Article
Medicine, General & Internal
Elizabeth Jordan, Daniel D. Kinnamon, Garrie J. Haas, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W. H. Wilson Tang, Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy V. Pamboukian, Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz, Stephen Pan, Javier Jimenez, Daniel P. Fishbein, Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge, Charles K. Moore, Jonathan O. Mead, Natalie Hurst, Jinwen Cao, Gordon S. Huggins, Jason Cowan, Hanyu Ni, Heidi L. Rehm, Gail P. Jarvik, Matteo Vatta, Wylie Burke, Ray E. Hershberger
Summary: This study compares the rare variant genetic architecture of dilated cardiomyopathy (DCM) among patients with DCM who are of African ancestry compared with European ancestry. The study found that African patients with DCM were less likely to have clinically actionable variants in DCM genes than those of European ancestry due to differences in genetic architecture and a lack of representation of African ancestry in clinical data sets.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Article
Oncology
Pascal Belleau, Astrid Deschenes, Nyasha Chambwe, David A. Tuveson, Alexander Krasnitz
Summary: The study explores the feasibility and accuracy of inferring genetic ancestry from cancer-derived data. A data synthesis framework is developed to optimize and evaluate the performance of ancestry inference based on various molecular profiles. The results demonstrate the accuracy and robustness of the inference procedure, making it possible to determine the continental-level ancestry of cancer patients.
Editorial Material
Genetics & Heredity
Elizabeth G. Atkinson
Summary: A new study suggests that the correlation of causal genetic variants is largely similar across different ancestry backgrounds, as estimated using admixture.
Article
Psychiatry
Helene Choquet, Jie Yin, Eric Jorgenson
Summary: The study found significant associations between genetic ancestry and smoking behaviors in different race/ethnicity groups.
TRANSLATIONAL PSYCHIATRY
(2021)
Article
Gastroenterology & Hepatology
Alberto Queiroz Farias, Anna Curto Vilalta, Patricia Momoyo Zitelli, Gustavo Pereira, Luciana L. Goncalves, Aldo Torre, Juan Manuel Diaz, Adrian C. Gadano, Angelo Z. Mattos, Liliana S. C. Mendes, Mario R. Alvares-da-Silva, Paulo L. Bittencourt, Carlos Benitez, Claudia Alves Couto, Manuel Mendizabal, Claudio L. Toledo, Daniel F. C. Mazo, Mauricio Castillo Barradas, Eva M. Uson Raposo, P. Martin Padilla-Machaca, Adelina Zarela Lozano Miranda, Rene Male-Velazquez, Andre Castro Lyra, Milagros B. Davalos-Moscol, Jose L. Perez Hernandez, Rafael O. Ximenes, Giovanni Faria Silva, Oscar A. Beltran-Galvis, Maria S. Gonzalez Huezo, Fernando Bessone, Tarciso D. S. Rocha, Eduardo Fassio, Carlos Terra, Juan I. Marin, Patricia Sierra Casas, Carlos de la Pena-Ramirez, Ferran Aguilar Parera, Flavia Fernandes, Maria da Penha Zago-Gomes, Osvely Mendez-Guerrero, Sebastian Marciano, Angelo A. Mattos, Joao C. Oliveira, Gabriel T. S. Guerreiro, Liana Codes, Marco Arrese, Mateus J. Nardelli, Marcelo O. Silva, Renato Palma-Fernandez, Camila Alcantara, Cristina Sanchez Garrido, Jonel Trebicka, Thierry Gustot, Javier Fernandez, Joan Claria, Rajiv Jalan, Paolo Angeli, Vicente Arroyo, Richard Moreau, ACLARA Study Collaborators
Summary: This study investigated the association of genetic ancestry and race with acute-on chronic liver failure (ACLF). The results showed that Latin American patients with higher Native American genetic ancestry and Native American race were more likely to develop ACLF. This suggests that genetic ancestry and race may be associated with the risk of ACLF.
Article
Genetics & Heredity
Jennifer Hoskovec, Emily E. Hardisty, Asha N. Talati, Jacqueline A. Carozza, Julia Wynn, Shan Riku, John R. ten Bosch, Neeta L. Vora
Summary: The purpose of this study was to evaluate the clinical performance of carrier screening using reflex single-gene noninvasive prenatal screening (sgNIPS) for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy, which does not require paternal carrier screening. The results showed that sgNIPS provided accurate fetal risk assessment and could be used for prenatal counseling and pregnancy management. The study highlights the importance of carrier screening during pregnancy and the potential benefits of using sgNIPS.
GENETICS IN MEDICINE
(2023)
Article
Multidisciplinary Sciences
Hari S. Iyer, Scarlett Lin Gomez, Iona Cheng, Timothy R. Rebbeck
Summary: Self-identified race/ethnicity is associated with both genetic ancestry and socioeconomic factors, which may contribute to racial disparities in mortality. Higher African ancestry and lower neighborhood socioeconomic status are associated with higher mortality in African Americans.
Article
Genetics & Heredity
Keya Tong, Wenbin He, Yao He, Xiurong Li, Liang Hu, Hao Hu, Guangxiu Lu, Ge Lin, Chang Dong, Victor Wei Zhang, Juan Du, Dongyun Liu
Summary: Medical exome sequencing was used to identify carrier spectrum in the Chinese population, showing that 94.5% of individuals carried at least one disease-causing variant. This study highlights the importance of Expanded Carrier Screening in identifying at-risk couples.
FRONTIERS IN GENETICS
(2022)
Article
Nutrition & Dietetics
Susan E. McCann, Meredith A. J. Hullar, David L. Tritchler, Eduardo Cortes-Gomez, Song Yao, Warren Davis, Tracey O'Connor, Deborah Erwin, Lilian U. Thompson, Li Yan, Johanna W. Lampe
Summary: This study aimed to investigate the impact of ethnicity on the association between gut microbiota and lignan metabolism. Results showed significant differences in microbial community composition between AA and EA at baseline, which were attenuated after consuming flaxseed. Certain genera associated with ENL production were unique to each ethnic group.
Article
Medicine, General & Internal
C. Hsu, Wei Yang, Rishi V. Parikh, Amanda H. Anderson, Teresa K. Chen, Debbie L. Cohen, Jiang He, Madhumita J. Mohanty, James P. Lash, Katherine T. Mills, Anthony N. Muiru, Afshin Parsa, Milda R. Saunders, Tariq Shafi, Raymond R. Townsend, Sushrut S. Waikar, J. Wang, Myles Wolf, Thida C. Tan, Harold I. Feldman, Alan S. Go
Summary: The study found that using serum creatinine levels to estimate GFR without taking race (or genetic ancestry) into account led to systematic misclassification. Estimating GFR with cystatin C produced similar results while eliminating negative consequences of race-based approaches.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Genetics & Heredity
Leonardo Marino-Ramirez, Shivam Sharma, Lavanya Rishishwar, Andrew B. Conley, Shashwat Deepali Nagar, I. King Jordan
Summary: The inclusion of ethnicity in estimating glomerular filtration rate (eGFR) from creatinine levels has been challenged. Genetic ancestry is more strongly associated with creatinine levels than self-identified ethnicity, suggesting that ethnic differences in creatinine may be shaped by genetic factors rather than social factors.
Article
Genetics & Heredity
Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duygu
Summary: Whole-exome DNA sequencing is a valuable tool for specialists, patients, and their families to obtain clinically useful information and understand the genetic basis of monogenic and complex diseases. This study focused on investigating the frequency and allele frequency spectrum of recessive disease carrier status variants in Turkish Cypriot exomes. The findings provide important insights for preventive medicine practices and governmental actions.
Article
Genetics & Heredity
Philippe Pierre Robichaud, Eric P. Allain, Sarah Belbraouet, Claude Bherer, Jean Mamelona, Jason Harquail, Stephanie Crapoulet, Nicolas Crapoulet, Mathieu Belanger, Mouna Ben Amor
Summary: Acadians in South-East New Brunswick carry multiple disease-causing genetic variants, some of which are more frequent compared to reference populations. Results from this study suggest the need for further investigation of genomic variation in this population and potentially implementation of targeted carrier and neonatal screening programs.
BMC MEDICAL GENOMICS
(2022)
Review
Health Care Sciences & Services
Samantha Edwards, Nigel Laing
Summary: Reproductive genetic carrier screening provides information about the risk of genetic conditions, allowing individuals and couples to make informed reproductive decisions. As screening becomes more accessible and recommended for all women planning pregnancy, there is a need to address the genetic counseling needs of large-scale screening. A scoping review identified several themes, including when and how to offer screening, the importance of information and education, the providers and methods of genetic counseling, and the balance between standardized and individualized approaches.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Sociology
Amina Zarrugh, Luis Romero
Summary: This article analyzes over 400 videos uploaded by consumers of DNA ancestry testing kits to uncover the implications of these services on social understandings of race and ethnicity. It finds that consumers engage in genetic racialization, emphasizing the importance of science, biologizing race and ethnicity, and omitting histories of colonialism and conquest.
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)