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Exploring Factors That Impact Genetic Counseling Referral and Uptake Using Learning Health Approaches [PDF]

Learning Health Systems
Introduction Germline testing and pretest genetic counseling are advised for many cancer patients, yet not all receive these services. Electronic Health Records (EHRs) offer a valuable resource to measure referral to genetic counseling (referral receipt)
Samantha Greenberg, Bob Wong, Katherine A. Sward, Kathleen A. Cooney, Jonathan Tward, Andrew Post, Mollie R. Cummins   +6 more
doaj   +2 more sources

Perception of Premarital Screening and Genetic Counseling among Future Couples [PDF]

Egyptian Journal of Health Care, 2022
Background: Premarital screening and genetic counseling are important plans and strategies for preventing genetic disorders and congenital anomalies.
A. KH. Khalil, I. K. Ali, D. KH. Eshra, E. M. Hamed   +3 more
doaj   +1 more source

A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions

Diagnostics, 2022
Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs)
Jui-Hung Yen, Shao-Yin Chu, Yann-Jang Chen, Yi-Chieh Su, Chun-Ching Chien, Chun-Ying Weng, Pei-Yi Chen   +6 more
doaj   +1 more source

Knowledge and Attitudes among Tanta University Students Regarding to Genetic Disorders and Genetic Counseling [PDF]

Tanta Scientific Nursing Journal, 2021
 Background:  Advancements in genomic sciences turned the focus of health care from the diagnosis and treatment of genetic diseases to genetic risk identification, genetic counseling and protective actions.
Entesar El-Hosany, Samia Khaton
doaj   +1 more source

Simultaneous bilateral mastectomy and RRSO for BRCA2-positive non-invasive breast cancer in Japan: a case report and analysis of initial experience

Hereditary Cancer in Clinical Practice, 2023
Background In Japan, genetic testing, surveillance, and risk-reducing surgery for hereditary breast and ovarian cancer (HBOC) syndrome have been covered by the Japanese national insurance system since April 2020.
Aya Tanaka, Megumi Matsumoto, Mami Takao, Shoko Miura, Yuri Hasegawa, Ryota Otsubo, Hiroko Hayashi, Ichiro Isomoto, Kiyonori Miura, Takeshi Nagayasu   +9 more
doaj   +1 more source

Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant

Human Genome Variation, 2022
Most cases of rhabdomyosarcoma (RMS) are sporadic and not associated with the Lynch syndrome (LS) spectrum. We report a young adult patient with RMS and a family history of colorectal cancer.
Akimasa Tomida, Tomohiro Chiyonobu, Shinsaku Tokuda, Mitsuru Miyachi, Kyoko Murashima, Makoto Hirata, Masanori Nakagawa, Tomoko Iehara, Junya Kuroda, Koichi Takayama   +9 more
doaj   +1 more source

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection

Journal of Translational Medicine, 2020
Background In the context of our Regional Program of Hereditary Cancer, individuals fulfilling the criteria are tested for germline mutations to subsequently establish the clinical management.
Carolina Velázquez, Enrique Lastra, Francisco Avila Cobos, Luis Abella, Virginia de la Cruz, Blanca Ascensión Hernando, Lara Hernández, Noemí Martínez, Mar Infante, Mercedes Durán   +9 more
doaj   +1 more source

Discrepancy of Cytogenetic Analysis in Western and Eastern Taiwan

Pediatrics and Neonatology, 2013
This study aimed at investigating the results of second-trimester amniocyte karyotyping in western and eastern Taiwan, and identifying any regional differences in the prevalence of fetal chromosomal anomalies.
Yu-Hsun Chang, Pui-Yi Chen, Tzu-Ying Li, Chung-Nan Yeh, Yi-Shian Li, Shao-Yin Chu, Ming-Liang Lee   +6 more
doaj   +1 more source

Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study. [PDF]

PLoS ONE, 2014
Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community.
Christina G S Palmer, Patrick Boudreault, Erin E Baldwin, Janet S Sinsheimer   +3 more
doaj   +1 more source

Characteristics of breast cancer in BRCA1/BRCA2 mutation carriers and non-carriersfrom a genetic counseling unit in Croatia

Libri Oncologici, 2020
Breast cancer (BC) represents 25% of all malignancies in Croatian women, and in 18.8% of cases, it is diagnosed before the age of 50. Croatia launched BRCA testing of people at increased family risk.
Snježana Ramić, Gabriela Alfier, Iva Kirac, Ivan Milas, Tomislav Orešić   +4 more
doaj   +1 more source