lunes, 1 de junio de 2020

Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women - PubMed

Genetic Testing May Help Reduce Breast Cancer Disparities for African American Women

Anne Marie McCarthy 1, Katrina Armstrong 2

Affiliations

PMID: 32427327
DOI: 10.1093/jnci/djaa042

'There Is a Lot of Good in Knowing, but There Is Also a Lot of Downs': Public Views on Ethical Considerations in Population Genomic Screening

Amelia K Smit 1 2 3, Gillian Reyes-Marcelino 2, Louise Keogh 4, Anne E Cust 2 3, Ainsley J Newson 5

Affiliations

PMID: 32434901
DOI: 10.1136/medethics-2019-105934

Abstract

Publics are key stakeholders in population genomic screening and their perspectives on ethical considerations are relevant to programme design and policy making. Using semi-structured interviews, we explored social views and attitudes towards possible future provision of personalised genomic risk information to populations to inform prevention and/or early detection of relevant conditions. Participants were members of the public (n=30) who had received information on their personal genomic risk of melanoma as part of a research project. The focus of the analysis presented here is participants' views regarding ethical considerations relevant to population genomic screening more generally. Data were analysed thematically and four key themes related to ethical considerations were identified: (i) personal responsibility for health: 'forewarned is forearmed'; (ii) perceptions of, and responses to, genetic fatalism; (iii) implications for parenting and reproduction; (iv) divided views on choosing to receive genomic risk information. Ethical considerations underlying these themes include the valorisation of information and choice, paternalism, non-directiveness and increasing responsibilisation of individuals in health and healthcare. These findings arguably indicate a thin public conceptualisation of population genomic testing, which draws heavily on how these themes tend to be described in existing social discourses. Findings suggest that further public engagement is required to increase complexity of debate, to consider (for example) the appropriate place of individual and social interests in population genomic testing. Further discernment of relevant ethical approaches, drawing on ethical frameworks from both public health and clinical settings, will also assist in determining the appropriate implementation of population genomic screening for complex conditions.

Keywords: ethics; genetic screening/testing; population policy; public health ethics.

Conflict of interest statement

Competing interests: None declared.

Genomic Sequencing Capacity, Data Retention, and Personal Access to Raw Data in Europe

Shaman Narayanasamy 1, Varvara Markina 1, Adrian Thorogood 2, Adriana Blazkova 1 3, Mahsa Shabani 4, Bartha M Knoppers 2, Barbara Prainsack 5 6, Robert Koesters 1

Affiliations

PMID: 32435258
PMCID: PMC7218066
DOI: 10.3389/fgene.2020.00303

Free PMC article

Abstract

Whole genome/exome sequencing (WGS/WES) has become widely adopted in research and, more recently, in clinical settings. Many hope that the information obtained from the interpretation of these data will have medical benefits for patients and-in some cases-also their biological relatives. Because of the manifold possibilities to reuse genomic data, enabling sequenced individuals to access their own raw (uninterpreted) genomic data is a highly debated issue. This paper reports some of the first empirical findings on personal genome access policies and practices. We interviewed 39 respondents, working at 33 institutions in 21 countries across Europe. These sequencing institutions generate massive amounts of WGS/WES data and represent varying organisational structures and operational models. Taken together, in total, these institutions have sequenced ∼317,259 genomes and exomes to date. Most of the sequencing institutions reported that they are able to store raw genomic data in compliance with various national regulations, although there was a lack of standardisation of storage formats. Interviewees from 12 of the 33 institutions included in our study reported that they had received requests for personal access to raw genomic data from sequenced individuals. In the absence of policies on how to process such requests, these were decided on an ad hoc basis; in the end, at least 28 requests were granted, while there were no reports of requests being rejected. Given the rights, interests, and liabilities at stake, it is essential that sequencing institutions adopt clear policies and processes for raw genomic data retention and personal access.

Keywords: ELSI; GDPR; NGS; patient rights; policies; procedures; raw; research participant rights.

Genomics & Precision Health Database| the Genomics & Health Impact Weekly Sca|PHGKB

Publication Date: May 28, 2020

Human Genomics across the Lifespan

Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update 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.

Coronavirus Disease Portal|Home|PHGKB

All Latest

Coronavirus Disease Portal|Home|PHGKB

Spotlight on COVID-19

Rapid and Inexpensive Whole-Genome Sequencing of SARS-CoV2 using 1200 bp Tiled Amplicons and Oxford Nanopore Rapid Barcoding
NE Freed et al, BIORXIV, May 29, 2020

Rapid and cost-efficient whole-genome sequencing of SARS-CoV-2, the virus that causes COVID-19, is critical for understanding viral transmission dynamics. Here we show that using a new multiplexed set of primers in conjunction with the Oxford Nanopore Rapid Barcode library kit allows for faster, simpler, and less expensive SARS-CoV-2 genome sequencing.

Seek COVER: Development and validation of a personalized risk calculator for COVID-19 outcomes in an international network
RD Williams et al, MEDRXIV, May 29, 2020

The study sought to develop and externally validate COVID-19 Estimated Risk (COVER) scores that quantify a patient's risk of hospital admission, requiring intensive services, or fatality in the 30-days following diagnosis. The design was a multinational, distributed network cohorts from 13 data sources and 6 countries, mapped to a common data model.

Recurrent Positive Reverse Transcriptase–Polymerase Chain Reaction Results for Coronavirus Disease 2019 in Patients Discharged From a Hospital in China
R Hu et al, JAMA Network Open May 28, 2020

On the basis of our follow-up results, 11 of 69 patients with COVID-19 showed positive RT-PCR results after discharge, which suggests that some recovered patients may still be virus carriers even after they reach the basic discharge criteria.

Doctors race to understand inflammatory condition in kids
JC Frankel, Science, May 29, 2020

Researchers are combing the blood and sequencing the genomes of patients—and the virus, if it can be isolated from them—to search for clues to what makes some children susceptible and how to head off the worst symptoms. There's hope that what's learned from young patients might help the many adults in whom COVID-19 also triggers overreaction of the immune system.