Results 1 to 10 of about 3,467,091 (212)

Evidence‐based consensus guidelines for ALS genetic testing and counseling

Annals of Clinical and Translational Neurology, 2023
Objective Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet
Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms, Stephen J. Kolb, the ALS Genetic Testing and Counseling Guidelines Expert Panel   +5 more
doaj   +2 more sources

Scaling Genetic Counseling in the Genomics Era

Annual Review of Genomics and Human Genetics, 2021
The development of massively parallel sequencing-based genomic sequencing tests has increased genetic test availability and access. The field and practice of genetic counseling have adapted in response to this paradigm-shifting technology and the ...
Laura M Amendola, Katie Golden-Grant, Sarah Scollon   +2 more
exaly   +2 more sources

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

Genetic counseling processes and strategies for racially and ethnically diverse populations: A systematic review

Journal of Genetic Counseling, 2023
Genetic counseling outcomes are influenced by the processes and strategies used by counselors, yet little is known about how these strategies directly impact patients and populations. In particular, tailoring genetic counseling consultations to best meet
Mrunmayee Shete, Megan Kocher, R. Pratt, Heewon Lee, H. Zierhut   +4 more
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

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

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

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

Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences

Journal of Genetic Counseling, 2022
Genetic counseling and diagnostic genetic testing is part of the multidisciplinary care of people with amyotrophic lateral sclerosis (ALS, commonly called motor neurone disease, MND) and frontotemporal dementia (FTD).
A. Crook, C. Jacobs, T. Newton-John, A. McEwen   +3 more
semanticscholar   +1 more source

Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes—Practice resource of the National Society of Genetic Counselors

Journal of Genetic Counseling, 2021
Cancer risk assessment and genetic counseling for hereditary breast and ovarian cancer (HBOC) are a communication process to inform and prepare patients for genetic test results and the related medical management.
J. Berliner, S. Cummings, Brittany Boldt Burnett, C. Ricker   +3 more
semanticscholar   +1 more source