Purpose: To develop an approach to identify and evaluate recent use of multigene panel testing over time.
Methods: We conducted a retrospective database analysis using medical and pharmacy claims data. Medicare Advantage Prescription Drug Plan members diagnosed with select malignant solid tumors were identified. The pattern of somatic genetic testing for each patient was evaluated from January 2016 through December 2018. Tests were classified by the number of genes tested in the panel: < 50 (small or medium) and ≥ 50 (large).
Results: An initial feasibility study using our novel approach for identifying panel tests resulted in 2.4 and 1.2 times more large and medium panels, respectively, identified compared with using procedure codes alone. A total of 121,675 eligible patients were identified, with 131,915 unique cancer cases. Overall, 5,457 (4.5%) patients received any panel test from 2016 to 2018. We found the number of tests performed each quarter increased from 238 in Q1 of 2016 to 755 in Q4 of 2018. The highest number of cases were genitourinary cancers; however, the highest proportion of cancer-related genetic testing was among patients with respiratory cancer. Across all tumor types, the proportion of large-panel tests performed as a function of all multigene panel tests increased from 20.7% of tests in Q1 of 2016 to 46.4% of tests in Q4 of 2018. The three cancer categories with the highest count of cancer-related panel tests, respiratory cancer, GI cancer, and female reproductive cancer, had a consistently greater proportion receiving a panel test at any point postindex.
Conclusion: Across a variety of cancers, use of somatic, large-panel cancer-related genetic testing, as a proportion of all somatic cancer-related genetic testing, increased from 2016 to 2018, although testing overall was low.
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http://dx.doi.org/10.1200/PO.20.00422 | DOI Listing |
Sci Rep
December 2024
Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
In order to plan and facilitate the culture of personalized / precision medicine in medical practices within any healthcare institution, it is requisite for healthcare professionals like clinicians to have a clear understanding and approach towards the practices of personalized genetic testing. This nationwide cross-sectional study aimed to measure the perceptions and knowledge of clinicians towards personalized genetic testing and assess their current practices of personalized genetic testing in clinical settings through an online self-administered questionnaire in Saudi Arabia. The results of the study revealed that almost two-fifths of participants were responsible for ordering genetic tests directly (39.
View Article and Find Full Text PDFAnn Clin Transl Neurol
December 2024
Department of Pediatrics, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, P. R. China.
Background: Variants in the GABRA2 gene, which encodes the α2 subunit of the γ-aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic encephalopathy (DEE) referred to as DEE78. Only eight patients have been reported globally. This study presents the clinical presentation and genetic analysis of a Chinese family with a child diagnosed with DEE78, due to a novel GABRA2 variant.
View Article and Find Full Text PDFEcol Lett
January 2025
Museum of Zoology & Department of Ecology and Evolutionary Biology, University of Michigan, Ann Arbor, Michigan, USA.
Whether large-scale variation in lineage diversification rates can be predicted by species properties at the population level is a key unresolved question at the interface between micro- and macroevolution. All else being equal, species with biological attributes that confer metapopulation stability should persist more often at timescales relevant to speciation and so give rise to new (incipient) forms that share these biological traits. Here, we develop a framework for testing the relationship between metapopulation properties related to persistence and phylogenetic speciation rates.
View Article and Find Full Text PDFIndian J Med Res
November 2024
Department of Biotechnology, and Dr BC Guha Centre for Genetic Engineering and Biotechnology, University of Calcutta, Kolkata, West Bengal, India.
Background & objectives Spirometric glycopyrronium responsiveness, a new advent, needs to be examined at in terms of degree and frequency in different obstructive-airway diseases diagnosed in real world practise. Methods Serial and willing symptomatic affected individuals of suspected airway disease underwent a pragmatic post-consultation spirometry-protocol on the same day with salbutamol followed by glycopyrronium bromide. The diagnosis of asthma (FEV1-reversibility ≥ 200 ml + 12%), chronic obstructive pulmonary disease (COPD) (FEV1/FVC<0.
View Article and Find Full Text PDFEur Heart J Case Rep
January 2025
Xijing Hypertrophic Cardiomyopathy Center, Department of Ultrasound, Xijing Hospital, Airforce Military Medical University, Xi'an, Shaanxi 710032, China.
Background: This is a case report of a patient with Fabry disease (FD). We successfully treated a patient with ventricular septal hypertrophy and left ventricular outflow tract (LVOT) obstruction caused by FD. We report our exclusive new surgery for patients with LVOT obstruction, percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) procedure™ (percutaneous intramyocardial septal radiofrequency ablation).
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