|
|
A genetic test
is the analysis of human DNA, RNA, chromosomes, proteins, or certain
metabolites in order to detect alterations related to a heritable disorder.
This can be accomplished by directly examining the DNA or RNA that makes up
a gene (direct testing), looking at markers co-inherited with a
disease-causing gene (linkage testing), assaying certain metabolites
(biochemical testing), or examining the chromosomes (cytogenetic testing).
Although genetic testing shares some features in common with other kinds of
laboratory testing, in many ways it is unique and requires special
considerations.
Points to consider:
-
Genetic testing
may be used for medical management and for personal decision-making.
-
Genetic test
results usually apply not only to the patient but also to other family
members.
-
Genetic testing
may be performed in the context of a genetics consultation and should
include informed consent, test interpretation, and follow-up medical and
psychosocial services as indicated.
-
Because most
genetic disorders are rare, genetic testing is often done only by
specialized laboratories.
-
Intense research
efforts in molecular genetics result in the rapid development and
availability of new genetic tests; therefore, healthcare providers need to
continuously update their knowledge.
-
In order for
genetic testing to yield meaningful results:
-
multiple test
methodologies may be required
-
other family
members may need to be tested
-
a genetics
consultation may be appropriate
These services
will entail additional costs.
What is a Clinical Test?
Clinical tests are those in which specimens are examined and results
reported to the provider or patient for the purpose of diagnosis, prevention
or treatment in the care of individual patients.
Points to consider:
-
United States
laboratories performing clinical tests must be CLIA approved.
-
There is a
charge for clinical tests; cost varies by complexity.
-
Test results are
reported in writing.
-
The time between
specimen submission and reporting of results varies between laboratories and
may be based in part on the complexity of the testing.
What is a
Research Test?
Research tests are those in which specimens are examined for the purpose of
understanding a condition better, or developing a clinical test.
Points to consider:
-
Laboratories
performing research testing are not subject to CLIA regulation.
-
The cost of
research testing is generally covered by the researcher.
-
Test results are
generally not given to patients or their providers.
-
Rarely, a
research laboratory will, at the patient's request, share potentially useful
findings with a clinical laboratory so the patient's test results can be
confirmed and a formal report issued.
-
Requests for
participation in research may be denied, at the laboratory's discretion, if
the laboratory has sufficient samples or the family does not fit the
research project goals.
What is an
Investigational Test?
Investigational tests are deemed to be of value but not yet scientifically
valid or generally accepted by the medical community as accurate and useful.
Points to consider:
-
Test results may
or may not be shared, and it may be a long time before results are
available.
-
If test results
are shared with the provider or patient, the laboratory must be CLIA
approved.
-
There may or may
not be a cost for testing.
Reprinted
with permission from GeneTests.
|
 |
|
|
| |
The impact of a
disability can always be lessened to some degree by early intervention. |
|
 |
|
