A Story for the Masses: Precision Medicine (& Genetic Sequencing) and Why Knowledge is Power.
Yesterday, the New York Times published a post by Angelina Jolie Pitt. The film maker and UN special envoy spoke about her choice to have her ovaries and fallopian tubes removed last week, after a preventative double mastectomy two years ago.
Jolie-Pitt discovered a mutation on her BRCA1, a characteristic that according to the NHS, substantially raises a woman’s risk of cancer. For Jolie-Pitt, her chances for developing breast cancer were over 80%, and her chances of developing ovarian cancer were well over 50%.
With her celebrity status helping to garner attention, Jolie-Pitt’s initial and then latest Times articles have launched various socio-political issues inherent in genetic sequencing, personalized medicine, and preventative care into a trending public discourse.
What is significant about this? For the first time we see very clearly, and very publicly, how applied gene testing methods can help us make medical decisions. Angelina Jolie-Pitt’s conveyance of her very personal encounter with cancer dispels many notions of femininity, beauty, and privilege alongside clear advances in medicine.
Angelina has always been a polarizing figure; her public announcements of her medical conditions are no exception. However, regardless of how one positions her story, it is a very bold and very profound “They are just like us” narrative. Her story is a human story, but it is also Angelina Jolie-Pitt’s very personal story.
She inspired but cautioned, again in polarizing ways. This distant yet far too familiar occurrence of cancer or the threat of cancer hits the hearts and minds of many. Because of this nuviun took a closer look at the Jolie-Pitt’s numbers against more general statistics to illustrate the dimensions within risk profiles and the role technology plays in advancing precision medicine.
Access to and Use of Genetic Testing
New technologies like genetic sequencing enables better preventative options and treatment for cancer. Indeed, the importance in predicting and spotting cancer types is increasingly reliant on these new technologies.
Recently there are direct to consumer services where companies will read part or all of your DNA (even without regulatory approval). Cost reductions have improved access to genetic information; however, as became the case with 23andMe, what people do with or how people interpret that information becomes problematic without proper education for what the information actually represents.
One of the reasons for Angelina publicizing her story was to try to improve access to these sorts of tests. “The cost of testing for BRCA1 and BRCA2, at more than $3,000 in the United States, remains an obstacle for many women”, she wrote two years ago.
Below is an illustration of how the costs dropped for gene sequencing over the last decade (in US$).
Note: hover over it and see the costs appearing for each year.
Angelina Jolie Pitt’s initial announcement catalyzed a small and lasting wave in the number of women inquiring about preventative breast cancer surgery and BRCA1 and BRCA2 genetic testing.
According to one report from the Breast Research Cancer journal, the demand for genetic testing nearly doubled, and has remained elevated ever since, something called the “Angelina Jolie Effect.”
Not everyone is so fortunate
When looking at the list of countries with the highest incident rates of breast cancer, most of them are first world countries. This does not mean breast cancer only occurs in these countries; rather, it is more likely the case that the practice of detecting it in these countries is better. “The top 20 countries with the most breast cancer survivors” shows the number of breast cancer survivors who were alive five years after diagnosis.
Comparing the list of the top 20 countries of breast cancer survivors with the list of countries with the highest incidence rates for breast cancer, we find many of the leading developed countries on both lists.
Even amongst those countries that have highest records, and also best prevention and treatment options, rates of survival vary. One of the most obvious reasons for this variation is because each person has a different chemical and biological makeup, but also because each individual is at a different stage in her life, has a different diet, financial status, support network, or access to transportation. All of these have a huge bearing on survival outcomes.
As stated by most recent estimates, 55% to 65 % of women who carry a harmful BRCA1 mutation will develop breast cancer by the age of 70. Though this is high, having a double mastectomy to eradicate chances is not the only option. For Jolie Pitt, her family history increased those risks substantially. She lost her mother, aunt, and grandmother to cancer. As she writes in her most recent article, “I did not do this solely because I carry the BRCA gene mutation, and I want other women to hear this. A positive BRCA test does not mean a leap to surgery. I have spoken to many doctors, surgeons, and naturopaths. There are other options…The most important thing is to learn about the options and choose what is right for you personally.”
What’s the chance of getting breast or ovarian cancer with a BRCA mutation?
Cancer.gov in their BRCA1 fact sheet shares statistics that around 1.4% of women who will develop ovarian cancer in their lives. 39 percent of women who inherit a harmful BRCA1 mutation are expected to develop ovarian cancer by age 70. In Jolie Pitt’s latest post she writes that she was given a 50% risk profile that she would develop ovarian cancer. One or two women out of 100 will receive these outcomes.
This week, Pam Belluck published a piece in the New York Times where she analyzed Jolie Pitt’s medical decision making. She writes: “Cancer experts said Tuesday that the actress and filmmaker Angelina Jolie Pitt was wise to have had her ovaries and fallopian tubes removed last week because she carries a genetic mutation, BRCA1, that significantly increases the risk of ovarian cancer, a disease so difficult to detect that it is often found only at an advanced, untreatable stage".
Angelina Jolie Pitt writes that knowledge is power. Because of the results her genetic screening provided, she investigated and inquired differently - and was able to act - toward a solution to save her life, an option her mother never had. This defines the benefits of precision medicine. The National Academy of Sciences (NAS) defines it as “the use of genomic, epi-genomic, exposure, and other data to define individual patterns of disease, potentially leading to better individual treatment.” In the words of the NIH in the US, “it is a medical model that supports the customization of healthcare whereby medical decisions are tailored based on the individual characteristics of the patients, ranging from their genes to their lifestyle.”
Angelina’s results and then course of action are not like others with a BRCA1 or BRCA2 mutation. They are hers alone. Her genetic screening became an integral part of a comprehensive assessment of her best treatment options. A double mastectomy, and now a fallopian and ovary removal, were what was best for her.
A Geneticist Comments on Angelina Jolie Pitt's Case
A startup founder that understands the full potential of genetics in the context of precision medicine is Mark Bartlett, founder and Managing Director of Geneix in the UK.
The startup offers solutions to adverse drug reactions using novel pharmacogenetic analytical software. Bartlett talked to us about the Angelina Jolie Pitt’s case and its impact. Bartlett says “It’s the first public announcement of how genetics can help people understand their disease risk and take actions on how to deal with this to preempt any horrible disease manifesting the future.”
US President Barack Obama announced the launch of a precision medicine initiative in his 2015 State of the Union address. Dr. Francis S. Collins writes in a post for New England Journal of Medicine about how he hopes to support the initiative by assembling over 1 million Americans volunteers to participate in this research. It will provide researchers with various types of data (DNA, behavioral data, and electronic health records).
However, as support for more research launches deeper and broader investigation into precision medicine, considerations for how people armed with this new knowledge direct their actions is critical. Genetic sequencing is indeed accurate and highly personal, but it is not meant to be a one-stop shop for a treatment plan. It is not meant to be always diagnostic; it can also be indicative. With results like Jolie-Pitt received, she set in action a different sort of investigation towards very different ends. Knowledge is power, but it is important to recognize that there is no ceiling to that knowledge. Being primed with one bit of information should empower and inspire investigation towards an accumulation of more. There are many factors to be assessed and considered before drastic surgical measures are attempted.