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The therapeutic use of genomic sequencing creates novel and unresolved questions about cost, clinical efficacy, access, and the disclosure of sequencing results. The disclosure of the secondary results of sequencing poses a particularly challenging ethical problem. Experts disagree about which results should be shared and public input - especially important for the creation of disclosure policies - is complicated by the complex nature of genetics. Recognizing the value of deliberative democratic methods for soliciting informed public opinion on matters like these, we recruited participants from a clinical research site for an all-day deliberative democracy (DD) session. Participants were introduced to the clinical and ethical issues associated with genomic sequencing, after which they discussed the tradeoffs and offered their opinions about policies for the return of secondary results. Participants (n = 66; mean age = 57 (SD = 15); 70% female; 76% white) were divided into 10 small groups (5 to 8 participants each) allowing interactive deliberation on policy options for the return of three categories of secondary results: 1) medically actionable results; 2) risks for adult-onset disorders identified in children; and 3) carrier status for autosomal recessive disorders. In our qualitative analysis of the session transcripts, we found that while participants favored choice and had a preference for making information available, they also acknowledged the risks (and benefits) of learning such information. Our research reveals the nuanced reasoning used by members of the public when weighing the pros and cons of receiving genomic information, enriching our understanding of the findings of surveys of attitudes regarding access to secondary results.
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http://dx.doi.org/10.1007/s10897-017-0095-6 | DOI Listing |
Genet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
G3 (Bethesda)
September 2025
INRAE, UR629 URFM, Ecologie des Forêts Méditerranéennes, Site Agroparc, Domaine Saint Paul, F-84914 Avignon Cedex 9, France.
Symphonia globulifera (Clusiaceae) has emerged as a model organism in tropical forest ecology and evolution due to its significant ecological role and complex biogeographical history. Originating from Africa, this species has independently colonized Caribbean, Central and South America three times, becoming a key component of tropical ecosystems across these regions. Despite the ecological importance of S.
View Article and Find Full Text PDFFront Immunol
September 2025
Guangxi Key Laboratory of AIDS Prevention and Treatment & School of Public Health, Guangxi Medical University, Nanning, Guangxi, China.
Background: People living with HIV(PLWH) are a high-risk population for cancer. We conducted a pioneering study on the gut microbiota of PLWH with various types of cancer, revealing key microbiota.
Methods: We collected stool samples from 54 PLWH who have cancer (PLWH-C), including Kaposi's sarcoma (KS, n=7), lymphoma (L, n=22), lung cancer (LC, n=12), and colorectal cancer (CRC, n=13), 55 PLWH who do not have cancer (PLWH-NC), and 49 people living without HIV (Ctrl).
Front Immunol
September 2025
Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Background: Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disease caused by a gain-of-function mutation in the gene, which regulates inflammasome-mediated interleukin-1β (IL-1β) production. This leads to recurrent episodes of fever, rash, and arthritis, typically beginning in childhood.
Objective: To demonstrate the role of a missense mutation, c.
J Healthc Sci Humanit
January 2024
Assistant Professor & Clinical Coordinator, Health Informatics Program, School of Health Professions, State University of New York Downstate Health Sciences University, 450 Clarkson Avenue, MSC 94, Brooklyn, NY 11203, (718) 270-7738, Fax: (718) 270-7739 Email:
COVID-19 variants continue to infect thousands of people even though the end of the pandemic was announced on May 11, 2023. Nextstrain CoVariants (CoVariants) genomic databases provide detailed information about more than 31 variants of COVID-19 viruses that have been identified through genomic sequencing, showing the mutations they carry. Mutated viruses may yield a negative result for a gene target using a PCR test that has a positive COVID-19 test result.
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