Genetics assessment at the end of life: suggestions for implementation in clinic and future research.
BACKGROUND
Approximately 5%-10% of all cancers and cardiovascular diseases have a significant genetic component. Of the 15 most frequent admission diagnoses for palliative care, at least one third have a significant genetic component which is testable, informative, and potentially life saving to the survivors. Once the patient has died, the chance to test or bank DNA for common inherited conditions such as breast cancer, colon cancer, cardiovascular disease, etc., is gone.


OBJECTIVE
To determine the frequency of genetic conditions for commonly seen palliative care conditions, the availability of testing or DNA banking for future testing, and how genetics assessment is helpful.


METHODS
A case illustration and review of the currently published evidence.


RESULTS
Genetic testing fits the accepted model of family-centered palliative care, is ethical, and may lead to life-saving interventions. Risk assessment tools and helpful websites are available.


CONCLUSIONS
While common genetic conditions should be recognized before end-of-life care, the palliative care health professional may be the only person to recognize the condition before death of the patient and loss of available DNA.
Quillin
John Martin
JM
Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298-0033, USA. jquillin@mcvh-vcu.edu
Bodurtha
Joann N
JN
Smith
Thomas J
TJ
D004247:DNA / Q000032:analysis / Q000097:blood; D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006333:Heart Failure / Q000235:genetics*; D006801:Humans; D020300:Intracranial Hemorrhages / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics*; D010166:Palliative Care / Q000379:methods*; D013727:Terminal Care / Q000379:methods*
D004247:DNA