RT Book, Section
A1 Grebe, Stefan
A1 Calhoun, Amy R.U.L.
A2 Sarafoglou, Kyriakie
A2 Hoffmann, Georg F.
A2 Roth, Karl S.
SR Print(0)
ID 1140314516
T1 Introduction to Molecular Testing Including Exome/Genome Sequencing
T2 Pediatric Endocrinology and Inborn Errors of Metabolism, 2e
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9780071773140
LK accesspediatrics.mhmedical.com/content.aspx?aid=1140314516
RD 2024/04/19
AB Molecular  genetic  testing  is  a  key  tool  in  the  evaluation  of  patients  with  metabolic  and  endocrine  diseases.  The  three  most  serious  issues  that  must  be  considered  prior  to  undertaking  diagnostic  molecular  testing  are:  1)  selection  of  the  most  appropriate  test;  2)  correct  interpretation  of  test  results;  and  3)  cost,  stewardship,  and  appropriate  utilization  of  medical  resources.  Selection  of  the  most  appropriate  test  is  key  because  doing  this  mitigates  the  other  two  concerns.  The  physician  selecting  the  test  must  understand  the  sensitivity  and  specificity  of  the  selected  test  in  the  context  of  the  patient’s  findings.  Molecular  test  results  are  complex  and  require  significant  expertise  to  interpret.  A  provider  should  not  order  a  test  if  he  or  she  is  not  prepared  to  deal  with  all  possible  results  including  indeterminate  or  novel  results.  Furthermore,  although  the  cost  of  molecular  testing  is  rapidly  decreasing,  it  remains  expensive,  and  ordering  the  wrong  test  or  being  unable  to  interpret  test  results  will  lead  to  waste  of  healthcare  resources.