The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.
The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.
Khoury
Muin J
MJ
Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA. mkhoury@cdc.gov
McBride
Colleen M
CM
Schully
Sheri D
SD
Ioannidis
John P A
JP
Feero
W Gregory
WG
Janssens
A Cecile J W
AC
Gwinn
Marta
M
Simons-Morton
Denise G
DG
Bernhardt
Jay M
JM
Cargill
Michele
M
Chanock
Stephen J
SJ
Church
George M
GM
Coates
Ralph J
RJ
Collins
Francis S
FS
Croyle
Robert T
RT
Davis
Barry R
BR
Downing
Gregory J
GJ
Duross
Amy
A
Friedman
Susan
S
Gail
Mitchell H
MH
Ginsburg
Geoffrey S
GS
Green
Robert C
RC
Greene
Mark H
MH
Greenland
Philip
P
Gulcher
Jeffrey R
JR
Hsu
Andro
A
Hudson
Kathy L
KL
Kardia
Sharon L R
SL
Kimmel
Paul L
PL
Lauer
Michael S
MS
Miller
Amy M
AM
Offit
Kenneth
K
Ransohoff
David F
DF
Roberts
J Scott
JS
Rasooly
Rebekah S
RS
Stefansson
Kari
K
Terry
Sharon F
SF
Teutsch
Steven M
SM
Trepanier
Angela
A
Wanke
Kay L
KL
Witte
John S
JS
Xu
Jianfeng
J
D023281:Genomics / Q000379:methods*; D006801:Humans; D033181:Information Dissemination / Q000379:methods*; D009316:National Institutes of Health (U.S.); D010548:Personal Health Services / Q000379:methods; D014481:United States