What is genomic medicine?
Keywords:Genomic Medicine, Precision Medicine, Gene Editing, CRISPR, Direct-to-Consumer Genetic Testing, Genetic Testing
AbstractGenomic medicine is rapidly changing the future of medicine. Medical librarians need to understand this field of research and keep current with its latest advancements. Even if they are not directly involved in genomic medicine, librarians can play an integral role by helping health care consumers and practitioners who may also need to expand their knowledge in this area. This article provides a basic introduction to genomic medicine, gives a brief overview of its recent advancements, and briefly describes some of the ethical, legal, and social implications of this emerging area of research and practice.
Khoury MJ. No shortcuts on the long road to evidence-based genomic medicine. JAMA. 2017 Jul 4;318(1):27–8. DOI: http://dx.doi.org/10.1001/jama.2017.6315.
Sharpe NF, Carter RF. Genetic testing: care, consent, and liability. Hoboken, NJ: Wiley-Liss; 2006. p. 22–3.
National Network of Libraries of Medicine. All of Us Community engagement network [Internet]. The Network [cited 5 Apr 2019]. <https://nnlm.gov/all-of-us>.
Bohle S. “Plutchik”: artificial intelligence chatbot for searching NCBI databases. J Med Libr Assoc. 2018 Oct;106(4):501–3. DOI: http://dx.doi.org/10.5195/jmla.2018.500.
Oliver JC. Bioinformatic training needs at a health sciences campus. PLOS ONE. 2017 Jun 14;12(6):e0179581.
Epstein HAB. Hospital library support of precision medicine. J Hosp Libr. 2016;16(4):287–98.
Catalano MM, Vaughn P, Been J. Using maps to promote data-driven decision-making: one library’s experience in data visualization instruction. Med Ref Serv Q. 2017 Oct–Dec;36(4):415–22.
Novelli G, Ciccacci C, Borgiani P, Papaluca Amati M, Abadie E. Genetic tests and genomic biomarkers: regulation, qualification and validation. Clin Cases Miner Bone Metab. 2008 May;5(2):149–54.
Hirsch ED Jr, Kett JF, Trefil J. Gene. In: The new dictionary of cultural literacy: what every American needs to know. Boston, MA: Houghton Mifflin; 2002.
Genetic Science Learning Center. Measuring gene expression [Internet]. Salt Lake City, UT: The Center; 15 Jul 2013 [cited 12 Dec 2018]. <https://learn.genetics.utah.edu/content/science/expression/>.
Alberts B, Johnson A, Lewis J, Raff M, Roberts K, Walter P. The structure and function of DNA. In: Molecular biology of the cell. 4th ed. New York, NY: Garland Science; 2002 [cited 11 Dec 2018]. <https://www.ncbi.nlm.nih.gov/books/NBK26821>.
National Human Genome Research Institute. Deoxyribonucleic acid (DNA) [Internet]. The Institute; 16 Jun 2015 [cited 11 Dec 2018]. <https://www.genome.gov/25520880/deoxyribonucleic-acid-dna-fact-sheet/>.
Science History Institute. James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin [Internet]. The Institute; 4 Dec 2017 [cited 10 Sep 2018]. <https://www.sciencehistory.org/historical-profile/james-watson-francis-crick-maurice-wilkins-and-rosalind-franklin>.
Alberts B, Johnson A, Lewis J, Raff M, Roberts K, Walter P. From DNA to RNA. In: Molecular biology of the cell. New York, NY: Garland Science; 2002. [cited 11 Dec 2018]. <https://www.ncbi.nlm.nih.gov/books/NBK26887>.
Lister Hill National Center for Biomedical Communications. What is a gene. In: Help me understand genetics: cells and DNA. Bethesda, MD: Genetics Home Reference; 2018. p. 11.
Mukherjee S. The gene: an intimate history. Scribner; 2017. p. 322–6.
National Institutes of Health. Human genome resources at NCBI [Internet]. National Center for Biotechnology Information [cited 5 Apr 2019]. <https://www.ncbi.nlm.nih.gov/projects/genome/guide/human/>.
National Library of Medicine. Bioinformatics and biology essentials for librarians: databases, tools, and clinical applications [Internet]. The Library [cited 5 Apr 2019]. <https://nnlm.gov/class/bioinformatics-and-biology-essentials-librarians-databases-tools-and-clinical-applications>.
Tsuchida J, Rothman J, McDonald KA, Nagahashi M, Takabe K, Wakai T. Clinical target sequencing for precision medicine of breast cancer. Int J Clin Oncol. 2019 Feb;24(2):131.
Sankar PL, Parker LS. The precision medicine initiative’s All of Us Research Program: an agenda for research on its ethical, legal and social issues. Genet Med. 2017 Jul;19(7):743–50.
Redman M, King A, Watson C, King D. What is CRISPR/Cas9. Arch Dis Child Educ Pract Ed. 2016 Aug;101(4):213–5.
Gupta SK, Shukla P. Gene editing for cell engineering: trends and application. Crit Rev Biotechnol. 2017 Aug;37(5):672–84.
Evans GA. Designer science and the ‘omic’ revolution. Nat Biotechnol. 2000 Feb;18(2):127.
Hudson K, Javitt G, Burke W, Byers P, American Society of Human Genetics Social Issues Committee. ASHG statement on direct-to-consumer genetic testing in the United States. Am J Hum Genet. 2007 Sep;81(3):635–7.
US Food & Drug Administration. FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss [Internet]. The Administration; 19 Dec 2017 [cited 10 Sep 2018]. <https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm589467.htm>.
Jung IY, Lee J. Unleashing the therapeutic potential of CAR-T cell therapy using gene-editing technologies. Mol Cells. 2018 Aug 31;41(8):717.
Nurses respond to “dynamic” education [drug news]. Nursing. 2017 Nov;47(11):9.
Upton J. Kymriah and Yescarta. Pharm Executive. 2018;38(5):18.
BBC News. Editing human embryos morally permissible [Internet]. BBC News; 17 Jul 2018 [cited 10 Sep 2018]. <https://www.bbc.com/news/health-44849034>.
Ewen C. UK scientists gain licence to edit genes in human embryos. Nature. 2016 Feb 4;530(7588):18.
National Academies of Sciences, Engineering, and Medicine. Second International Summit of Human Genome Editing: continuing the global discussion: proceedings of a workshop—in brief. Washington, DC: National Academies Press; 2019.
Kolata G, Belluck P. Why are scientists so upset about the first Crispr babies? [Internet]. N Y Times. 5 Dec 2018 [cited 12 Dec 2018]. <https://www.nytimes.com/2018/12/05/health/crispr-gene-editing-embryos.html>.
Stolberg SG. The biotech death of Jesse Gelsinger [Internet]. N Y Times Mag. 28 Nov 1999 [cited 10 Sep 2018]. <https://www.nytimes.com/1999/11/28/magazine/the-biotech-death-of-jesse-gelsinger.html>.
National Institutes of Health. Statement of modernizing human gene therapy oversight [Internet]. The Institutes; 16 Aug 2018 [cited 10 Sep 2018]. <https://www.nih.gov/about-nih/who-we-are/nih-director/statements/statement-modernizing-human-gene-therapy-oversight>.
Rutherford A. DNA ancestry tests may look cheap. but your data is the price, do customers realise that genetic genealogy companies like 23andMe profit by amassing huge biological datasets. London, England, UK: Guardian; 2018.