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MTNR1B rs1387153 polymorphism and risk of gestational diabetes mellitus:Meta-Analysis and Trial Sequential Analysis. Public Health Genom. (IF 1.7) Pub Date : 2023-11-17 Dan Shan,Ao Wang,Ke Yi
INTRODUCTION Published data on the association between the MTNR1B rs1387153 polymorphism and gestational diabetes mellitus(GDM) risk are controversial. A meta-analysis was performed to assess whether the polymorphism of MTNR1B rs1387153 is associated with GDM risk. METHODS Medline, Embase, China National Knowledge Infrastructure, and Chinese Biomedicine Databases were searched to identify eligible
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Digital health tools in genomics: Advancing diversity, equity and inclusion. Public Health Genom. (IF 1.7) Pub Date : 2023-10-26 Daniel Assamad,Safa Majeed,Vernie Aguda,Sonya Grewal,Carly Butkowsky,Marc Clausen,Guylaine D'Amours,Yvonne Bombard
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Call to Action for Advancing Equitable Genomic Newborn Screening. Public Health Genom. (IF 1.7) Pub Date : 2023-10-17 Anne L Ersig,Cheedy Jaja,Audrey Tluczek
Newborn screening (NBS) facilitates early detection and treatment of infants with rare, treatable conditions, improving their health and well-being. Integrating genomic sequencing into NBS (genomic newborn screening, or gNBS) is an approach being considered by an increasing number of jurisdictions worldwide. Despite the potential benefits of gNBS, there remain substantial challenges to its global implementation
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Consideration of the Beneficiary Inducement Statute on Access to Health Care Systems' Population Genetic Screening Programs. Public Health Genom. (IF 1.7) Pub Date : 2023-09-29 Aurora M Washington,Kimberly Foss,Joan H Krause,Arlene M Davis,Kristine J Kuczynski,Laura V Milko,Jonathan S Berg,Megan C Roberts
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ConnectMyVariant: An Innovative Use of Technology and Social Networks to Realize the Benefits of Cascade Screening. Public Health Genom. (IF 1.7) Pub Date : 2023-09-26 Brian H Shirts
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Public Health Genomics: Time to Sharpen the Focus. Public Health Genom. (IF 1.7) Pub Date : 2023-09-20 Colleen M McBride,J Scott Roberts,Sarah Knerr,Yue Guan
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Just Dissemination of Genomics-Informed Public Health Applications: Time to Deepen Our Public Engagement Approaches. Public Health Genom. (IF 1.7) Pub Date : 2023-09-13 Yue Guan,Colleen M McBride,Sarita Pathak,Michele C Gornick
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Future Forecasting for Research and Practice in Genetic Literacy. Public Health Genom. (IF 1.7) Pub Date : 2023-09-12 Kimberly A Kaphingst
Information generated by genomic discoveries is increasingly accessible in clinical, public health, and direct-to-consumer contexts, reaching broader segments of the population than with traditional genetic services models [1]. With this expansion has come a recognition of the critical importance of communicating about genetics and genomics in ways that support access to, decisions about, and utilization
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Refining a multifaceted model of perceived utility of genomic sequencing results. Public Health Genom. (IF 1.7) Pub Date : 2023-08-22 Devan M Duenas,Leslie Riddle,Claudia Guerra,Mikaella Caruncho,Hannah Lewis,Kathryn M Porter,Stephanie A Kraft,Katherine Patrice Anderson,Barbara Biesecker,Marian J Gilmore,Jamilyn M Zepp,Michael C Leo,Benjamin S Wilfond,Galen Joseph
INTRODUCTION 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.
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Factors influencing genetic screening enrollment among a diverse, community-ascertained cohort. Public Health Genom. (IF 1.7) Pub Date : 2023-08-21 Nandana D Rao,Jailanie Kaganovsky,Stephanie M Fullerton,Annie T Chen,Brian H Shirts
INTRODUCTION Genetic screening for preventable adult-onset hereditary conditions has been proposed as a mechanism to reduce health disparities. Analysis of how race and ethnicity influence decision-making to receive screening can inform recruitment efforts and more equitable population screening design. A study at the University of Washington Medicine that invited unselected patients to participate
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Financial advisers' and key informants' perspectives on the Australian industry-led Moratorium on Genetic Tests in Life Insurance. Public Health Genom. (IF 1.7) Pub Date : 2023-08-11 Casey Michelle Haining,Jane Tiller,Margaret Otlowski,Penny Gleeson,Carsten Murawski,Kristine Barlow-Stewart,Paul Lacaze,Aideen McInerney-Leo,Louise Anne Keogh
INTRODUCTION Genetic discrimination (GD) in the context of life insurance is a perennial concern in Australia and internationally. To address such concerns in Australia, an industry self-regulated Moratorium on Genetic Tests in Life Insurance was introduced in 2019 to restrict life insurers from using genetic test results in underwriting for policies under certain limits. Financial advisers (FAs) are
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Genetic testing and other healthcare use by Black and white individuals in a genomic sequencing study. Public Health Genom. (IF 1.7) Pub Date : 2023-08-04 Katherine W Saylor,William Mp Klein,Larissa Calancie,Katie L Lewis,Leslie G Biesecker,Erin Turbitt,Megan C Roberts
INTRODUCTION Early adopters play a critical role in the diffusion of medical innovations by spreading awareness, increasing acceptability, and driving demand. Understanding the role of race in the context of other characteristics of potential early adopters can shed light on disparities seen in the early implementation of genomic medicine. We aimed to understand the association between self-identified
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Your Family Connects: A Theory-Based Intervention to Encourage Communication About Possible Inherited Cancer Risk among Ovarian Cancer Survivors and Close Relatives. Public Health Genom. (IF 1.7) Pub Date : 2023-07-24 Jingsong Zhao,Colleen M McBride,Gavin P Campbell,Rebecca D Pentz,Cam Escoffery,Michael Konomos,Cecelia Bellcross,Kevin Ward,James R Shepperd,Yue Guan
INTRODUCTION 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
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Rethinking Benefit and Responsibility in in the Context of Diversity: Perspectives from the Frontlines of Precision Medicine Research. Public Health Genom. (IF 1.7) Pub Date : 2023-07-13 Emily Vasquez,Nicole Foti,Caitlin E McMahon,Melanie Jeske,Michael Bentz,Stephanie Fullerton,Janet K Shim,Sandra Soo-Jin Lee
INTRODUCTION Federal agencies have instituted guidelines to prioritize the enrollment and retention of diverse participants in precision medicine research (PMR). Prior studies examining participation of minoritized communities have shown that potential benefits represent a key determinant. Human subjects research guidance, however, conceptualizes potential benefits narrowly, emphasizing generalized
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Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network. Public Health Genom. (IF 1.7) Pub Date : 2023-06-23 Bibiana Mello de Oliveira,Mariane Barros Neiva,Isabelle Carvalho,Ida Vanessa Doederlein Schwartz,Domingos Alves,Temis Maria Felix,
INTRODUCTION The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several reference centers and incorporating many genetic tests for the diagnosis of rare diseases (RDs). The Brazilian Network of Rare Diseases (RARAS) comprises more than 40 institutions that offer diagnosis and treatment for RDs in Brazil. This network includes Reference
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A genetic counselor's reflections on lessons learned, challenges, and successes experienced during a one-year pilot integration in a primary care clinic. Public Health Genom. (IF 1.7) Pub Date : 2023-06-12 Prescilla B Carrion,Jehannine Austin,Alison M Elliott
This practice-related insight article describes the experience of a genetic counselor being integrated into a multidisciplinary primary care clinic that provides care for a predominantly marginalized patient population in Victoria, British Columbia, Canada. Reflections on the lessons learned, including challenges and successes during this one-year pilot integration are shared by the genetic counselor
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Evaluating rural Ethiopian youths' willingness and competency to promote literacy regarding G x E influences on podoconiosis. Public Health Genom. (IF 1.7) Pub Date : 2023-05-05 Desta Ayode,Kibur Engdawork,Renee Moore,Getnet Tadele,Gail Davey,Colleen M McBride
INTRODUCTION Engaging youth as peer educators has yet to be considered to promote literacy concerning conjoint genetic and environmental (G x E) influences on health conditions. Whether youth living in Low and Middle Income Countries (LMICs) could and would be willing to serve as lay educators of G x E education is unclear. METHODS A cross-sectional survey of youth living in Southern Ethiopia was conducted
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Behavioral changes after psychiatric genetic counseling: an exploratory study Public Health Genom. (IF 1.7) Pub Date : 2023-04-05 Stephanie Huynh, Emily Morris, Angela Inglis, Jehannine Austin
Introduction: Though it is well established that genetic information does not produce behavior changes, there are limited data regarding whether genetic counseling can facilitate change in life-style and health behaviors that can result in improved health outcomes. Methods: To explore this issue, we conducted semi-structured interviews with eight patients who had lived experience of psychiatric illness
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Human-centered design study to inform traceback cascade genetic testing programs at three integrated health systems Public Health Genom. (IF 1.7) Pub Date : 2023-03-03 Katrina M. Romagnoli, Alanna Kulchak Rahm, Mary Cabell Jonas, Rachel Schwiter, Tracey Klinger, Ilene Ladd, Zachary Salvati, Anna DiNucci, Paula Rae Blasi, Leigh Sheridan, Aaron Scrol, Nora B Henrikson
Introduction: A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served. Methods: We conducted a remote, human-centered design research study of people with ovarian, fallopian
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Human-centered design study to inform traceback cascade genetic testing programs at three integrated health systems Public Health Genom. (IF 1.7) Pub Date : 2023-03-03
Introduction: A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served. Methods: We conducted a remote, human-centered design research study of people with ovarian, fallopian
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Predictors of Women’s Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members Public Health Genom. (IF 1.7) Pub Date : 2023-01-14 Carolyn Winskill, Melody S. Goodman, Brianne M. Daly, Ashley Elrick, Ryan Mooney, Whitney Espinel, Wendy Kohlmann, Kimberly A. Kaphingst
Introduction: Many individuals who previously received negative genetic test results are eligible for updated testing. This study examined intention to communicate updated genetic test results to relatives in participants who previously received negative genetic test results. Methods: Women with a personal or family history of breast or ovarian cancer who tested negative for BRCA1/2 before 2013 were
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Predictors of Women’s Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members Public Health Genom. (IF 1.7) Pub Date : 2023-01-14
Introduction: Many individuals who previously received negative genetic test results are eligible for updated testing. This study examined intention to communicate updated genetic test results to relatives in participants who previously received negative genetic test results. Methods: Women with a personal or family history of breast or ovarian cancer who tested negative for BRCA1/2 before 2013 were
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Is Habitual Dietary Intake of Fats Associated with Apelin Gene Expression in Visceral and Subcutaneous Adipose Tissues and Its Serum Levels in Obese Adults? Public Health Genom. (IF 1.7) Pub Date : 2022-12-08 Maryam Zarkesh, Mohammad Safarian, Golaleh Asghari, Afsoon Daneshafrooz, Emad Yuzbashian, Mehdi Hedayati, Parvin Mirmiran, Alireza Khalaj
Introduction: Apelin could be one of the last protective defenses before developing obesity-related disorders, including insulin resistance, type 2 diabetes, and hypertension, which can be modified by dietary intake. The present study investigated the association of habitual intake of total fatty acids (TFAs), saturated-, monounsaturated-, polyunsaturated FAs, n-3, and n-6 FAs with Apelin expression
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Is Habitual Dietary Intake of Fats Associated with Apelin Gene Expression in Visceral and Subcutaneous Adipose Tissues and Its Serum Levels in Obese Adults? Public Health Genom. (IF 1.7) Pub Date : 2022-12-08
Introduction: Apelin could be one of the last protective defenses before developing obesity-related disorders, including insulin resistance, type 2 diabetes, and hypertension, which can be modified by dietary intake. The present study investigated the association of habitual intake of total fatty acids (TFAs), saturated-, monounsaturated-, polyunsaturated FAs, n-3, and n-6 FAs with Apelin expression
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Acknowledgement to Reviewers Public Health Genom. (IF 1.7) Pub Date : 2022-12-02
Public Health Genomics 2022;25:232–232
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Acknowledgement to Reviewers Public Health Genom. (IF 1.7) Pub Date : 2022-12-02
Public Health Genomics 2022;25:232–232
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Integrating genomics into the care of people with palliative needs: A global scoping review of policy recommendations Public Health Genom. (IF 1.7) Pub Date : 2022-11-15 Stephanie White, Gemma McErlean, Claudia Virdun, Jane L Phillips, Chris Jacobs
BACKGROUND: Genomics has growing relevance to palliative care, where testing largely benefits relatives. Integration of genomics into the care of patients with palliative care needs has not received the critical attention it requires, and health professionals report a lack of policy guidance to support them to overcome practice barriers. SUMMARY: To identify policy recommendations related to: (1) integrating
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Integrating Genomics into the Care of People with Palliative Needs: A Global Scoping Review of Policy Recommendations Public Health Genom. (IF 1.7) Pub Date : 2022-11-15
Background: Genomics has growing relevance to palliative care, where testing largely benefits relatives. Integrating genomics into palliative care has not received the critical attention it requires. Health professionals report a lack of policy guidance to support them to overcome practice barriers to identify palliative patients who are eligible for genetic testing, provide genetic counselling, and
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Genetic Variants in MIR3142HG Contribute to the Predisposition of IgA Nephropathy in a Chinese Han Population Public Health Genom. (IF 1.7) Pub Date : 2022-10-11 Yun Cao, Ru Wang, Haizhen Zhang, Peiming Zhai, Jiali Wei
Background: The study aimed to evaluate the association of genetic variants in MIR3142HG with the predisposition of IgA nephropathy (IgAN) in a Chinese Han population. Methods: Six single-nucleotide polymorphisms (SNPs) in MIR3142HG were chosen for genotyping among 417 IgAN cases and 424 healthy controls using Agena MassARRAY technique. Logistic regression models adjusted for age and gender were used
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Genetic Variants in MIR3142HG Contribute to the Predisposition of IgA Nephropathy in a Chinese Han Population Public Health Genom. (IF 1.7) Pub Date : 2022-10-11
Background: The study aimed to evaluate the association of genetic variants in MIR3142HG with the predisposition of IgA nephropathy (IgAN) in a Chinese Han population. Methods: Six single-nucleotide polymorphisms (SNPs) in MIR3142HG were chosen for genotyping among 417 IgAN cases and 424 healthy controls using Agena MassARRAY technique. Logistic regression models adjusted for age and gender were used
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The Joint Public Health Impact of Family History of Diabetes and Cardiovascular Disease among Adults in the United States: A Population-Based Study Public Health Genom. (IF 1.7) Pub Date : 2022-10-06 Danielle Rasooly, Quanhe Yang, Ramal Moonesinghe, Muin J. Khoury, Chirag J. Patel
Introduction: Family history is an established risk factor for both cardiovascular disease (CVD) and diabetes; however, no study has presented population-based prevalence estimates of family histories of CVD and diabetes and examined their joint impact on prevalence of diabetes, CVD, cardiometabolic risk factors, and mortality risk. Methods: We analyzed data from a representative sample of the US adult
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The Joint Public Health Impact of Family History of Diabetes and Cardiovascular Disease among Adults in the United States: A Population-Based Study Public Health Genom. (IF 1.7) Pub Date : 2022-10-06
Introduction: Family history is an established risk factor for both cardiovascular disease (CVD) and diabetes; however, no study has presented population-based prevalence estimates of family histories of CVD and diabetes and examined their joint impact on prevalence of diabetes, CVD, cardiometabolic risk factors, and mortality risk. Methods: We analyzed data from a representative sample of the US adult
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Which Test Is Best? A Cluster-Randomized Controlled Trial of a Risk Calculator and Recommendations on Colorectal Cancer Screening Behaviour in General Practice Public Health Genom. (IF 1.7) Pub Date : 2022-10-04 Lyndal J. Trevena, Bettina Meiser, Llewellyn Mills, Timothy Dobbins, Danielle Mazza, Jon D. Emery, Judy Kirk, Annabel Goodwin, Kristine Barlow-Stewart, Sundresan Naicker
Introduction: This cluster-randomized controlled trial aimed to assess the effect of the “Which test is best?” tool on risk-appropriate screening (RAS) and colorectal cancer (CRC) screening uptake. Methods: General practices in Sydney and Melbourne, Australia, and a random sub-sample of 460 patients (aged 25–74 years) per practice were invited by post. Clusters were computer randomized independently
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Which Test Is Best? A Cluster-Randomized Controlled Trial of a Risk Calculator and Recommendations on Colorectal Cancer Screening Behaviour in General Practice Public Health Genom. (IF 1.7) Pub Date : 2022-10-04
Introduction: This cluster-randomized controlled trial aimed to assess the effect of the “Which test is best?” tool on risk-appropriate screening (RAS) and colorectal cancer (CRC) screening uptake. Methods: General practices in Sydney and Melbourne, Australia, and a random sub-sample of 460 patients (aged 25–74 years) per practice were invited by post. Clusters were computer randomized independently
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Knowledge and Attitudes about Privacy and Secondary Data Use among African-Americans Using Direct-to-Consumer Genetic Testing Public Health Genom. (IF 1.7) Pub Date : 2022-09-27 Emily Ziegler, Janessa Mladucky, Bonnie Baty, Rebecca Anderson, Jeffrey Botkin
Introduction: The rapidly expanding direct-to-consumer genetic testing (DTC GT) market is one area where narratives of underrepresented populations have not been explored extensively. This study describes African-American consumers’ personal experiences with and perceptions about DTC GT and explores similarities and differences between African-Americans and an earlier cohort of mostly European American
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Knowledge and Attitudes about Privacy and Secondary Data Use among African-Americans Using Direct-to-Consumer Genetic Testing Public Health Genom. (IF 1.7) Pub Date : 2022-09-27
Introduction: The rapidly expanding direct-to-consumer genetic testing (DTC GT) market is one area where narratives of underrepresented populations have not been explored extensively. This study describes African-American consumers’ personal experiences with and perceptions about DTC GT and explores similarities and differences between African-Americans and an earlier cohort of mostly European American
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Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing Public Health Genom. (IF 1.7) Pub Date : 2022-09-15 George Thomas Timmins, Julia Wynn, Akilan Murugesan Saami, Aileen Espinal, Wendy K. Chung
Objective: The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing. Study Design: 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
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Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing Public Health Genom. (IF 1.7) Pub Date : 2022-09-15
Objective: The aim of this study was to explore the parental views, attitudes, and preferences of expanded newborn screening (NBS) through genomic sequencing. Study Design: 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
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Associations between TNFAIP3 Polymorphisms and Rheumatoid Arthritis: A Systematic Review and Meta-Analysis Update with Trial Sequential Analysis Public Health Genom. (IF 1.7) Pub Date : 2022-09-12 Young Ho Lee, Gwan Gyu Song
Introduction: The tumor necrosis factor alpha inducible protein 3 (TNFAIP3) gene produces ubiquitin-editing protein A20, which inhibits nuclear factor-κB (NF-κB) activation in a variety of signaling pathways. We examined the association between TNFAIP3 polymorphisms and rheumatoid arthritis (RA) susceptibility. Methods: MEDLINE, Embase, Scopus, and Web of Science were searched for available articles
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Communicating Precision Medicine Research: Multidisciplinary Teams and Diverse Communities Public Health Genom. (IF 1.7) Pub Date : 2022-08-23 Julie A. Beans, Susan B. Trinidad, Erika Blacksher, Vanessa Y. Hiratsuka, Paul Spicer, Erica L. Woodahl, Bert B. Boyer, Cecil M. Lewis Jr., Patrick M. Gaffney, Nanibaa’ A. Garrison, Wylie Burke
Introduction: Precision medicine research investigates the differences in individuals’ genetics, environment, and lifestyle to tailor health prevention and treatment options as part of an emerging model of health care delivery. Advancing precision medicine research will require effective communication across a wide range of scientific and health care disciplines and with research participants who represent
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Evaluating the Effectiveness of a Telehealth Cancer Genetics Program: A BRCA Pilot Study Public Health Genom. (IF 1.7) Pub Date : 2022-08-09 Esther Rose, Melanie Walker Hardy, Rachael Gates, Christine Stanislaw, Jane Meisel, Karen Arnovitz Grinzaid
Introduction: 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. Other goals were to determine
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Screening of Serum miRNAs as Diagnostic Biomarkers for Lung Cancer Using the Minimal-Redundancy-Maximal-Relevance Algorithm and Random Forest Classifier Based on a Public Database Public Health Genom. (IF 1.7) Pub Date : 2022-08-02 Xiaoyan Huang, Xiong Chen, Xi Chen, Wenling Wang
Background: Lung cancer is one of the deadliest cancers, early diagnosis of which can efficiently enhance patient’s survival. We aimed to screening out the serum miRNAs as diagnostic biomarkers for patients with lung cancer. Methods: A total of 416 remarkably differentially expressed miRNAs were acquired using the limma package, and next feature ranking was derived by the minimal-redundancy-maximal-relevance
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An Electronic Health Record Tool Increases Genetic Counseling Referral of Individuals at Hereditary Cancer Risk: An Intervention Study Public Health Genom. (IF 1.7) Pub Date : 2022-07-27 Elisabeth J. Wurtmann, Shari Baldinger, Susan Olet, Ashley Daley, Karen K. Swenson
Introduction: There is widespread under-identification of individuals at hereditary cancer risk despite national guidelines calling for screening. We evaluated the utilization of a tool embedded in the electronic health record (EHR) to assist primary care providers in screening patients for cancer genetic counseling referral. Methods: We designed BestPractice Advisories linked to a Genetic Cancer Screening
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“A Gift to My Family for Their Future”: Attitudes about Genetic Research Participation Public Health Genom. (IF 1.7) Pub Date : 2022-05-11 Sarah D. Madrid, Erica Blum-Barnett, Amy A. Lemke, Vivian Pan, Valerie Paolino, Elizabeth A. McGlynn, Andrea N. Burnett-Hartman
Background: Broad participation in genetic research is needed to promote equitable advances in disease treatment and prevention. Objectives: The objective of the study was to assess motivations for, and concerns about, genetic research participation. Methods: The Genetics in Research and Health Care Survey was sent in winter 2017–2018 to 57,331 adult Kaiser Permanente (KP) members from 7 US regions
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A Case-Control Study of the Luteinizing Hormone Level in Luteinizing Hormone Receptor Gene (rs2293275) Polymorphism in Polycystic Ovarian Syndrome Females Public Health Genom. (IF 1.7) Pub Date : 2022-03-29 Manar Fayiz Atoum, Mai Mahamad Alajlouni, Foad Alzoughool
Background: Polycystic ovary syndrome (PCOS) is a common heterogeneous disorder characterized by chronic anovulation, infertility, polycystic ovaries, and hyperandrogenic signs. Objective: The aim of this study was to determine the association of luteinizing hormone/chorionic gonadotropin hormone receptor LHCGR polymorphism (rs2293275) with oligomenorrhea, amenorrhea, hirsutism, acne, infertility,
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Translational Science, DNA Commercialization, and Informed Consent: The Need for Specific Terminology, Insights from a Review of H3Africa Projects Public Health Genom. (IF 1.7) Pub Date : 2022-01-25 Patricia Marshall, Charmaine D.M. Royal, Ruth Chadwick
In the past decade, there has been an acceleration in genomic research, its applications, and its translation into healthcare products and services for the benefit of public health. These advances are critical to realizing the potential of genomic research for facilitating improved health and disease prevention, diagnosis, and treatment. Despite its tremendous opportunities, the dynamic and increasingly
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Temporal Patterns in the Evolutionary Genetic Distance of SARS-CoV-2 during the COVID-19 Pandemic Public Health Genom. (IF 1.7) Pub Date : 2022-01-05 Jingzhi Lou, Shi Zhao, Lirong Cao, Hong Zheng, Zigui Chen, Renee W.Y. Chan, Marc K.C. Chong, Benny C.Y. Zee, Paul K.S. Chan, Maggie H. Wang
During coronavirus disease 2019 (COVID-19) pandemic, the genetic mutations of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) occurred frequently. Some mutations in the spike protein are considered to promote transmissibility of the virus, while the mutation patterns in other proteins are less studied and may also be important in understanding the characteristics of SARS-CoV-2. We used
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Unlocking Access to Broad Molecular Profiling: Benefits, Barriers, and Policy Solutions Public Health Genom. (IF 1.7) Pub Date : 2021-12-27 David M. Thomas, Joanne M. Hackett, Stjepko Plestina
Objectives: “Personalized healthcare” is generating new approaches to disease management by considering inter-individual variability in genes, environment, and lifestyle. Technologies such as comprehensive genomic profiling (CGP) are drivers of this shift. Here, we address the significant hurdles to the equitable implementation of CGP into routine clinical practice. Methods: This article draws on published
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Comparison of a Cancer Family History Collection and Risk Assessment Tool – ItRunsInMyFamily – with Risk Assessment by Health-Care Professionals Public Health Genom. (IF 1.7) Pub Date : 2021-12-06 Jordon B. Ritchie, Brandon M. Welch, Caitlin G. Allen, Lewis J. Frey, Heath Morrison, Joshua D. Schiffman, Alexander V. Alekseyenko, Brian Dean, Chanita Hughes Halbert, Cecelia Bellcross
Introduction: Primary care providers (PCPs) and oncologists lack time and training to appropriately identify patients at increased risk for hereditary cancer using family health history (FHx) and clinical practice guideline (CPG) criteria. We built a tool, “ItRunsInMyFamily” (ItRuns) that automates FHx collection and risk assessment using CPGs. The purpose of this study was to evaluate ItRuns by measuring
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“We-Diseases” and Dyadic Decision-Making Processes: A Critical Perspective Public Health Genom. (IF 1.7) Pub Date : 2021-11-23 Serena Petrocchi, Chiara Marzorati, Marianna Masiero
This is a critical perspective paper discussing the theoretical bases and methodological issues regarding dyadic decision-making processes in the oncological domain. Decision-making processes are of a central interest when one partner in a couple has cancer, and patients and partners make decisions together under an interactive and dynamic process. Given that, the attention in research is progressively
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Association between Genetic Polymorphisms of MIR3142HG and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Population of Northern China Public Health Genom. (IF 1.7) Pub Date : 2021-11-17 Tiantian Wang, Huiqiang Wu, Menghu Sun, Tingting Liu, Feimeng An, Qiumei Dong, Jianzhong Wang
Background: Steroid-induced osteonecrosis of the femoral head (ONFH) is aseptic necrosis of the femoral head caused by glucocorticoid use. Once necrotic femoral head necrosis occurs, it irreversibly affects the quality of life seriously. Studies have shown that the susceptibility to steroid-induced ONFH is likely to be related to the variation of miRNA-coding genes. Therefore, this study aimed was
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Acknowledgement to Reviewers Public Health Genom. (IF 1.7) Pub Date : 2021-11-01
Public Health Genomics 2021;24:315
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Genetic and Nongenetic Determinants of Variable Warfarin Dose Requirements: A Report from North India Public Health Genom. (IF 1.7) Pub Date : 2021-10-21 Navjot Kaur, Avaneesh Pandey, Nusrat Shafiq, Ankur Gupta, Reena Das, Harkant Singh, Jasmina Ahluwalia, Samir Malhotra
Introduction: Warfarin is widely used and will continue to be prescribed especially in developing countries due to its low cost. Given the huge patient load requiring anticoagulation, there is a need to develop strategies to optimize warfarin therapy for ensuring safe and effective anticoagulation. In the present work, we aimed at elucidating the association of genetic and nongenetic variables with
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Identification of Candidate Genes in Early-Stage Invasive Ductal Carcinoma Patients with High-Risk Mortality Using Genes Commonly Involved in Breast Cancer: A Retrospective Study Public Health Genom. (IF 1.7) Pub Date : 2021-10-11 Chih-Chiang Hung, Hsin-I. Huang, Chao-Ming Hung, Sin-Hua Moi
Introduction: Invasive ductal carcinoma (IDC) of the breast is a heterogeneous disease characterized by multiple subtypes. IDC survival is highly impacted by tumor burden, molecular subtypes, and gene profiles. Gene mutation is a type of genomic instability regarded as having a considerable effect on IDC prognosis. Using integrated survival analysis, this study identified candidate genes and a high-risk
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Altruism as an Explanation for Human Consanguinity Public Health Genom. (IF 1.7) Pub Date : 2021-09-23 Srdjan Denic, Mukesh M. Agarwal
Background: Human inbreeding is a sociobiological puzzle. Despite widespread knowledge of its potential for genetic disorders, human consanguinity remains surprisingly common. The current reasons explaining its continued persistence in today’s modern world have major shortcomings. Summary: We propose that the Neolithic Agrarian revolution modified the structure of populations. It increased competition
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People with Cerebral Palsy and Their Family’s Preferences about Genomics Research Public Health Genom. (IF 1.7) Pub Date : 2021-09-17 Yana Alexandra Wilson, Sarah McIntyre, Emma Waight, Marelle Thornton, Saskia van Otterloo, Sophie Rachel Marmont, Michael Kruer, Gareth Baynam, Jozef Gecz, Nadia Badawi
Introduction: The goal of this study was to understand individuals with cerebral palsy (CP) and their family’s attitudes and preferences to genomic research, including international data sharing and biobanking. Methods: Individuals with CP and their family members were invited to participate in the web-based survey via email (NSW/ACT CP Register) or via posts on social media by Cerebral Palsy Alliance
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Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening? Public Health Genom. (IF 1.7) Pub Date : 2021-09-09 Cassidy Brothers, Holly Etchegary, Fiona Curtis, Charlene Simmonds, Jim Houston, Terry-Lynn Young, Daryl Pullman, Hensley H. Mariathas, Sean Connors, Kathleen Hodgkinson
Purpose: We have identified 27 families in Newfoundland and Labrador (NL) with the founder variant TMEM43 p.S358L responsible for 1 form of arrhythmogenic right ventricular cardiomyopathy. Current screening guidelines rely solely on cascade genetic screening, which may result in unrecognized, high-risk carriers who would benefit from preemptive implantable cardioverter-defibrillator therapy. This pilot
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Evaluating Primary Care Providers’ Readiness for Delivering Genetic and Genomic Services to Underserved Populations Public Health Genom. (IF 1.7) Pub Date : 2021-09-07 Yashoda Sharma, Livia Cox, Lucie Kruger, Veena Channamsetty, Susanne B. Haga
Introduction: Increased genomics knowledge and access are advancing precision medicine and care delivery. With the translation of precision medicine across health care, genetics and genomics will play a greater role in primary care services. Health disparities and inadequate representation of racial and ethnically diverse groups threaten equitable access for those historically underserved. Health provider
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Mapping Users’ Experience of a Family History and Genetic Risk Algorithm Tool in Primary Care Public Health Genom. (IF 1.7) Pub Date : 2021-08-31 Špela Miroševič, Kaja Krajc, Zalika Klemenc-Ketiš, Polona Selič-Zupančič
Introduction: The development of a family history (FH) questionnaire (FHQ) provides an insight into a patient’s familiarity of a trait and helps to identify individuals at increased risk of disease. A critical aspect of developing a new tool is exploring users’ experience. Objective: The objective of this study was to examine users’ experience, obstacles and challenges, and their views and concerns
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“Integrating China in the International Consortium for Personalized Medicine”: The Coordination and Support Action to Foster Collaboration in Personalized Medicine Development between Europe and China Public Health Genom. (IF 1.7) Pub Date : 2021-08-13 Alisha Morsella, Chiara Cadeddu, Carolina Castagna, Ilda Hoxhaj, Michele Sassano, Chiuhui Mary Wang, Lili Wang, Svetlana Klessova, Antonio Giulio de Belvis, Stefania Boccia, Walter Ricciardi
“Integrating China in the International Consortium for Personalized Medicine” (IC2PerMed) is a coordination and support action funded within the Horizon 2020 work program. Following the guidance of the International Consortium for Personalized Medicine (ICPerMed), the project’s overarching aim is to align the European Union and China’s research agendas in the field of personalized medicine (PM) to