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Elective genomic testing: Practice resource of the National Society of Genetic Counselors
被引:8
|作者:
Zawatsky, Carrie L. Blout
[1
,2
,3
,4
]
Bick, David
[5
]
Bier, Louise
[6
]
Funke, Birgit
[7
]
Lebo, Matthew
[2
,8
,9
,10
]
Lewis, Katie L.
[11
]
Orlova, Ekaterina
[12
]
Qian, Emily
[13
]
Ryan, Lauren
[14
]
Schwartz, Marci L. B.
[15
]
Soper, Emily R.
[16
,17
]
机构:
[1] Brigham & Womens Hosp, Genomes2People, 75 Francis St, Boston, MA 02115 USA
[2] Broad Inst, Med & Populat Genet, Cambridge, MA USA
[3] Ariadne Labs, Boston, MA USA
[4] MGH Inst Hlth Profess, Boston, MA USA
[5] Genom England Ltd, London, England
[6] Columbia Univ, Inst Genom Med, Irving Med Ctr, New York, NY USA
[7] Sema4, Stamford, CT USA
[8] Brigham & Womens Hosp, Dept Pathol, 75 Francis St, Boston, MA 02115 USA
[9] Harvard Med Sch, Dept Pathol, Cambridge, MA 02115 USA
[10] Mass Gen Brigham Personalized Med, Lab Mol Med, Boston, MA USA
[11] NIH, Ctr Precis Hlth Res, Bldg 10, Bethesda, MD 20892 USA
[12] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA USA
[13] Yale Univ, Dept Genet, New Haven, CT USA
[14] GRAIL LLC, Menlo Pk, CA USA
[15] Hosp Sick Children, Ted Rogers Ctr Heart Res, Cardiac Genome Clin, Toronto, ON, Canada
[16] Icahn Sch Med Mt Sinai, Inst Genom Hlth, New York, NY 10029 USA
[17] Icahn Sch Med Mt Sinai, Dept Med, New York, NY 10029 USA
关键词:
direct-to-consumer genetic testing (DTC);
genetic counseling;
genetic testing;
population screening;
predictive genetic testing;
DIRECT-TO-CONSUMER;
MEDICAL GENETICS;
AMERICAN-COLLEGE;
SECONDARY FINDINGS;
CLINICAL EXOME;
PRIMARY-CARE;
RISK;
CANCER;
RECOMMENDATIONS;
ASSOCIATION;
D O I:
10.1002/jgc4.1654
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic testing (EGT), is becoming more common. This type of testing has the potential to detect genetic conditions before there is a significant health impact permitting earlier management and/or treatment. Pre- and post-test counseling for EGT is similar to indication-based genetic testing. Both require a complete family and medical history when ordering a test or interpreting a result. However, EGT counseling has some special considerations including greater uncertainties around penetrance and clinical utility and a lack of published guidelines. While certain considerations in the selection of a high-quality genetic testing laboratory are universal, there are some considerations that are unique to the selection of a laboratory performing EGT. This practice resource intends to provide guidance for genetic counselors and other healthcare providers caring for adults seeking pre- or post-test counseling for EGT. Genetic counselors and other genetics trained healthcare providers are the ideal medical professionals to supply accurate information to individuals seeking counseling about EGT enabling them to make informed decisions about testing and follow-up.
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页码:281 / 299
页数:19
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