Health
M Clyne et al, CDC Blog Post, January 10, 2022
(Posted: Jan 10, 2022 8AM)
To guide implementation of the new CDC public health genomics initiative, it is important to assess the current landscape of human genomics work at CDC and ATSDR. That knowledge will help guide the development of public health use cases and thus the evidence base for public health action and enable CDC and other organizations to translate lessons learned into public health practices that maximize health and save lives. 156 publications between 2018 and 2021 demonstrate a rich landscape of human genomics studies affecting many areas of public health and representing almost all CDC Centers, Institutes and Offices.
Genomics and Precision Medicine 2021: Progress in Implementation, A Focus on Health Equity, and a New Public Health Initiative
MJ Khoury et al, CDC Blog Post, December 17, 2021
(Posted: Dec 17, 2021 3PM)
We reflect on another eventful year in genomics and precision medicine and review the emerging opportunities for the field to make an impact on population health. As we transition into the new year, we recognize that the impact of genomics and precision medicine is very much a work in progress. We also briefly describe the start of a new five-year public health initiative to integrate human genomics into public health surveillance and research at the CDC.
From Public Health Genomics to Precision Public Health: On to the Next Generation!
Muin J. Khoury Video Presentation, at the Transdisciplinary Conference for Future Leaders in Precision Public Health. Posted on November 11, 2021
(Posted: Nov 12, 2021 11AM)
In this presentation Dr Khoury discusses the evolution of the field of public health genomics over the past 25 years into precision medicine and precision public health, which involves applications of genomics , big data and predictive analytics to population health. He also describes ongoing applications of precision public health to the COVID-19 response.
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.
Mapping Users' Experience of a Family History and Genetic Risk Algorithm Tool in Primary Care.
Miroševic Špela et al. Public health genomics 2021 1-10
(Posted: Sep 17, 2021 6AM)
Resources in Genomics and Precision Health to Enhance Public Health Impact of New Technologies
CDC slide set, 2021
(Posted: Jul 19, 2021 2PM)
The presentation reviews the CDC Public Health Genomics and Precision Health Knowledge Base (PHGKB), a suite of searchable databases that includes publications and other resources. It includes: 1) COVID Genomics and Precision Health, a database that includes publications and other resources about the impact of genomics and precision health technologies on the investigation and control of COVID-19; 2) My Family Health Portrait, a family health history collection tool that allows users to save and share their family health history information; and 3) Specialized PHGKB databases such as reproductive and child health, family health history, and health equity.
DNA-based Population Screening for Precision Public Health
Call for papers, Frontiers in Genetics, July 2021
(Posted: Jul 04, 2021 8AM)
Advancement and increasing availability of sequencing technologies, computational pipelines for variant interpretation, and training of clinical personnel, coupled with decreasing sequencing costs, have nudged genomic sequencing ever closer to the practice of routine health care. While genetic testing has demonstrated utility as an indication-based diagnostic tool for certain diseases, the full potential of genomic sequencing as a non-diagnostic tool for population-level screening is not yet realized.
Collaborating with Central Cancer Registries for Public Health Genomics
CDC, July 2021
(Posted: Jul 04, 2021 7AM)
Central cancer registries make up a comprehensive national network of population-based cancer surveillance to monitor cancer cases at local, state, and national levels. This CDC guide provides examples of how state health departments have collaborated with cancer registries to inform and implement activities in cancer genomics to meet the special needs of people at risk of hereditary cancers.
What should be the public health priorities in genomics and precision medicine in the next decade?
M Khoury et al, CDC Blog Post, June 9, 2021
(Posted: Jun 10, 2021 10AM)
The CDC Office of Genomics and Precision Public Health is undergoing strategic planning to identify major opportunities for impact of public health action in human genomics and precision medicine in the next decade. As part of this process, we interviewed nine persons external to CDC from diverse backgrounds and organizations that represent the leading edge of human genomics in health practice.
Development and Validation of a Comprehensive Genomics Knowledge Scale
MD Linderman et al, Public Health Genomics, June 2021
(Posted: Jun 07, 2021 8AM)
Genomic literacy is a prerequisite for the effective application of genomic testing, creating a corresponding need for validated tools to assess genomics knowledge. We sought to develop a reliable measure of genomics knowledge that incorporates modern genomic technologies and is informative for individuals with diverse backgrounds, including those with clinical/life sciences training.
What is Public Health Genomics? A Day in the Invisible Life of Public Health Genomics (an Encore)
MJ Khoury, CDC Blog Post, May 20, 2021
(Posted: May 20, 2021 9AM)
We published this blog a decade ago. As we celebrate 2021 public health genomics week, we republish the blog to remind our readers of the relevance of genomics to many areas of public health. The topics discussed here may be outdated but the fundamental applications of public health genomics are today more important than ever.
Public Health Genomics Priorities Through a Health Equity Lens
MJ Khoury et al, CDC Blog Post, May 18, 2021
(Posted: May 19, 2021 8AM)
We believe that public health strategies to improve health equity in genomics and precision medicine should go well beyond addressing underrepresentation in discovery research; we must assess how genomic testing and services can actually be implemented in diverse health care settings and communities.
Join Us in Celebrating Public Health Genetics!
Public Health Genetics Week, May 24-28, 2021
(Posted: Apr 27, 2021 8AM)
Public health genetics applies genetic and genomic information to improve public health and prevent disease.
Public health genetics includes healthcare providers, patients, families, federal agencies, public health professionals, and non-profits. During the second annual Public Health Genetics Week, we will be celebrating the efforts of those individuals who participate in the public health genetics system and seek to raise awareness about the field.
Factors Influencing Discussion of Cancer Genetic Testing with Health-Care Providers in a Population-Based Survey.
Makhnoon Sukh et al. Public health genomics 2021 4 1-11
(Posted: Apr 26, 2021 8AM)
A questionnaire including items regarding discussion of cancer genetic testing with HCPs was administered to a nonprobability sample (N = 2,029) of the Texas population. 11% of respondents discussed cancer genetic testing with HCPs. In multivariable analysis, discussion was significantly related to having a personal history of breast/ovarian/colon cancer (OR = 11.57, 95% CI = 5.34-25.03), personal history of other cancer (OR = 3.18, 95% CI = 1.69-5.97), and health information-seeking behaviors (OR = 1.73, 95% CI = 1.12-2.66).
Genetic Testing in Natural History Studies: A Review of the Regulatory and Legal Landscape.
Bevan Andrew et al. Public health genomics 2021 3 1-14
(Posted: Apr 26, 2021 8AM)
19 countries were evaluated; 37% classified NH studies with biomarker collection as noninterventional and 26% required regulatory approval (increasing to 47% when molecular biomarker testing was introduced). No regulatory provisions for genetic testing could be identified in 32% of countries, and 58% did not have binding requirements for genetic counseling.
From Genes to Public Health: Building the Evidence Base for DNA-based Population Screening
MJ Khoury et al, CDC Blog, April 9, 2021
(Posted: Apr 10, 2021 7AM)
In the United States and other counties, the vision of DNA-based population screening has begun to be realized in multiple health systems, population-based biobanks and learning health systems research settings. Recently, the American College of Medical Genetics and Genomics published two guidance documents on DNA-based screening of healthy adults.
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
LH Bean et al, Genetics on Medicine, March 31, 2021
(Posted: Apr 01, 2021 0PM)
This points to consider (PTC) explores the opportunities and challenges presented by exome and genome sequencing (ES/GS) for apparently healthy individuals to inform a genetic predisposition to a disease or disorder. Although the use of DNA-based assays such as ES/GS has become well established in clinical care, the potential to inform diagnosis, prognosis, treatment, and prevention of disease in the absence of a clinical indication is an active area of study but remains unproven
From genes to public health: are we ready for DNA-based population screening?
MJ Khoury et al, Genetics in Medicine, March 31, 2021
(Posted: Apr 01, 2021 0PM)
Two ACMG guidance documents reflect a new approach by marrying the importance of an evidence-based approach of the first document invoking principles of population screening with the importance of ensuring the integrity, quality, and outcomes of the testing process in the context of changing models of implementation.
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
MF Murray et al, Genetics in Medicine, March 2021
(Posted: Mar 22, 2021 8AM)
The statement is to guide programs and sponsoring organizations that are considering DNA-based health screening. In aggregate, DNA-based screening efforts have the potential to improve population health, but only if risk identification is effectively combined with evidence-based risk-reducing clinical care.
Precision Medicine and Public Health: New Challenges for Effective and Sustainable Health.
Traversi Deborah et al. Journal of personalized medicine 2021 11(2)
(Posted: Mar 09, 2021 9AM)
Genetic Variation and Evolution of the 2019 Novel Coronavirus.
Dimonte Salvatore et al. Public health genomics 2021 Jan 1-13
(Posted: Jan 19, 2021 8AM)
Challenges and Opportunities for Communication about the Role of Genomics in Public Health.
Allen Caitlin G et al. Public health genomics 2021 Jan 1-7
(Posted: Jan 15, 2021 8AM)
We describe 5 common communication challenges about the role of genomics in public health: (1) communicating that using genomics to assess rare diseases can have an impact on public health; (2) providing evidence that genetic factors can add important information to environmental, behavioral, and social determinants of health; (3) communicating that although genetic factors are nonmodifiable, they can increase the impact of public health programs and communication strategies; (4) addressing the concern that genomics is not ready for clinical practice; and (5) communicating that genomics is valuable beyond the domain of health care and can be integrated as part of public health programs.
Public Health Genomics in Action: A State-based Approach to Genomics and Precision Health
CDC Webinar, January 28, 2021
(Posted: Dec 22, 2020 8AM)
To date, there are only a few state-based population-based efforts to leverage new science with capacity of medicine, public health and the private sector in improving health outcomes. This seminar will focus on two such initiatives, the Alabama Genomic Health Initiative (AGHI) and the North Carolina Precision Health Collaborative (NCPHC).
A state-based approach to genomics for rare disease and population screening.
East Kelly M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Nov
(Posted: Nov 28, 2020 0PM)
The Alabama Genomic Health Initiative (AGHI) is a state-funded effort to provide genomic testing. AGHI engages two distinct cohorts across the state of Alabama. One cohort includes children and adults with undiagnosed rare disease; a second includes an unselected adult population. Here we describe findings from the first 176 rare disease and 5369 population cohort AGHI participants.
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
EC de Wert et al, JHG, November 22, 2020
(Posted: Nov 23, 2020 8AM)
The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm.
A New Vision for Using Genomics to Improve Health: An Expanded Role for Public Health
MJ Khoury et al, CDC Blog, November 10, 2020
(Posted: Nov 11, 2020 11AM)
The field of genomics has moved rapidly in the past decade, even though the ultimate promise of genomics in improving human health is still work in progress. The NIH bold prediction for 2030 will require a comprehensive approach that includes public health sciences and programs to maximize the value of genomics in improving health for all.
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls
KM Bowling et al, Genetics in Medicine, September 29, 2020
(Posted: Sep 30, 2020 9AM)
The Alabama Genomic Health Initiative (AGHI) has enrolled and evaluated 5369 participants for the presence of pathogenic/likely pathogenic (P/LP) variants using a Global Screening Array (GSA). Among 131 variants identified by the GSA that were evaluated by Sanger sequencing, 67 (51%) were false positives (FP).
Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework.
Green Ridgely Fisk et al. Public health genomics 2020 Sep 1-12
(Posted: Sep 18, 2020 9AM)
We identified state health agency activities addressing hereditary breast and ovarian cancer and Lynch syndrome by reviewing project narratives from Centers for Disease Control and Prevention Cancer Genomics Program funding recipients, leading discussions with state health agencies, and conducting an environmental scan.
Could population genetic screening improve public health?
C Gallagher, Mayo Clinic Blog, August 2020
(Posted: Aug 19, 2020 7AM)
Studies have found predisposition genetic screening with a limited panel of genetic information to be cost effective in a population under the age of 45. However, a population health screening approach to genetic medicine requires scrutiny, given the potential for added costs, over interpretation of disease risk and ethical and social factors.
Bringing monogenic disease screening to the clinic
MF Murray et al, Nature Medicine, July 31, 2020
(Posted: Jul 31, 2020 2PM)
The Healthy Nevada Project shows that otherwise invisible disease risk can be revealed through DNA-based screening. Identifying these monogenic risks could be the first step toward a new population health-screening program.
Integrating Personalized Medicine With Population Health Management- The Path Forward
DC Grossman et al, July 30, 2020
(Posted: Jul 30, 2020 11AM)
While genomics and personalized medicine may be a key to population health, the way forward will be costly, wasteful, and potentially harmful without the establishment of priorities, adherence to rules of evidence, and the patience to wait for outcomes to unfold over years of observation.
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
JJ Grzymski et al, Nature Medicine, July 27, 2020
(Posted: Jul 27, 2020 1PM)
In a cohort of 26,906 participants in the Healthy Nevada Project, we found a 1.33% combined carrier rate for pathogenic and likely pathogenic genetic variants for HBOC, LS and FH. Of these carriers, 21.9% had clinically relevant disease, 90% had not been previously identified, and <19.8% had documentation in medical records of inherited risk, including family history.
A Genomic Test for Colorectal Cancer Risk: Is This Acceptable and Feasible in Primary Care?
S Saya et al, Public Health Genomics, July 2020
(Posted: Jul 21, 2020 7AM)
We aimed to assess the feasibility and acceptability of administering a CRC genomic test in primary care. In 150 participants, test uptake was high (126, 84%), with 125 (83%) having good knowledge of the genomic test. Moderate risk participants were impacted more by the test.
Variations in the Referral Pattern for Genetic Counseling of Patients with Early-Onset Breast Cancer: A Population-Based Study in Southern Sweden
A Augustinsson et al, Public Health Genomics, July 2020
(Posted: Jul 21, 2020 7AM)
Our results suggest that place of residence at breast cancer diagnosis and treating hospital were associated with the probability of referral for genetic counseling and testing for women diagnosed with BC at =35 years in the South Swedish Health Care Region.
Clinical outcomes of a genomic screening program for actionable genetic conditions
AH Buchanan et al, Genetics in Medicine, June 30, 2020
(Posted: Jul 01, 2020 8AM)
A study of electronic health records shows that among individuals with variants in tier1 genes (BRCA, Lynch syndrome, familial hypercholesterolemia, 87% did not have a prior genetic diagnosis. Genomic screening programs can identify individuals at increased risk of cancer and heart disease and facilitate risk management and early cancer detection.
Public Health Genetics Week, May 26-29, 2020
National Coordinating Center for the Regional Genetics Network, May 26-29, 2020
(Posted: May 25, 2020 9AM)
The National Coordinating Center for the Regional Genetics Network (NCC) is excited to announce the first-ever Public Health Genetics Week from May 26-29, 2020. The goal of Public Health Genetics Week is to both increase awareness about, and to celebrate the efforts of professionals in, public health genetics.
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History
AP Patel, JAMA Network Open, April 29, 2020
(Posted: Apr 30, 2020 8AM)
In this cohort study of 49?738 participants in the UK Biobank, a pathogenic or likely pathogenic variant associated with the 3 tier 1 genomic conditions (BRCA, Lynch syndrome, FH) was identified in 0.9% of participants. These individuals had an increased risk of disease identified by gene sequencing that was not found through self-reported family history.
Genomic Medicine Year in Review 2019: What’s Hot for Public Health Impact?
MJ Khoury, CDC Blog Post, December 16, 2019
(Posted: Dec 17, 2019 6AM)
Of the top 10 papers identified by the working group, we feature 5 that have immediate or near- term impact on clinical practice and public health. We chose the papers based on our tiered classification of guidelines on genomic applications. The papers feature tier 1 or tier 2 applications.
The Current Practice of Lynch Syndrome Diagnosis and Management in Italy: A Qualitative Assessment.
Tognetto Alessia et al. Public health genomics 2019 Dec 1-19
(Posted: Dec 07, 2019 7AM)
DNA-Based Population Screening- Potential Suitability and Important Knowledge Gaps
MF Murray et al, JAMA, December 6, 2019
(Posted: Dec 06, 2019 0PM)
Optimized DNA-based population screening for selected genes has been proposed as an approach with the potential to offer short-term benefit for the estimated 3 to 4 million individuals in the United States with 1 of these risks and longer-term benefit to more people. However, many questions need to be answered before commencing with routine population screening.
Information Provided to Consumers about Direct-to-Consumer Nutrigenetic Testing.
De Suchetana et al. Public health genomics 2019 Nov 1-12
(Posted: Dec 04, 2019 9AM)
The complex structure of the websites made it difficult to find all key information, with many important aspects buried in legal documents, which were challenging to comprehend even for a professional. The structure of the websites and the amount and quality of the content therein do not support a well-informed decision.
Tracking human genes along the translational continuum
K Lee et al, NPJ Genomic Medicine, October 16, 2019
(Posted: Oct 17, 2019 9AM)
Understanding the drivers of research on human genes is a critical component to success of translation efforts of genomics into medicine and public health. Using publicly available curated online databases we sought to identify specific genes that are featured in translational genetic research in comparison to all genomics research publications.
From Public Health Genomics to Precision Public Health: A 20-Year Journey
Muin J. Khoury, Video webinar, University of Florida, Department of Epidemiology, October 3, 2019
(Posted: Oct 07, 2019 9AM)
In this presentation, we trace the evolution of the impact of genomics on public health and the evolution of public health genomics into precision public health. Precision public health is about delivering the right intervention to the right population at the right time. It is about the use of data by time, space and persons to improve population health.
Introducing the CDC Office of Genomics and Precision Public Health: What’s in a Name?
M Khoury, CDC Blog, September 30, 2019
(Posted: Oct 01, 2019 8AM)
Starting this week, the CDC Office of Public Health Genomics will be renamed the CDC Office of Genomics and Precision Public Health. In many ways, this transition has been a few years in the making and reflects the continuous broadening of our scope from human genomics and public health to include other areas relevant to “precision” health technologies.
Healthcare System-Funded Preventive Genomic Screening: Challenges for Australia and Other Single-Payer Systems
P Lacaze et al, Public Health Genomics, September 24, 2019
(Posted: Sep 25, 2019 9AM)
The prospect of healthcare systems offering preventive genomic testing to all adults is becoming feasible. Some single-payer or state-funded healthcare systems are already considering offering universal testing as part of routine care. The paper outlines challenges ahead in considering screening and discusses research that is helping shape future direction.
How Public Health Can Learn From and Inform the Precision Medicine All of Us Research Program?
CDC Public Health Genomics Seminar, November 21, 2019
(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.
Personal Genetic Information about HIV: Research Participants' Views of Ethical, Social, and Behavioral Implications.
Boyce Angie et al. Public health genomics 2019 Aug 1-10
(Posted: Sep 01, 2019 7AM)
Public Understanding and Opinions regarding Genetic Research on Alzheimer's Disease.
Kent Saida et al. Public health genomics 2019 Jul (5-6) 228-237
(Posted: Jul 22, 2019 8AM)
Beyond Public Health Genomics: Can Big Data and Predictive Analytics Deliver Precision Public Health?
Khoury MJ et al, Public Health Genomics, July 17, 2019
(Posted: Jul 18, 2019 8AM)
This CDC paper explores how big data and predictive analytics can contribute to precision public health by improving public health surveillance and assessment, and efforts to promote uptake of evidence-based interventions, by including more extensive information related to place, person, and time.
Nevada Health Study Using Genetics To Fight Disease Statewide
N Glick, KUNR, June 28, 2019
(Posted: Jul 01, 2019 1PM)
The Healthy Nevada Project kicked off in 2016, and so far, has around 50,000 participants. Its aim is to eventually reach 1 million people across Nevada. Anyone can sign up, which is what makes it the largest community-based population health study of its kind in the world. For now, the study is looking for three gene variants that are linked to colon cancer, high cholesterol and breast and ovarian cancer.
Assessing Gene-Environment Interactions in the Study of Rare Diseases
CDC Webinar, August 21, 2019
(Posted: Jun 28, 2019 8AM)
The third installment of the 2019 CDC summer public health genomics seminar series. Sign up today to all three seminars, also available for viewing remotely and covering a wide range of topics from infectious disease, big data and rare diseases.
Genomics, Big Data and Data Science in Public Health
CDC Webinar, August 9, 2019
(Posted: Jun 28, 2019 8AM)
Investigation of Host Genetic Factors in Infectious Diseases: Acute Flaccid Myelitis (AFM)
CDC Webinar, July 23, 2019
(Posted: Jun 28, 2019 8AM)
Generic Cost-Effectiveness Models: A Proof of Concept of a Tool for Informed Decision-Making for Public Health Precision Medicine.
Snyder Susan R et al. Public health genomics 2019 Jun 1-11
(Posted: Jun 16, 2019 8AM)
Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed
JJ Grzymski et al, BioRXIV Genetics, May 27, 2019
(Posted: May 29, 2019 11AM)
Lifestyle Interventions for Weight Control Modified by Genetic Variation: A Review of the Evidence.
Tan Pui Yee et al. Public health genomics 2019 May 1-17
(Posted: May 27, 2019 5PM)
Implementation of public health genomics in Pakistan
M Riaz et al, Eur J Hum Genetics, May 17, 2019
(Posted: May 18, 2019 0PM)
