A letter from G. Bradley Schaefer, MD, FAAP, FACMG
Butterfly Effect Run
The recent advances in genetic testing technology have been literally explosive.
New testing modalities are being developed at an extremely rapid pace.
Literally, testing methods are in use now that were not available 10 months ago.
These new tests are proving invaluable in the practice of clinical genetics. Many
families simply have had no answers for their child’s problems – often going
decades searching for a diagnosis. The new tests that have been developed at
least triple the previous diagnostic yield (i.e. the ability to come up with an
answer). These are indeed exciting times when the cause of conditions like
autism, cognitive impairments, birth defects, neurologic problems and a host of
others can now be identified.
One of the limiting factors in these new testing methods is obtaining payment
coverage to perform the test. Many third party payers (including Medicaid) will
often not cover such testing. Because of the newness of these tests, many
payers will categorize these as ‘investigational’. As such many families who
would benefit from such testing are unable to access these tests due to inability
to pay. This is especially problematic in getting testing approved for unaffected
family members (such as parents) who are currently healthy but at risk for
developing problems down the road, or of being ‘carries’ of a genetic condition
in their child.
The funds raised for this purpose then will be used to pay for tests when a test
is indicated, but there is no alternative way to finance the test. This would be in
those situations where there is no third party payment, or other reasons the
family cannot afford the testing. (It is notable that these newer genetic tests can
be quite expensive – often several thousand dollars each. For some families,
even if there is third party coverage, the cost of the deductible or co-pay is still
prohibitive of getting the test performed)
Thus these funds will be used to help families get indicated testing that could
not otherwise be accomplished due to financial constraints. Funds from last
year’s event have already been used to help 3 families in this situation.
We are most grateful for such support, and pledge to use these funds