Article
Gastroenterology & Hepatology
Mathias Brugel, Thibault Marulier, Camille Evrard, Claire Carlier, David Tougeron, Guillaume Piessen, Stephanie Truant, Anthony Turpin, Nicolas Williet, Damien Botsen, Mathilde Brasseur, Marine Perrier, Olivier Bouche
Summary: This study investigated the genetic counselling referral practices for pancreatic adenocarcinoma (PA) in France and assessed the implementation of international guidelines. The results showed inadequate referral for genetic counselling, with a significant portion of patients not receiving the recommended counselling despite indications. The study also identified factors influencing the referral, including suspected CDKN2A or BRCA mutations, familial pancreatic cancer history, and controlled disease with first-line platinum-based chemotherapy, while older age and locally advanced PA decreased the likelihood of referral.
Article
Genetics & Heredity
Mikey B. Lebrett, Emma J. Crosbie, Miriam J. Smith, Emma R. Woodward, D. Gareth Evans, Philip A. J. Crosbie
Summary: Lung cancer is the most common cancer globally, with genetic factors, screening efficacy, and genetic risk factors playing important roles in the occurrence, prediction, and improvement of screening accuracy for LC.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Juan Du, Xin Wang, Guiqin Tan, Wenwen Wei, Fangyu Zhou, Zhongzhi Liang, Hua Li, Hongsong Yu
Summary: This study revealed the association between IL2RA/rs2104286 locus and the susceptibility to Graves' disease and Graves' ophthalmopathy, potentially affecting the occurrence of these diseases by influencing IL2RA gene mRNA expression and cytokine production. Other loci polymorphisms such as IL2RA (rs3118470, rs7093069), miR27a/rs895819, miR182/rs76481776, and FoxO1 (rs2297626, rs17592236, rs9549241, rs12585277) were not found to be associated with GD susceptibility.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2021)
Review
Cardiac & Cardiovascular Systems
Amy R. Kontorovich
Summary: Patients and families benefit from a multidisciplinary approach, including genetic counseling and genetic testing, to identify the genetic causes of cardiomyopathy. Genetic testing is most effective when performed on individuals with clear symptoms and targets specific genes associated with the specific form of cardiomyopathy. Variants of uncertain significance are common and should be interpreted with caution. Identifying impactful genetic variants can have important prognostic implications and aid in testing at-risk relatives. Personalized treatment approaches may be necessary based on specific genotypes and associated risk factors.
JACC-HEART FAILURE
(2023)
Article
Biochemistry & Molecular Biology
Leonid O. Bryzgalov, Elena E. Korbolina, Tatiana I. Merkulova
Summary: Alzheimer's disease is a common type of dementia with a significant genetic component. This study aims to identify non-coding regulatory SNPs that affect the epigenetic mechanisms in AD using a multi-omics approach. By integrating AD patient and control data, rSNPs with allele-specific features in histone modification and gene expression profiles were identified. Evaluation: 8 points
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Wei Liu, Hong Yang, Linshuoshuo Lv, Jie Song, Yuqing Jiang, Xiaohui Sun, Ding Ye, Yingying Mao
Summary: This study examines the potential causal relationship between smoking and frailty in aging using the Mendelian randomization approach. The results show that genetic predisposition to smoking is associated with an increased risk of frailty in aging. Starting smoking at a later age and smoking more cigarettes per day are both associated with higher frailty risk. Additionally, current smokers have a higher risk of frailty compared to former smokers.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Alexandre Perani, Sylvie Bourthoumieu, David Rizzo, Jasmine Chauzeix, Benjamin Dauriat, Pascal Turlure, Stephane Girault, Lea Veyrune, Maxime Roubinet, Jean Feuillard, Catherine Yardin, Nathalie Gachard
Summary: High-throughput sequencing is commonly used for diagnosis and prognosis, but it may identify potential germline variants that need to be confirmed on non-infiltrated tissues. Saliva is applicable for relatives, but only for 24% of patients. Collecting saliva during remission and using hair follicles as an alternative to skin biopsy are recommended.
FRONTIERS IN ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Rosa M. M. Pascale, Diego F. F. Calvisi, Francesco Feo, Maria M. M. Simile
Summary: Liver lesions of F344 and BN rats, which represent a model for studying genetic predisposition to HCC and therapy response, cluster with human HCCB and HCCP, respectively. The proteolysis of DUSP1 and the activation of ERK, CKS1, and SKP2 play important roles in HCC progression. GNMT regulates SAM-methyl-transferase reactions and binds to gene promoters involved in HCC. MYBL2 upregulation promotes liver malignancy. Comparative genetics studies reveal clustering patterns of DNs and HCCs in rats and humans.
Article
Medical Laboratory Technology
Nathan H. Johnson, Nadine A. Kerr, Juan P. de Rivero Vaccari, Helen M. Bramlett, Robert W. Keane, W. Dalton Dietrich
Summary: Traumatic Brain Injury (TBI) is a major cause of death and disability in the US and a recognized risk factor for the development of Alzheimer's disease (AD). This study found that the infiammasome response is heightened in mice genetically predisposed to AD, suggesting that AD may exacerbate TBI pathology and impair cognitive function. Inhibiting infiammasome signaling could be a novel approach for the treatment of AD and TBI.
TRANSLATIONAL RESEARCH
(2023)
Review
Cell Biology
Elena Masselli, Giulia Pozzi, Cecilia Carubbi, Marco Vitale
Summary: Myeloproliferative neoplasms are hematologic malignancies with a significant heritable component that can be affected by germline variants. Host genetic factors play a role in determining the phenotypic presentation, outcome, and response to therapy of MPNs. Understanding the genetic determinants of clonal hematopoiesis can provide insights into the development of hematologic neoplasms.
Review
Immunology
Santiago Rodriguez de Cordoba
Summary: The implementation of next-generation sequencing technologies has revealed the association between genetic variability in the components and regulators of the alternative pathway (AP) of the complement system and various diseases. Genetic variants in the AP affect specific aspects of its activation and regulation, providing valuable insights into pathogenic mechanisms and potential diagnostic and therapeutic implications. However, limited data exists on complement expressed quantitative trait loci, and further research is needed to identify and understand their impact on the overall activity of the AP.
IMMUNOLOGICAL REVIEWS
(2023)
Article
Cell Biology
Yury Loika, Elena Loiko, Fan Feng, Eric Stallard, Anatoliy I. Yashin, Konstantin Arbeev, Allison L. Kuipers, Mary F. Feitosa, Michael A. Province, Alexander M. Kulminski
Summary: Associations between MLXIPL lipid gene SNPs and Alzheimer's and coronary heart disease were examined in two samples. The results suggest that these associations can be regulated by biological mechanisms and shaped by exogenous exposures. Two patterns of associations were identified, with rs17145750 and rs6967028 showing primary associations with TG and HDL-C, respectively. There were differences in association between the US and UKB samples, and the study suggests protective effects of high TG levels against AD and different roles of triglyceride mediated mechanisms in the pathogenesis of AD and CHD.
Article
Endocrinology & Metabolism
Pan Zhuang, Xiaohui Liu, Yin Li, Haoyu Li, Lange Zhang, Xuzhi Wan, Yuqi Wu, Yu Zhang, Jingjing Jiao
Summary: Plasma concentrations of saturated fatty acids and monounsaturated fatty acids were associated with a higher risk of T2D, while polyunsaturated fatty acids, n-6 and n-3 PUFA were related to a lower risk. Circulating MUFA and n-3 PUFA had significant interactions with genetic predisposition to T2D and FA-associated variants.
Article
Medicine, General & Internal
Wenwen Chen, Yu Zeng, Chen Suo, Huazhen Yang, Yilong Chen, Can Hou, Yao Hu, Zhiye Ying, Yajing Sun, Yuanyuan Qu, Donghao Lu, Fang Fang, Unnur A. Valdimarsdottir, Huan Song
Summary: This study found a potential role of genetic factors in the association between psychiatric disorders and COVID-19, suggesting a need for increased medical surveillance for this vulnerable population.
Article
Genetics & Heredity
Kang Shao, Ruixia Wang, Shoufang Qu, Wenxin Zhang, Ting Yu, Boyang Cao, Pingping Dai, Anna Zhu, Jianguang Zhang, Juan Wang, Lusheng Wang, Shida Zhu, Kui Wu, Xuexi Yang, Xiaoyan Chang, Fang Chen, Jie Huang
Summary: This study evaluated the performance of a BRCA1/2 interpretation system among laboratories in China, with 63% meeting the qualified standard. The evaluation system proved to have a significant impact on interpretation quality and accuracy, providing a potential approach for standardization of variant interpretation.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Pediatrics
Juliann M. Savatt, Jennifer K. Wagner, Steven Joffe, Alanna Kulchak Rahm, Marc S. Williams, Angela R. Bradbury, F. Daniel Davis, Julie Hergenrather, Yirui Hu, Melissa A. Kelly, H. Lester Kirchner, Michelle N. Meyer, Jessica Mozersky, Sean M. O'Dell, Josie Pervola, Andrea Seeley, Amy C. Sturm, Adam H. Buchanan
Article
Nursing
Matthew J. Peterson, Theo Woerhle, Melissa Harry, Anna Mae C. Heger, Mary Gerchman-Smith, Linda Vogel, Carolyn Hughes, Catherine McCarty
Summary: This quality improvement initiative aimed to assess the satisfaction of family members of patients in a neuro trauma ICU. Results showed that the majority of family members were satisfied with the care provided, but there were areas for improvement, particularly in noise reduction. The survey findings have been shared with leadership and considered in the planning of a new hospital building.
NURSING IN CRITICAL CARE
(2022)
Article
Neurosciences
Catherine A. McCarty, Colleen M. Renier, Theo A. Woehrle, Linda E. Vogel, Steven D. Eyer
Summary: This study aimed to describe the epidemiology of traumatic brain injury (TBI) and quantify the differences between rural and urban areas. The study found that the risk of TBI admission among rural residents was significantly higher than that of urban residents, emphasizing the need for public health and medical interventions to reduce this disparity.
Article
Health Care Sciences & Services
Jing Hao, Dina Hassen, James M. Gudgeon, Susan R. Snyder, Heather Hampel, Marc S. Williams, Ravi N. Sharaf, Christine Y. Lu, Janet L. Williams, Victoria Schlieder, Alanna Kulchak Rahm
Summary: An updated economic evaluation compared eight different Lynch syndrome screening protocols for newly diagnosed colorectal cancer patients. The study found that the DGS and TSGS protocols performed best in identifying LS cases, while the IHC protocol was the most efficient in terms of cost per LS case identified.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Editorial Material
Ophthalmology
Catherine A. McCarty, Hugh R. Taylor
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2022)
Article
Behavioral Sciences
Sean M. O'Dell, Matthew J. Gormley, Victoria Schlieder, Tracey Klinger, Kathy DeHart, Paul W. Kettlewell, Alanna Kulchak Rahm
Summary: Despite effective treatments and guidelines, youth with ADHD receive suboptimal care. More research is needed to address care gaps, especially in rural health systems. A qualitative study and PCC trainings were conducted to identify determinants of current practices and suggest quality improvement initiatives.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
(2022)
Article
Health Care Sciences & Services
Laney K. Jones, Marc S. Williams, Ilene G. Ladd, Dylan Cawley, Shuping Ge, Jing Hao, Dina Hassen, Yirui Hu, H. Lester Kirchner, Maria Kobylinski, Michael G. Lesko, Matthew C. Nelson, Alanna K. Rahm, David D. Rolston, Katrina M. Romagnoli, Tyler J. Schubert, Timothy C. Shuey, Amy C. Sturm, Samuel S. Gidding
Summary: The CARE-FH study aims to improve diagnostic evaluation rates for Familial Hypercholesterolemia (FH) through a collaborative approach. By using implementation science, the study transitions the initial evaluation for FH into primary care, in an attempt to identify individuals before the onset of atherosclerotic cardiovascular disease events.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Health Care Sciences & Services
Anna Baker, Kasia Tolwinski, Jamie Atondo, F. Daniel Davis, Jessica Goehringer, Laney K. Jones, Cassandra J. Pisieczko, Amy C. Sturm, Janet L. Williams, Marc S. Williams, Alanna Kulchak Rahm, Adam H. Buchanan
Summary: Understanding individuals' experiences receiving genetic results is crucial for clinical utility and population health improvement. Through qualitative interviews, this study explored the response of individuals who received clinically actionable genetic results. The findings revealed that participants were satisfied with the disclosure process, initially had a range of psychological reactions to the results, and took actions and communicated the results with close relatives.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Health Care Sciences & Services
Josiah D. Allen, Lusi Zhang, Alyssa N. K. Johnson, Pamala A. Jacobson, Catherine A. McCarty, Amy L. Pittenger, Jeffrey R. Bishop
Summary: This study developed and validated the Minnesota Assessment of Pharmacogenomic Literacy (MAPL) to assess patients' understanding of PGx test results. The MAPL consists of 15 items that cover knowledge in four domains: underlying concepts, limitations, benefits, and privacy. The results showed good internal reliability and validity, making MAPL a useful tool for assessing PGx literacy in clinical and research settings.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Health Care Sciences & Services
Lusi Zhang, Pamala A. Jacobson, Alyssa N. K. Johnson, David B. Gregornik, Steven G. Johnson, Catherine A. McCarty, Jeffrey R. Bishop
Summary: In a survey conducted in Minnesota, the majority of residents expressed their support for receiving PGx testing and participating in PGx data sharing, especially among younger individuals with higher education, health literacy, health insurance, and prior genetic testing. Community support and engagement are crucial for advancing PGx implementation and research.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Letter
Ophthalmology
Catherine A. McCarty, Hugh Taylor
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2023)
Article
Multidisciplinary Sciences
Emily C. Marlow, Jonathan M. Ducore, Marilyn L. Kwan, Erin J. A. Bowles, Robert T. Greenlee, Jason D. Pole, Alanna K. Rahm, Natasha K. Stout, Sheila Weinmann, Rebecca Smith-Bindman, Diana L. Miglioretti
Summary: Children with Down syndrome undergo medical imaging and radiation exposure more frequently than other children, especially at a young age when they are more vulnerable to radiation.
Article
Public, Environmental & Occupational Health
Rebecca L. Emery Tavernier, Marcia B. Mccoy, Catherine A. Mccarty, Susan M. Mason
Summary: This study examines the differences in prepregnancy weight status and gestational weight gain between rural and urban birthing people. The findings indicate that rural birthing people have a higher risk of prepregnancy overweight or obesity and excessive gestational weight gain compared to urban birthing people. These disparities between rural and urban individuals in terms of weight-related health outcomes widen over time.
WOMENS HEALTH ISSUES
(2023)
Article
Genetics & Heredity
Katrina M. Romagnoli, Alanna Rahm, Mary Cabell Jonas, Rachel Schwiter, Tracey Klinger, Ilene Ladd, Zachary Salvati, Anna DiNucci, Paula Blasi, Leigh Sheridan, Aaron Scrol, Nora Henrikson
Summary: A traceback genetic testing program for ovarian cancer aims to identify hereditary breast and ovarian cancer in individuals and their relatives. A study was conducted to understand the preferences and barriers experienced by participants with ovarian, fallopian tube, or peritoneal cancer and those with a family history of ovarian cancer. The findings revealed that participants prefer discussing genetic testing with a knowledgeable clinician and directed communication for receiving an invitation to participate in genetic testing. The study's results are guiding the implementation of traceback cascade genetic testing programs.
PUBLIC HEALTH GENOMICS
(2023)
Review
Health Care Sciences & Services
Alanna Kulchak Rahm, Nephi A. Walton, Lynn K. Feldman, Conner Jenkins, Troy Jenkins, Thomas N. Person, Joeseph Peterson, Jonathon C. Reynolds, Peter N. Robinson, Makenzie A. Woltz, Marc S. Williams, Michael M. Segal
Summary: This study provides preliminary evidence for the usability, workflow fit, acceptability, and implementation potential of a modified DDSS that includes machine-assisted chart review. Continued development and testing using principles from human-centered design and implementation science are necessary to improve technical functionality and acceptability for multiple stakeholders and organizational implementation potential to improve the genomic diagnosis process.
BMJ HEALTH & CARE INFORMATICS
(2021)