Article
Obstetrics & Gynecology
D. Reisel, M. Burnell, L. Side, K. Loggenberg, S. Gessler, R. Desai, S. Sanderson, A. F. Brady, H. Dorkins, Y. Wallis, C. Jacobs, R. Legood, U. Beller, I Tomlinson, J. Wardle, U. Menon, I Jacobs, R. Manchanda
Summary: Jewish religious and cultural identity, as well as denominational affiliation, do not seem to significantly influence interest, intention, or uptake of population-based BRCA testing. BRCA testing shows robust uptake across all Jewish denominations.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2021)
Article
Genetics & Heredity
Qingling Bi, Shasha Huang, Hui Wang, Xue Gao, Minyue Ma, Mingyu Han, Sijia Lu, Dongyang Kang, Aida Nourbakhsh, Denise Yan, Susan Blanton, Xuezhong Liu, Yongyi Yuan, Yuanqing Yao, Pu Dai
Summary: A PGT procedure combining MALBAC and SNPs linkage analyses with a single low-depth next-generation sequencing run was implemented to evaluate the clinical validity of PGT for preventing hereditary HL in the Chinese population. The procedure was demonstrated to be effective and lead to satisfactory clinical outcomes.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Obstetrics & Gynecology
Matthew Burnell, Faiza Gaba, Monika Sobocan, Rakshit Desai, Saskia Sanderson, Kelly Loggenberg, Sue Gessler, Lucy Side, Angela F. Brady, Huw Dorkins, Yvonne Wallis, Chris Jacobs, Rosa Legood, Uziel Beller, Ian Tomlinson, Jane Wardle, Usha Menon, Ian Jacobs, Ranjit Manchanda
Summary: Population-based and family history-based AJ BRCA testing have similar long-term impacts on lifestyle and cancer risk perception, including smoking, alcohol consumption, diet, exercise, and breast screening behavior.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Oncology
Alexandra Wehbe, Mark Manning, Hadeel Assad, Kristen S. Purrington, Michael S. Simon
Summary: This study examined racial differences in referral and uptake of genetic counseling among women with breast cancer. The findings showed no racial differences in referral or appointment completion in a clinic-based population of women with breast cancer. The study suggests the need for further interventions to increase referral and appointment completion for eligible women.
Article
Genetics & Heredity
Zixin Qin, Cheong Nang Kuok, Hui Dong, Luhan Jiang, Li Zhang, Maoni Guo, Hio Kuan Leong, Lei Wang, Grace Meng, San Ming Wang
Summary: Pathogenic mutations in BRCA genes pose a high risk of cancer, but population screening may not be cost-effective for most populations. The study indicates that testing cost is not the primary factor to consider for population BRCA screening in developed countries/regions.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Oncology
Banu K. Arun, Susan K. Peterson, Lilian E. Sweeney, Rachel D. Bluebond, Rebecca S. S. Tidwell, Sukh Makhnoon, Anne C. Kushwaha
Summary: The study demonstrates that large-scale screening for HBOC syndromes at time of breast imaging is practical and highly feasible. The screening tool identified women with actionable BRCA1/2 mutations and mutation-negative but high-risk women, leading to significant changes in their risk management; these women would otherwise have been missed.
Article
Genetics & Heredity
Kelly M. Morgan, Jada G. Hamilton, Heather Symecko, Daniella Kamara, Colby Jenkins, Jenny Lester, Kelsey Spielman, Lydia E. Pace, Camila Gabriel, Jeffrey D. Levin, Prince Rainier Tejada, Anthony Braswell, Vanessa Marcell, Temima Wildman, Bryan Devolder, Robin Camhi Baum, Jeremy N. Block, Yuri Fesko, Kylin Boehler, Victoria Howell, Jacob Heitler, Mark E. Robson, Katherine L. Nathanson, Nadine Tung, Beth Y. Karlan, Susan M. Domchek, Judy E. Garber, Kenneth Offit
Summary: This study aimed to evaluate the uptake and follow-up of internet-assisted population genetic testing (GT) for BRCA1/2 Ashkenazi Jewish founder pathogenic variants (AJPVs). The study found that internet-enabled outreach can expand access to targeted GT and promote increased cancer screening among AJPV carriers.
GENETICS IN MEDICINE
(2022)
Article
Oncology
Deborah Cragun, Gretter Manso, Stefania Alastre Arcusa, Brenda Zuniga, Julie Dutil, Marcia Cruz, Tuya Pal
Summary: The lack of Spanish-speaking genetic counselors hinders the delivery of hereditary cancer pre-test education to Spanish-language patients. To address this issue, a study evaluated a web-based genetic education tool delivered in Spanish. Results indicated significant increases in knowledge and decisional empowerment among participants. The qualitative data also showed positive feedback on the usability and content of the tool. This study suggests that the Spanish-language tool is a user-friendly and scalable solution to help inform and empower individuals to decide about cancer genetic testing, while acknowledging the potential benefits of genetic counseling prior to testing.
Article
Oncology
Rachel Michaelson-Cohen, Matan J. Cohen, Carmit Cohen, Dan Greenberg, Amir Shmueli, Sari Lieberman, Ariela Tomer, Ephrat Levy-Lahad, Amnon Lahad
Summary: This study analyzed the cost-effectiveness of BRCA mutation screening in the Ashkenazi Jewish population and found that population screening is both effective and cost-effective for preventing breast and ovarian cancer. BRCA testing should be made available to all Ashkenazi Jewish women, regardless of family history.
Article
Critical Care Medicine
Chad A. Newton, Justin M. Oldham, Carolyn Applegate, Nikkola Carmichael, Karen Powell, Dan Dilling, Shelley L. Schmidt, Mary Beth Scholand, Mary Armanios, Christine Kim Garcia, Jonathan A. Kropski, Janet Talbert
Summary: Patients with familial pulmonary fibrosis have inherited gene variation that predisposes them to the disease, and genetic testing can provide personalized assessment, recognition of clinically relevant manifestations, and evaluation of susceptibility in unaffected relatives. However, the current use of genetic testing lacks consistency and guidance on high-yield scenarios.
Article
Genetics & Heredity
Hiroyuki Matsubayashi, Akiko Todaka, Takeshi Kawakami, Satoshi Hamauchi, Tomoya Yokota, Satomi Higashigawa, Yoshimi Kiyozumi, Rina Harada, Nobuhiro Kado, Seiichiro Nishimura, Hirotoshi Ishiwatari, Junya Sato, Fumitaka Niiya, Hiroyuki Ono, Teiichi Sugiura, Keiko Sasaki, Hirofumi Yasui, Kentaro Yamazaki
Summary: This study investigated the incidence of g.BRCA variant and its associated genetic medicine in pancreatic cancer patients. The findings showed that only a small fraction of pancreatic cancer patients had the g.BRCA variant, and genetic counseling was more focused on the relatives. The turnaround time did not significantly affect genetic counseling, but earlier testing is preferred for patients with a deadly cancer.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Medicine, General & Internal
Juliann M. Savatt, Alicia Johns, Marci L. B. Schwartz, Whitney S. McDonald, Zachary M. Salvati, Nicole M. Oritz, Max Masnick, Kathryn Hatchell, Jing Hao, Adam H. Buchanan, Marc S. Williams
Summary: This cross-sectional study demonstrates the potential benefits of genomic screening in identifying undiagnosed iron overload and promoting relevant management for individuals with HFE gene mutations.
Article
Oncology
D. C. Greenberg, D. Kamara, Z. Tatsugawa, M. Mendoza, E. Pineda, C. H. Holschneider, M. Zakhour
Summary: This study assessed the quality of patient education videos from four major genetic testing companies and found variability in content, with the videos performing well in explaining DNA basics, cancer development, and hereditary cancer predisposition, but poorly in addressing potential disadvantages of genetic testing, medical terms, and different testing options.
GYNECOLOGIC ONCOLOGY
(2021)
Article
Genetics & Heredity
Jane M. Tiller, Nicole E. Cousens, Rajneesh Kaur, Simone Rowley, Yi-An Ko, Sakshi Mahale, Agnes Bankier, Bettina Meiser, Kristine Barlow-Stewart, Leslie Burnett, Chris Jacobs, Paul James, Alison Trainer, Suzanne Neil, Ian G. Campbell, Lesley Andrews, Martin Delatycki
Summary: The incidence of BRCA1/2 pathogenic variants is higher in Ashkenazi Jewish (AJ) people compared to unselected populations. Two population-based screening programs for BRCA-Jewish founder mutations were highly acceptable to Australian Jewish communities and led to the identification of previously unknown carriers.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Cecilia Castillo, Nora Artagaveytia, Lucia Brignoni, Yael Laitman, Natalia Camejo, Ana Laura Hernandez, Gabriel Krygier, Alfonso Cayota, Lucia Delgado, Eitan Friedman
Summary: This study aimed to assess the feasibility and outcomes of BRCA gene testing in the Jewish population of Uruguay. The study found that there is a significant proportion of Ashkenazi Jews in the greater Montevideo area who carry the BRCA1 c.68_69del PSV, while the other two common PSVs are less prevalent.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Review
Obstetrics & Gynecology
Tamar Goldwaser, Susan Klugman
FERTILITY AND STERILITY
(2018)
Article
Genetics & Heredity
Gidon Akler, Ashley H. Birch, Nicole Schreiber-Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta-Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. Webb, Eric E. Schadt, Ruth Kornreich, Lisa Edelmann
MOLECULAR GENETICS & GENOMIC MEDICINE
(2020)
Article
Medicine, Research & Experimental
Shixiang Sun, Kristina Brazhnik, Moonsook Lee, Alexander Y. Maslov, Yi Zhang, Zhenqiu Huang, Susan Klugman, Ben H. Park, Jan Vijg, Cristina Montagna
Summary: This study provides evidence that individuals with inherited BRCA1/2 mutations have an elevated mutation frequency in mammary epithelial cells, indicating a potential mechanism by which these mutations increase the risk of breast and ovarian cancer.
JOURNAL OF CLINICAL INVESTIGATION
(2022)
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)
