Article
Genetics & Heredity
Abimbola Oladayo, Lord Jephthah Joojo Gowans, Waheed Awotoye, Azeez Alade, Tamara Busch, Thirona Naicker, Mekonen A. Eshete, Wasiu L. Adeyemo, Jacqueline B. Hetmanski, Erliang Zeng, Olawale Adamson, Chinyere Adeleke, Mary Li, Veronica Sule, Sami Kayali, Joy Olotu, Peter A. Mossey, Solomon Obiri-Yeboah, Carmen J. Buxo, Terri Beaty, Margaret Taub, Peter Donkor, Mary L. Marazita, Oluwakemi Odukoya, Adebowale A. Adeyemo, Jeffrey C. Murray, Anya Prince, Azeez Butali
Summary: This study investigates the frequency and pathogenicity of secondary findings in an African population and finds a higher frequency of secondary findings in Africans compared to other populations. The results are important for early disease risk identification and increasing knowledge of the distribution and impact of relevant genomic variants in diverse populations.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
Leigh Anne Stout, Cynthia Hunter, Courtney Schroeder, Nawal Kassem, Bryan P. Schneider
Summary: A germline pathogenic variant may be present even if tumor genomic sequencing results are normal. Therefore, it is necessary to complete both germline and somatic testing when making treatment decisions and determining screening measures.
NPJ GENOMIC MEDICINE
(2023)
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.
Article
Genetics & Heredity
Liliana Elizabeth Rodriguez-Salgado, Claudia Tamar Silva-Aldana, Esteban Medina-Mendez, Jose Bareno-Silva, Mauricio Arcos-Burgos, Daniel Felipe Silgado-Guzman, Carlos M. Restrepo
Summary: This study aimed to determine the prevalence of secondary findings (SF) in a Colombian population for 59 genes associated with 27 genetic diseases. The results showed that 8.13% of patients had pathogenic variants in 11 genes. No association was found between socio-demographic variables and the need to report SF. This study provides the first approach to the spectrum of actionable pathogenic variants in the Colombian population.
Review
Genetics & Heredity
Austin A. Saugstad, Natasha Petry, Catherine Hajek
Summary: As our understanding of genomics and genetic testing continues to advance, the personalization of medical decision making is progressing simultaneously. By carefully crafting medical care to fit the specific needs of the individual, patients can experience better long-term outcomes, reduced toxicities, and improved healthcare experiences. Studies have revealed diverse relationships between specific genetic variants and available therapies, ranging from well-documented clinical approaches to potential future applications.
FRONTIERS IN GENETICS
(2022)
Article
Gastroenterology & Hepatology
Natalie Farha, Jennifer Hrabe, Joseph Sleiman, Jonathan Beard, Ruishen Lyu, Amit Bhatt, James Church, Brandie Heald, David Liska, Gautam Mankaney, Susan Milicia, Michael Silverman, Matthew F. Kalady, Carol A. Burke
Summary: Approximately 1 in 6 asymptomatic patients with LS undergoing EGD surveillance were found to have clinically actionable findings. Five patients (1.5%) were diagnosed with early-stage upper gastrointestinal cancers, suggesting the effectiveness of both baseline and follow-up EGD surveillance in detecting early-stage UGI cancers in asymptomatic LS patients.
GASTROINTESTINAL ENDOSCOPY
(2022)
Article
Obstetrics & Gynecology
Laura Kasak, Kristiina Lillepea, Liina Nagirnaja, Kenneth Aston, Peter N. Schlegel, Joao Goncalves, Filipa Carvalho, Daniel Moreno-Mendoza, Kristian Almstrup, Michael L. Eisenberg, Keith A. Jarvi, Moira K. O'Bryan, Alexandra M. Lopes, Donald F. Conrad, Margus Punab, Maris Laan
Summary: This study analyzed the load, distribution, and clinical value of secondary findings identified in exome sequencing of patients with non-obstructive azoospermia (NOA). The findings showed that 3.6% of NOA cases carried medically actionable secondary findings, and 37% of patients with secondary findings had variants in genes linked to male infertility. Further research is needed to determine the characteristics of these secondary findings in the general population and NOA patients specifically.
HUMAN REPRODUCTION
(2022)
Article
Oncology
Kai Ma, Youpeng Wang, Yuanzheng Zhang, Hongfa Sun, Xuhui Zhang, Chuandong Sun, Bingyuan Zhang, Ying Zhang, Haoyue Cheng, Ao Liu, Mengyao Wang, Bing Han
Summary: This study aimed to explore the genetic mutation characteristics of cholangiocarcinoma (CCA) and provide potential targets for early diagnosis and treatment. Through retrospective analysis of genetic testing data of Chinese CCA patients, the study identified multiple mutated driver genes and enriched pathways, providing new insights for the treatment of CCA.
Article
Oncology
Rongjie Zhao, Hongshen Li, Weiting Ge, Xiuming Zhu, Liang Zhu, Xiangbo Wan, Guanglan Wang, Hongming Pan, Jie Lu, Weidong Han
Summary: This study compares the genetic landscape of hepatoid adenocarcinoma of the stomach (HAS) with liver hepatocellular carcinoma (LIHC), gastric cancer (GC), and AFP-producing GC (AFPGC), and identifies clinically actionable alterations. The study reveals significant differences in copy number variants (CNVs) between HAS and LIHC, GC, and AFPGC, and identifies CNVs related to aggressive behavior. Moreover, clinically actionable alterations are found in 55.26% of HAS patients, including amplifications of ERBB2, FGFR1, CDK4, EGFR, MET, and MDM2, as well as BRCA1/2 mutations. These findings provide insights into the genomic features of HAS and potential therapeutic targets.
Article
Medicine, General & Internal
Jennifer L. Anderson, Teresa M. Kruisselbrink, Emily C. Lisi, Therese M. Hughes, Joan M. Steyermark, Erin M. Winkler, Corinne M. Berg, Robert A. Vierkant, Ruchi Gupta, Ahmad H. Ali, Stephanie S. Faubion, Stacy L. Aoudia, Tammy M. McAllister, Gianrico Farrugia, A. Keith Stewart, Konstantinos N. Lazaridis
Summary: The study aimed to assess clinically actionable results and other genetic findings in healthy adults undergoing genomic testing. Results showed that 11.6% of patients had clinically actionable results, with many patients found to carry pathogenic genes.
MAYO CLINIC PROCEEDINGS
(2021)
Article
Oncology
Mithua Ghosh, Radheshyam Naik, Sheela Mysore Lingaraju, Sridhar Papaiah Susheela, Shekar Patil, Gopinath Kodaganur Srinivasachar, Satheesh Chiradoni Thungappa, Krithika Murugan, Srinivas Belagutty Jayappa, Somorat Bhattacharjee, Nalini Rao, Mahesh Bandimegal, Roopesh Krishnappa, Shashidhara Haragadde Poppareddy, Krishna Chennagiri Raghavendrachar, Yogesh Shivakumar, Sunitha Nagesh, Ramya Kodandapani, Ashwini Rajan, Urvashi Bahadur, Pooja Agrawal, Veena Ramaswamy, Tejaswini Bangalore Nanjaiah, Sateesh Kunigal, Shanmukh Katragadda, Ashwini Manjunath, Amritanshu Ram, Basavalinga S. Ajaikumar
Summary: Breast cancer is a heterogeneous disease with varying responses and prognoses. Identifying frequent hotspot mutations in breast cancer can guide personalized treatment.
TRANSLATIONAL ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Amanda M. Willis, Bronwyn Terrill, Angela Pearce, Alison McEwen, Mandy L. Ballinger, Mary-Anne Young
Summary: Researchers and research participants increasingly support returning clinically actionable genetic research findings to participants, leading to the development of the My Research Results program. This initiative, led by genetic counsellors, offers genetic counselling services, support for researchers in ethical strategy development, and an online information platform for accessing research findings.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Oncology
P. Terraf, F. Pareja, D. N. Brown, O. Ceyhan-Birsoy, M. Misyura, S. Rana, E. O'Reilly, M. Carlo, C. Aghajanian, Y. Liu, F. Derakhshan, G. Jayakumaran, B. Weigelt, M. Walsh, Z. Stadler, K. Offit, M. Ladanyi, M. Robson, A. Zehir, J. S. Reis-Filho, D. Mandelker
Summary: Tumor-only sequencing is suitable for the detection of clinically actionable germline variants, particularly for single-nucleotide variants (SNVs) and small indels. However, for alterations affecting HRD, DDR, and MMR genes, the detection may not be optimal. Clinical genetic testing should be considered for high-risk patients with negative tumor-only sequencing results.
ANNALS OF ONCOLOGY
(2022)
Article
Genetics & Heredity
Turki M. Sobahy, Ghassan Tashkandi, Donya Bahussain, Raneem Al-Harbi
Summary: The recent development of parallel sequencing technology in oncology has generated a large amount of cell-specific genetic information, but the interpretation and classification of these variants remain challenging and lack standardization. The AMP, ASCO, and CAP have released consensus guidelines for the cataloging and clinical annotations of cell-specific variants. A new computational method was developed and applied to tumor-specific databases to produce a clinically actionable cancer somatic variants dataset. The study also highlighted the challenges and limitations of using different classification systems or computational methods.
BMC MEDICAL GENOMICS
(2022)
Article
Oncology
Joline F. Roze, Joachim Kutzera, Wouter Koole, Margreet G. E. M. Ausems, Kristi Engelstad, Jurgen M. J. Piek, Cor D. de Kroon, Rene H. M. Verheijen, Gijs van Haaften, Ronald P. Zweemer, Glen R. Monroe
Summary: Although adult granulosa cell tumors (AGCT) may have a hereditary component, this study did not identify a specific genetic variant or locus contributing to AGCT predisposition. Through investigations in four families, lower age at AGCT diagnosis and presence of breast cancer, PCOS, and subfertility were observed.
Article
Genetics & Heredity
Lina Shao, Yassmine Akkari, Linda D. Cooley, David T. Miller, Bryce A. Seifert, Daynna J. Wolff, Fady M. Mikhail
Summary: Chromosomal microarray technologies are commonly used for diagnostic evaluation in both constitutional and neoplastic disorders, providing important genomic data for the assessment of chromosomal imbalances and major fetal structural abnormalities, as well as diagnosis, prognosis, and therapy of neoplastic disorders.
GENETICS IN MEDICINE
(2021)
Article
Critical Care Medicine
William B. Hannah, Bryce A. Seifert, Rebecca Truty, Maimoona A. Zariwala, Kristen Ameel, Yi Zhao, Keith Nykamp, Benjamin Gaston
Summary: The study aimed to estimate the global prevalence and ethnic heterogeneity of primary ciliary dyskinesia (PCD). By calculating the allele frequency of disease-causing variants in 29 PCD genes associated with autosomal recessive inheritance in 182,681 individuals, the minimum worldwide prevalence of PCD was found to be at least one in 7,554 individuals, with higher rates in individuals of African ancestry compared to other populations. The study also identified gene distributions that differ from previous European and North American studies.
LANCET RESPIRATORY MEDICINE
(2022)
Meeting Abstract
Genetics & Heredity
Rachel Gore, Morgan Similuk, Jia Yan, Michael Setzer, Michael Kamen, Colleen Jodarski, Aleksandra Dakic, Erin Torres, Jonathan Blumenthal, Rylee Duncan, Devin Hunt, Madison Mixer, Breanna Beers, Yunting Yu, Kathleen Jevtich, Bryce Seifert, Rajarshi Ghosh, Armin Raznahan, Magdalena Walkiewicz-Yvon
GENETICS IN MEDICINE
(2022)
Meeting Abstract
Genetics & Heredity
Devin Hunt, Noreen Mohsin, Paul Nghiem, Morgan Similuk, Bryce Seifert, Rajarshi Ghosh, Isaac Brownell, Magdalena Walkiewicz-Yvon
GENETICS IN MEDICINE
(2022)
Meeting Abstract
Genetics & Heredity
Breanna Beers, Morgan Similuk, Jia Yan, Michael Kamen, Michael Setzer, Colleen Jodarski, Bryce Seifert, Rajarshi Ghosh, Rylee Duncan, Devin Hunt, Madison Mixer, Kathleen Jevtich, Yunting Yu, Luis Franco, Steven Holland, Magdalena Walkiewicz-Yvon
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Julianne M. O'Daniel, Sara Ackerman, Lauren R. Desrosiers, Shannon Rego, Sara J. Knight, Lonna Mollison, Grace Byfield, Katherine P. Anderson, Maria Danila, Carol R. Horowitz, Galen Joseph, Grace Lamoure, Nangel M. Lindberg, Carmit K. McMullen, Kathleen F. Mittendorf, Michelle A. Ramos, Mimsie Robinson, Catherine Sillari, Ebony B. Madden
Summary: There is a critical need for genomic medicine research that reflects and benefits diverse populations, but disparities and challenges in research populations persist. New approaches through stakeholder engagement can enhance outcomes. Tailored strategies and early engagement efforts across stakeholder groups contribute to improved research outcomes and relevance.
GENETICS IN MEDICINE
(2022)
Article
Health Care Sciences & Services
Kimberly S. Foss, Julianne M. O'Daniel, Jonathan S. Berg, Sabrina N. Powell, Rosemary Jean Cadigan, Kristine J. Kuczynski, Laura Milko, Katherine W. Saylor, Megan Roberts, Karen Weck, Gail E. Henderson
Summary: The current landscape of genomic screening programs in the United States is not well-known, with limited information available on program features, costs, outcomes, and sustainability. Most programs offer testing at reduced or no cost, but sustainability remains uncertain. The diversity in gene testing lists poses challenges for harmonized data collection and assessment of program outcomes.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Allergy
Morgan N. Similuk, Jia Yan, Rajarshi Ghosh, Andrew J. Oler, Luis M. Franco, Michael R. Setzer, Michael Kamen, Colleen Jodarski, Thomas DiMaggio, Joie Davis, Rachel Gore, Leila Jamal, Adrienne Borges, Nicole Gentile, Julie Niemela, Chenery Lowe, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Amy P. Hsu, Celine Hong, Patricia Littel, Bryce A. Seifert, Joshua Milner, Jennifer J. Johnston, Xi Cheng, Zhiwen Li, Daniel Veltri, Ke Huang, Krishnaveni Kaladi, Jason Barnett, Lingwen Zhang, Nikita Vlasenko, Yongjie Fan, Eric Karlins, Satishkumar Ranganathan Ganakammal, Robert Gilmore, Emily Tran, Alvin Yun, Joseph Mackey, Svetlana Yazhuk, Justin Lack, Vasudev Kuram, Wenjia Cao, Susan Huse, Karen Frank, Gary Fahle, Sergio Rosenzweig, Yan Su, SuJin Hwang, Weimin Bi, John Bennett, Ian A. Myles, Suk See De Ravin, Ivan Fuss, Warren Strober, Bibiana Bielekova, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Peter Williamson, Kelly Kumar, Caeden Dempsy, Pamela Frischmeyer-Guerrerio, Robin Fisch, Hyejeong Bolan, Dean D. Metcalfe, Hirsh Komarow, Melody Carter, Kirk M. Druey, Irini Sereti, Lesia Dropulic, Amy D. Klion, Paneez Khoury, Elise M. O' Connell, Nicole C. Holland-Thomas, Thomas Brown, David H. McDermott, Philip M. Murphy, Vanessa Bundy, Michael D. Keller, Christine Peng, Helen Kim, Stephanie Norman, Ottavia M. Delmonte, Elizabeth Kang, Helen C. Su, Harry Malech, Alexandra Freeman, Christa Zerbe, Gulbu Uzel, Jenna R. E. Bergerson, V. Koneti Rao, Kenneth N. Olivier, Jonathan J. Lyons, Andrea Lisco, Jeffrey Cohen, Michail S. Lionakis, Leslie G. Biesecker, Sandhya Xirasagar, Luigi D. Notarangelo, Steven M. Holland, Magdalena A. Walkiewicz
Summary: This study developed a program that integrated multiple genetic evaluation techniques to identify molecular diagnoses for immune-related presentations in a large cohort of participants. The program successfully discovered new gene-disease associations and contributed to our understanding of the clinical utility of whole exome analysis on a large scale.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Breanna J. J. Beers, Morgan N. N. Similuk, Rajarshi Ghosh, Bryce A. A. Seifert, Leila Jamal, Michael Kamen, Michael R. R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J. J. Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. D. A. Huryn, Kenneth N. N. Olivier, Helen C. C. Su, Jonathan J. J. Lyons, Christa S. S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. F. Freeman, Steven M. M. Holland, Luis M. M. Franco, Magdalena A. A. Walkiewicz, Jia Yan
Summary: Genome-wide chromosomal microarray analysis (CMA) can significantly contribute to the diagnosis of inborn errors of immunity (IEI), increasing the overall diagnostic yield by 15.5%. Pairing CMA with exome sequencing (ES) allows for a comprehensive evaluation of both immune and non-immune phenotypes, helping to untangle complex clinical presentations.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Genetics & Heredity
Gordana Raca, Caroline Astbury, Andrea Behlmann, Mauricio J. De Castro, Scott E. Hickey, Ender Karaca, Chelsea Lowther, Erin Rooney Riggs, Bryce A. Seifert, Erik C. Thorland, Joshua L. Deignan
GENETICS IN MEDICINE
(2023)
Meeting Abstract
Dermatology
Noreen Moshin, Devin Hunt, Austin J. Jabbour, Paul Nghiem, Alexandra F. Freemam, Jenna Re Bergerson, Morgan Similuk, Kristina Lachance, Rima Kulikauskas, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Isaac Brownell
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Meeting Abstract
Dermatology
Noreen Moshin, Devin Hunt, Austin J. Jabbour, Paul Nghiem, Alexandra F. Freemam, Jenna R. E. Bergerson, Morgan Similuk, Kristina Lachance, Rima Kulikauskas, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Isaac Brownell
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Meeting Abstract
Immunology
Magdalena Walkiewicz, Jia Yan, Morgan Similuk, Michael Kamen, Michael Setzer, Colleen Jodarski, Bryce Seifert, Andrew Oler, Mark Rustad, Steven Holland, Rajarshi Ghosh
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Meeting Abstract
Immunology
Jia Yan, Wenjia Cao, Justin Lack, Rajarshi Ghosh, Vasudev Kuram, Morgan Similuk, Bryce Seifert, Michael Setzer, Michael Kamen, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Breanna Beers, Kelly Kumar, Kenneth Olivier, Steven Holland, Magdalena Walkiewicz
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Meeting Abstract
Immunology
Colleen Jodarski, Jia Yan, Wenjia Cao, Kelly Kumar, Rajarshi Ghosh, Bryce Seifert, Michael Kamen, Michael Setzer, Rachel Gore, Rylee Duncan, Devin Hunt, Madison Mixer, Breanna Beers, Steven Holland, Morgan Similuk, Magdalena Walkiewicz, Kenneth Olivier
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)