We are about to see
how a confluence of major events over the past few weeks will change the future
of medicine.
When you combine the personal decision of one of the
most public figures of our era and a landmark decision by the Supreme Court,
you've got a recipe for big-time impact. Let me delve into the details a bit
more.
Angelina Jolie's May 14 op-ed entitled "My
Medical Choice" recapped why she had her BRCA genes sequenced, and why she
made the decision to undergo prophylactic bilateral mastectomy upon finding
that she carried a very high-risk mutation. Notably, the decisions were her own
-- to get the genes sequenced in the first place and then to make the call on
when and whether to undergo a major operation. If this isn't the exemplar of
"consumer-driven healthcare," then I don't know what is.
Ms. Jolie's health insurance may have covered the
nearly $4000 cost of the sequencing by Myriad Genetics, but for most people
with a single relative who had ovarian cancer, that would not be the case.
Given Myriad Genetics' monopoly on these genes until the recent Supreme Court
ruling, the expense level is noteworthy, because a whole genome sequence could
be done for less than that price. Furthermore, because of this monopoly, when she
found out that she had a mutation with an 87% risk of developing breast cancer,
she had no path of getting a second opinion -- which is what most people would
like to have before making a critical decision about surgery.
In a quick follow-up, the Supreme Court's June 13
ruling provided a new beginning for the BRCA story and for genetic testing in
general. Nature, which includes DNA, cannot be patented. The Myriad Genetics
monopoly of sequencing the BRCA genes was officially over. Within 24 hours, at least
10 companies announced that they would now offer sequencing of the BRCA genes,
and some for less than $1000. Not only does this open up access to the public
for the primary information, but also more informed decisions can be made if
results show a pathogenic mutation (or the absence of one but where there is
strong suspicion) -- checkpoints of getting a second opinion if necessary.
Unfortunately, there is one issue that was not
addressed and which will slow up progress: The Myriad database of the BRCA 1/2
sequencing data from millions of individuals, and in many cases their
relatives, will not be available. With tens of thousands of nucleotides in
these genes, any one of which can be a variant from the human reference genome,
this will lead to the fuzzy, uncertain molecular diagnosis of a "variant
of unknown significance" (VUS) in many individuals. A campaign known as
"Free the Data!!" has been mounted to collect the reports from
individuals who have been sequenced, which can be done anonymously. Collating
enough of such data will bootstrap the ability to decode many VUS calls in the
future. You certainly can help by encouraging patients to participate or by
directly contributing information.
Related to this challenge of sharing DNA data, on June
3 a global alliance for sharing genomic data was announced. Already 70
institutions from over 40 countries have signed on to participate, and this
represents yet another critical step forward in genomic medicine, transcending
the specific challenges related to BRCA 1/2.
Eric J. Topol, MD
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