Genetics and Genomics: Precision Health in Pediatric Oncology

Author(s):  
Belinda N. Mandrell ◽  
Stacy Hines-Dowell ◽  
Masakazu Nishigaki
2020 ◽  
Vol 52 (3) ◽  
pp. 199-208
Author(s):  
Sarah Dewell ◽  
Karen Benzies ◽  
Carla Ginn

Precision health is the integration of personal genomic data with biological, environmental, behavioral, and other information relevant to the care of a patient. Genetics and genomics are essential components of precision health. Genetics is the study of the effects of individual genes, and genomics is the study of all the components of the genome and interactions between genes, environmental factors, and other psychosocial and cultural factors. Knowledge about the role of genetics and genomics on health outcomes has increased substantially since the completion of the human genome project in 2003. Insights about genetics and genomics obtained from bench science are now having positive clinical implications on patient health outcomes. Nurses have the potential to make distinct contributions to precision health due to their unique role in the health care system. In this article, we discuss gaps in the development of precision health in nursing and how nursing can expand the definition of precision health to actualize its potential. Precision health plays a role in nursing practice. Understanding this connection positions nurses to incorporate genetic and genomic knowledge into their nursing practice.


ASHA Leader ◽  
2011 ◽  
Vol 16 (9) ◽  
pp. 5-6
Author(s):  
Gail Padish Clarin
Keyword(s):  

2006 ◽  
Author(s):  
Kristina K. Hardy ◽  
Melanie J. Bonner ◽  
Katherine C. Hutchinson ◽  
Victoria W. Willard

2007 ◽  
Author(s):  
Stephen R. Lassen ◽  
Brent Collett ◽  
Stan Whitsett ◽  
Debra Friedman

2002 ◽  
Vol 19 (2) ◽  
pp. 72-73
Author(s):  
Jami S. Gattuso ◽  
Elizabeth A. Gilger ◽  
Georgette Chammas ◽  
Samuel Maceri ◽  
Nancy K. West ◽  
...  

Author(s):  
Yousef Binamer ◽  
Muzamil A. Chisti

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.


2016 ◽  
Vol 3 (1) ◽  
pp. 8-15
Author(s):  
T.T. Valiev ◽  
◽  
A.S. Levashov ◽  
E.R. Senzhapova ◽  
◽  
...  

Sign in / Sign up

Export Citation Format

Share Document