Editorial Material
Multidisciplinary Sciences
Anthony J. Hannan
Summary: The study found a link between tandem repeats in DNA and autism spectrum disorder, which could provide insights into other human disorders. Bioinformatic analysis was used to study tandem repeat mutations in autism.
Article
Multidisciplinary Sciences
Joseph Ochieng, Betty Kwagala, John Barugahare, Erisa Mwaka, Deborah Ekusai-Sebatta, Joseph Ali, Nelson K. Sewankambo
Summary: This study explores researchers' perspectives and experiences regarding feedback of incidental genomics findings to participants in genetics and genomics research. The study finds that researchers generally find it acceptable to share incidental research findings with participants, but face challenges such as lack of ethical guidelines and uncertainty about the findings.
Editorial Material
Multidisciplinary Sciences
Karen H. Miga
Summary: Since the publication of the human genome in 2001, advancements in sequencing technology have filled in many of the gaps in the original sequence, leading to a deeper knowledge of genome regulation, structure, and function.
Editorial Material
Multidisciplinary Sciences
Ludovic Orlando
Summary: An extensive genomic time series has been conducted on 356 humans from ice-age Europe, showing the impact of climate change on the migration patterns and cultural development of hunter-gatherer populations.
Review
Psychology, Clinical
Laura Domenech, Carolina Cappi, Matt Halvorsen
Summary: Tourette syndrome is a severe neuropsychiatric disorder with a prevalence of 1% in children, and genetic factors play an important role in the overall risk architecture.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Genetics & Heredity
Emma Reble, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Sam Khalouei, Marc Clausen, Rita Kodida, Salma Shickh, Chloe Mighton, Iris Cohn, Kasmintan A. Schrader, Raymond H. Kim, Jordan Lerner-Ellis, Yvonne Bombard
Summary: Advances in genomic sequencing have increased the potential to identify secondary findings (SFs), with guidelines recommending the analysis of 59 medically actionable genes. However, patient preferences show interest in a broader range of SFs. The study developed an efficient analytical pipeline that significantly decreased variant numbers, leading to time and cost savings.
News Item
Multidisciplinary Sciences
Nicky Phillips
Summary: Kathleen Folbigg, considered Australia's worst female serial killer after the deaths of her four young children, may have her conviction overturned with new genetic evidence.
Review
Biotechnology & Applied Microbiology
Ian J. Mackay, James Cockram, Phil Howell, Wayne Powell
Summary: Transgressive segregation and heterosis are key to successful plant breeding, with integration of molecular biology advancements with sources of heritable trait variation within a quantitative genetics framework being crucial. Genomic selection, revolutionizing animal breeding, is now being applied to both hybrid and inbred crops and is expected to drive major improvements in plant breeding. Enhanced understanding between molecular and quantitative disciplines holds potential for further advancements in plant breeding methodologies, supporting future food security.
PLANT BIOTECHNOLOGY JOURNAL
(2021)
Editorial Material
Multidisciplinary Sciences
Conrad O. Iyegbe, Paul F. O'Reilly
Summary: Rare and common genetic variants associated with schizophrenia provide convergent clues about the underlying biology of this complex disorder.
Editorial Material
Multidisciplinary Sciences
Charles N. Rotimi, Adebowale A. Adeyemo
Summary: Over the past 20 years, the increasing diversity in genomic sequencing has provided valuable insights into our evolutionary history and health status.
Article
Endocrinology & Metabolism
Jing Zhang, Minghao Li, Yingxian Pang, Cikui Wang, Jingjing Wu, Ziyun Cheng, Xiaomu Li, Zhiqiang Lu, Yujun Liu, Jianming Guo, Xiang Chen, Yao He, Xiao Guan, Xiaowen Xu, Yong Wang, Jiahao Liu, Wei Guo, Yingyong Hou, Longfei Liu, Jingjing Jiang, Xin Gao
Summary: More than half of patients with incidental PPGLs had mutations in common susceptibility genes. The search for susceptibility genes should take both the mode of discovery and tumor location into consideration.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Editorial Material
Multidisciplinary Sciences
Eric J. B. von Wettberg, Azalea Guerra-Garcia
Summary: A high-quality reference genome has been generated for the broad bean (also known as the faba or fava bean), which could be used to identify ways to increase yield, improve pest resistance, and more.
Review
Cell Biology
Larry N. Singh, Shih-Han Kao, Douglas C. Wallace
Summary: Neurodegenerative disorders triggered by injury have variable outcomes due to complex cascade of events, with genetics playing a key role in disease progression. Mitochondrial DNA genetics play a significant role in traditional neurodegenerative diseases, but less is known about its impact on injury-related disorders. Further research into mitochondrial DNA's influence on neurodegenerative diseases resulting from injury may provide insights into genetic factors and potential treatment targets.
Editorial Material
Multidisciplinary Sciences
Samira Asgari, Lionel A. Pousaz
Summary: An individual's genetics play a role in their susceptibility to infectious diseases and the severity of symptoms. A recent international study has identified specific regions of the human genome that can impact the risk of severe COVID-19.
Review
Biochemistry & Molecular Biology
Bianyun Yu, Daoquan Xiang, Humaira Mahfuz, Nii Patterson, Dengjin Bing
Summary: Starch is a major component in pea seeds, but its utilization is currently limited to low-value markets. The increasing demand for pea protein poses a challenge for the pea fractionation industry to find new markets for starch valorization. There are gaps in our understanding of the genetic mechanism underlying starch metabolism, its relationship with physicochemical properties, and how it can be tailored for innovative applications.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Editorial Material
Ethics
Jennifer L. Young, Mildred K. Cho
AMERICAN JOURNAL OF BIOETHICS
(2021)
Article
Genetics & Heredity
Kyle B. Brothers, Robin L. Bennett, Mildred K. Cho
Summary: The field of human genetics has a complex history with racist ideologies, with systemic racism still ingrained in its institutions. Efforts are needed to address racism in scientific publishing in genetics and genomics, including training editors and reviewers on antiracist principles and implementing policies to address unique needs of the field. Beyond mere policies, resources like rubrics can help evaluate submissions in adherence to these guidelines.
GENETICS IN MEDICINE
(2021)
Article
Health Policy & Services
Van My Ta Park, Cate Jongkyung Park, Charles Kim, Nhi Cristina Y. Nguyen, Anh T. Tran, Anna Chiang, Si-inn J. Rho, R. Henry Olaisen, Quyen Vuong, Lisa G. Rosas, Mildred K. Cho
Summary: Precision mental health has the potential to revolutionize care and reduce the burden of mental illness, with Asian Americans, the fastest growing racial group in the U.S., needing to be engaged in research. Korean dramas may serve as an effective educational tool, as demonstrated in a qualitative study where participants expressed positive reactions and increased knowledge about precision mental health. The pilot test indicated that K-dramas could be used as a scalable health educational tool for raising awareness about specific health topics among Asian Americans.
HEALTH PROMOTION INTERNATIONAL
(2021)
Review
Genetics & Heredity
Jennifer L. Young, Julie Mak, Talia Stanley, Michelle Bass, Mildred K. Cho, Holly K. Tabor
Summary: This study identified multiple barriers to genetic counseling, testing, and care for Asian Americans, highlighting the need for more personalized clinical genetic approaches to meet their needs, as well as filling gaps in the research literature.
GENETICS IN MEDICINE
(2021)
Article
Health Care Sciences & Services
Ariadne A. Nichol, Jason N. Batten, Meghan C. Halley, Julia K. Axelrod, Pamela L. Sankar, Mildred K. Cho
Summary: This study aims to characterize MLPA healthcare products by identifying five prediction categories and describing the market landscape. The findings provide a foundation for analyzing specific ethical and regulatory challenges in using MLPA to improve healthcare efficiency.
JOURNAL OF MEDICAL INTERNET RESEARCH
(2021)
Editorial Material
Ethics
Nicole Martinez-Martin, Mildred K. Cho
AMERICAN JOURNAL OF BIOETHICS
(2022)
Review
Genetics & Heredity
Heather A. Dron, Daiana Bucio, Jennifer L. Young, Holly K. Tabor, Mildred K. Cho
Summary: This review examined research literature on Latinx experiences with genetic counseling and testing. It found that Latinx patients faced significant barriers to accessing genetic services, including costs, referrals, and communication. Providers' implicit biases negatively impacted their care and communication. Despite low awareness of cancer genetic testing, Latinx patients often expressed interest in learning more about genetic counseling and testing or unmet needs for testing discussion and provider involvement.
JOURNAL OF GENETIC COUNSELING
(2023)
Editorial Material
Multidisciplinary Sciences
Maya Sabatello, Daphne O. Martschenko, Mildred K. Cho, Kyle B. Brothers
Article
Genetics & Heredity
Vasiliki Rahimzadeh, Ge Peng, Mildred Cho
Summary: This article presents a mixed-methods protocol for developing and testing the implementation of a stewardship maturity matrix (SMM) for repositories that manage access to human genomic data in the cloud. The protocol combines Delphi survey methods with SMM modeling to develop an impact assessment tool for data stewardship. The article discusses the strengths and limitations of the mixed-methods design and offers considerations for handling quantitative and qualitative data.
FRONTIERS IN GENETICS
(2022)
Article
Ethics
Mildred K. Cho, Nicole Martinez-Martin
Summary: Big data and Al enable digital simulation for predicting future health states or behaviors. These digital simulacra use multimodal datasets to generate virtual representations of individuals or groups, predicting the evolution and interventions of systems over time. While it speeds up innovation and bridges the gap between research findings and individual applications, it may also lead to the abandonment of causality and representation concepts in medical epistemology, shifting the focus from actual patients to simulated patients and patient data.
AMERICAN JOURNAL OF BIOETHICS
(2022)
Editorial Material
Biochemistry & Molecular Biology
Jenny Reardon, Sandra Soo-Jin Lee, Sara Goering, Stephanie M. Fullerton, Mildred K. Cho, Aaron Panofsky, Evelynn M. Hammonds
Summary: Trustworthy science requires attention to ethics, equity, and inclusion. The Leadership in the Equitable and Ethical Design (LEED) of Science, Technology, Mathematics, and Medicine (STEM) initiative aims to establish best practices for integrating ethical expertise and promoting equitable collaboration.
Article
Genetics & Heredity
Mildred K. Cho, Maria Laura Duque Lasio, Ina Amarillo, Kevin Todd Mintz, Robin L. Bennett, Kyle B. Brothers
Summary: Efforts to promote diversity, equity, and inclusion in academia have prompted publishers and journals to reevaluate their use of terminology in scientific research. This is particularly important in the field of human genetics, where differences between individuals and populations are studied. Recent guidelines acknowledge the potential inaccuracy and harm of certain language and concepts related to disability, sex, gender, race, ethnicity, and ancestry. This article summarizes critiques of current terminology and provides recommendations for alternative language to make genetics more inclusive and ethically sound.
GENETICS IN MEDICINE
(2023)
Editorial Material
Medical Informatics
Simone Arvisais-Anhalt, Akshay Ravi, Benjamin Weia, Jos Aarts, Hasan B. Ahmad, Ellen Araj, Julie A. Bauml, Marge Benham-Hutchins, Andrew D. Boyd, Aimee Brecht-Doscher, Kerryn Butler-Henderson, Atul J. Butte, Anthony B. Cardilo, Nymisha Chilukuri, Mildred K. Cho, Jenny K. Cohen, Catherine K. Craven, Salvatore Crusco, Farah Dadabhoy, Dev Dash, Claire DeBolt, Peter L. Elkin, Oluseyi A. Fayanju, Laura J. Fochtmann, Justin V. Graham, John J. Hanna, William Hersh, Mackenzie R. Hofford, Jonathan D. Hron, Sean S. Huang, Brian R. Jackson, Bonnie Kaplan, William Kelly, Kyungmin Ko, Ross Koppel, Nikhil Kurapati, Gabriel Labbad, Julie J. Lee, Christoph U. Lehmann, Stefano Leitner, Zachary C. Liao, Richard J. Medford, Edward R. Melnick, Anoop N. Muniyappa, Sara G. Murray, Aaron Barak Neinstein, Victoria Nichols-Johnson, Laurie Lovett Novak, William Scott Ogan, Larry Ozeran, Natalie M. Pageler, Deepti Pandita, Ajay Perumbeti, Carolyn Petersen, Logan Pierce, Raghuveer Puttagunta, Priya Ramaswamy, Kendall M. Rogers, S. Trent Rosenbloom, Angela Ryan, Sameh Saleh, Chethan Sarabu, Richard Schreiber, Kate A. Shaw, Ida Sim, S. Joseph Sirintrapun, Anthony Solomonides, Jacob D. Spector, Justin B. Starren, Michelle Stoffel, Vignesh Subbian, Karl Swanson, Adrian Tomes, Karen Trang, Kim M. Unertl, Jenny L. Weon, Mary A. Whooley, Kevin Wiley, Drew F. K. Williamson, Peter Winkelstein, Jenson Wong, James Xie, Julia K. W. Yarahuan, Nathan Yung, Chloe Zera, Neda Ratanawongsa, Shobha Sadasivaiah
APPLIED CLINICAL INFORMATICS
(2023)
Article
Genetics & Heredity
Hannah A. Wand, Daphne O. K. Martschenko, Annamaria A. Smitherman, Sheryl Michelson, Ting Pun, John S. Witte, Stuart A. Scott, Mildred K. Cho, Euan A. Ashley
Summary: As genomic technologies advance, the use of polygenic scores (PGS) in public health and clinical services is growing, leading to potential benefits and harms. Integrating PGS into healthcare systems requires engagement with local communities, patients, and families to address uncertainty and make informed decisions. This paper presents a community-driven co-design process for implementing PGS into clinical services, providing a framework for inclusive and respectful program design.
JOURNAL OF COMMUNITY GENETICS
(2023)
Article
Public, Environmental & Occupational Health
Wylie Burke, Julie A. Beans, Mildred K. Cho, Nanibaa A. Garrison, Vanessa Hiratsuka, Scarlett Hopkins, Paul G. Spicer, Krystal S. Tsosie, Erica L. Woodahl, Joseph M. Yracheta, Kenneth Thummel
Summary: The lack of diversity and Indigenous representation in genetic datasets can be addressed through research models based on equitable partnerships. This article reports on a meeting of Indigenous community-university partnerships in precision medicine research, where the participants prioritized developing trust, respecting Indigenous community authority, and conducting research for the benefit of the community. Other important factors identified include incorporating Indigenous expertise, transparent communication, and building community capacity for involvement in research.
PROGRESS IN COMMUNITY HEALTH PARTNERSHIPS-RESEARCH EDUCATION AND ACTION
(2022)