The Long Ride had help from an unexpected quarter this
week. As you may know one of the main
goals of our little venture is to raise funds for breast cancer research. This research looks particularly at risk
factors for breast cancer among Asians, especially cancer – predisposing genes,
the archetype of which are BRCA mutations. Our group was one of the first to report
these mutations in Asians and is in the process of estimating more precisely
just what risk these mutations confer to individuals. This data is crucial in helping patients who
undergo genetic testing decide just what they wish to do with this new genetic
information. Such calculation needs
large families with many cancers and many individuals, the affected and
unaffected, to provide their genetic material. Hence the international nature
of our collaborators and the need for substantial funding.
Before this week I knew little about Angelina Jolie outside
some of her roles in movies. Not one to follow the private lives of megastars,
her account of her bilateral prophylactic mastectomy (a preventive operation
that removed most of her breast tissue) led me to look things up. I now see
how much this very talented and remarkably attractive woman has done for the
most pitiable on this planet. The understated
way in which she shared her condition and how she dealt with it, in the
venerable New York Times no less, speaks volumes of how far she has come in
living with a proven BRCA1 mutation and taken action to optimize her chances of
survival.
If Facebook commentators are any thermostat of public
opinion, it would seem that this swings between the extremes –some say this is overkill and sending a
wrong message, others appreciate the courage of her actions and the heroism of
making a very private pain an extremely public matter. There are just two things about the New York
Times account that I think are worth highlighting. Ms Jolie does not have an 80% increased risk
of developing breast cancer in her lifetime; she has an over 80% absolute risk of the disease. Depending on the number of affective
relatives and the kind of mutation she has in the gene, that is what she lives
with – a breast cancer risk of 8/10, and not the 1/16 that faces the Singapore woman in general. That might make her decision easier to understand, although no
easier to make. The second issue I find even more extraordinary: following the timeline of her preparation for
surgery, a period most of our patients find impossibly difficult, a remarkable
public appearance was made on the second week of April. Ms Jolie addresses the G8 submit in London as
the UN’s Special Envoy for Refugees, applauding the decision of the G8 to have
war rape classified as a war crime. At
what must have been a very trying time for her and her family this lady spoke with
impeccable grace and moving eloquence on behalf of thousands that have no
voice. http://www.youtube.com/watch?v=TZFfI-n-WpA
This time however Ms Jolie has spoken for another group of women
who are silent sufferers. The women who
come from families with a cancer history that suggests the presence of an inherited genetic risk. It should be pointed out that these families
are rare; mutations at the BRCA1 and BRCA2 genes account for less than 7% if
all breast cancers. There are
nevertheless established indicators of which breast cancer patients should be
tested for mutations. Simply put, these
include those with breast cancer diagnosed under the age of 35 years, two
family members with breast cancer under 40 years or three family members of any
age from the same side of the family (maternal or paternal). (Dr Teo Soo Hwang
from Malaysia is credited with simple 3-2-1 aide
memoir) Women with breast and ovarian cancer in the same patient and men
with breast cancer should also be offered testing. At the National University Hospital we see
between five to ten of these women and men every year and genetic testing is
offered.
What might be surprising to some is that less than one in
five of those who qualify choose to undergo gene testing. There are several reasons for this. The nature of genetic testing is that we
treat not only individuals but families.
This seems to meet with much more difficulty in Singapore than it did in
the UK. Each individual who participates in genetic testing must think through
the consequences of the results. A sister or brother of a patient with cancer
and who is unaffected may discover through genetic testing that her chance of
breast cancer is now 50 – 99% , or worse he might discover the possibility that
the risk may have been transmitted to his children. Without the genetic knowledge they would have
gone on blissfully unaware. Now they
face a difficult decision of preventive surgery or closer surveillance, but
most of all the cancer anxiety that comes with knowing they have a much higher
chance of cancer than practically everyone they meet. Inflict this on someone who has almost
always seen the loss of a loved one through cancer, very likely at an
impressionable age, and it becomes clearer just what Ms Jolie has gone through.
Some members of our families have regretted this knowledge. The benefit of course is that a woman from a
family with a proven BRCA mutation may have found that she did not inherit the
gene and consequently cannot pass it to her children. To many women in these families with multiple
cancers their own cancer has often been a matter of when and not if. Their relief is one of the wonders of genetic
identifiers of risk. Without this genetic marker two sisters would have shared
the same family history and therefore the same calculated risk. The genetic
mutation is an individual marker of risk and not inheriting that marker is
freedom from that risk.
In Singapore we are lagging in making this information
available to the women who want it. Despite
the soul searching and familial difficulties that must be faced the most common
obstacle to gene testing in Singapore is the cost. The genetic test still costs
about 2000 USD and is not subsidized or payable by Medisave although I understand steps are being
taken to change this. An obstacle which
is harder to ovcercome is the insurance discrimination that follows those that
undergo genetic testing. Most insurance
agencies will refuse to cover anyone with a genetic disease in the family and
so this discrimination will follow not only patients and their relatives but
possibly their children as well. Hopefully this too will change. In the Netherlands genetic testing is free
and discrimination is banned. South
Korea has much the same arrangement. We
need to get on.
