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genome sequencing

Notes: - notes from earlier years may show progress in clinical implementation of whole genome sequencing - whole-genome sequencing in addition to standard family history of unclear value [2] - results of whole-genome sequencing initiate inappropriate clinical actions - the US National Institutes of Health (NIH) recently launched the All of Us initiative intended to bring gene sequencing technology to > 1 million people in the US [3] - strong buy-in by organizational leadership of integrating genome sequence data into health care may ultimately lead to improvements in population health [3] - development & implementation of population-scale clinical genome sequencing programs in health care systems present new opportunities for generation of robust evidence regarding the benefits, harms, & economic value associated with precision medicine [3] - potential exists for creation of new data sharing models across institutions, harmonization of data standards, & the development of novel, validated metrics for outcomes related to the application of precision medicine in populations [3]

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personalized medicine

Specific

Ashkenazi jewish genomic sequence analysis breast cancer-related disorders genomic sequencing fetal chromosomal aneuploid genomic sequencing hearing loss genomic sequencing hereditary colon cancer syndrome genomic sequencing lymphoid disorder genomic sequence analysis mitochondrially encoded genomic sequence panel neuroendocrine tumor genomic sequencing Noonan syndrome genomic sequence analysis retinal disorders genomic sequencing whole exome sequence analysis whole genome sequence analysis X-linked intellectual disability genomic sequence analysis

General

DNA (genetic) testing

References

  1. Dewey FE et al Clinical interpretation and implications of whole-genome sequencing. JAMA 2014 Mar 12; 311:1035. PMID: 24618965 - Feero WG. Clinical application of whole-genome sequencing: Proceed with care. JAMA 2014 Mar 12; 311:1017 PMID: 24618961
  2. Vassy JL, Christensen KD, Schonman EF et al The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. Ann Intern Med. June 27, 2017. PMID: 28654958 http://annals.org/aim/article/2633848/impact-whole-genome-sequencing-primary-care-outcomes-healthy-adult-patients - Manolio TA Incorporating Whole-Genome Sequencing Into Primary Care: Falling Barriers and Next Steps. Ann Intern Med. June 27, 2017. PMID: 28654971 http://annals.org/aim/article/2635325/incorporating-whole-genome-sequencing-primary-care-falling-barriers-next-steps
  3. Feero WG, Wicklund CA, Veenstra D. Precision Medicine, Genome Sequencing, and Improved Population Health. JAMA. Published online March 16, 2018. PMID: 29547675 https://jamanetwork.com/journals/jama/fullarticle/2675723