Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2023.10367
Abstract: Key Points Question What are the demographic characteristics of individuals participating in research on the personal utility of genetic and genomic testing? Findings In this systematic review of 52 studies with 13 251 eligible participants, sex… read more here.
Keywords: utility genetic; genomic testing; personal utility; genetic genomic ... See more keywords
Retrospective review of genomic testing in breast cancer: Does it improve outcome?
Sign Up to like & getrecommendations! Published in 2017 at "Breast Cancer Research and Treatment"
DOI: 10.1007/s10549-017-4154-3
Abstract: PurposeTumor genomic testing has become widely available in many clinical settings. However, we do not yet understand how to best harness the information yielded from this testing. We retrospectively investigated the clinical courses of 24… read more here.
Keywords: targeted therapy; genomic testing; breast cancer;
Personal Genomic Testing, Genetic Inheritance, and Uncertainty
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Bioethical Inquiry"
DOI: 10.1007/s11673-017-9816-7
Abstract: The case outlined below is the basis for the In That Case section of the “Ethics and Epistemology of Big Data” symposium. Jordan receives reports from two separate personal genomic tests that provide intriguing data… read more here.
Keywords: uncertainty; alzheimer disease; inheritance; personal genomic ... See more keywords
Clinical genomic testing: what matters to key stakeholders?
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0576-1
Abstract: Beyond a narrow focus on cost and outcomes, robust evidence of what is valued in genomic medicine is scarce. We gathered views on value from key stakeholders (clinical genomic staff, operational genomic staff and community… read more here.
Keywords: testing contexts; key stakeholders; clinical genomic; stakeholders clinical ... See more keywords
Genomic testing in premature ovarian insufficiency: proceed with caution
Sign Up to like & getrecommendations! Published in 2022 at "Biology of Reproduction"
DOI: 10.1093/biolre/ioac153
Abstract: Abstract Genomic testing has the potential to transform outcomes for women with infertility conditions, such as premature ovarian insufficiency (POI), with growing calls for widespread diagnostic use. The current research literature, however, often uses poor… read more here.
Keywords: genomic testing; premature ovarian; insufficiency proceed; testing premature ... See more keywords
Direct to consumer genetic and genomic testing with associated implications for advanced nursing practice
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the American Association of Nurse Practitioners"
DOI: 10.1097/jxx.0000000000000624
Abstract: ABSTRACT Direct-to-consumer genetic and genomic testing (DTCGT) has paved the way for consumers to gain information about their genetic makeup. Consumers may seek DTCGT to estimate ethnic background, identify genetic relations, or obtain raw DNA… read more here.
Keywords: consumer genetic; direct consumer; genetic genomic; genomic testing ... See more keywords
Genomic testing in pediatric epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a004135
Abstract: Genomic testing has become routine in the diagnosis and management of pediatric patients with epilepsy. In a single test, hundreds to thousands of genes are examined for DNA changes that may not only explain the… read more here.
Keywords: epilepsy; pediatric epilepsy; diagnosis; etiology ... See more keywords
A Practical Guide to Genetic Testing in Endocrinology.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical endocrinology"
DOI: 10.1111/cen.14596
Abstract: Rapid advances in sequencing technology have led to significant improvements in genomic analysis, resulting in increased understanding of the molecular basis of many endocrine conditions. Genomic testing for rare disease is being integrated into everyday… read more here.
Keywords: genetic testing; endocrinology; guide genetic; endocrinology practical ... See more keywords
Paediatric genomic testing: Navigating medicare rebatable genomic testing
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.15382
Abstract: Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams,… read more here.
Keywords: genetics; paediatric genomic; navigating medicare; genomic testing ... See more keywords
Donor and non‐donor perspectives on receiving information from routine genomic testing of donor blood
Sign Up to like & getrecommendations! Published in 2022 at "Transfusion"
DOI: 10.1111/trf.17215
Abstract: Genomic testing is already used by blood collection agencies (BCAs) to identify rare blood types and ensure the best possible matching of blood. With ongoing technological developments, broader applications, such as the identification of genetic… read more here.
Keywords: genomic testing; testing donor; donor; blood ... See more keywords
G256(P) What are the preferences for receiving additional and carrier status findings in genomics testing amongst families affected by rare conditions? Findings from the rare disease arm of the 100,000 genomes project at a specialised paediatric centre in the UK
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-rcpch.249
Abstract: Context Patients with certain rare diseases were invited to take part and have their genome sequenced alongside their relatives with the hope of finding the diagnosis as part of the 100,000 Genomes Project (100kGP). Apart… read more here.
Keywords: status findings; carrier status; additional carrier; genomic testing ... See more keywords