Results 1 to 10 of about 3,055,534 (337)

Genetic counseling development and milestone in Oman [PDF]

Genetics in Medicine Open
Genetic counseling as an emerging profession has seen an expansion around the world. In the Sultanate of Oman, the profession has developed with the establishment of clinical and biochemical genetic services in 2010 and genetic counseling services in ...
Khalsa Al-Kharusi, Chantel Van Wyk, Mariya Al Hinai, Amel Al-Fori, Zandre Bruwer   +4 more
doaj   +2 more sources

MAGENTA (Making Genetic testing accessible): a prospective randomized controlled trial comparing online genetic education and telephone genetic counseling for hereditary cancer genetic testing

BMC Cancer, 2019
Background Studies have consistently indicated that the majority of individuals meeting the US Prevention Services Task Force guidelines for genetic testing have not had genetic counseling or testing.
Nadine Rayes, Deborah J. Bowen, Tara Coffin, Denise Nebgen, Christine Peterson, Mark F. Munsell, Kathleen Gavin, Rebecca Lechner, Jamie Crase, Deborah Polinsky, Iris Romero, Stephanie V. Blank, Douglas A. Levine, Barbara M. Norquist, Elizabeth M. Swisher, Karen H. Lu   +15 more
doaj   +2 more sources

Genetic counseling in the Middle East: provider perspectives of patient attitudes and cultural challenges [PDF]

Human Genomics
Genomic advancements have led to increased utilization of genetic testing in clinical care, yet barriers to accessing genetic counseling and genomics services remain, particularly in the Middle East where inherited diseases are highly prevalent due to ...
Shruti Shenbagam, Alan Taylor, Ruchi Jain, Khalid Fakhro, Fowzan Alkuraya, Ahmad Abou Tayoun   +5 more
doaj   +2 more sources

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing

Genes, 2023
We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted ...
O. Talantova, A. S. Koltsova, A. Tikhonov, A. Pendina, O. Malysheva, O. Tarasenko, E. Vashukova, E. Shabanova, Arina V. Golubeva, O. Chiryaeva, A. Glotov, O. Bespalova, O. Efimova   +12 more
semanticscholar   +1 more source

Considerations for the use of qualitative methodologies in genetic counseling research

Journal of Genetic Counseling, 2022
An abundance of qualitative research is being conducted within the genetic counseling field. As this area of research expands, many within our community are “learning through doing”, an approach which is practical, but may lack theoretical grounding ...
Tasha Wainstein, A. Elliott, J. Austin
semanticscholar   +1 more source

Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas

Clinical and Translational Oncology, 2021
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic/parasympathetic neural ganglia, respectively.
R. García-Carbonero, F. Matute Teresa, E. Mercader-Cidoncha, M. Mitjavila-Casanovas, M. Robledo, I. Tena, C. Alvarez-Escola, M. Arístegui, M. Bella-Cueto, C. Ferrer-Albiach, F. Hanzu   +10 more
semanticscholar   +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

Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, 2021
Congenital heart disease (CHD) is an indication which spans multiple specialties across various genetic counseling practices. This practice resource aims to provide guidance on key considerations when approaching counseling for this particular indication
Hannah E Ison, E. Griffin, Ashley Parrott, Amy R Shikany, L. Meyers, M. J. Thomas, Erin Syverson, Erin M. Demo, Kristi K. Fitzgerald, Sara M. Fitzgerald-Butt, Katie Ziegler, Allison F Schartman, Kristyne M Stone, B. Helm   +13 more
semanticscholar   +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