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 for Global Developmental Delay in Early Childhood
Sign Up to like & getrecommendations! Published in 2024 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2024.15084
Abstract: Key Points Question What are the implications of genetic testing for global developmental delay (GDD) in early childhood? Findings In this cohort study of 434 children with GDD, a diagnostic positivity rate of 61% was… read more here.
Keywords: early childhood; global developmental; developmental delay; testing global ... See more keywords
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer
Sign Up to like & getrecommendations! Published in 2024 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2024.31427
Abstract: Key Points Question What is the prevalence of germline pathogenic variants in breast cancer susceptibility genes among women with newly diagnosed invasive breast cancer? Findings In this cross-sectional study of 729 female patients with a… read more here.
Keywords: breast cancer; breast; newly diagnosed; universal genetic ... See more keywords
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma
Sign Up to like & getrecommendations! Published in 2024 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2024.4170
Abstract: Key Points Question What is the association of germline cancer-predisposition variants (CPVs) with outcomes among children with rhabdomyosarcoma? Findings In this cohort study of 580 individuals aged 0.01-23.23 years with rhabdomyosarcoma, those with CPVs in… read more here.
Keywords: among children; outcomes among; children rhabdomyosarcoma; germline genetic ... 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
Genetic Testing in Men With Metastatic Castration-Resistant Prostate Cancer
Sign Up to like & getrecommendations! Published in 2024 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2024.0851
Abstract: This cross-sectional study assesses homologous recombination repair mutation genetic testing and associated characteristics among men with metastatic castration-resistant prostate cancer (mCRPC). read more here.
Keywords: men metastatic; prostate cancer; castration resistant; metastatic castration ... See more keywords
Practice Recommendations for Genetic Testing of Ataxias.
Sign Up to like & getrecommendations! Published in 2025 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.70171
Abstract: Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic… read more here.
Keywords: testing ataxias; neurology; recommendations genetic; practice recommendations ... See more keywords