Results 31 to 40 of about 15,843,374 (297)

Secondary Findings of Newborn Screening

OBM Genetics, 2023
The aim of newborn screening (NBS) program is to detect and manage treatable conditions in the early stages prior to the occurrence of long-term and irreversible sequalae. Phenylketonuria was the first screened disorder, but panels rapidly expanded after
H. Alharbi, Miao He
semanticscholar   +1 more source

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List

Journal of Personalized Medicine, 2022
Clinical exome sequencing (CES) has shown great utility in the diagnosis of Mendelian disorders. CES can unravel secondary findings (SFs) unrelated to the primary diagnosis but with potential health implications.
Yingzhao Huang, Bowen Liu, Jile Shi, Sen Zhao, Kexin Xu, Liying Sun, Na Chen, W. Tian, Jianguo Zhang, N. Wu   +9 more
semanticscholar   +1 more source

Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach

Genetics in Medicine, 2022
Purpose: Patients undergoing clinical exome sequencing (ES) are routinely offered the option to receive secondary findings (SF). However, little is known about the views of individuals from underrepresented minority pediatric or prenatal populations ...
Shannon Rego, Hannah Hoban, S. Outram, Astrid N. Zamora, Flavia Chen, Nuriye N Sahin-Hodoglugil, B. Anguiano, Matthew Norstad, Tiffany Yip, B. Lianoglou, T. Sparks, M. Norton, B. Koenig, A. Slavotinek, Sara L. Ackerman   +14 more
semanticscholar   +1 more source

A systematic approach to the disclosure of genomic findings in clinical practice and research: a proposed framework with colored matrix and decision-making pathways

BMC Medical Ethics, 2021
Background Whether and how to disclose genomic findings obtained in the course of genomic clinical practice and medical research has been a controversial global bioethical issue over the past two decades.
Kenji Matsui, Keiichiro Yamamoto, Shimon Tashiro, Tomohide Ibuki   +3 more
doaj   +1 more source

A systematic literature review of disclosure practices and reported outcomes for medically-actionable genomic secondary findings

Genetics in Medicine, 2021
Secondary findings (SFs) are present in 1–4% of individuals undergoing genome/exome sequencing. A review of how SFs are disclosed and what outcomes result from their receipt is urgent and timely.
Julie C. Sapp, F. Facio, D. Cooper, K. Lewis, Emily W Modlin, Philip van der Wees, L. Biesecker   +6 more
semanticscholar   +1 more source

ClinGen’s Pediatric Actionability Working Group: Clinical Actionability of Secondary Findings from Genome-Scale Sequencing in Children and Adolescents

Genetics in Medicine, 2022
Purpose: Synthesis and curation of evidence regarding the clinical actionability of secondary findings from genome-scale sequencing are needed to support decision-making on reporting of these findings.
J. Hunter, Charisma L. Jenkins, Joanna E. Bulkley, Marian J Gilmore, Kristy Lee, Christine M. Pak, Kathleen E. Wallace, A. Buchanan, A. K. Foreman, Amanda S Freed, Scott Goehringer, Kandamurugu Manickam, N. Meeks, E. Ramos, Neethu Shah, R. Steiner, S. L. Subramanian, T. Trotter, Elizabeth M. Webber, Marc S. Williams, Katrina A. B. Goddard, B. Powell   +21 more
semanticscholar   +1 more source

Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency

Journal of Clinical Immunology, 2021
Newborn screening (NBS) for severe combined immunodeficiency (SCID) is based on the detection of T-cell receptor excision circles (TRECs). TRECs are a sensitive biomarker for T-cell lymphopenia, but not specific for SCID.
M. Blom, Ingrid Pico-Knijnenburg, S. Imholz, Lotte Vissers, Janika J. Schulze, Jeannette Werner, R. Bredius, M. van der Burg   +7 more
semanticscholar   +1 more source

Development of a novel measure of advanced cancer patients’ perceived utility of secondary germline findings from tumor genomic profiling

PEC Innovation, 2023
Objective: Tumor genomic profiling (TGP) can inform advanced cancer patients’ treatment decisions, and also reveal secondary germline findings—information about inherited risks for cancer and other disorders.
Jada G. Hamilton, Ibrahim H. Shah, Caroline Salafia, Elizabeth Schofield, Margaux Genoff Garzon, Kechna Cadet, Zsofia K. Stadler, Jennifer L. Hay, Kenneth Offit, Mark E. Robson   +9 more
doaj   +1 more source

From Targeting Somatic Mutations to Finding Inherited Cancer Predispositions: The Other Side of the Coin

Diagnostics, 2019
The expanding use of tumor genome analysis by next generation sequencing to drive target therapies has led to increased germline findings in genes predisposing to hereditary cancer.
Pascal Pujol, Thibault De La Motte Rouge, Frédérique Penault-Llorca   +2 more
doaj   +1 more source

Incidental and secondary findings in trio exome sequencing [PDF]

Genes and Diseases
Camille Cohen, Emeline Bellanger, Jeremie Mortreux, Laure Raymond, François Vialard, Rodolphe Dard   +5 more
doaj   +2 more sources