We have argued that advances in genetic tests and analysis can result in advances in three areas:
1. Determining predispositions and the attempt to mitigate the disease states.
2. Determining the specific abnormality or malignancies and assessing treatment protocols accordingly.
3. The establishment of genetically oriented treatment methodologies.
However we are looking at two extreme situations:
First the understanding of basic genetic causes of disease inherited or set as a predisposition state. For example the heritability of Marfan or Huntington's. Also the predisposition for certain cancers.
Second, genetic changes in somatic cells to assess the state of a malignancy, such as breast cancer or prostate cancer.
The problem is twofold:
First we know some but hardly all genetically inheritable traits. In fact we are just starting to understand them. In a sense we are in year 1 of say a Framingham study for these issues and the time to determine what they are is lengthy.
Second, in the case of cancers, we need to understand the dynamics, and as recently shown in an earlier post from a NEJM article, the complexity of cancer genes from cell to cell is not understood.
The JAMA article states:
Several steps are needed to realize any potential beneficial effect of
genomics on the cost of health care. First, the development
of effective clinical decision support is needed so
that patients and clinicians use genomic test results appropriately.
Such
decision support already is available for several
tests and should become a US Food and Drug Administration requirement
for
the introduction of new targeted therapy with a
companion diagnostic test. Second, information systems need to be
adapted
so that genomic information can be stored efficiently
and accessed indefinitely. Given its rapidly declining cost,
whole-genome
sequencing is likely to become the dominant model for
germline genetic testing and can provide substantial efficiency assuming
that test results can be stored and reliably accessed
in the future. Third, professional and patient advocacy organizations
need to develop guidelines about how to manage genomic
information unrelated to the clinical question of interest, in order
to minimize the evaluation of clinically irrelevant
genetic variation and wasted health care dollars. Fourth, genomics can
only reduce costs if the aggregate cost of testing is
lower than the cost of the health care interventions that are used.
I would argue that there are many steps needed beyond these. First, most physicians lack a true understanding of these issues. For example as I have indicated a urologist may perform a prostate biopsy and find highly disseminate HGPIN and then 9 months later perform a saturation biopsy in anticipation of a malignancy and find none. Why? Surgeons generally do not ask those questions, for them the patient has become a lucky end point. But why? What has genetically reversed what is assumed to be irreversible?
We need to establish large data bases readily accessible by professionals to be worked upon an jointly shared. Leverage of this type is essential. Closed data will result in slow progress, open and shared data is essential.
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