TY - JOUR
T1 - Whole-Genome Sequencing in Healthy People
AU - Lindor, Noralane M.
AU - Thibodeau, Stephen N.
AU - Burke, Wylie
N1 - Publisher Copyright:
© 2016 Mayo Foundation for Medical Education and Research
PY - 2017/1/1
Y1 - 2017/1/1
N2 - Recent technological advances have radically changed genetic testing from an expensive and burdensome undertaking to a rapid and less costly option for many purposes. The utility of “next-generation” sequencing has been found to establish the diagnosis for hundreds of genetic disorders, to assess pharmacogenomic variants, and to identify treatable targets within malignant neoplasms. The ready availability of genomic information has led to the question of whether there would be clinical benefit of sequencing the genome of individuals who are not seeking a diagnosis, that is, genomic screening in generally healthy people, to provide anticipatory insights for their health care. Little research has been conducted in this area. We examine the considerable unresolved scientific and ethical issues encountered when considering whole-genome sequencing of healthy people.
AB - Recent technological advances have radically changed genetic testing from an expensive and burdensome undertaking to a rapid and less costly option for many purposes. The utility of “next-generation” sequencing has been found to establish the diagnosis for hundreds of genetic disorders, to assess pharmacogenomic variants, and to identify treatable targets within malignant neoplasms. The ready availability of genomic information has led to the question of whether there would be clinical benefit of sequencing the genome of individuals who are not seeking a diagnosis, that is, genomic screening in generally healthy people, to provide anticipatory insights for their health care. Little research has been conducted in this area. We examine the considerable unresolved scientific and ethical issues encountered when considering whole-genome sequencing of healthy people.
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U2 - 10.1016/j.mayocp.2016.10.019
DO - 10.1016/j.mayocp.2016.10.019
M3 - Review article
C2 - 28062062
AN - SCOPUS:85009110711
SN - 0025-6196
VL - 92
SP - 159
EP - 172
JO - Mayo Clinic proceedings
JF - Mayo Clinic proceedings
IS - 1
ER -