RT Book, Section
A1 Quillin, John M.
A1 Bodurtha, Joann
A1 Smith, Thomas J.
A2 Murray, Michael F.
A2 Babyatsky, Mark W.
A2 Giovanni, Monica A.
A2 Alkuraya, Fowzan S.
A2 Stewart, Douglas R.
SR Print(0)
ID 1102707758
T1 Genetic Assessment at the End of Life
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102707758
RD 2024/04/19
AB Prevalence  of  genetic  disease  at  the  end  of  life:Inherited  factors  contribute  about  20%  to  mortality  in  the  population.  About  5%  to  10%  of  common  causes  of  mortality,  such  as  cancer,  are  associated  with  strong  individual  genetic  risks  with  implications  for  surviving  family  members.Rationale  for  genetics  assessment:Current  genetic  tests  are  not  fully  clinically  sensitive  but  can  be  very  informative  for  breast,  ovary,  and  colorectal  cancers.  It  is  typically  most  useful  to  begin  testing  with  an  affected  family  member.  Once  affected  family  members  have  died,  opportunities  for  genetics  assessment,  or  obtaining  genetic  material  for  future  testing,  may  be  lost,  so  DNA  banking  may  be  a  viable  option.Options  for  genetics  assessment:Record  patient  and  family  history  that  may  be  relevant  for  genetic  history.  For  example,  “S-I-D-E”:  Similar  conditions  in  other  family  members,  Inherited  diagnoses  described  in  the  family,  Deaths  at  an  early  age,  and  Extreme  laboratory  values.  Collect  these  information  for  three  generations  of  relatives  on  both  the  maternal  and  paternal  sides  of  the  family.  Bank  DNA  for  patients  suspected  to  have  a  genetic  condition  and  consider  genetics  consultation  for  the  patient  and/or  family.  This  will  allow  future  testing  for  the  benefit  of  surviving  family  members.