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Practical considerations in genomic decision support: The eMERGE experience.
Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J. Herr TM, et al. J Pathol Inform. 2015 Sep 28;6:50. doi: 10.4103/2153-3539.165999. eCollection 2015. J Pathol Inform. 2015. PMID: 26605115 Free PMC article.
There is consensus in the literature that pharmacogenomics (PGx) may be an ideal starting point for real-world implementation, due to the presence of well-characterized drug-gene interactions. Clinical Decision Support (CDS) is an ideal avenue by which to implement …
There is consensus in the literature that pharmacogenomics (PGx) may be an ideal starting point for real-world implementation, due to the pr …
Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.
Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth R, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J. Rasmussen LV, et al. Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060. Appl Clin Inform. 2016. PMID: 27652374 Free PMC article.
OBJECTIVES: To understand opinions and perceptions on the state of information resources specifically targeted to genomics, and approaches to delivery in clinical practice. METHODS: We conducted a survey of genomic content use and its clinical delivery from r …
OBJECTIVES: To understand opinions and perceptions on the state of information resources specifically targeted to genomics, and appro …
Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates.
Ayres S, Gallacher L, Stark Z, Brett GR. Ayres S, et al. J Genet Couns. 2019 Apr;28(2):273-282. doi: 10.1002/jgc4.1086. Epub 2019 Jan 21. J Genet Couns. 2019. PMID: 30663825
This paper uses illustrative cases as the basis to describe and discuss the emerging role of genetic counselors in NICU multidisciplinary care teams and the challenges and considerations which arise when facilitating ultra-rapid genomic diagnoses in acutely u …
This paper uses illustrative cases as the basis to describe and discuss the emerging role of genetic counselors in NICU multidiscipli …
Seeking consent to genetic and genomic research in a rural Ghanaian setting: a qualitative study of the MalariaGEN experience.
Tindana P, Bull S, Amenga-Etego L, de Vries J, Aborigo R, Koram K, Kwiatkowski D, Parker M. Tindana P, et al. BMC Med Ethics. 2012 Jul 2;13:15. doi: 10.1186/1472-6939-13-15. BMC Med Ethics. 2012. PMID: 22747883 Free PMC article.
BACKGROUND: Seeking consent for genetic and genomic research can be challenging, particularly in populations with low literacy levels, and in emergency situations. ...Participants and staff seeking consent were less aware of the methodologies employed during geno
BACKGROUND: Seeking consent for genetic and genomic research can be challenging, particularly in populations with low literacy levels …
The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
Nguyen MT, Charlebois K. Nguyen MT, et al. Clin Genet. 2015 Oct;88(4):313-9. doi: 10.1111/cge.12546. Epub 2015 Jan 6. Clin Genet. 2015. PMID: 25421945 Review.
Ten semi-structured interviews were conducted with physicians with experience and familiarity with WES, and the major themes that emerged from our interviews were (i) the relevance of WES in diagnosing patients with rare diseases (appropriateness); (ii) the cost-eff …
Ten semi-structured interviews were conducted with physicians with experience and familiarity with WES, and the major themes that …
Negotiating desires and options: how mothers who carry the fragile X gene experience reproductive decisions.
Raspberry KA, Skinner D. Raspberry KA, et al. Soc Sci Med. 2011 Mar;72(6):992-8. doi: 10.1016/j.socscimed.2011.01.010. Epub 2011 Feb 3. Soc Sci Med. 2011. PMID: 21333433 Free PMC article.
However, genetic risk was not a primary consideration in the reproductive calculations of 22 women who chose to continue planned and unplanned unmediated pregnancies. Though women's reproductive negotiations are constrained by medical discourse and practices, …
However, genetic risk was not a primary consideration in the reproductive calculations of 22 women who chose to continue planned and …
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