Lucid Diagnostics' Esophageal DNA Test Gets FDA Breakthrough Designation

SummaryThe factor V (FV) mutation Q506 that causes resistance to activated protein C (APC) is the genetic defect associated most frequently with venous thrombosis. The laboratory diagnosis can be made by DNA analysis or by clotting tests that measure the degree of prolongation of plasma clotting time upon addition of APC. Home-made and commercial methods are available but no comparative evaluation of their diagnostic efficacy has so far been reported. Eighty frozen coded plasma samples from carriers and non-carriers of the FV: Q506 mutation, diagnosed by DNA analysis, were sent to 8 experienced laboratories that were asked to analyze these samples in blind with their own APC resistance tests. The APTT methods were highly variable in their capacity to discriminate between carriers and non-carriers but this capacity increased dramatically when samples were diluted with FV-deficient plasma before analysis, bringing the sensitivity and specificity of these tests to 100%. The best discrimination was obtained with methods in which fibrin formation is triggered by the addition of activated factor X or Russell viper venom. In conclusion, this study provides evidence that some coagulation tests are able to distinguish carriers of the FV: Q506 mutation from non-carriers as well as the DNA test. They are inexpensive and easy to perform. Their use in large-scale clinical trials should be of help to determine the medical and economic benefits of screening healthy individuals for the mutation before they are exposed to such risk factors for venous thrombosis as surgery, pregnancy and oral contraceptives.

Download Full-text

An overview of the current status and trends in the Breakthrough Designation, PRIME and SAKIGAKE expedited review programs

10.26226/morressier.5c377885f0ad58000b0d399c ◽

2019 ◽

Author(s):

Pedro Borga

Keyword(s):

Current Status ◽

Status And Trends ◽

Breakthrough Designation

Download Full-text

Faculty Opinions recommendation of Next-generation stool DNA test accurately detects colorectal cancer and large adenomas.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.13960967.15418068 ◽

2012 ◽

Author(s):

Ma Somsouk

Keyword(s):

Colorectal Cancer ◽

Next Generation ◽

Dna Test ◽

Stool Dna

Download Full-text

The Reproductive State

10.1093/oso/9780199474363.003.0005 ◽

2018 ◽

Author(s):

Anindita Majumdar

Keyword(s):

Birth Certificate ◽

Parallel Process ◽

Reproductive State ◽

Surrogate Mother ◽

Foreign Nationals ◽

Dna Test ◽

Commercial Surrogacy ◽

International Laws

The birth of the child in transnational commercial surrogacy leads to a protracted process of staking claim. In this chapter, the focus is especially on the national and international laws that are invoked by foreign parents and foreign consulates to grant citizenship to the newborn. The applications for citizenship from their home countries, and the exit visa from India lead to many processes of bureaucratic verification and authentication of the genetic tie between the child and the intended parent(s) and the surrogate mother. Seeking identity here are both the new parents and the newborn. Through the birth certificate and the DNA test paternity is identified, while a parallel process seeks to ascertain maternity through the surrogate mother—who incidentally has rejected her tie to the newborn as part of the contractual requirements! Through the narratives of three foreign nationals navigating the citizenship process—international laws regarding surrogacy, kinship and citizens are analysed.

Download Full-text

Visual inspection vs HPV DNA test: finding cost-effective options for cervical cancer screening in women living with HIV in Burkina Faso

PharmacoEconomics & Outcomes News ◽

10.1007/s40274-021-7646-7 ◽

2021 ◽

Vol 876 (1) ◽

pp. 32-32

Keyword(s):

Cervical Cancer ◽

Cancer Screening ◽

Visual Inspection ◽

Cost Effective ◽

Dna Test ◽

Hpv Dna ◽

Women Living With Hiv ◽

Living With Hiv ◽

Test Finding ◽

Hpv Dna Test

Download Full-text

Cross-sectional adherence with the multi-target stool DNA test for colorectal cancer screening in a large, nationally insured cohort

International Journal of Colorectal Disease ◽

10.1007/s00384-021-03956-0 ◽

2021 ◽

Author(s):

Lesley-Ann Miller-Wilson ◽

Lila J Finney Rutten ◽

Jack Van Thomme ◽

A Burak Ozbay ◽

Paul J Limburg

Keyword(s):

Colorectal Cancer ◽

National Sample ◽

Adherence Rate ◽

Average Risk ◽

Cross Sectional ◽

Commercial Insurance ◽

Dna Test ◽

Crc Screening ◽

Stool Dna ◽

Insured Patients

Abstract Purpose Colorectal cancer (CRC) is the second most deadly cancer in the USA. Early detection can improve CRC outcomes, but recent national screening rates (62%) remain below the 80% goal set by the National Colorectal Cancer Roundtable. Multiple options are endorsed for average-risk CRC screening, including the multi-target stool DNA (mt-sDNA) test. We evaluated cross-sectional mt-sDNA test completion in a population of commercially and Medicare-insured patients. Methods Participants included individuals ages 50 years and older with commercial insurance or Medicare, with a valid mt-sDNA test shipped by Exact Sciences Laboratories LLC between January 1, 2018, and December 31, 2018 (n = 1,420,460). In 2020, we analyzed cross-sectional adherence, as the percent of successfully completed tests within 365 days of shipment date. Results Overall cross-sectional adherence was 66.8%. Adherence was 72.1% in participants with Traditional Medicare, 69.1% in participants with Medicare Advantage, and 61.9% in participants with commercial insurance. Adherence increased with age: 60.8% for ages 50–64, 71.3% for ages 65–75, and 74.7% for ages 76 + years. Participants with mt-sDNA tests ordered by gastroenterologists had a higher adherence rate (78.3%) than those with orders by primary care clinicians (67.2%). Geographically, adherence rates were highest among highly rural patients (70.8%) and ordering providers in the Pacific region (71.4%). Conclusions Data from this large, national sample of insured patients demonstrate high cross-sectional adherence with the mt-sDNA test, supporting its role as an accepted, noninvasive option for average-risk CRC screening. Attributes of mt-sDNA screening, including home-based convenience and accompanying navigation support, likely contributed to high completion rates.

Download Full-text

Relevance of the Pap Test: A Report of HPV-DNA Test-Negative High-Grade Squamous Intraepithelial Lesions of the Female Lower Genital Tract

Acta Cytologica ◽

10.1159/000448470 ◽

2016 ◽

Vol 60 (5) ◽

pp. 445-450 ◽

Cited By ~ 3

Author(s):

Yiang Hui ◽

Katrine Hansen ◽

Jayasimha Murthy ◽

Danielle Chau ◽

C. James Sung ◽

...

Keyword(s):

High Risk ◽

Pap Test ◽

Human Papillomaviruses ◽

High Grade ◽

Squamous Intraepithelial Lesions ◽

Cytologic Examination ◽

Dna Test ◽

Hpv Dna ◽

Intraepithelial Lesions ◽

Hpv Dna Test

Objective: A vast majority of cervicovaginal intraepithelial lesions are caused by high-risk human papillomaviruses (HPVs). The Pap test has been the sole method used for the screening of cervicovaginal squamous intraepithelial lesions (SIL). Recently, the FDA approved an HPV-DNA assay as a method of primary screening. We report on a series of FDA-approved HPV-DNA test-negative SIL with HPV genotyping, using an alternative method on the corresponding surgical biopsy specimens. Study Design: A retrospective review identified cytology-positive HPV-negative cases over a 15-month period at a tertiary care gynecologic oncology institution. Corresponding biopsies were reviewed and genotyped for high-risk HPVs. Results: Of the 18,200 total cases, 17 patients meeting the study criteria were selected with 27 surgical specimens corresponding to their cytologic diagnoses. Four patients with high-grade lesions were identified, 3 of whom (75%) were positive for HPV. One of these 4 patients (25%) showed high-grade SIL on biopsies from 4 separate sites in the cervix and vagina. Multiviral HPV infections were frequent. Conclusions: We discuss the relevance of cotesting for screening cervical SILs and emphasize that false-negative results are possible with the FDA-approved HPV screening assay, also in patients with high-grade SIL. These cases may be detectable by cytologic examination and this suggests that the Pap test remains an important diagnostic tool.

Download Full-text