دورية أكاديمية

Words matter: The language of difference in human genetics.

التفاصيل البيبلوغرافية
العنوان: Words matter: The language of difference in human genetics.
المؤلفون: Cho MK; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA; Departments of Medicine and Pediatrics, Stanford University, Stanford, CA. Electronic address: micho@stanford.edu., Duque Lasio ML; Division of Genetics & Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO; Division of Laboratory and Genomic Medicine, Department of Pathology & Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., Amarillo I; Department of Pathology and Laboratory Medicine, Penn State College of Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, PA., Mintz KT; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA., Bennett RL; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA., Brothers KB; Norton Children's Research Institute Affiliated with the University of Louisville, Louisville, KY.
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Mar; Vol. 25 (3), pp. 100343. Date of Electronic Publication: 2022 Dec 15.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
أسماء مطبوعة: Publication: 2022- : [New York] : Elsevier
Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998-
مواضيع طبية MeSH: Genetic Research* , Publishing*, Humans ; Delivery of Health Care ; Gender Identity ; Human Genetics
مستخلص: Diversity, equity, and inclusion efforts in academia are leading publishers and journals to re-examine their use of terminology for commonly used scientific variables. This reassessment of language is particularly important for human genetics, which is focused on identifying and explaining differences between individuals and populations. Recent guidance on the use of terms and symbols in clinical practice, research, and publications is beginning to acknowledge the ways that language and concepts of difference can be not only inaccurate but also harmful. To stop perpetuating historical wrongs, those of us who conduct and publish genetic research and provide genetic health care must understand the context of the terms we use and why some usages should be discontinued. In this article, we summarize critiques of terminology describing disability, sex, gender, race, ethnicity, and ancestry in research publications, laboratory reports, diagnostic codes, and pedigrees. We also highlight recommendations for alternative language that aims to make genetics more inclusive, rigorous, and ethically sound. Even though norms of acceptable language use are ever changing, it is the responsibility of genetics professionals to uncover biases ingrained in professional practice and training and to continually reassess the words we use to describe human difference because they cause harm to patients.
Competing Interests: Conflict of Interest The authors declare no conflicts of interest.
(Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
References: Am J Public Health. 2017 Feb;107(2):e1-e8. (PMID: 28075632)
J Genet Couns. 2008 Oct;17(5):424-33. (PMID: 18792771)
Hastings Cent Rep. 2022 Mar;52 Suppl 1:S29-S31. (PMID: 35470881)
Genet Med. 2018 Feb;20(2):234-239. (PMID: 28749474)
J Pathol Inform. 2017 Oct 03;8:42. (PMID: 29114436)
J Clin Oncol. 2017 Jul 1;35(19):2203-2208. (PMID: 28368670)
J Pediatr Urol. 2017 Dec;13(6):608.e1-608.e8. (PMID: 28545802)
J Med Genet. 2006 Feb;43(2):133-7. (PMID: 15983021)
Genet Med. 2010 Oct;12(10):648-50. (PMID: 20733501)
J Genet Couns. 2022 Dec;31(6):1238-1248. (PMID: 36106433)
J Genet Couns. 2020 Jun;29(3):423-434. (PMID: 31710150)
Acad Med. 2020 Feb;95(2):184-189. (PMID: 31577586)
MedEdPORTAL. 2019 Dec 13;15:10861. (PMID: 32051844)
CMAJ. 2019 Jan 21;191(3):E63-E68. (PMID: 30665975)
JAMA. 2021 Aug 17;326(7):621-627. (PMID: 34402850)
AMA J Ethics. 2018 Dec 1;20(12):E1181-1187. (PMID: 30585582)
Soc Sci Med. 1999 Apr;48(8):977-88. (PMID: 10390038)
Nat Genet. 2003 Jun;34(2):119; discussion 120. (PMID: 12776106)
J Am Med Inform Assoc. 2022 Jan 12;29(2):354-363. (PMID: 34613410)
J Appl Lab Med. 2021 Jan 12;6(1):142-154. (PMID: 33236080)
Sci Technol Human Values. 2014 Jul 1;39(4):597-606. (PMID: 25684833)
Annu Rev Public Health. 2003;24:83-110. (PMID: 12668755)
J Genet Couns. 2020 Jun;29(3):435-439. (PMID: 32103563)
PLoS One. 2014 Sep 30;9(9):e108702. (PMID: 25268640)
Adv Med Educ Pract. 2018 May 21;9:377-391. (PMID: 29849472)
Paediatr Child Health. 2012 Feb;17(2):71-4. (PMID: 23372396)
Horm Res Paediatr. 2019;92(2):84-91. (PMID: 31509845)
J Am Med Inform Assoc. 2013 Jul-Aug;20(4):700-3. (PMID: 23631835)
Am J Hum Genet. 1961 Dec;13(4):426. (PMID: 17948460)
J Epidemiol Community Health. 2022 Jun 20;:. (PMID: 35725304)
Public Health Rep. 2022 Mar-Apr;137(2):317-325. (PMID: 34965776)
Clin Chim Acta. 2019 May;492:84-90. (PMID: 30771301)
Int J Mol Sci. 2022 Apr 12;23(8):. (PMID: 35457073)
Genet Med. 2013 Feb;15(2):95-102. (PMID: 22899092)
Transgend Health. 2019 Nov 21;4(1):335-338. (PMID: 31754631)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
Can Med Educ J. 2016 Oct 18;7(2):e121-e138. (PMID: 28344699)
Health Aff (Millwood). 2021 Feb;40(2):297-306. (PMID: 33523739)
Hum Genomics. 2022 May 19;16(1):18. (PMID: 35585650)
Genet Med. 2015 May;17(5):425-6. (PMID: 25356973)
Genet Med. 2021 Oct;23(10):1793-1806. (PMID: 34285390)
Front Sociol. 2022 Aug 23;7:946683. (PMID: 36081574)
PLoS One. 2020 Jul 1;15(7):e0234962. (PMID: 32609747)
N Engl J Med. 2016 Aug 18;375(7):655-65. (PMID: 27532831)
JAMA. 2004 Oct 6;292(13):1612-4. (PMID: 15467065)
Nat Med. 2021 Dec;27(12):2071-2073. (PMID: 34811548)
Int J Environ Res Public Health. 2021 Jun 19;18(12):. (PMID: 34205275)
BMC Med Educ. 2020 Feb 14;20(1):51. (PMID: 32059721)
J Community Genet. 2017 Oct;8(4):267-273. (PMID: 28755064)
Genet Med. 2017 Nov;19(11):1205-1206. (PMID: 28640245)
JAMA Health Forum. 2022 Feb 4;3(2):e220548. (PMID: 36218834)
Med Educ Online. 2021 Dec;26(1):1947172. (PMID: 34213397)
Cell Genom. 2022 Aug 10;2(8):. (PMID: 36119389)
Genome Biol. 2008;9(7):404. (PMID: 18638359)
Front Public Health. 2021 Feb 05;9:598455. (PMID: 33614579)
Adv Health Sci Educ Theory Pract. 2022 Aug;27(3):817-846. (PMID: 35412095)
N Engl J Med. 2020 Aug 27;383(9):874-882. (PMID: 32853499)
Disabil Health J. 2020 Jan;13(1):100844. (PMID: 31668781)
Acad Med. 2022 Dec 1;97(12):1847-1853. (PMID: 35703197)
SSM Popul Health. 2020 May 28;11:100608. (PMID: 32529022)
J Am Med Inform Assoc. 2022 Jan 12;29(2):271-284. (PMID: 34486655)
Health Aff (Millwood). 2022 Feb;41(2):187-194. (PMID: 35130059)
Surg Pathol Clin. 2022 Jun;15(2):421-434. (PMID: 35715169)
Contemp Clin Trials Commun. 2020 Jun 16;19:100597. (PMID: 32613134)
Arch Dis Child. 2006 Jul;91(7):554-63. (PMID: 16624884)
Transgend Health. 2019 Mar 01;4(1):68-80. (PMID: 30842978)
معلومات مُعتمدة: T32 HG008953 United States HG NHGRI NIH HHS
فهرسة مساهمة: Keywords: Disability; Equity; Inclusivity; Race and ethnicity; Sex and gender
تواريخ الأحداث: Date Created: 20221216 Date Completed: 20230308 Latest Revision: 20240302
رمز التحديث: 20240302
مُعرف محوري في PubMed: PMC9991958
DOI: 10.1016/j.gim.2022.11.011
PMID: 36524987
قاعدة البيانات: MEDLINE
الوصف
تدمد:1530-0366
DOI:10.1016/j.gim.2022.11.011