Impacts of personal DNA ancestry testing
Tóm tắt
Consumer uptake of direct-to-consumer (DTC) DNA ancestry testing is accelerating, yet few empirical studies have examined test impacts on recipients despite the DTC ancestry industry being two decades old. Participants in a longitudinal cohort study of response to health-related DTC genomic testing also received personal DNA ancestry testing at no additional cost. Baseline survey data from the primary study were analyzed together with responses to an additional follow-up survey focused on the response to ancestry results. Ancestry results were generated for 3466 individuals. Of those, 1317 accessed their results, and 322 individuals completed an ancestry response survey, in other words, approximately one in ten who received ancestry testing responded to the survey. Self-reported race/ethnicity was predictive of those most likely to view their results. While 46% of survey responders (N = 147) reported their ancestry results as surprising or unexpected, less than 1% (N = 3) were distressed by them. Importantly, however, 21% (N = 67) reported that their results reshaped their personal identity. Most (81%; N = 260) planned to share results with family, and 12% (N = 39) intended to share results with a healthcare provider. Many (61%; N = 196) reported test benefits (e.g., health insights), while 12% (N = 38) reported negative aspects (e.g., lack of utility). Over half (N = 162) reported being more likely to have other genetic tests in the future. DNA ancestry testing affected individuals with respect to personal identity, intentions to share genetic information with family and healthcare providers, and the likelihood to engage with other genetic tests in the future. These findings have implications for medical care and research, specifically, provider readiness to engage with genetic ancestry information.
Tài liệu tham khảo
Bader AC, Malhi RS (2015) Case study on ancestry estimation in an Alaskan native family: identity and safeguards against reductionism. Hum Biol 87(4):338–351
Blanchard JW, Tallbull G, Wolpert C, Powell J, Foster MW, Royal C (2017) Barriers and strategies related to qualitative research on genetic ancestry testing in indigenous communities. Journal of Empirical Research on Human Research Ethics 12(3):169–179
Blanchard JW, Outram S, Tallbull G, Royal CD, Leroux D, Lund J et al (2019) We Don’t need a swab in our mouth to prove who we are. Curr Anthropol 60(5):000–000
Blell M, Hunter M (2019) Direct-to-consumer genetic testing’s red herring:“genetic ancestry” and personalized medicine. Frontiers in medicine 6
Bloss CS, Ornowski L, Silver E, Cargill M, Vanier V, Schork NJ, Topol EJ (2010) Consumer perceptions of direct-to-consumer personalized genomic risk assessments. Genetics in Medicine. 12(9):556–566
Bloss CS, Schork NJ, Topol EJ (2011) Effect of direct-to-consumer genomewide profiling to assess disease risk. N Engl J Med 364(6):524–534
Bolnick DA (2008) Individual ancestry inference and the reification of race as a biological phenomenon. Revisiting race in a genomic age:70–85
Bolnick DA, Fullwiley D, Duster T, Cooper RS, Fujimura JH, Kahn J et al (2007a) Genetics. The science and business of genetic ancestry testing. Science 318(5849):399–400
Bolnick DA, Fullwiley D, Duster T, Cooper RS, Fujimura JH, Kahn J, Kaufman JS, Marks J, Morning A, Nelson A, Ossorio P, Reardon J, Reverby SM, TallBear K (2007b) The science and business of genetic ancestry testing. Science. 318(5849):399–400
Bowen S, Khoury M. Consumer genetic testing is booming: but what are the benefits and harms to individuals and populations? 2018
Brown K (2018). How DNA testing botched my family’s heritage, and probably yours, too. Gizmodo
Byrd WC, Hughey MW. Biological determinism and racial essentialism: the ideological double helix of racial inequality. SAGE Publications Sage CA: Los Angeles, CA; 2015
Clayton EW, Halverson CM, Sathe NA, Malin BA (2018) A systematic literature review of individuals’ perspectives on privacy and genetic information in the United States. PLoS One 13(10):e0204417
Damotte V, Zhao C, Lin C, Williams E, Louzoun Y, Madbouly A et al (2019) Multiple measures reveal the value of both race and geographic ancestry for self-identification. bioRxiv 2019:701698
DeFabio CR (2016) If you’re black, DNA ancestry results can reveal an awkward truth. In: Splinter News
Department of Justice US (2019). Forensic Genetic Genealogical Dna Analysis And Searching.
Dockser MA (2018) For some African-Americans, genetic testing reopens past wounds. In: The Wall Street Journal
Dorval M, Patenaude AF, Schneider KA, Kieffer SA, DiGianni L, Kalkbrenner KJ, Bromberg JI, Basili LA, Calzone K, Stopfer J, Weber BL, Garber JE (2000) Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. J Clin Oncol 18(10):2135–2142
Duisterhof M, Trijsburg RW, Niermeijer MF, Roos RA, Tibben A (2001) Psychological studies in Huntington’s disease: making up the balance. J Med Genet 38(12):852–861
Elliott C, Brodwin P (2002) Identity and genetic ancestry tracing. Bmj. 325(7378):1469–1471
Elo S, Kyngäs H (2008) The qualitative content analysis process. J Adv Nurs 62(1):107–115
Feero WG, Green ED (2011 Sep 07) Genomics education for health care professionals in the 21st century. JAMA. 306(9):989–990
Foeman A, Lawton BL, Rieger R (2015) Questioning race: ancestry DNA and dialog on race. Commun Monogr 82(2):271–290
Francke U, Dijamco C, Kiefer AK, Eriksson N, Moiseff B, Tung JY, Mountain JL (2013) Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing. PeerJ. 1:e8
Garrison NA (2018) Genetic ancestry testing with tribes: ethics, identity & health implications. Daedalus 147(2):60–69
Garrison NA, Bardill JD (2019) The ethics of genetic ancestry testing. A Companion to Anthropological Genetics:17–35
Gollust S, Gray S, Carere D, Koenig B, Lehmann L, McGuire A et al (2017) Consumer perspectives on access to direct-to-consumer genetic testing: role of demographic factors and the testing rxperience. Milbank Quarterly 95(2):291–318
Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD et al (2014) Social and behavioral research in genomic sequencing: approaches from the clinical sequencing exploratory research consortium outcomes and measures working group. Genetics in Medicine. 16(10):727–735
Greely HT (2008) Genetic genealogy: genetics meets the marketplace. Revisiting race in a genomic age.:215–234
Guerrini CJ, Robinson JO, Petersen D, McGuire AL (2018) Should police have access to genetic genealogy databases? Capturing the Golden State Killer and other criminals using a controversial new forensic technique. PLoS Biol 16(10):e2006906
Haeusermann T, Greshake B, Blasimme A, Irdam D, Richards M, Vayena E (2017a) Open sharing of genomic data: who does it and why? PLoS One 12(5):e0177158
Haeusermann T, Greshake B, Blasimme A, Irdam D, Richards M, Vayena E (2017b) Open sharing of genomic data: who does it and why? Plos One 12(5):e0177158
Hamilton JG, Abdiwahab E, Edwards HM, Fang M-L, Jdayani A, Breslau ES (2017) Primary care providers’ cancer genetic testing-related knowledge, attitudes, and communication behaviors: a systematic review and research agenda. J Gen Intern Med 32(3):315–324
Heine SJ (2017) DNA is not destiny: the remarkable, completely misunderstood relationship between you and your genes. WW Norton & Company
Helgadottir A, Manolescu A, Helgason A, Thorleifsson G, Thorsteinsdottir U, Gudbjartsson DF, Gretarsdottir S, Magnusson KP, Gudmundsson G, Hicks A, Jonsson T, Grant SFA, Sainz J, O’Brien SJ, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Levey AI, Abramson JL, Reilly MP, Vaccarino V, Wolfe ML, Gudnason V, Quyyumi AA, Topol EJ, Rader DJ, Thorgeirsson G, Gulcher JR, Hakonarson H, Kong A, Stefansson K (2006) A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat Genet 38(1):68–74
Hesman ST (2018) DNA testing can bring families together, but gives mixed answers on ethnicity. In: ScienceNews
Hirschman EC, Panther-Yates D (2008) Peering inward for ethnic identity: consumer interpretation of DNA test results. Identity: An International Journal of Theory and Research 8(1):47–66
Horowitz AL, Saperstein A, Little J, Maiers M, Hollenbach JA (2019) Consumer (dis-) interest in genetic ancestry testing: the roles of race, immigration, and ancestral certainty. New Genetics and Society 38(2):165–194
Hsieh H-F, Shannon SE (2005) Three approaches to qualitative content analysis. Qual Health Res 15(9):1277–1288
Jonassaint CR, Santos ER, Glover CM, Payne PW, Fasaye G-A, Oji-Njideka N, Hooker S, Hernandez W, Foster MW, Kittles RA, Royal CD (2010) Regional differences in awareness and attitudes regarding genetic testing for disease risk and ancestry. Hum Genet 128(3):249–260
Juengst ET (2004) FACE facts: why human genetics will always provoke bioethics. The Journal of Law, Medicine & Ethics 32(2):267–275
Khandaker T. (2018). Canada is using ancestry DNA websites to help deport people. Vice News
Kirkpatrick BE, Rashkin MD (2017) Ancestry testing and the practice of genetic counseling. J Genet Couns 26(1):6–20
Klimentidis YC, Miller GF, Shriver MD (2009) Genetic admixture, self-reported ethnicity, self-estimated admixture, and skin pigmentation among Hispanics and Native Americans. American Journal of Physical Anthropology: The Official Publication of the American Association of Physical Anthropologists 138(4):375–383
Lawton B, Foeman A (2017) Shifting winds: using ancestry DNA to explore multiracial individuals’ patterns of articulating racial identity. Identity. 17(2):69–83
Lee SS-J, Bolnick DA, Duster T, Ossorio P, TallBear K (2009) The illusive gold standard in genetic ancestry testing. Science. 325(5936):38–39
Libiger O, Schork NJ (2013) A method for inferring an individual’s genetic ancestry and degree of admixture associated with six major continental populations. Front Genet 3:322
Livingstone FB (1958) Anthropological implications of sickle cell gene distribution in West Africa 1. Am Anthropol 60(3):533–562
Macarthur D. 23andMe raises prices, splits its health and ancestry analyses. 2009
Mainous AG 3rd, Johnson SP, Chirina S, Baker R (2013) Academic family physicians’ perception of genetic testing and integration into practice: a CERA study. Fam Med 45(4):257–262
Marks J (2018) Genetic testing: when is information too much? Anthropol Today 34(2):1–2
Marshall E (2011) Human genome 10th anniversary. Waiting for the revolution. Science 331(6017):526–529
McDowell I (2006) Measuring health: a guide to rating scales and questionnaires. Oxford University Press, USA
Michie S, Bobrow M, Marteau TM (2001) Predictive genetic testing in children and adults: a study of emotional impact. J Med Genet 38(8):519–526
Mittos A, Blackburn J, de Cristofaro E (2018). “23andMe confirms: I’m super white”--analyzing Twitter discourse on genetic testing. arXiv preprint arXiv:180109946.
Mous SE, Schoemaker NK, Blanken LM, Thijssen S, van der Ende J, Polderman TJ et al (2017) The association of gender, age, and intelligence with neuropsychological functioning in young typically developing children: the generation R study. Appl Neuropsychol Child 6(1):22–40
Myerowitz R, Hogikyan ND (1986) Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. Science. 232(4758):1646–1648
National Institutes of Health Why are some genetic conditions more common in particular ethnic groups? In: Medicine USNLo (ed) Genetics Home Reference
Nelson A (2008) Bio science: genetic genealogy testing and the pursuit of African ancestry. Soc Stud Sci 38(5):759–783
Nelson SC, Yu J-H, Wagner JK, Harrell TM, Royal CD, Bamshad MJ (2018) A content analysis of the views of genetics professionals on race, ancestry, and genetics. AJOB empirical bioethics 9(4):222–234
Nixon R. DNA tests find branches but few roots. The New York Times; 2007
Parthasarathy S (2010) Assessing the social impact of direct-to-consumer genetic testing: understanding sociotechnical architectures. Genetics in Medicine 12(9):544–547
Petrone J. (2019). MyHeritage moves into health with new genetic testing offering, underscoring industry trend. Genome Web
Phillips AM (2016) Only a click away—DTC genetics for ancestry, health, love… and more: a view of the business and regulatory landscape. Applied & translational genomics 8:16–22
Ram N, Guerrini CJ, McGuire AL (2018) Genealogy databases and the future of criminal investigation. Science. 360(6393):1078–1079
Ramos E, Weissman SM (2018) The dawn of consumer-directed testing. American Journal of Medical Genetics Part C: Seminars in Medical Genetics: Wiley Online Library:89–97
Ramsey L (2019). Ancestry’s DNA test has traced the family histories of more than 15 million people. Now the genealogy giant plans to get into healthcare. Business Insider
Ray T. (2019). Ancestry begins genetic testing Services for Health. Genome Web
Regalado A (2018) 2017 was the year consumer DNA testing blew up. In: MIT Technology Review
Regalado A (2019) More than 26 million people have taken an at-home ancestry test. In: MIT Technology Review
Reich D (2018) How genetics is changing our understanding of ‘race’. In: The New York Times
Risch N, Burchard E, Ziv E, Tang H (2002) Categorization of humans in biomedical research: genes, race and disease. Genome biology 3(7) comment2007:1
Roberts WL (1986) Nonlinear models of development: an example from the socialization of competence. Child Dev 57:1166–1178
Roberts JS, Gornick MC, Carere DA, Uhlmann WR, Ruffin MT, Green RC (2017) Direct-to-consumer genetic testing: user motivations, decision making, and perceived utility of results. Public Health Genomics 20(1):36–45
Rodriguez G (2014) How genealogy became almost as popular as porn. In: Time
Roth WD, Ivemark B (2018) Genetic options: the impact of genetic ancestry testing on consumers’ racial and ethnic identities. Am J Sociol 124(1):150–184
Roth WD, Lyon K (2018) Genetic ancestry tests and race: who takes them, why, and how do they affect racial identities? In: Suzuki K, von Vacano D (eds) Reconsidering race: cross-disciplinary and interdisciplinary approaches. Oxford Press, New York, NY
Rotimi CN (2003) Genetic ancestry tracing and the African identity: a double-edged sword? Developing World Bioethics 3(2):151–158
Royal CD, Novembre J, Fullerton SM, Goldstein DB, Long JC, Bamshad MJ, Clark AG (2010) Inferring genetic ancestry: opportunities, challenges, and implications. Am J Hum Genet 86(5):661–673
Rubanovich CK, Cheung C, Mandel J, Bloss CS (2018) Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States. Hum Mol Genet 27(R2):R250–RR58
Rubin R, Dockser Marcus A (2019). IRS greenlights tax breaks for buyers of 23andMe genetic tests. The Wall Street Journal
Shim JK, Rab Alam S, Aouizerat BE (2018) Knowing something versus feeling different: the effects and non-effects of genetic ancestry on racial identity. New Genetics and Society. 37(1):44–66
Smart A, Bolnick DA, Tutton R (2017) Health and genetic ancestry testing: time to bridge the gap. BMC Med Genet 10(1):3
Stanek EJ, Sanders CL, Taber KA, Khalid M, Patel A, Verbrugge RR et al (2012) Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clin Pharmacol Ther 91(3):450–458
Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, Timmerman MM, Brody LC, Tucker MA (1997) The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336(20):1401–1408
Su Y, Howard HC, Borry P (2011) Users’ motivations to purchase direct-to-consumer genome-wide testing: an exploratory study of personal stories. Journal of Community Genetics 2(3):135–146
TallBear K (2013) Native American DNA: tribal belonging and the false promise of genetic science. U of Minnesota Press
Tate SK, Goldstein DB (2008) Will tomorrow’s medicines work for everyone. Revisiting race in a genomic age.:102–128
The American Society of Human Genetics (2008). The American Society of Human Genetics Ancestry Testing Statement.
Via M, Ziv E, Burchard EG (2009) Recent advances of genetic ancestry testing in biomedical research and direct to consumer testing. Clin Genet 76(3):225–235
Wagner JK, Weiss KM (2012) Attitudes on DNA ancestry tests. Hum Genet 131(1):41–56
Wagner JK, Cooper JD, Sterling R, Royal CD (2012) Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests. Genetics in Medicine. 14(6):586–593
Walajahi H, Wilson DR, Hull SC (2019) Constructing identities: the implications of DTC ancestry testing for tribal communities. Genetics in Medicine. 21(8):1744–1750
Wang C, Cahill TJ, Parlato A, Wertz B, Zhong Q, Cunningham TN, Cummings JJ (2018) Consumer use and response to online third-party raw DNA interpretation services. Molecular genetics & genomic medicine 6(1):35–43
What Census Calls Us (2015) A historical timeline. Pew Research Center
Wilkes MS, Day FC, Fancher TL, McDermott H, Lehman E, Bell RA, Green MJ (2017) Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. BMC medical education 17(1):163
Zhang S (2018) Your DNA is not your culture. In: The Atlantic