Plea from a cancer survivor and scientist to save the ACA and science funding
My name is Kiran Dhillon and I live in Seattle, WA (98102). I am writing to ask you to help save the Affordable Care Act and to strongly support increased funding for scientific research.
In March 2015, I was diagnosed with breast cancer. The news was devastating but I powered through surgery, chemotherapy and radiation. I even met you at a fundraiser for you in West Seattle soon after I had lost my hair to chemotherapy. At the time, I was a scientist at the Fred Hutch, studying chemotherapy resistance in breast and ovarian cancers of all things. I had excellent insurance and acquired only a few thousand dollars in debt from medical bills. Now as I wait for my 2 year mammogram on March 10, I find myself filled with an enormous amount of anxiety. My cancer was found early so the prognosis is very good but I still can’t help being nervous before the big test. This time around, the prospect of repeal of the Affordable Care Act has added another dimension to the anxiety. I have insurance now but if I ever had a recurrence, would I be denied coverage due to preexisting conditions if President Trump and Republicans had their way with the repeal of the ACA? This thought terrifies me. Would I have to make decisions based on my financial ability instead of my medical needs? Would I become a burden for my family?
As a scientist and someone who now promotes scientific research as the Director of Scientific Programs for the Rivkin Center for Ovarian Cancer, I’m also alarmed at the prospect of reduced funding for scientific research. Men and women who are currently battling or have survived the horrible ordeal of cancer are depending on scientists across the nation to continue to work hard until we have a cure for these deadly diseases.
The United States has been the leader of research and innovation since the time of Benjamin Franklin—a tradition that continues today. I believe there are (at least) two major factors that have contributed to our success and both are under threat with the new administration. First, we invest more at the federal level on research and development than any other country. Second, our immigrant past and present ensure a diversity of ideas and approaches that are required to solve difficult scientific, medical and engineering challenges. The policies and tweets of the current White House administration threaten both federal funding for research and development and immigration and diversity. We will surely not remain leaders in innovation and research if these trends continue.
Senator, we need you and your colleagues in both the Senate and the House to fight for us. Fight for cancer survivors like me. Fight for the ACA. Fight for science. Fight for immigrants. We also promise to do our part. As you have seen we have organized ourselves. You and your colleagues will hear from us. We will provide you the public support you need to help defend our freedoms and rights to equality, healthcare and a healthy environment. Fight for America.
I appreciate your help and ask that you please send me a response with a commitment to protecting the ACA and funding for research. Thank you for your time and considering my request.
Here’s a piece I co-wrote with my colleague Kathy Briant on the disparities in survival from breast cancer. Next week, Hutch United hosts two Diversity Seminars that will include discussion on efforts of cancer research centers to decrease such disparities. The post was originally posted on the Hutch United Blog.
The color of your skin may impact your risk as well as your prognosis for breast and other types of cancers. It sounds absurd, but it is true. For example, last year, a study published by the Sinai Urban Health Institute and the Avon Foundation for women reported that black women are 40% more likely to die from breast cancer than are white women, even though mortality rates from the disease are decreasing overall. In some cities in the US, they’re up to 70% more likely to die. What’s worse is that this disparity in mortality is growing in a majority of the cities analyzed.
Disparities in cancer incidence and mortality rates are not a new phenomenon and they exist for a number of reasons—and the problem isn’t exclusive among black women. In fact, regardless of race or ethnicity, disparities are often seen among people of low socioeconomic status and people who live in areas with limited or no access to effective health care (e.g. Native American women living on Indian reservations and Hispanic women living in rural Yakima Valley). These medically underserved populations tend to suffer from a disproportionate burden of cancer when compared to the general population (NCI Center to Reduce Cancer Health Disparities).
Why does such disparity in breast cancer mortality exist?
Reports from Avon and the Fred Hutch highlight some of the underlying socio-economic and biological causes of this disparity. Differences in both access and the quality of cancer screenings may explain some of the disparity. Medically underserved women may have less access to “cutting edge” screening technologies. Additionally, there may be differences in both the access and quality of cancer treatment for them because they may seek treatment at local hospitals as opposed to cancer centers that not only offer treatment, but conduct research and can offer access to novel therapies. Further, distrust of the healthcare system due to historical injustices may keep black and other minority women away from traditional sources of healthcare for longer, which delays diagnosis and treatment and negatively impacts survival.
It’s also possible that genetic differences, however slight, may also contribute to differences in survival. For example, higher obesity rates known to occur among black and Hispanic women may place them at higher risk for breast cancer. It’s important to note however that this doesn’t explain differences in treatment once a diagnosis has been made. Another reason for worse outcomes is that black and Hispanic women tend to get a more aggressive, and less treatable, type of breast cancer.
Increasing trust and removing barriers to access
Dr. Beti Thompson, Director of the Health Disparities Research Center at Fred Hutch offers some solutions to reduce the existing disparities. One much needed solution is ‘connecting with the community’ and building trust. Historical abuses, such as the Tuskegee syphilis study, continue to have repercussions in the present day. These types of cases laid the foundation for distrust and fear of the medical establishment by minority populations.
In addition to building trust, Dr. Thompson and others suggest education to dispel cancer myths and empower community members to make informed decisions about cancer prevention and screening. Equally important is increasing access to screening by offering appointments outside of normal business hours for the working class, bringing mobile mammography units to communities with limited access, or partnering with the Breast, Cervical and Colorectal Cancer Early Detection Program to offer low-cost or no-cost mammograms for those who are uninsured or underinsured. In addition to lowering screening costs, bringing screenings to communities can result in increasing access to early diagnosis for even the most isolated communities.
Addressing the critical need for increased participation of minorities in clinical trials
Though major advances have been made to understand the genetic basis and treatment of breast and other kinds of cancers, most of these studies have been conducted in white women (and men). It is critical to understand if findings from these studies are broadly applicable to patients across all ethnic groups. There has been a push in recent years to expand studies to other minority populations but progress has been slow.
Recruitment of minorities in clinical trials still lags due to a number of issues including recruitment problems and fear among patients due to past abuses discussed above. Perhaps recruitment can be improved by developing culturally relevant communication tools that are tailored for communities. Minority community members may not be aware of the importance of participating in trials—treatment may benefit them individually, but it also helps advance research to develop cutting edge therapies.
Additionally, different tools or approaches may be needed for the recruitment of patients of different ethnicities. An increase in the diversity among the clinicians and other caregivers who are attempting to serve patients from different communities may ameliorate the recruitment and trust issues. This paired with more cultural training for non-minority clinicians may decrease potential biases that interfere with recruitment of minority patients in clinical trials.
As scientists and clinicians, we help provide solutions to the myriad of health problems that plague humanity. However, it is also imperative that we strive to bring equitable access to those solutions among people from different socio-economic and cultural walks of life. The problems are grand and the solutions are not simple. Building trust has to occur at the level of the community and that is slow work, but we can do it.
Kiran Dhillon is a postdoctoral scientist working to identify mechanisms of chemotherapy resistance in BRCA-associated breast and ovarian cancers at Fred Hutch. In addition to being a breast cancer researcher, Kiran is also a recent breast cancer survivor. She is a founding member of Hutch United and a member of the Fred Hutch Diversity Council.
Katherine (Kathy) Briant is a bilingual (English/Spanish) and bicultural community health educator with the National Cancer Institute’s (NCI) National Outreach Network. She works with Dr. Beti Thompson of the Health Disparities Research Center at Fred Hutch using a community-based participatory research approach to implement and evaluate community interventions that address issues around health disparities. Kathy is also a member of the Fred Hutch Diversity Council.
As of September 3, 2015, I am officially an American! Laila Kazmi, a producer at the local PBS station KCTS9 asked me to write about my citizenship experience for their Borders & Heritage: Stories of Immigration project. I’m sharing the piece with you here. You can read the original post on the KCTS9 website. You can alsolisten to my reading of a version of this piece as part of KUOW 94.9 (NPR)’s Storywallas, a storytelling event inspired by the Moth. The recording also has other stories shared that night, with mine appearing in the last 15 minutes of the recording.
“Fifty nifty United States from the 13 original colonies ….”
This is the song that was stuck in my head as I stood in the FedEx office putting together all the required materials for my United States Naturalization application. The giddiness and excitement had caught me completely by surprise. I had resided in the country for 28 years and had felt like an American for at least half of that time, despite being a green card holder. I had viewed getting my citizenship as a formality for “officially” becoming an American, and of course, gaining the right to vote. Yet I felt so excited that day that I sang the 50 states song all the way to work from the FedEx office. Perhaps getting my citizenship was more than just a formality and I couldn’t wait to get my U.S. passport. Reflecting back, it was a long journey getting to this point though.
I was born in India and moved to Cleveland, Ohio when I was 9 years old. I had known for about a year that my family was going to move to “Amreeka” but I had no idea what that actually meant. I knew that my grandfather was worried about the political climate in Punjab, India at the time. The fallout from Indian Prime Minister Indira Gandhi’s assassination in 1984 by her Sikh bodyguards and the ongoing separatist movement in Punjab had made India unsafe for Sikhs in the 80s. My father’s farm was on the other side of the city from our house, and I remember we would all wait by the window until we saw him pull up in the tractor and breathe a sigh of relief, especially on days when curfew had been enforced due to shootings or other unrest.
My dad’s sister had been living in the United States since the mid-70s and had filed paperwork for us to immigrate since the early 80s. After anxiously waiting for the better part of a decade to receive our invitation to the U.S., it took only a few months for us to leave the only home we had ever known. Despite the dangers in India, I know it was an incredibly difficult decision for my parents to leave everything familiar for a new country with very different customs and ways of life.
Within a few days, I went from being one of the popular kids in my grade and school to being a complete outsider with a strange accent and strange way of doing things. Over time, my accent slowly disappeared and I made lots of American friends, but those changes didn’t alter that feeling of not belonging.
It wasn’t until my first (and only) trip back to India 11 years later that the feeling would change. I had just finished college and decided to go on a trip with my dad. I was so excited! We spent the first two days in the hustle and bustle of New Delhi before going “home” to Punjab.
Though reconnecting with family we hadn’t seen for years was great, the experience was far from the homecoming I had expected. The place that I had expected to feel so familiar, didn’t feel like home at all. And though I dressed in a traditional Punjabi salwar-kameez, people treated me like a foreigner. Sadly, my once fluent Punjabi now resembled that of my ABCD, or American-Born-Confused-Desi (“Desi” is a slang term referring to people from South Asian countries) friends, with a healthy interjection of “Okay” and “Yeah.”
Once again I was an outsider with a strange accent and a strange way of doing things. When I questioned customs pertaining to religion or the roles of women in the household, I was seen as rude or disrespectful. On the opposite spectrum, people thought the questions I was asking were cute or funny — I just couldn’t say the right thing. I missed the openness with which we can talk about almost anything in America. Though I enjoyed the trip, the culture shock I experienced was completely unexpected!
After returning home to the U.S., I went through a sort of identity crisis — confused about where I belonged and how I saw myself.
It took me a while to understand, but I finally realized that accepting a place as home was more about a decision I needed to make and less about others accepting me or making me feel at home. I had spent my youth hanging on to India as home — I hadn’t realized how much of an American I had become. And despite its imperfections, I couldn’t imagine living anywhere else in the world.
My need for holding on to my Indian identity was borne out of living in a close-knit family, and as is the case for many immigrants, a fear of losing integral aspects of a cultural heritage.
The turning point for me was moving away from home to Seattle for graduate school soon after that impressionable visit to India. It was the first time I only had to worry about myself, which felt selfish at first, but I soon learned to call it “self-loving.“ I loved the taste of American independence that accompanied a focus on individuality! I wasn’t afraid of being labeled “too American” anymore. I was proud of it. I soon learned that I didn’t have to choose to be one or the other — I was a good mix, loving my American individuality with a healthy appreciation for the close familial bonds of my Indian culture. I finally could stop questioning who I was or where I belonged.
As I sat in the auditorium along with people from 15 other countries at the Seattle Office of Homeland Security, waiting to take the oath to officially become an American, I felt an enormous tide of emotion well up inside me. President Obama came on the screen and talked about the hard work and sacrifice it took for us to be there and how we should feel not only pride but a sense of duty to our new country. It might sound overly sentimental, but I felt it. I also registered some sadness at not being an Indian anymore, but most of the emotion I was feeling was indeed pride! I couldn’t wait to pull out the small American flag in the packet I had been handed and wave it at the end of the ceremony. The official told us that the only office higher in the land than President was that of citizen. “We the people,” begins the Constitution. We the people, indeed! I had finally come home.
Time to get personal. Here I share a piece I wrote for the Fred Hutch News Service about my own recent experience with cancer and how the associated hair loss invoked questions of identity. Though many of my friends and family know about my diagnosis, I apologize to those who are finding out through less personal ways.
A cancer researcher with cancer writes about family, identity and being outed by her own hair
By Dr. Kiran Dhillon / For Fred Hutch News Service
Editor’s note: Dr. Kiran Dhillon, a 37-year-old postdoc studying chemotherapy resistance in breast and ovarian cancers at Fred Hutchinson Cancer Research Center, was diagnosed with breast cancer herself in March. This is the first installment of an occasional series chronicling her experience.
As long as I can remember, I’ve been obsessed with my hair. I was born into a Sikh familyand keeping all hair in its natural form is of paramount importance to practicing Sikhs, who believe in keeping the body in the state that God created it. Men, as well as some women, wear turbans to keep their hair tied and clean, and also as a symbol of their Sikh identity. This is what I was taught growing up in India and then after we moved to the United States.
But as I got older, I had other ideas about what I wanted to do with my hair. In short, I wanted to cut it and have cute haircuts like my friends. Knowing the importance of hair for my family, especially for my father, I couldn’t quite muster the courage to ask. I knew how he felt about it.
As time went on, somehow my mother got permission for my sister and me to finally be allowed to shave our legs so gym class wouldn’t be quite so embarrassing — kids can be mean and not very understanding of other cultural norms.
A few years later, I finally began to broach the subject of cutting my hair with my father. I came up with all sorts of excuses about why I should be allowed. I told him my thick hair, which came down to my waist, was so heavy it gave me headaches, that it was so long I sat on it and that it was too hard to manage. The one reason I didn’t use was, of course, that I wanted to cut my hair to keep it how I wanted — me, not someone who lived long ago and wrote the religious texts.
Finally, my father gave in.
Admittedly, my first haircut wasn’t a pretty one. My sister cut it straight across about halfway up my back with a pair of dull scissors. But it didn’t matter what it looked like. I finally felt liberated!
In the years since, I’ve never let it get much longer than shoulder length. I half-joke with my friends that when it gets to be a little below my shoulders, it reminds me of my “oppressed period.”
I’ve tried all sorts of hairstyles over the years — bobs, perms, flipped out, flipped in, layers and bangs. But the one hairstyle I’d never had the courage to try was bald.
That is about to change.
In the midst of my obsession withhow I wanted my hair and why, the one thing I never considered was that I would lose the option ofchoice,for which I fought so hard.
Cancer took that choice away. I was diagnosed with breast cancer on March 10. I think, or rather hope, I’m one of the lucky ones. I found the beast early (stage 1) during a self-exam and have a very good prognosis. I had surgery and still have to jump through the hoops of treatment — chemotherapy and radiation.
I know all about breast cancer — my job is to study chemotherapy resistance in breast and ovarian cancers at Fred Hutch. I know the statistics and facts, but when my doctor called me to tell me I had cancer, my first thought was “I’m going to die.” In that moment, there was no room for rational thought.
Now that I’ve had time to get used to the diagnosis and have a lot more information after the lumpectomy, I’m fairly convinced that I’ll have a normal(ish) life after treatment. Life has no guarantees but I’mcool withmy odds (being a scientist really helps here).
The thing is, even being really optimistic about the outcome, I still have to live through the challenges of treatment. Right now I’m a third of the way through a 12-week course of chemotherapy.
I’ve been lucky that life has remained fairly normal so far. I’m working pretty much full time, keeping up my normal social butterfly schedule, and I’m not experiencing any uncomfortable side effects (yet).
Unless of course if you count the impending hair loss. I’m finding this one difficult to deal with since my hair has long been a symbol of my struggle to fully become who I am.
Right before I started chemo, a friend cut my hair into a pixie style, the shortest it’s ever been, so that when it falls out, maybe it would be less traumatic. I’ve been yanking at my hair since the start of chemo last month trying to see if it’s falling out. Finally, last week, strands started coming out every few times I pulled at it.
If I had to estimate, I would say I’ve lost around 100 hairs so far. It seems silly to be counting. I think I’m doing it to reassure myself that I haven’t lost that much. My plan is to let it thin out until it doesn’t look good anymore and then buzzzzzzzzzzzzzz.
I’ve been thinking about why it’s bothering me so much. There’s, of course, just simple vanity and I’m not embarrassed to admit that. It’s not about being some self-defined standard of beautiful, but more about not looking normal. Maybe it’s more about me looking in the mirror and seeing what looks like a sick person. I think that’s what worries me most.Now other people who don’t knowwhat’s going on will know something is wrong as well. I’m being outed by my own hair.
The one thing cancer hasn’t taken away from me, despite some of these petty worries, is my sense of humor and optimism. Turns out there are actually a few things I’m looking forward to once my hair goes: I’m not going to haveto shave my legs all summer. As another friend reminded me, getting ready in the morning will be a breeze with hair styling time cut to zero. Also, I’ll finally have the courage to try out some really short hair styles once it starts to grow back.
When I first learned my diagnosis, I worried about how my precious lot of niece and nephews would react as my appearance changed. They do know I have an “owie,” but they’re too young to fully understand everything that’s going on. I didn’t want to scare them when I lost my hair so I decided to make a game of it with them. I told them I’m going shave my head for fun. And, if it didn’t look good, I’d wear some wigs. I even had them try on the wigs. They thought it was hilarious. Phew!
In all of this, my father, the man who I was once afraid wouldn’t understand my desire to cut my hair, is one of my biggest supporters. He was at my side during my first chemotherapy treatment even though I know it was difficult for him to see his little girl in a hospital bed. It was that day that he noticed my pixie cut and we talked about the fact that I would lose my hair. He reassured me as confidently as he could that it would grow back.
It reminded me of when I was a teen, after that first haircut my sister gave me, which upset my grandmother. It was my dad who came to my defense then, relying on a Punjabi expression that came from the farming community where my family had once lived: “It’s our home grown crop,” he told her. “We can grow it as often and as long as we want. It’ll keep coming.”
Meanwhile, he sees me, the real me, aside from my hair. And I’ll learn to do that too.
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!
This is the second post in the Diversity in Science Series where I reflect on some of my own early experiences as a person of color and the first in my family to enter a PhD program.
The first time I noticed the lack of diversity in the sciences was as a young graduate student as I listened to a seminar and noticed that I was one of only a few people of color in a full auditorium. I distinctly remember feeling both intimidated and conspicuous. I’m sure I wasn’t the only new graduate student who felt intimidated. It was common feeling among everyone in our class, regardless of color. We had even learned there was a name for what we were feeling, ‘impostor syndrome.’ The thing for me was that the feeling of being an impostor wasn’t just because I’m brown—Indians aren’t underrepresented in the sciences.
Feeling like an impostor came more from my personal background. Everyone seemed so familiar with the research scene. I didn’t even know what a ‘PI’ was when I first arrived since I had never done research in a lab. (FYI, PI stands for Principal Investigator—in other words the boss of the lab.) My classmates seemed to be so comfortable socializing with other students and faculty. The only PhD’s I knew before grad school were my professors from undergrad. And, it seemed like everyone else’s parents were professors or doctors or other types of academics. I came from a blue collar family. My dad was a farmer in India and worked as landscaper in the US before becoming a real estate agent. My mom was a house wife in India and then worked at a farmer’s market and a macaroni factory in the US.
I felt out of place—and I didn’t want anyone else to know. So, I faked it.
I didn’t ask questions but instead paid attention and stayed quiet until I learned what I needed to without letting anyone in on my secret, for a while anyway. It took me about a year to start to make friends—who eventually became really good friends and got to know the real me, and my family. As time went on, I realized that I wasn’t alone in feeling this way. A lot of folks had come from different backgrounds, and I don’t just mean color. But nobody ever talked about it so we went around thinking we were alone in feeling out of place.
We were all faking it!
Why was there the need for secrecy? The thing about being different in any environment is that it can make you feel very conspicuous. No one has to say a single word to you for you to feel this way, you just do. I didn’t want to seem to others like the outsider I felt I was, so I kept my little secret. And so did everybody else.
Would things have been different for me in those early years had I met someone who came from a similar background? Definitely!
I am so proud (and always have been) of my family’s ‘blue collar’ background and how hard my parents worked in a country that was foreign to them so my siblings and I would have the best opportunities available to us. I’m ashamed I didn’t talk about it openly, or even hid it in an effort to fit in. Maybe if we share our stories more openly, we can help reduce the pressure of fitting in and being different for aspiring young scientists from even the most humble backgrounds.
It’s been many years since that day in the auditorium, and I still find myself thinking about diversity in science. The difference is that now I openly talk about my ‘different’ background, especially to the younger scientists. It’s time to celebrate the diverse backgrounds we all come from and use this diversity to launch us forward, and not hold us back. As a few friends and I endeavor to find solutions to the diversity problem at our own institution, we’re starting by sharing our own stories. Everyone has one. What’s yours?
Diversity in the sciences is a topic that is close to my heart and something I keep coming back to over and over. It’s not something we strive for just in the sciences but probably all work places. I’ve always taken it as a given that diversity is a good thing without feeling the need to justify it. But, why is diversity so important in the workplace?
What diversity means to me
For me, diversity refers to cultivation and celebration of ideas from and individuals from different ethnic, national, social, economic, political, physical, mental and sexual (orientation and identification) backgrounds and ways of thinking. Yeah, it’s a cumbersome definition but it’s inclusive, just like the word it defines. And notice, I didn’t write ‘tolerance.’ For me, true diversity means respecting and celebrating differences, not just tolerating them.
Getting back to why diversity is important
An obvious reason is that cultivating a diverse work force allows ‘equal’ opportunity for folks from different backgrounds, some of which come with challenges that can be roadblocks to success. But I think the strongest argument for diversity is that we ALL benefit from working in an environment with people from diverse backgrounds, ideas and experiences. Working with folks with different experiences, different sets of assumptions and approaches to problems not only has the potential to lead to more creative solutions but also forces us to challenge our own assumptions and ideas.
Lack of diversity in the sciences is a problem
Despite the potential benefits, the sciences still struggle to be sufficiently diverse. We have a really nice representation of international scientists (which is great!). However, there’s a glaring and well-documented under-representation of African-Americans, Native Americans, Mexican-Americans, mainland Puerto Ricans and Pacific Islanders across academic and research institutions nationally. The problem gets worse the higher you go up the ladder, from undergrads, grad students, postdocs, faculty, and all the way up to higher administration. The reasons behind this are complex-involving circumstances that have basis in history, economics, social and racial conditions and politics-and we won’t explore them here.
What we can explore here are some possible solutions. Through a series of posts I’ll conveniently call ‘The Diversity Series’, I’ll explore different solutions some of us are implementing locally to foster diversity. The next post in the series will be ‘Sharing Our Stories.’
As a geneticist, I’ve been studying the genomes and genetics of other individuals (and species) for years now. From time to time, I have been curious about learning about my own genome. What’s hidden in the base pairs of my DNA sequence and what does it say about me? Do I really want to know? What would I do with that information if I had it?
Now, anyone who’s willing to fork out $99* can get their genetic information easily through companies like 23andme. If you haven’t heard of 23andme yet, you will as they’re now advertising on television. It works like this: you spit in a tube and a month or so later, you find out if you carry genetic variants in your DNA that may be associated with increased risk for certain diseases, may affect your response to certain drugs or a number of other traits. You also find out information about your ancestry.
Just to be clear, you don’t find out the sequence of your entire 3 billion base-pair genome. You get sequence information for about 1 million sites that are known to vary among individuals (called Single Nucleotide Polymorphisms or SNPs, pronounced ‘snips’) and have been studied for association with various phenotypes (things we can detect in people, like physical traits or health conditions, that are a result of genetics or genotypes).
That sounds like a lot of data. And I love data!
So, am I going to spit in a tube and wait for my own genetic data?
I don’t think so! At least, not yet.
The major reason is that we have limited information to really understand the impact of different variants. Yes, we’ve been able to identify a lot of variation among humans and, yes, we’ve even done studies that link certain variants with an elevated risk for common health problems like diabetes and heart disease. But most of these studies show weak associations with modestly elevated risk of disease.
With a few exceptions, there is very little actionable information that one can learn beyond current recommendations for a healthy lifestyle. What would the recommendation be for someone who carries a variant that’s associated with elevated risk for diabetes or heart disease? The answer: healthy diet and exercise. What’s the recommendation for the general population to reduce risk of diabetes and heart disease ? The answer: healthy diet and exercise. And what if you find out that you’re not at risk for heart disease or diabetes based on the variants that were tested, does that mean you won’t get heart disease or diabetes? No, not necessarily! So how much does knowing you have these low impact variants actually help?
Let’s talk about data again. It is a lot of data. But is it enough? If the genetic testing tells you that you don’t have the variants that put you at risk for breast cancer, are you really safe? Having worked in this field, I know that there are literally thousands of mutations across tens of genes (that we know of so far) that can put you at risk for breast cancer. A negative result from a few variants tested in such tests may give someone with family history of breast cancer a false impression that they are ‘safe’ from the disease.
A big concern is that, for some folks, this kind of testing (direct-to-consumer) may take the place of traditional genetic testing which is done under the guidance of a physician and a genetic counselor, who can better interpret and explain risk of disease. Based on your family history, your physician and genetic counselor can determine if you need to get genetic testing done for disorders known to have strong genetic basis (like predisposition to breast cancer or Huntington’s disease). I would argue that knowing and informing your physician of your family history is paramount.
So what about you? Should you send away spit for your genetic information?
Sure, if you want. But, I would think of it mostly as entertainment only (for now). It could be fun to find out about your ancestral genetic background. My own family history can be traced back for a few hundred years but I might be curious to see who my ancestors were further back in time. And, one may argue that gathering genetic data from a large number of individuals may actually help us better understand impact of genetic variants. But as far as I know, there’s no medical history or medical tracking that’s associated with your genetic information, which would be needed those kinds of studies.
Bottom line, if you decide to fork out a hundred bucks, just be informed about how much weight to put in the information you get. I wouldn’t base any major health decisions based only on these sorts of tests. Personally, I would wait until there’s more information available that will help us better understand the impact of genetic variants that contribute modestly to disease states. And if you suspect you may carry a disease-causing mutation based on family history–talk to your doctor!
*Actual cost can vary depending on how long you want access to the data. The cost of the kit and testing is $99.
And why should scientists care if the general public cares about science?
Last week I wrote about the importance of science community engagement in public education and the role of science journalism. The implicit assumption of the post is that it is important for the general public to be engaged in science. In case you don’t share this assumption, let me outline a few reasons why you should.
Scientific developments affect us all, whether it’s the development of new cancer therapies, understanding what causes drug resistance in ‘super bug’ bacteria, or evaluating the safety of genetically modified foods (we all consume them).
Having a better understanding of how seemingly small contributions in very specialized areas by a large number of scientists (which includes some disagreements), over time and across the world , collectively help fields move forward will help the public understand why science is slow.
A general public that understands how discoveries in a fruit flies or yeast can help human health and innovation in general will hopefully generate more support for research. Public support for research may translate to an increase in funding.
Beyond financial support, an informed general public can better judge science news without the sway of politics (think global warming).
As you can see, the benefits are many for both scientists and non-scientists alike!
Recently I had the privilege of meeting Joe Palca, a science correspondent for NPR and creater of Joe’s Big Idea. I had invited Joe to come speak to young scientists at our institution about science writing. In addition to picking Joe’s brain for career advice, this was an opportunity for us to learn more about science reporting. Most scientists will tell you they feel that main stream media science stories leave out important details and often misrepresent the impact of scientific findings.
Joe, who has a PhD in sleep psychology from UCSC, seemed like the perfect person to have this conversation with since he knows the worlds of science and journalism well. I expected him to echo some of our frustrations and maybe vent about limitations of reporting to a general public that has a limited science education or gripe about colleagues who don’t pay attention to detail. To my surprise, the conversation went in a very different direction. When asked if Joe feels like it’s his (and other science journalists’) responsibility to educate the public about science, he responded “no” and said that his responsibility was to report on science, which is different. He pointed out that most science reporting pieces usually have no more than one or two sentences actually describing the science—the story is often about the people doing the science, not the science itself. This was a surprising and interesting perspective to hear. Thinking more about this, Joe’s right. He’s a journalist, not an educator. His job is to report on the story. Why do we as scientist place the burden for educating the public on the shoulders of journalist?
If it isn’t Joe’s job to educate the public, whose job is it? Regional and national science education centers like the Pacific Science Center in Seattle do a great job of educating some of the public. But can we, as scientists in the trenches, do more? I think we can. And we should. Most science in this country is funded by the government which means tax payer money. We routinely give progress reports in the form of scientific publications to the scientific community, but isn’t it our job to give a progress report to the taxpayer as well? Having said that, I do concede this is a really difficult task. Most of us are great at presenting our most recent findings in auditoriums full of experts but when it comes to explaining what we do to grandma, we can find ourselves at a loss for words!
Science makes it into the news if there’s a huge discovery in a particular field. But, there’s a lot of cool science going on all the time! I know because my friends are work on it—human evolution, anti-freeze proteins, genetic engineering, just to name a few. Now, let’s see if we can find a way to tell you about it. Stay tuned!
Photo: By Philamer Calses, University of Washington PhD Candidate