scholarly journals The impact of the emergence of COVID‐19 on women's prenatal genetic testing decisions

2021 ◽  
Author(s):  
Ruth M. Farrell ◽  
Madelyn Pierce ◽  
Christina Collart ◽  
Caitlin Craighead ◽  
Marissa Coleridge ◽  
...  
2019 ◽  
Vol 22 (2) ◽  
pp. 258-267 ◽  
Author(s):  
Sharon J. M. Kessels ◽  
Drew Carter ◽  
Benjamin Ellery ◽  
Skye Newton ◽  
Tracy L. Merlin

2012 ◽  
Vol 158A (7) ◽  
pp. 1556-1567 ◽  
Author(s):  
Rebecca L. Wu ◽  
Cathleen S. Lawson ◽  
Ethylin Wang Jabs ◽  
Saskia C. Sanderson

Author(s):  
Courtney Berrios ◽  
Emily A. Hurley ◽  
Laurel Willig ◽  
Isabelle Thiffault ◽  
Carol Saunders ◽  
...  

Author(s):  
Cynthia H Ewel ◽  
Barnabie C Agatep ◽  
Vivian Herrera ◽  
Nathan J Markward ◽  
Eric J Stanek ◽  
...  

BACKGROUND: Cytochrome P450 2C19 genotype has been shown to modify cardiovascular outcomes on clopidogrel therapy in patients post-acute coronary syndromes or percutaneous coronary interventions. Recent clopidogrel label changes have incorporated this information; however real-world application of genetic testing in patients receiving thienopyridine antiplatelet therapy is unknown. METHODS: A retrospective, integrated medical and pharmacy claims database, cohort analysis was conducted in patients with new clopidogrel or prasugrel prescriptions between 7/1/08-6/30/10, and continuous eligibility for 6 months pre- and 3 months post-initiation. Genetic testing was identified using CPT-4 codes present 1 month prior and 3 months post the index prescription date. Genetic testing incidence was calculated, and univariate comparisons of prescriber information, and patient demographic and clinical characteristics in cases tested vs not tested were performed. RESULTS: The analysis included 95,381 clopidogrel and 1,819 prasugrel patients. Genetic testing was recorded in 522 (0.6%) clopidogrel and 15 (0.8%) prasugrel patients, rendering the latter sample too small for detailed analysis. Clopidogrel patients receiving genetic testing (vs patients not tested) were a mean age of 58±13 yrs (68±13 yrs, p<0.001), 29% were ≥65 yrs old (61%, p<0.001), 56% were male (59%), 33% were Western US residents (18%, p<0.001), 35% were recently hospitalized for stroke (8%, p<0.001), and were less often prescribed clopidogrel by a cardiologist (22% vs 32%, p<0.001) and more often by a neurology specialist (8% vs 2%, p<0.001). The incidence of genetic testing did not vary over time. CONCLUSION: Although the FDA has provided numerous advisories that have lead to changes in clopidogrel provider information sheets, genetic testing is rarely employed in routine practice in patients prescribed clopidogrel or prasugrel therapy. Testing was biased toward younger clopidogrel patients with a recent stroke event, and non-cardiologist prescribers. While these data establish a national benchmark for future comparison, further exploration of barriers to testing, provider education and patient selection, and the impact of programmatic approaches to testing are warranted.


2021 ◽  
Author(s):  
Spinel Karas ◽  
Federico Innocenti

Irinotecan is an anticancer agent widely used for the treatment of solid tumors, including colorectal and pancreatic cancers. Severe neutropenia and diarrhea are common dose-limiting toxicities of irinotecan-based therapy, and UGT1A1 polymorphisms are one of the major risk factors of these toxicities. In 2005, the US Food and Drug Administration revised the drug label to indicate that patients with UGT1A1*28 homozygous genotype should receive a decreased dose of irinotecan. However, UGT1A1*28 testing is not routinely used in the clinic, and specific reasons include lack of access to concise information on this wide issue as well as mixed recommendations by regulatory and professional entities. To assist oncologists in assessing whether and when to use UGT1A1 genetic testing in patients receiving irinotecan-based therapies, this article provided (1) essential knowledge of UGT1A1 polymorphisms; (2) an update on the impact of UGT1A1 polymorphisms on efficacy and toxicity of contemporary irinotecan-based regimens; (3) dosing adjustments based upon the UGT1A1 genotypes, and (4) recommendations from currently available guidelines from the US and international scientific consortia and major oncology societies.


2014 ◽  
Vol 87 (2) ◽  
pp. 117-123 ◽  
Author(s):  
S. Shiloh ◽  
H.D. deHeer ◽  
S. Peleg ◽  
S. Hensley Alford ◽  
K. Skapinsky ◽  
...  

2002 ◽  
Vol 6 (2) ◽  
pp. 79-87 ◽  
Author(s):  
N. Hallowell ◽  
C. Foster ◽  
A. Ardern-Jones ◽  
R. Eeles ◽  
V. Murday ◽  
...  

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