Inferring genetic ancestry: opportunities, challenges, and implications.
Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both the general and scientific communities. What do we mean by ancestry? How exactly is ancestry measured? How far back can such ancestry be defined and by which genetic tools? How do we validate inferences about ancestry in genetic research? What are the data that demonstrate our ability to do this correctly? What can we say and what can we not say from our research findings and the test results that we generate? This white paper from the American Society of Human Genetics (ASHG) Ancestry and Ancestry Testing Task Force builds upon the 2008 ASHG Ancestry Testing Summary Statement in providing a more in-depth analysis of key scientific and non-scientific aspects of genetic ancestry inference in academia and industry. It culminates with recommendations for advancing the current debate and facilitating the development of scientifically based, ethically sound, and socially attentive guidelines concerning the use of these continually evolving technologies.
Royal
Charmaine D
CD
Institute for Genome Sciences & Policy, Duke University, Durham, NC 27708, USA. charmaine.royal@duke.edu
Novembre
John
J
Fullerton
Stephanie M
SM
Goldstein
David B
DB
Long
Jeffrey C
JC
Bamshad
Michael J
MJ
Clark
Andrew G
AG
D005796:Genes; D036281:Genetic Research / Q000941:ethics*; D005820:Genetic Testing / Q000592:standards; D006801:Humans; D010361:Patients / Q000523:psychology*; D044465:White People / Q000235:genetics*
Genome Res. 2009 May;19(5):703-10
19411595
Science. 2009 May 22;324(5930):1035-44
19407144
Nature. 2009 Sep 17;461(7262):399-401
19684573
Nat Genet. 2008 Oct;40(10):1175-84
18794856
Dev World Bioeth. 2003 Dec;3(2):128-32
14768644
Genet Med. 2009 Aug;11(8):568-9
19606051
New Genet Soc. 2004 Apr;23(1):105-20
15470787
J Psychopharmacol. 2006 Jul;20(4 Suppl):19-26
16785266
Am J Hum Genet. 2000 Nov;67(5):1277-86
11032789
EMBO Rep. 2006 Nov;7(11):1072-4
17077861
Kidney Int. 2009 Apr;75(7):736-45
19177153
PLoS Biol. 2004 Oct;2(10):e286
15361935
BMC Biol. 2006 Oct 12;4:34
17038170
Genome Res. 2005 Nov;15(11):1496-502
16251459
Nature. 2009 Sep 24;461(7263):489-94
19779445
Annu Rev Genomics Hum Genet. 2007;8:1-15
17408354
Soc Sci Med. 2009 Mar;68(6):1183-90
19185964
Am J Hum Genet. 2008 Jan;82(1):81-7
18179887
Am J Phys Anthropol. 2009 May;139(1):47-57
19226645
Ann Hum Biol. 2005 Mar-Apr;32(2):154-62
16096211
Nat Rev Genet. 2005 Aug;6(8):623-32
16012528
Genome Res. 2007 Dec;17(12):1717-22
17978284
PLoS One. 2009 Sep 09;4(9):e6821
19742303
Eur J Hum Genet. 2008 Dec;16(12):1413-29
19020537
Science. 2008 Feb 22;319(5866):1100-4
18292342
Dev World Bioeth. 2003 Dec;3(2):142-50
14768646
Nature. 2004 Jul 29;430(6999):500-2
15282577
J Investig Med. 2010 Jan;58(1):11-8
20051768
Curr Opin Genet Dev. 2007 Jun;17(3):177-81
17466511
Nat Genet. 2005 Feb;37(2):177-81
15665825
Science. 2002 Apr 12;296(5566):261-2
11954565
Am J Hum Genet. 2004 May;74(5):827-45
15077202
Hum Genet. 2003 Apr;112(4):387-99
12579416
Nat Genet. 2004 Nov;36(11 Suppl):S8-12
15510102
Am J Hum Genet. 2000 Mar;66(3):979-88
10712212
Clin Genet. 2009 Sep;76(3):225-35
19793051
Nat Rev Genet. 2003 Aug;4(8):598-612
12897772
Int J Health Serv. 2006;36(3):557-73
16981631
Nat Genet. 2005 Oct;37(10):1113-8
16186815
Cancer Epidemiol Biomarkers Prev. 2008 Mar;17(3):471-7
18349264
Science. 2006 Jun 16;312(5780):1614-20
16778047
Med Anthropol. 2002 Jul-Dec;21(3-4):337-67
12458838
Science. 2009 Jul 3;325(5936):38-9
19574373
Obesity (Silver Spring). 2009 Jun;17(6):1226-31
19584881
Nature. 2008 Nov 6;456(7218):98-101
18758442
JAMA. 2005 Aug 24;294(8):937-46
16118384
Dev World Bioeth. 2003 Dec;3(2):159-69
14768648
J Am Stat Assoc. 2008 Mar 1;103(481):89-100
21572926
Obstet Gynecol. 2007 Dec;110(6):1392-5
18055737
Am J Hum Genet. 2003 Mar;72(3):717-21
12592608
Genome Res. 2009 May;19(5):795-803
19218534
Nat Genet. 2008 May;40(5):646-9
18425127
Am J Bioeth. 2009;9(6-7):3-10
19998099
J Law Med Ethics. 2007 Fall;35(3):412-24
17714251
Am J Phys Anthropol. 2009 May;139(1):5-15
19226644
Soc Stud Sci. 2008 Oct;38(5):759-83
19227820
Natl Vital Stat Rep. 2010 May;58(19):1-19
25075874
Curr Biol. 2008 Aug 26;18(16):1241-8
18691889
N Y Times Web. 2006 Apr 12;:A1, A17
16649273
Nat Rev Genet. 2004 Aug;5(8):598-609
15266342
Genome Med. 2009 Jan 21;1(1):8
19348695
PLoS Genet. 2006 Dec;2(12):e190
17194218
Dev World Bioeth. 2003 Dec;3(2):119-26
14768643
Am J Hum Genet. 2000 Feb;66(2):674-86
10677325
Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14068-73
16945910
Am J Hum Genet. 2005 Oct;77(4):676-80
16175514
Nat Genet. 2004 Nov;36(11 Suppl):S17-20
15507998
Science. 2007 Oct 19;318(5849):399-400
17947567
Hum Mutat. 2008 May;29(5):648-58
18286470
Genet Med. 2009 Oct;11(10):712-5
19745750
Nat Genet. 2006 Aug;38(8):904-9
16862161
Hum Biol. 2004 Feb;76(1):33-54
15222679
Genetics. 2000 Jun;155(2):945-59
10835412
Genome Res. 2009 Sep;19(9):1655-64
19648217
PLoS Genet. 2009 Oct;5(10):e1000686
19834557
Nature. 2008 Feb 21;451(7181):998-1003
18288195
Dev World Bioeth. 2003 Dec;3(2):151-8
14768647
Science. 2009 Oct 2;326(5949):30-1
19797633
Genome Res. 2009 May;19(5):838-49
19279335
Nat Rev Genet. 2004 Aug;5(8):611-8
15266343
BMC Med Genomics. 2009 May 22;2:29
19463148
Am J Hum Genet. 2000 Nov;67(5):1251-76
11032788
Hypertension. 1998 Nov;32(5):813-6
9822436
Genome Res. 2009 May;19(5):804-14
19265028
Am J Hum Genet. 2008 Mar;82(3):583-92
18313026
Nat Genet. 2007 Jun;39(6):770-5
17460697
Nature. 1998 Nov 5;396(6706):27-8
9817200
Nature. 2009 Jan 22;457(7228):380-1
19158772
Nature. 2004 Apr 1;428(6982):486
15057820
BMJ. 2002 Dec 21;325(7378):1469-71
12493671