Category Archives: Suggested articles

Personalized medicine changing what it means to ‘do the best we can’ for patients

The Institute for Systems Biology in Seattle held a conference this week that focused on systems biology and cancer. Experts from all over the country were brought together  to share their work on how biological and clinical data derived from a single patient or big data derived from thousands of patients can be analyzed, integrated and, ultimately, used to treat that patient or others like him or her. The technological developments of the past decade and half allow us to generate large amounts of data from any given individual. These data include the individual’s genetic sequence, the levels of different genes being expressed in their cells, and other clinically relevant information. A big challenge for physicians is how to bring the benefits from these technological advances into the clinic to benefit patients.

During the conference, Dr. Tony Blau, a physician scientist from the University of Washington, described how having access to large amounts of data has changed what  ‘doing the best we can’ for a patient means since he first started treating cancer. He urged that it is time to bridge the enormous the gap between the rate of growth of current technological advancements and the rate at which these advancements are making it to the clinic. He discussed some of his own efforts toward this goal in a TEDx talk earlier this year. Check it out for yourself!

 

Adapted from Dr. Tony Blau's TEDx Tacoma talk and presentation at the ISB Systems Biology and Cancer Symposium, April 2014
Adapted from Dr. Tony Blau’s TEDx Tacoma talk and presentation at the ISB Systems Biology and Cancer Symposium, April 2014

Riyanka Ganguly – A young role model for all ages

I was blown away by this 5 minute speech by high school student Riyanka Ganguly. In an Ignite Seattle speech entitled ‘I Like Pink But That Does Not Mean I Can’t Think,’ Riyanka beautifully challenges stereotypes and preconceived notions that young girls (and grown women) encounter as barriers to their success–especially those of us interested in science. Riyanka is an unapologetic go-getter. She started a chapter of Young Women in Bio at her high school and I can’t wait to see all the places she’ll go!

Q&A with Dr. Alan Kristal about omega-3 fatty acids and prostate cancer risk

Many of you have asked about the recent study Hutch study that links consumption of omega-3 fatty acids with prostate cancer. Here I share a really nice post from the Petri Dish blog by the Hutch that answers many questions:

http://questmagazine.wordpress.com/2013/07/18/qa-with-dr-alan-kristal-about-omega-3-fatty-acids-and-prostate-cancer-risk/

Reversing the ‘brain drain’ in developing countries

I recently posted that cancer is an increasing global health threat in developing countries. Additionally, there exist major disparities in survival and treatment between developed and developing countries. One of the reasons for these disparities is lack of access to equally well-trained healthcare professionals. A solution posed by Princess Dina Mired of Jordan is creating professional and academic environments in developing countries that entices folks earning PhD’s and MD’s abroad to come back and work at home–essentially reversing the ‘brain drain.’

Here is an interesting article from The Chronicle of Higher Education discussing steps India is taking to prevent this ‘brain drain.’ Note that the article is not focused just on healthcare professions. 

India Takes Steps To Prevent ‘Brain Drain’

Angelina Jolie’s Story—An Incomplete Picture

In an op-ed piece in The New York Times, actress and director Angeline Jolie wrote that she recently had a prophylactic double-mastectomy to reduce the chances of developing breast cancer, a disease that took her mother’s life. She explained that she carried a “’faulty’ gene, BRCA1” which puts her at high risk for developing breast and ovarian cancer. She underwent the double mastectomy to reduce the risk of breast cancer by removing the tissues that generally give rise to tumors.

I heartily applaud Jolie’s documentation of a very personal experience on such a public platform in an attempt to encourage women with family history of breast and ovarian (and other) cancers to have open discussions with their medical professionals about genetic testing and possible preventative options that may be available to them. I can’t stress how important it is to have open conversations about scary health issues like breast cancer, especially since they may be tied with health, identity and possibly sexuality.

However, I must admit that as a scientist who studies BRCA1-associated breast cancer, I also felt a sense of alarm as I read the article. Many thoughts whirled in my head. Jolie’s focus on primarily breast cancer in women with BRCA1-mutations and double-mastectomy as a preventative option is far from complete. Though I respect Jolie for speaking openly about her personal matter, I feel that she and others who speak on such matters in public platforms have a responsibility to make the discussion as close to complete as possible. As a person of great influence, I wish she had provided a more complete picture, especially to a world in which medical and scientific information is often presented over-simplified to the brink of being inaccurate (more on this in another blog).

Below I attempt to touch on a few of the issues and questions that were largely ignored in Jolie’s piece.

Is it really that simple?

The article suggests that it’s quite straightforward: Everyone can go get tested for BRCA1 mutations and if positive for a mutation, can get a double-mastectomy and they’re cancer free! Let’s ignore for the moment that mutations in BRCA2, and a growing number of genes involved in similar cellular pathways, also lead to increased breast cancer risk. It also implies that mastectomy is the only preventative option available. Generally, women with family history or with known BRCA mutation are followed closely to allow early detection (and treatment) of breast cancer though they tend to have slightly higher risk of breast cancer (a yearly incidence of 2.5%) than those who have undergone prophylactic mastectomies (Meijers-Heijboer et al). Other, less invasive, options exist.

What is the impact on healthcare and more?

How many women without family history of cancer will visit their physicians and demand testing for BRCA? As Jolie mentions, the current cost of genetic testing for genes for breast cancer predisposition is over $3000. It is currently recommended for individuals who have family history of breast and ovarian cancer (and sometimes others) to have genetic testing to look for disease causing mutations and insurance generally covers this cost. We must think about the general impact on the cost of healthcare more broad genetic testing will have (at current costs), without even considering the cost of additional doctors’ visits by individuals at low-risk.

Another complication is what is known in the BRCA research and clinical community as ‘Variants of Unknown Significance’ or VUS. VUS refers to ‘mutations’ in BRCA1 that may just be changes in the gene that are not known to lead to cancer. We all carry differences in our genetic code in many of our genes compared to others in the human population. Many of these changes are benign—they don’t have any perceivable effect on our biology and health. We usually refer to changes in our genetic code that do have a perceivable effect on our health as ‘mutations.’ It is unclear whether a lot of the changes that are known to exist for BRCA are benign or real mutations. We must consider the potential scenario of a nervous individual with a benign VUS deciding to undergo major surgery like prophylactic mastectomy or oophorectomy (see below). Is the benefit in this case worth the physical, emotional and financial costs?

What about the ovarian cancer risk?

Discussing breast cancer (and preventative mastectomy) without a thorough mention of ovarian cancer for BRCA1-mutation carriers is an incomplete discussion. Jolie briefly touches on ovarian cancer risk; she does not provide it the weight it deserves. Granted I may have a biased perspective as a breast cancer researcher, I don’t perceive education on breast cancer in the US to be lacking. We are constantly inundated with emails, media campaigns, professional sports stars wearing pink athletic shoes, among other things that bring awareness to the real dangers of breast cancer. We have many options (with varying degrees of effectiveness) for early detection of breast cancer.

Ovarian cancer is a different beast. One of the biggest problems with ovarian cancer is that it is often not detected until it is progressed to an advanced stage. Chemotherapy and surgery are among the treatment options that can increase survival but the prognosis is generally not great, 5-year survival rates of 18-35% for aggressive, late-stage disease (American Cancer Society). For individuals with advanced risk, like BRCA1 mutation-carriers, prophylactic oophorectomy (preventative removal of the ovaries), which can accompany removal of other organs like fallopian tubes, is an option. But, it’s complicated. It’s a difficult decision since it can affect when a woman has children and has many long-term health complications including hormonal changes, increased risk for osteoporosis and cardiovascular disease. Furthermore, risk of ovarian cancer after surgery is lowered not eliminated.

I thank Angelina Jolie for sharing her personal story with women and opening up conversation about genetic testing for women at high risk. The story is much, much more complicated. It is imperative that those who have the knowledge and the platform inform the public in the most thorough way possible.

References

American Cancer Society: www.cancer.org

Meijers-Heijboer, H., et al. (2001) Breast cancer after prophylactic bilateral mastectomy in women with BRCA1 or BRCA2 mutation. The New England Journal of Medicine, 345 (3): 159-164.

Women in STEM fields: Interview by Susannah Meyer, high school student

Women in STEM fields: Interview by Susannah Meyer, high school student

Susannah Meyer, a high school student, interviewed Rebecca Caruso, Executive Vice President of Corporate Communications for L’Oreal USA, Joanna Kelley, a postdoc at Stanford University and future faculty at Washington State University studying biological diversity, and myself regarding the current state of affairs and future solutions for improving the representation of women in STEM (Science, Technology, Engineering and Math) fields in the United States. You can read Susannah’s blog on the topic which includes a summary of the interviews and a video interview.