scholarly journals Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death

2015 ◽  
Vol 43 (3) ◽  
pp. 476-485 ◽  
Author(s):  
Laura M. Amendola ◽  
Martha Horike-Pyne ◽  
Susan B. Trinidad ◽  
Stephanie M. Fullerton ◽  
Barbara J. Evans ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Family Members ◽  
Research Participant ◽  
Informed Consent Process ◽  
Institutional Review Board ◽  
Test Results ◽  
Familial Colorectal Cancer ◽  
Institutional Review ◽  
Genomic Results ◽  
Disclosure Of Results

The incorporation of exome and genome sequencing into research and clinical practice raises the possibility of providing a range of genomic results to relatives in the event of the death of the research participant or patient. Genomic data can be of direct relevance to the medical care of relatives. However, some test subjects (e.g., cancer patients) are at higher risk of dying before they receive their test results and thus may not be able to share useful information with family members. We created an Institutional Review Board (IRB)-approved document with talking points on the possibility of disclosure of results to family members after an individual’s death to discuss during the informed consent process for genomic testing with participants in a study of exome sequencing in the context of familial colorectal cancer/polyposis.

scholarly journals Addressing Accessibility Issues in Institutional Review Board Policies

2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Meg Milligan ◽  
Suzanne Tew-Washburn ◽  
Kanessa Miller Doss ◽  
Joseph P. Giambrone
Keyword(s):  
Equal Opportunity ◽  
Keyword Search ◽  
Research Participant ◽  
The United States ◽  
Institutional Review Board ◽  
Institutional Review Boards ◽  
Educational Practices ◽  
Land Grant Universities ◽  
Institutional Review ◽  
Accessibility Issues

Legislation mandates addressing accessibility issues in educational practices to foster equal access for all students and faculty. Educational practices include research. Institutional Review Boards (IRBs) can contribute to equality in higher education by requiring equal opportunity for persons with different abilities to participate in or conduct research, an area overlooked by IRBs. We contend this is a legal and ethical responsibility under IRBs' protection from harm requirement as well as laws such as the Americans with Disabilities Act (ADA). A keyword search of the 55 original land grant universities in the United States' IRB policies and related documents produced no evidence of accessibility concerns for general research participant pools or researchers. Recommendations to correct this oversight and areas for further study are included.

scholarly journals Excretion of Methamphetamine and Amphetamine in Human Sweat Following Controlled Oral Methamphetamine Administration

2008 ◽  
Vol 54 (1) ◽  
pp. 172-180 ◽  
Author(s):  
Allan J Barnes ◽  
Michael L Smith ◽  
Sherri L Kacinko ◽  
Eugene W Schwilke ◽  
Edward J Cone ◽  
...  
Keyword(s):  
Institutional Review Board ◽  
Sweat Test ◽  
Test Results ◽  
Limit Of Quantification ◽  
Double Blind ◽  
Health Services Administration ◽  
Institutional Review ◽  
High Doses ◽  
Hair Testing ◽  
Oral Doses

Abstract Background: Understanding methamphetamine (MAMP) and amphetamine (AMP) excretion in sweat is important for interpreting sweat and hair testing results in judicial, workplace, and drug treatment settings. Methods: Participants (n = 8) received 4 10-mg (low) oral doses of sustained-release S-(+)-MAMP HCl (d-MAMP HCl) within 1 week in a double-blind, institutional review board–approved study. Five participants also received 4 20-mg (high) doses 3 weeks later. PharmChek sweat patches (n = 682) were worn for periods of 2 h to 1 week during and up to 3 weeks after dosing. The mass of MAMP and AMP in each patch was measured by GC-MS, with a limit of quantification of 2.5 ng/patch. Results: MAMP was measurable in sweat within 2 h of dosing. After low and high doses, 92.9% and 62.5% of weekly sweat patches were positive, with a median (range) MAMP of 63.0 (16.8–175) and 307 (199–607) ng MAMP/patch, respectively; AMP values were 15.5 (6.5–40.5) and 53.8 (34.0–83.4) ng AMP/patch. Patches applied 2 weeks after the drug administration week had no measurable MAMP following the low doses, and only 1 positive result following the high doses. Using criteria proposed by the Substance Abuse Mental Health Services Administration, 85.7% (low) and 62.5% (high) weekly sweat patches from the dosing week were positive for MAMP, and all patches applied after the dosing week were negative. Conclusions: These data characterize the excretion of MAMP and AMP after controlled MAMP administration and provide a framework for interpretation of MAMP sweat test results in clinical and forensic settings.

scholarly journals Oral Fluid Cannabinoids in Chronic, Daily Cannabis Smokers during Sustained, Monitored Abstinence

2011 ◽  
Vol 57 (8) ◽  
pp. 1127-1136 ◽  
Author(s):  
Dayong Lee ◽  
Garry Milman ◽  
Allan J Barnes ◽  
Robert S Goodwin ◽  
Jussi Hirvonen ◽  
...  
Keyword(s):  
Oral Fluid ◽  
Research Unit ◽  
Driving Under The Influence ◽  
Institutional Review Board ◽  
Test Interpretation ◽  
Test Results ◽  
Detection Rates ◽  
Institutional Review ◽  
Detection Window ◽  
Written Informed Consent

BACKGROUND Oral fluid (OF) is an accepted alternative biological matrix for drug treatment, workplace, and DUID (driving under the influence of drugs) investigations, but establishing the cannabinoid OF detection window and concentration cutoff criteria are important. METHODS Cannabinoid concentrations were quantified in OF from chronic, daily cannabis smokers during monitored abstinence. Δ9-tetrahydrocannabinol (THC)3, cannabidiol (CBD), cannabinol (CBN), and 11-nor-9-carboxy-THC (THCCOOH) were determined in daily OF samples collected with the Quantisal™ device. GC-MS limits of quantification (LOQ) were 0.5 μg/L for THC and CBD, 1 μg/L for CBN, and 7.5 ng/L for THCCOOH. RESULTS After providing written informed consent for this institutional review board–approved study, 28 participants resided from 4 to 33 days on the secure research unit and provided 577 OF specimens. At the LOQ, THC was generally quantifiable for 48 h, whereas CBD and CBN were detected only at admission. Median THCCOOH detection time was 13 days (CI 6.4–19.6 days). Mean THC detection rates decreased from 89.3% at admission to 17.9% after 48 h, whereas THCCOOH gradually decreased from 89.3% to 64.3% within 4 days. Criteria of THC ≥2 μg/L and THCCOOH ≥20 ng/L reduced detection to <48 h in chronic cannabis smokers. An OF THCCOOH/THC ratio ≤4 ng/μg or presence of CBD or CBN may indicate more recent smoking. CONCLUSIONS THC, THCCOOH, CBD, and CBN quantification in confirmatory OF cannabinoid testing is recommended. Inclusion of multiple cannabinoid cutoffs accounted for residual cannabinoid excretion in OF from chronic, daily cannabis smokers and could reduce the potential for positive test results from passive cannabis smoke exposure and lead to greatly improved test interpretation.

Comparison of Anti-Xa Activity in Patients Receiving Apixaban or Rivaroxaban

2017 ◽  
Vol 52 (3) ◽  
pp. 251-256 ◽  
Author(s):  
David A. Bookstaver ◽  
Kimberly Sparks ◽  
Brandon S. Pybus ◽  
Dustin K. Davis ◽  
Sean R. Marcsisin ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Serum Levels ◽  
Institutional Review Board ◽  
Test Results ◽  
Established Method ◽  
Once Daily ◽  
Institutional Review ◽  
Minimal Data ◽  
The Mean ◽  
The Difference

Background: There is no established method for monitoring the anticoagulant effects of apixaban and rivaroxaban. Linear correlation between serum levels and anti-Xa activity has been shown, with r2 ranging from 0.88 to 0.99. However, there are minimal data in patients receiving apixaban 5 mg twice daily or rivaroxaban 20 mg once daily. Objective: To evaluate the anti-Xa activity and serum levels at those doses and compare the trough anti-Xa activity. Methods: This was a single-center prospective study,approved by the institutional review board. Patients on an inappropriate dose or receiving an interacting drug were excluded. Blood samples were drawn 0.5 to 3 hours before a dose for both agents, 2 to 3 hours after an apixaban dose, and 12 to 16 hours after a rivaroxaban dose. Anti-Xa activity and serum levels were determined, and correlation was done via regression analysis. Trough anti-Xa activity was compared using a t-test. Results: The study enrolled 88 patients receiving each drug. The r2 values were 0.79 and 0.87 for apixaban and rivaroxaban, respectively. The mean trough anti-Xa activity was 1.79 ± 0.96 IU/mL for apixaban and 1.25 ± 0.88 IU for rivaroxaban ( P < 0.01). The trough sample was drawn a mean of 1.3 and 1.8 hours prior to the next dose for apixaban and rivaroxaban, respectively ( P < 0.01). Conclusions: Good correlation was shown between anti-Xa activity and serum levels. The clinical utility of monitoring anti-Xa activity and the significance of the difference in trough anti-Xa activity for these agents remains to be established.

scholarly journals The Impact of NORTH STAR on Suicidality, Substance Problems, Intimate Partner Violence, and Child Abuse

2020 ◽  
Author(s):  
Amy M Smith Slep ◽  
Richard E Heyman ◽  
Michael F Lorber ◽  
David J Linkh
Keyword(s):  
Intimate Partner Violence ◽  
Child Abuse ◽  
Air Force ◽  
Partner Violence ◽  
Absolute Risk ◽  
Intimate Partner ◽  
Institutional Review Board ◽  
Cross Sectional ◽  
Institutional Review ◽  
The Impact

Abstract Introduction We evaluated the effectiveness of New Orientation for Reducing Threats to Health from Secretive-problems That Affect Readiness (NORTH STAR), a community assessment, planning, and action framework to reduce the prevalence of suicidality, substance problems, intimate partner violence, and child abuse. Materials and Methods One-third of U.S. Air Force bases worldwide were randomly assigned to NORTH STAR (n = 12) or an assessment-and-feedback-only condition (n = 12). Two Air Force-wide, cross-sectional, anonymous, web-based surveys were conducted of randomly selected samples assessing risk/protective factors and outcomes. This study was reviewed and approved by the institutional review board at the investigators’ university and by the institutional review board at Fort Detrick. Results NORTH STAR, relative to control, bases experienced a 33% absolute risk reduction in hazardous drinking rates and cumulative risk, although, given the small number of bases, these effects were not statistically significant. Conclusions Given its relatively low cost, use of empirically supported light-touch interventions, and emphasis on sustainability with existing resources, NORTH STAR may be a useful system for prevention of a range of adult behavioral health problems that are difficult to impact.

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Emily Breidbart ◽  
Liyong Deng ◽  
Patricia Lanzano ◽  
Xiao Fan ◽  
Jiancheng Guo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Exome Sequencing ◽  
Large Scale ◽  
Age Of Onset ◽  
Family Members ◽  
Ethnically Diverse ◽  
Monogenic Diabetes ◽  
Diabetes Diagnosis ◽  
Pathogenic Variants ◽  
Atypical Diabetes

Abstract Objectives There have been few large-scale studies utilizing exome sequencing for genetically undiagnosed maturity onset diabetes of the young (MODY), a monogenic form of diabetes that is under-recognized. We describe a cohort of 160 individuals with suspected monogenic diabetes who were genetically assessed for mutations in genes known to cause MODY. Methods We used a tiered testing approach focusing initially on GCK and HNF1A and then expanding to exome sequencing for those individuals without identified mutations in GCK or HNF1A. The average age of onset of hyperglycemia or diabetes diagnosis was 19 years (median 14 years) with an average HbA1C of 7.1%. Results Sixty (37.5%) probands had heterozygous likely pathogenic/pathogenic variants in one of the MODY genes, 90% of which were in GCK or HNF1A. Less frequently, mutations were identified in PDX1, HNF4A, HNF1B, and KCNJ11. For those probands with available family members, 100% of the variants segregated with diabetes in the family. Cascade genetic testing in families identified 75 additional family members with a familial MODY mutation. Conclusions Our study is one of the largest and most ethnically diverse studies using exome sequencing to assess MODY genes. Tiered testing is an effective strategy to genetically diagnose atypical diabetes, and familial cascade genetic testing identified on average one additional family member with monogenic diabetes for each mutation identified in a proband.

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