Article
Psychology, Developmental
Robert J. Loughnan, Clare E. Palmer, Carolina Makowski, Wesley K. Thompson, Deanna M. Barch, Terry L. Jernigan, Anders M. Dale, Chun Chieh Fan
Summary: Many behaviors show shared genetic influences among youth, but emerging psychopathologies also exhibit specificity for individuals with high genetic risk.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2022)
Review
Psychiatry
Furkhan Ali, Vanteemar S. Sreeraj, Ravi Kumar Nadella, Bharath Holla, Jayant Mahadevan, Dhruva Ithal, Srinivas Balachander, Biju Viswanath, Ganesan Venkatasubramanian, John P. John, Y. C. Janardhan Reddy, Sanjeev Jain
Summary: This article discusses the importance of family history of psychiatric illnesses in research and clinical practice, and reviews various methods for quantifying these familial risks. Studies have shown that Family history density (FHD) measures may be preferred as indicators of familial risk.
ASIAN JOURNAL OF PSYCHIATRY
(2021)
Article
Endocrinology & Metabolism
Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocio Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixas, Mercedes Rigla
Summary: Genetic screening in a Mediterranean cohort of suspected familial hyperparathyroidism revealed a high prevalence of germline variants, leading to early diagnosis and treatment for patients and early intervention in their relatives. It is recommended to conduct genetic testing for patients with primary hyperparathyroidism who present high-risk features.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Rebecca Dimond, Shane Doheny, Lisa Ballard, Angus Clarke
Summary: This article explores the importance of family in the experience of genetic testing, arguing that understanding individuals' experiences of genetic diseases and their responses to genetic technologies requires considering the context in which they occur. By analyzing relevant literature and conducting interviews, the article finds that family plays a significant role in disclosure, gatekeeping, communication, and other aspects of individuals' genetic testing experiences. Lastly, the article examines the entanglement of family and genetics as a way to explain their complex connections.
SOCIAL SCIENCE & MEDICINE
(2022)
Article
Psychology, Clinical
Eleonore D. van Sprang, Dominique F. Maciejewski, Yuri Milaneschi, Bernet M. Elzinga, Aartjan T. F. Beekman, Catharina A. Hartman, Albert M. van Hemert, Brenda W. J. H. Penninx
Summary: This study found that using a continuous familial loading score (FLS) can better capture the risk for familial depression and anxiety compared to a dichotomous family history (FH) measure. Individuals with higher FLS had higher polygenic risk scores (PRS) for major depression, more severe symptoms, and greater psychosocial vulnerabilities. Additionally, after the influence of FH was removed from the FLS, the residualized FLS was still associated with the severity of symptoms of depression and anxiety, rumination, and childhood trauma.
PSYCHOLOGICAL MEDICINE
(2022)
Article
Oncology
Jennifer M. Weiss, Samir Gupta, Carol A. Burke, Lisen Axell, Lee-May Chen, Daniel C. Chung, Katherine M. Clayback, Susan Dallas, Seth Felder, Olumide Gbolahan, Francis M. Giardiello, William Grady, Michael J. Hall, Heather Hampel, Rachel Hodan, Gregory Idos, Priyanka Kanth, Bryson Katona, Laura Lamps, Xavier Llor, Patrick M. Lynch, Arnold J. Markowitz, Sara Pirzadeh-Miller, Niloy Jewel Samadder, David Shibata, Benjamin J. Swanson, Brittany M. Szymaniak, Georgia L. Wiesner, Andrew Wolf, Matthew B. Yurgelun, Mae Zakhour, Susan D. Darlow, Mary A. Dwyer, Mallory Campbell
Summary: Identification of individuals with hereditary syndromes allows for timely cancer surveillance and risk management. Establishing criteria for hereditary cancer risk assessment enables identification of carriers of pathogenic genetic variants.
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
(2021)
Article
Clinical Neurology
Weicong Lu, Kody G. Kennedy, Alysha Sultan, Lisa M. Fiksenbaum, Mikaela K. Dimick, Simina Toma, Benjamin Goldstein
Summary: There were relatively few differences in clinical and neurostructural correlates related to family history of BD in youth with BD. Current findings suggest that family history of BD is not a strong contributor to the clinical or neuroimaging phenotypes in youth with BD.
JOURNAL OF AFFECTIVE DISORDERS
(2021)
Article
Biotechnology & Applied Microbiology
Yixin Zhang, James B. Meigs, Ching-Ti Liu, Josee Dupuis, Chloe Sarnowski
Summary: Considering family history may enhance the accuracy and power of CC-GWAS in detecting disease-associated genetic variants. The methods incorporating family history showed higher power than CC-GWAS, especially in older age groups. These methods detected known genetic variants and increased their significance in real data applications, demonstrating the importance of including family history in genetic association studies.
Review
Biochemistry & Molecular Biology
Marta Futema, Alison Taylor-Beadling, Maggie Williams, Steve E. Humphries
Summary: The familial hypercholesterolemia (FH) phenotype can be caused by mutations in multiple genes, allowing for faster diagnosis using next-generation sequencing technology. In addition to monogenic causes, the majority of FH cases are likely polygenic, with significantly lower risk of future coronary heart disease in these patients.
JOURNAL OF LIPID RESEARCH
(2021)
Article
Oncology
Rachael Adcock, Belinda Nedjai, Attila T. Lorincz, Dorota Scibior-Bentkowska, Rawinder Banwait, Norah Torrez-Martinez, Michael Robertson, Jack Cuzick, Cosette M. Wheeler
Summary: Methylation of host and viral genes shows promise in stratifying women with high-risk human papillomavirus infections. The study compared the clinical value of the S5 methylation classifier, HPV genotyping, and cytology as potential triage tests, and found that the S5 classifier performed well in discriminating CIN3+.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Oncology
Nina M. Clark, Emma A. Roberts, Catherine Fedorenko, Qin Sun, Marianne Dubard-Gault, Cynthia Handford, Rachel Yung, Heather H. Cheng, Jonathan G. Sham, Barbara M. Norquist, Meghan R. Flanagan
Summary: This retrospective cohort study evaluated the frequency of genetic testing in patients with breast, ovarian, pancreatic, and prostate cancers, and found an increase in testing over time. While guideline-concordant testing was high for breast cancer, there were gaps in concordance among patients with other cancers. Increasing provider and patient education, genetic counseling, and insurance coverage for testing among these patients may improve guideline adherence.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Oncology
Nina M. Clark, Emma A. Roberts, Catherine Fedorenko, Qin Sun, Marianne Dubard-Gault, Cynthia Handford, Rachel Yung, Heather H. Cheng, Jonathan G. Sham, Barbara M. Norquist, Meghan R. Flanagan
Summary: The frequency of genetic testing for potentially hereditary breast, ovarian, pancreatic, and prostate cancers has increased over time. While guideline-concordant testing is high for breast cancer, there are inconsistencies among patients with other cancers. Improving provider and patient education, genetic counseling, and insurance coverage may improve adherence to guidelines.
ANNALS OF SURGICAL ONCOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
F. Girolami, V. Spinelli, S. Passantino, E. Bennati, G. B. Calabri, I. Olivotto, S. Favilli
Summary: Pediatric cardiomyopathies exhibit significant phenotypic and genetic heterogeneity, and genetic testing plays a key role in diagnosis and treatment.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Article
Genetics & Heredity
Peh Joo Ho, Elaine H. Lim, Mikael Hartman, Fuh Yong Wong, Jingmei Li
Summary: The benefit of using individual risk prediction tools for breast cancer screening is uncertain. This study assesses the overlap of predicted high-risk individuals and suggests that a combinatorial approach may be needed to improve risk-based screening.
GENETICS IN MEDICINE
(2023)
Article
Public, Environmental & Occupational Health
Brian L. Mishara, David N. Weisstub
Summary: Genetic research suggests a heritable component to suicide risk, but predicting individual behavior remains challenging. The potential use of genetic information to predict suicide raises practical and ethical issues, such as the lack of effective preventive interventions and increased psychosocial risks associated with unreliable positive results.
PREVENTIVE MEDICINE
(2021)
Article
Oncology
Michelle M. Fillion, Katherine E. Glass, Joe Hayek, Allison Wehr, Gary Phillips, Alicia Terando, Doreen M. Agnese
Article
Oncology
Sara A. Mansfield, Robert Pilarski, Doreen M. Agnese
Article
Genetics & Heredity
Kevin Sweet, Shelly Hovick, Amy C. Sturm, Tara Schmidlen, Erynn Gordon, Barbara Bernhardt, Lisa Wawak, Karen Wernke, Joseph McElroy, Laura Scheinfeldt, Amanda E. Toland, J. S. Roberts, Michael Christman
JOURNAL OF GENETIC COUNSELING
(2017)
Article
Oncology
Catherine M. Alfano, Juan Peng, Rebecca R. Andridge, Monica E. Lindgren, Stephen P. Povoski, Adele M. Lipari, Doreen M. Agnese, William B. Farrar, Lisa D. Yee, William E. Carson, Janice K. Kiecolt-Glaser
JOURNAL OF CLINICAL ONCOLOGY
(2017)
Article
Genetics & Heredity
Kevin Sweet, Amy C. Sturm, Tara Schmidlen, Joseph McElroy, Laura Scheinfeldt, Kandamurugu Manickam, Erynn S. Gordon, Shelly Hovick, J. Scott Roberts, Amanda Ewart Toland, Michael Christman
JOURNAL OF GENETIC COUNSELING
(2017)
Article
Surgery
James Kurtz, Georgia M. Beasley, Doreen Agnese, Kari Kendra, Thomas E. Olencki, Alicia Terando, J. Harrison Howard
JOURNAL OF SURGICAL RESEARCH
(2017)
Article
Medicine, General & Internal
M. B. Faries, J. F. Thompson, A. J. Cochran, R. H. Andtbacka, N. Mozzillo, J. S. Zager, T. Jahkola, T. L. Bowles, A. Testori, P. D. Beitsch, H. J. Hoekstra, M. Moncrieff, C. Ingvar, M. W. J. M. Wouters, M. S. Sabel, E. A. Levine, D. Agnese, M. Henderson, R. Dummer, C. R. Rossi, R. I. Neves, S. D. Trocha, F. Wright, D. R. Byrd, M. Matter, E. Hsueh, A. MacKenzie-Ross, D. B. Johnson, P. Terheyden, A. C. Berger, T. L. Huston, J. D. Wayne, B. M. Smithers, H. B. Neuman, S. Schneebaum, J. E. Gershenwald, C. E. Ariyan, D. C. Desai, L. Jacobs, K. M. McMasters, A. Gesierich, P. Hersey, S. D. Bines, J. M. Kane, R. J. Barth, G. McKinnon, J. M. Farma, E. Schultz, S. Vidal-Sicart, R. A. Hoefer, J. M. Lewis, R. Scheri, M. C. Kelley, O. E. Nieweg, R. D. Noyes, D. S. B. Hoon, H. -J. Wang, D. A. Elashoff, R. M. Elashoff
NEW ENGLAND JOURNAL OF MEDICINE
(2017)
Article
Oncology
Charles J. Puza, Srirama Josyula, Alicia M. Terando, John H. Howard, Doreen M. Agnese, Paul J. Mosca, Walter T. Lee, Georgia M. Beasley
JOURNAL OF SURGICAL ONCOLOGY
(2018)
Article
Oncology
Whitney Espinel, Marjan Champine, Heather Hampel, Joanne Jeter, Kevin Sweet, Robert Pilarski, Rachel Pearlman, Kate Shane, Pamela Brock, Judith A. Westman, Lindsay Kipnis, Jilliane Sotelo, Anu Chittenden, Samantha Culver, Jill E. Stopfer, Katherine A. Schneider, Rosalba Sacca, Diane R. Koeller, Shraddha Gaonkar, Erica Vaccari, Sarah Kane, Scott T. Michalski, Shan Yang, Sarah M. Nielsen, Sara L. Bristow, Stephen E. Lincoln, Robert L. Nussbaum, Edward D. Esplin
Summary: The study demonstrates that positive results from genetic testing for DDR genes beyond BRCA1 and BRCA2 can have clinical utility, impacting patient's clinical management and facilitating identification of at-risk carriers and treatment decisions.
Article
Health Care Sciences & Services
Amy C. Sturm, Tara Schmidlen, Laura Scheinfeldt, Shelly Hovick, Joseph P. McElroy, Amanda E. Toland, J. Scott Roberts, Kevin Sweet
JOURNAL OF PERSONALIZED MEDICINE
(2018)
Review
Pathology
Eugene T. Shin, Amy S. Joehlin-Price, Doreen M. Agnese, Debra L. Zynger
AMERICAN JOURNAL OF CLINICAL PATHOLOGY
(2017)
Article
Oncology
Maris S. Jones, Peter C. Jones, Stacey L. Stern, David Elashoff, Dave S. B. Hoon, John Thompson, Nicola Mozzillo, Omgo E. Nieweg, Dirk Noyes, Harald J. Hoekstra, Jonathan S. Zager, Daniel F. Roses, Alessandro Testori, Brendon J. Coventry, Mark B. Smithers, Robert Andtbacka, Doreen Agnese, Erwin Schultz, Eddy C. Hsueh, Mark Kelley, Schlomo Schneebaum, Lisa Jacobs, Tawnya Bowles, Mohammed Kashani-Sabet, Douglas Johnson, Mark B. Faries
ANNALS OF SURGICAL ONCOLOGY
(2017)
Article
Oncology
Sara A. Mansfield, Mahmoud Abdel-Rasoul, Alicia M. Terando, Doreen M. Agnese
Article
Biochemical Research Methods
Nicholas Latchana, Zachary B. Abrams, J. Harrison Howard, Kelly Regan, Naduparambil Jacob, Paolo Fadda, Alicia Terando, Joseph Markowitz, Doreen Agnese, Philip Payne, William E. Carson
BIOINFORMATICS AND BIOLOGY INSIGHTS
(2017)
Meeting Abstract
Oncology
G. Beasley, J. Kurtz, J. H. Howard, A. Terando, D. Agnese, L. David, T. Olencki
ANNALS OF SURGICAL ONCOLOGY
(2017)
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)
