RT Book, Section
A1 Hogge, W. Allen
A2 South-Paul, Jeannette E.
A2 Matheny, Samuel C.
A2 Lewis, Evelyn L.
SR Print(0)
ID 1106852201
T1 Genetics for Family Physicians
T2 CURRENT Diagnosis & Treatment: Family Medicine, 4e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071827454
LK accessmedicine.mhmedical.com/content.aspx?aid=1106852201
RD 2024/04/16
AB A  common  misconception  in  the  medical  community  is  that  genetic  disorders  consist  of  a  collection  of  extremely  rare  conditions  that  are  seldom  relevant  to  day-to-day  clinical  practice.  In  fact,  essentially  every  medical  condition  affecting  humankind  has  at  least  some  genetic  component  to  its  etiology.  The  study  of  how  mutations  in  single  genes  cause  rare  disease  (genetics)  is  gradually  being  eclipsed  by  research  on  how  mutations  in  multiple  genes  interact  with  each  other  and  the  environment  to  result  in  health  and  disease  (genomics).  Knowledge  derived  from  genomic  discoveries  is  reshaping  the  underpinnings  of  much  of  medical  practice,  and  will  continue  to  do  so  for  decades  to  come.  At  a  practical  level,  recent  advances  have  taught  us  a  tremendous  amount  about  the  basis  of  common  conditions  such  as  diabetes,  heart  disease,  and  cancer.  This  new  knowledge  is  being  rapidly  translated  into  approaches  for  disease  risk  assessment,  prevention,  and  treatment.  Likewise,  the  study  of  how  genes  affect  drug  metabolism  (pharmacogenetics)  is  being  increasingly  used  to  inform  drug  prescribing  (see  Chapter  49).  Importantly,  primary  care  physicians  should  not  lose  sight  of  the  fact  that  so-called  rare  single-gene  disorders  collectively  represent  a  significant  proportion  of  pediatric  and  adult  illnesses.