RT Book, Section
A1 Leonard, Claire O.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6728607
T1 Chapter 172. Principles of Care
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=6728607
RD 2023/06/04
AB The  contribution  of  genetic  variation  to  health  and  disease  has  become  increasingly  clear  as  a  result  of  our  burgeoning  understanding  of  the  human  genome.  Genomic  medicine  uses  an  understanding  of  the  individual’s  genetic  makeup  to  enhance  the  quality  of  medical  care,  including  presymptomatic  identification  and  prevention,  determination  of  susceptibility  to  disease,  selection  of  treatments,  and  individual  clinical  care  based  on  genotype.  Most  diseases  fall  somewhere  on  a  continuum  from  single-gene  disorders,  disorders  with  a  major  gene  effect,  disorders  with  complex  traits,  and  those  with  a  predominantly  environmental  causation.  The  majority  of  genetic  disorders  are  multisystemic  in  their  manifestations.  Most  children  with  special  health  care  needs  have  disorders  that  are  caused  by  mutations  in  single  genes  or  variations  in  chromosomes  or  that  are  heavily  influenced  by  genetic  factors.  Genetics  can  no  longer  be  considered  as  only  the  identification  of  rare  syndromes  and  inborn  errors  of  metabolism.  Care  for  the  child  with  a  genetic  disorder  involves  five  major  activities—suspicion,  diagnosis,  management,  genetic  counseling,  and  advocacy.  These  activities  require  a  partnership  between  the  pediatrician,  one  or  more  specialists  or  specialty  teams,  the  family,  and  schools  and  other  support  services.  No  physician  can  hope  to  recognize  and  personally  manage  all  genetic  disorders,  many  of  which  are  quite  rare.  Treatment  for  genetic  conditions  is  advancing  rapidly,  encompassing  much  more  than  the  supportive  care  previously  available.