Tag Archives: health care

ScienceOnline Warm-up: thinking about information and communication

Yet again this year I am lucky enough to be attending ScienceOnline unconference on science communication in January. I succeeded in registering in time – they were full up & adding people to the waiting list in less than one hour – & I’m so excited to be going that I already have gotten my hotel reservations & have begun ‘preparing’ (as requested by Anton & Bora) by specifically reading attendee blogs & thinking about various mechanisms for scientific communication. As I confessed in the past, I am by nature an introvert -social media and blogging do not flow naturally and abundantly from me. But in an effort to learn and grow I’ve been reading and dabbling more in social media outlets. I find the scope of venues and their ‘personalities’ really very interesting. I have begun to formulate the opinion that social media in general and scientific communication in specific are very similar to science careers – there really is an option out there that is perfect for anyone. The bugger is finding your perfect match and then using it efficiently & effectively. Below is an amorphous reporting on various things that  I (at least loosely) associate with the topics of communication & information:

The November 5th issue of Science has an article “Open mHealth Architecture: An Engine for Health Care Innovation”  (available here without a subscription) describing a health care delivery system using mobile communication devises – mHealth. The entire article makes a lot of sense, describing how ‘stovepipe’ mHealth apps mean duplicated patient efforts and information blockades for health care provides. It suggests a public-private partnership to create an “open” architecture and standards similar to the internet where apps use standard formats and can all feed data into and retrieve data from the same central “data vaults”. I find little to argue with in the article, but also few details on how this could practically be accomplished or who could/would lead the effort. The article’s authors are associated with UCLA and UCSF, and are also listed as contacts for the Open mHealth organization (not strictly pointed out  in the article).

Another interesting concept in health care is offered in the article “When Facebook is your Medical Record“. As implied by the title of the post, it will be interesting to see what’s developed & what’s been dropped as techniques in health care. From my own Facebook experiences I wonder how easy it is to find large numbers of patients and search their posts for health information. Any thoughts on this would be appreciated.

The next item that has caught my attention is the Nature article on biohackers entitled “Garage biotech: Life hackers“. This may not seem like science communication, but the amateur biologists had to gain excitement about science from somewhere before wanting to go out & convert their garage/basement into a lab. I’ve been hearing about DIYbio.org for at least a couple of years now, and recently found a ‘pre DIYbio blog‘, though it seems to be  inactive of late.

And for those of you with a subscription to Science, here’s an interesting article: “Reducing the Gender Achievement Gap in College Science: A Classroom Study of Values Affirmation“, which I found through a LinkedIn discussion. It describes a short, affirmative writing exercise performed off and on throughout the course of an intro physics class. The researchers report increased grades & class success for women in the affirmation group over women in the control group. Men did not show a difference. I’m not sure if writing about my core values would have been able to affirm me enough to raise my Physics grades – I wasn’t so much buying into the stereotype that men were better at Physics, more the fact that Physics just wasn’t my bag of tea. And the authors are quick to state that the intervention is only one tool, not a silver bullet, to solving the complex issue of gender inequity in science.

I’ll update this post with my continuingly random finds. Feel free to add your thoughts & finds here too…

Personal Genomics, tipping points and a personal perspective

ResearchBlogging.org Please indulge a long post from a personal perspective, what genomics is about to do for _me_. This is information that many, if not all, of our readers already know. I’ve been researching and working in either experimental biology or genomics for over 20 years. Ever since the beginning of the Human Genome Project , which coincidently started the same year I started my Ph.D. program, into my postdoctoral research at EMBL and now my work at OpenHelix, I’ve known that someday personal genomics was going to impact me, and millions of others, in a big way. Yet, it has always felt that it was one of those things that would be a decision I and we as a society didn’t have to make until we turned that corner that seemed always “just ahead.”

But now I think we’ve turned a corner. It feels, to mix metaphors, that we’ve hit a tipping point. The Human genome project, the mapping and sequencing of the/a human genome from 1990 to 2003, cost approximately 2,700,000,000 dollars (that’s 2.7 billion, I wanted to get all the zeros in). Celera did the genome for 300,000,000. The cost of sequencing an entire human genome has been plummeting ever since. In 2007, the cost of sequencing the genome of James Watson (co-discoverer of DNA) was about 2,000,000. The today cost is about 10,000. Complete Genomics and other companies are on the march to quickly reducing the cost of sequencing a genome under 1,000.

Let me graph the last 8 years for you, mind you, this is starting from the 300,000,000 number, not the 2.7billion, because that graph would be a straight line down.

So, within a year, the cost of sequencing your, my, genome will reach 1,000. If not less. We’ve seen this coming for years now, and it’s upon us. But what does it mean?  A lot of data. But data means nothing without context and analysis. Sequencing my genome would be a waste of 1,000 dollars if I gleaned nothing from it.

Yet, even that seems to have turned the corner from a few tidbits of genetic information to a steady steam and the beginning of a flood.

You know you’ve turned a corner when a genomics testing company begins to offer genetic tests to the mass market through Walgreens. There’s enough context in that data to make money from it, or so they hope. You can be sure the corner is safely behind you when the FDA tells Pathway Genomics and Walgreens that they will need to hold off while they make sense of the regulatory implications. Genomic ancestry test are are also gaining is usability… and scrutiny.

It was the recent Lancet paper on the clinical analysis that seemed to be a tipping point, not for me or those in the field. Genomics has been on my radar since 1988, but for society. I blogged about the paper and it’s use of genomics resources such as GVS, dbSNP and others. In the paper, the researchers did a thorough clinical assessment of an individual’s genome. We’ve brought down the cost of sequencing, now we are learning how much it’s going to take to assess that data from a medical point of view, and importantly, what we can learn from it.

What can we learn from it? I read this paper again from a personal perspective now. Could I learn something from sequencing and analyzing my genome, and if so what. My answer came to this: yes, I could learn something and in fact enough that I’m not convinced that as soon as that sequencing gets down to a 1,000 or lower (and is a high quality sequence :), I’m going to do it.

There are three things I see from this paper that one could learn from assessing their genome: prevention, early detection and therapy. I believe the former will be, for most people, something they already know and their genome sequence will tell them nothing new. The other two could be a wealth of information they will want, even need, to know. You’ll notice I left off ‘cure.’ I saw nothing in this paper, and nothing on the near horizon, that suggests to me that our genome sequence data will help with curing anything. Perhaps, just not much. Yet, the possibilities of early detection of disease and personalized drug treatment are tantalizing. Continue reading

Race and Genetics: The Future of Personalized Medicine

From Kaisernetwork.org, this web seminar on Wednesday 8/20 1ET (tomorrow):

View a live webcast of the Kaiser Family Foundation’s series, Today’s Topics In Health Disparities, which will discuss the potential of race-based medical solutions for improving healthcare and reducing racial/ethnic health disparities. The webcast will take a closer look at efforts to study the interaction between race, genetics and health.

Panelists will discuss the efforts underway to develop medications to treat diseases that disproportionately affect certain racial and ethnic groups, as well as the benefits and drawbacks of using genetic markers for race in medical decisions. Other topics covered include which genetic factors are being used to personalize medicine and what pharmaceutical companies are doing to target the drugs and treatments they offer to certain groups.

Details about the technology and setup are here: Today’s Topics In Health Disparities – Race and Genetics: The Future of Personalized Medicine

I’m not sure how research-oriented it will be. But if you are interested in the future directions of personal genomics this is an area that might be worth learning more about. A new focus at NIH includes the NICGHD, that we talked about here.

NIH Intramural Center for Genomics and Health Disparities (NICGHD)

NIH announced NICGHD last month. This center’s priority:

… will be to understand how we can use the tools of genomics to address some of the issues we see with health disparities,” Rotimi said. “The availability of tremendous expertise and the remarkable research infrastructure at NIH will make our research activities more robust and will allow us to tackle questions in ways that were not feasible in the past.”

This is good development. Recent research highlights this disparity

I look forward to see the ways genomics tools can address this. There is more information about this in a recently published book, “Unequal Treatment: Confronting Racial and Ethnic Disparities in Health Care” and podcast with the same name.

Is GINA a good thing?

That’s a question posed by Daniel at Genetic Future. He mentions an editorial from Nature, whose answer is, without equivocating, “yes.” A letter from a Spanish scientist entitled “How genetic censorship would harm everyone” responds to the editorial :

Better information allows better matching of people and jobs, and of people and insurance policies. The purpose of firms is to produce goods and services efficiently, and information helps to improve efficiency. The purpose of insurance is to manage risk, and information availability lowers risk.

Daniel quotes this to open for discussion. So, I’ll start some discussion. There are several problems with this line of reasoning.

Continue reading

Coalition For Genetic Fairness

Coalition For Genetic Fairness logoThe Coalition for Genetic Fairness is a group of organizations, industry groups, individuals and employers dedicated to “address[ing] the growing concern surrounding the misuse of genetic information in insurance and employment decisions. The Coalition’s objective is to urge Congress to pass comprehensive federal legislation outlawing genetic discrimination and to educate the public about these protections

Some of the institutions and companies that have become members of this coalition include Affymetrix, the American Academy of Family Physicians, Nature Genetics, National Psoriasis Foundation, 20th Century Fox, 23andME, and many others. OpenHelix is proud to say we too are members of the coalition and fully support its aims. (You too can join)… Continue reading