Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Dermatology"
DOI: 10.1001/jamadermatol.2017.2926
Abstract: Importance Genetic testing for melanoma-prone mutation in France, a country with low to moderate incidence of melanoma, is proposed in cases with 2 invasive cutaneous melanomas and/or related cancers in the same patient, or in… read more here.
Keywords: melanoma; genetic testing; low moderate; moderate incidence ... See more keywords
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.38167
Abstract: Key Points Question Do patients with colorectal cancer (CRC) receive microsatellite instability and/or immunohistochemistry (MSI/IHC) tumor screening and germline genetic testing (GGT) when they have insurance that covers these tests? Findings In a cohort study… read more here.
Keywords: patients colorectal; universal testing; germline genetic; genetic testing ... See more keywords
Barriers to Genetic Testing in Vascular Malformations
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2023.14829
Abstract: This survey study reports on the current logistics and challenges of ordering and coordinating insurance authorization for genetic testing for pediatric patients with vascular anomalies. read more here.
Keywords: barriers genetic; testing vascular; vascular malformations; genetic testing ... See more keywords
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Neurology"
DOI: 10.1001/jamaneurol.2022.3651
Abstract: This cross-sectional study investigates if genetic diagnoses in patients with epilepsy are associated with changes in clinical management and subsequent outcomes. read more here.
Keywords: inform epilepsy; testing inform; genetic testing; management ... See more keywords
Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines
Sign Up to like & getrecommendations! Published in 2019 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2018.6760
Abstract: Importance Prostate cancer is the third leading cause of cancer-related death in men in the United States. Although serious, most of these diagnoses are not terminal. Inherited risk for prostate cancer is associated with aggressive… read more here.
Keywords: cancer; genetic testing; prostate cancer; germline variants ... See more keywords
A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer
Sign Up to like & getrecommendations! Published in 2019 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2019.3323
Abstract: Key Points Question Is unselected genetic testing of all women with breast cancer cost-effective compared with testing based on clinical criteria or family history? Findings In this cost-effectiveness microsimulation modeling study incorporating data from 11… read more here.
Keywords: cancer; genetic testing; cost effectiveness; breast cancer ... See more keywords
Needs assessment in genetic testing education: A survey of parents of children with autism spectrum disorder in the united states
Sign Up to like & getrecommendations! Published in 2019 at "Autism Research"
DOI: 10.1002/aur.2152
Abstract: Understanding parents' educational needs concerning genetic testing for their children with autism spectrum disorder (ASD) is important in developing tailored, evidence‐based health education materials for clinical use. Since research is lacking in this area, to… read more here.
Keywords: education; genetic testing; health education; children autism ... See more keywords
What is the appropriate genetic testing criteria for breast cancer in the Chinese population?-Analysis of genetic and clinical features from a single cancer center database.
Sign Up to like & getrecommendations! Published in 2023 at "Cancer medicine"
DOI: 10.1002/cam4.5976
Abstract: BACKGROUND Genetic testing plays an important role in guiding screening, diagnosis, and precision treatment of breast cancer (BC). However, the appropriate genetic testing criteria remain controversial. The current study aims to facilitate the development of… read more here.
Keywords: appropriate genetic; genetic testing; brca lpvs; non brca ... See more keywords
Utility of genetic testing in athletes
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Cardiology"
DOI: 10.1002/clc.23289
Abstract: Abstract Athletes are some of the fittest members of our society, yet paradoxically carry an increased risk of sudden cardiac death (SCD). The athlete's underlying risk of SCD in sports may be increased due to… read more here.
Keywords: genetic testing; cardiology; testing athletes; pathology ... See more keywords
Risk‐reducing surgery in unaffected individuals receiving cancer genetic testing in an integrated health care system
Sign Up to like & getrecommendations! Published in 2022 at "Cancer"
DOI: 10.1002/cncr.34349
Abstract: Germline genetic testing enables primary cancer prevention, including through prophylactic surgery. We examined risk‐reducing surgeries in unaffected individuals tested for hereditary cancer susceptibly between 2010 and 2018 in the Kaiser Permanente Northwest health system. read more here.
Keywords: surgery; risk reducing; genetic testing; cancer ... See more keywords
Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure.
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DOI: 10.1002/ehf2.13596
Abstract: AIMS The aim of the present study was to consider whether the ultrastructural features of cardiomyocytes in dilated cardiomyopathy can be used to guide genetic testing. METHODS AND RESULTS Endomyocardial biopsy and whole-exome sequencing were… read more here.
Keywords: dilated cardiomyopathy; genetic testing; sporadic dilated; heart failure ... See more keywords