lunes, 1 de junio de 2020

Advanced Molecular Detection Clips Database|AMD Clips|PHGKB

Publication Date: May 28, 2020

Advanced Molecular Detection Clips Content

NEWS

Case clustering emerges as key pandemic puzzle
Kupferschmidt K. Science, May 22, 2020.
Close Genetic Relative of SARS-CoV-2 Found in Bats Offers More Evidence It Evolved Naturally
Cell Press, SciTechDaily, May 25, 2020.
Study tells "remarkable story?" about COVID-19's deadly rampage through a South African hospital
Nordling L. Science, May 25, 2020.
New research rewrites history of when Covid-19 took off in the US--and points to missed chances to stop it
Branswell H. STAT, May 26, 2020.
Wastewater testing gains traction as a Covid-19 early warning system
Begley S. STAT, May 28, 2020.

EVENTS / TRAINING / WEB RESOURCES

COVID-19
(research projects) DARPA, May 22, 2020.
Ten simple rules for making training materials FAIR.
Garcia Leyla et al. PLoS computational biology 2020 May (5) e1007854
TeSS: a platform for discovering life-science training opportunities.
Beard Niall et al. Bioinformatics (Oxford, England) 2020 May (10) 3290-3291
Wastewater Monitoring for COVID-19 Disease Surveillance
(recorded panel discussion) NASEM, May 27, 2020.

Note: indicates that at least one CDC-affiliated author; indicates that the article addresses aspects of implementation or evaluation in clinical or public health practice.

Disclaimer: Articles listed in the Advanced Molecular Detection Clips are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the clips does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

Evidenced-Based Screening Strategies for a Positive Family History - PubMed

Evidenced-Based Screening Strategies for a Positive Family History

Jennifer M Kolb 1, Dennis J Ahnen 2, N Jewel Samadder 3

Affiliations

PMID: 32439091
DOI: 10.1016/j.giec.2020.02.015

Abstract

The most commonly recognized high-risk group for colorectal cancer (CRC) is individuals with a positive family history. It is generally recognized that those with a first-degree relative (FDR) with CRC are at a 2-fold or higher risk of CRC or advanced neoplasia. FDRs of patients with advanced adenomas have a similarly increased risk. Accordingly, all major US guidelines recommend starting CRC screening by age 40 in these groups. Barriers to screening this group include patient lack of knowledge on family and polyp history, provider limitations in collecting family history, and insufficient application of guidelines.

Keywords: Advanced adenoma; Colon cancer screening; Colorectal cancer; First-degree relative; Second-degree relative.

Conflict of interest statement

Disclosure None.

Impacts of Genesurance Considerations on Genetic Counselors' Practice and Attitudes

Emily Thoreson 1 2, Lauren Murphy 1 3, Jennifer Lemons 1 4, Laura Farach 1 4, Kate Wilson 5, Ashley Woodson 1 6, Chelsea Wagner 1 3

Affiliations

PMID: 32432815
DOI: 10.1002/jgc4.1291

Abstract

Genesurance counseling has been identified as an integral part of many genetic counseling sessions, but little is known about the workflow impacts and genetic counselor perceptions of genesurance-related tasks. In this study, we aimed to characterize how insurance and billing considerations for genetic testing are being incorporated into genetic counselors' practice in the United States, as well as describe current attitudes and challenges associated with their integration. An electronic survey was sent by email to members of the National Society of Genetic Counselors (NSGC). A total of 325 American Board of Genetic Counselors-certified genetic counselors who provide direct patient care in the United States for at least 50% of their time were included in data analysis. Results showed that the frequency and timing of various insurance- and billing-related tasks were not consistent among respondents, even those practicing in similar settings. Inadequate training to complete tasks was reported by 64% of respondents, and 47% reported a lack of resources from their employer and/or institution to complete genesurance tasks. Additionally, only 38% of respondents agreed that insurance- and billing-related tasks were within the scope of the genetic counseling practice, and there was little consensus on who respondents believe is the most appropriate person to complete these tasks. When asked how genesurance considerations affected job satisfaction, 85% of respondents reported a negative impact. This study found an inconsistent genesurance workflow among genetic counselors practicing in the United States, a lack of consensus on who should be responsible for genesurance tasks, several challenges associated with completing these tasks, and identifies genesurance considerations as potential risk factors for genetic counselor burnout.

Keywords: billing issues; genesurance; genetic counseling; genetic counselor workflow; genetic testing; insurance issues.

A Scenario-Based Methodology for Analyzing the Ethical, Legal, and Social Issues in Genomic Data Sharing

Rebekah McWhirter 1, Lisa Eckstein 1, Don Chalmers 1, Christine Critchley 1 2, Jane Nielsen 1, Margaret Otlowski 1, Dianne Nicol 1

Affiliations

PMID: 32425102
DOI: 10.1177/1556264620920460

Abstract

Sharing of genomic and associated data is essential to clinical practice and biomedical research, and is increasingly encouraged by journals and funding bodies. Grappling with the range of legal and ethical issues raised by genomic data sharing presents a significant challenge, given the diversity of practices: from defined sharing of individual patient data, to broad-scale public sharing of research data, to uploading of direct-to-consumer test data by community members. Most commentary to date has discussed these issues in broad terms, but the debate can only progress if we engage with more granularity, grounded in jurisdictional and contextual specifics. We developed an empirical approach, creating a set of prototypical scenarios that capture the diversity of current genomic data sharing practices, which allows legal and ethical analysis of key issues at a granular level. The specificity of this approach provides a strong foundation for developing useful and relevant regulatory recommendations.

Keywords: ELSI; data sharing; ethics; genomics; law.