George Church’s IRB has been approved for the first recruitment phase of The Personal Genome Project and he is looking for volunteers:
The Personal Genome Project (a collaborative project with researchers from Harvard Medical School and Partner’s Healthcare) is recruiting seven individuals to participate in a new approach to Human Genome/Phenome comprehensive data integration including ‘identifying information ‘ such as genome sequencing and facial features. The PGP is also championing a new IRB-approved consenting mechanism which frankly discusses the likelihood of disclosure of identifying information in many modern medical research projects and this one in particular. We are seeking a diverse range of volunteers, male and female, from all backgrounds. Our IRB approval restricts us to volunteers with at least a master’s degree in genetics or equivalent. Consent forms will be signed and blood drawn at Partner’s Healthcare Clinical Center in Boston.
If you’ve never heard of The Personal Genome Project (PGP), check out the main page. I also noticed George has posted a fantastic summary of ways in which anonymity of personal genomic data can be compromised. This project is designed for individuals who are willing to contribute to the advancement of medical research with their eyes wide open. For those who see value in making their genomes transparent, George has been careful to make the risks as transparent as possible. The infovores and health information altruists couldn’t ask for a better leader on this front.
The next task will be to expand the project beyond Boston…Stay tuned.
Leroy Hood, tireless generator of good quotes (among other things):
My prediction is that within 10 years, we will have a predictive medicine that will have two separate components.
No. 1, it will have the ability to sequence every human’s genome for
less than $1,000. We will be able to make predictive health histories for each individual from the varying genes that come from that
Perhaps a better term than predictive health histories is
health futures. Is it me, or does having health sandwiched between predictive and history feel claustrophobic?
No. 2, we will have a little hand-held nanotechnology device that
will prick your finger and make a thousand measurements and by
wireless, send that to a server. It will analyze all your past records.
It will say, "Nothing’s changed. You’re fine. Do it again in six
months." Or it will say, "Go see your oncologist or go see your
rheumatologist" or whoever might be appropriate. Your physician would get an e-mail, too.
There’s more from Leroy:
Take into account that your genome and mine differ by 6 million
We have to treat you differently than we treat me and everybody
else. How we create an era of highly personalized medicine will depend
entirely on new diagnostic, therapeutic and ultimately, these
What we’ll do is feed your genome sequence into a grid network of
computers that will do many different kinds of analyses simultaneously.
You’ll get a summary sheet that says here are the things and here are
the probabilities that you’ll likely have to worry about in the future…
Oh yeah, and this is good too..
It takes five years for people to get anything. The first few times
they hear it, they can think of a thousand reasons why it’s wrong.
Then, after they’ve heard it a few more times, it starts to sound more
If you’re a missionary, you’ve got to be patient with your
congregation. We are at the very beginning stages of thinking about
Read the whole piece in the SeattlePI.
So, what’s in it for me? That question probably crossed many minds five years ago following the news that scientists had successfully assembled the first draft of the human genome — the genetic blueprint of a human being. The answer for most of us was ”not much."
What a difference five years can make. Today, we are witnessing a
revolution in the understanding of health and disease, spurred on by
the sequencing of the human genome and the subsequent creation of a map
of human genetic variation. And, like most historic movements, this
revolution has been given a name: personalized medicine.
Francis S. Collins. Personalized medicine: A new approach to staying well. July 17, 2005
Mark D. Widome, M.D. "Should children be tested for adult diseases?" MSNBC News March 31 2004.
Several closely related adult conditions have their origins in childhood. Diabetes, high blood pressure, coronary artery disease, and obesity each place a large health burden on middle-age adults in the United States, yet they start silently decades earlier — often in the teen years or earlier. Should children be tested for adult diseases? Pediatrician and Today show contributor, Mark Widome, says, "yes." He tells viewers what can be done in the pediatrician’s office to combat these adult killers.
Dr. Mark Widome, professor of pediatrics at The Penn State Children’s Hospital in Hershey, Pennsylvania describes the criteria for screening, the screening tests, and the treatment for diabetes, hypertension, cholesterol, and obesity. He notes that these four diseases have the following in common: each has a serious consequence, each has a long lag time, each is detectable early, and early interventions exist.
National Human Genome Research Institute Opens New Branch, U.S. Medicine, March 25 2004.
The National Human Genome Research Institute (NHGRI) announced last month the formation of a new branch, the Social and Behavioral Research Branch (SBRB), to develop approaches to translating the discoveries from the recently completed Human Genome Project into interventions for health promotion and disease prevention, and for counseling patients and families dealing with the impact of devastating genetic disorders.
The SBRB, within NHGRI’s Division of Intramural Research (DIR), also will investigate the complex social, ethical and public policy impact of genomic research…
There will be a number of research groups within the SBRB. They include a behavioral genetics unit; a health communications unit; a genetic counseling service unit; a health promotion research section that includes a unit for disseminating counseling research methods; a community genetics research unit; and an ethics and social policy unit that includes research ethics. In addition, there will be several crosscutting themes addressed by researchers in the new branch, including the implications of genomic discoveries and research for health disparities, the ethical and legal implications of such discoveries, and strategies for information dissemination to medical and other communities.
Patricia Reaney. Computer Program Evaluates Breast Cancer Risk. Yahoo News, March 22 2004.
Scientists have developed a computer program to evaluate a woman’s individual risk of developing breast cancer.
Charity Cancer Research UK said the IBIS risk evaluator uses information about a woman’s family history of the disease to determine whether she has a genetic propensity to develop it.
Other factors including age, height, weight, use of hormone replacement therapy (HRT) and whether a woman has had children are included to give a projected risk.
…"This tool will initially be available only to doctors. In the longer term we do see something that would potentially be available for the population at large," [Jack] Cuzick added in an interview.
The program gives a woman’s individual chance of suffering from breast cancer as a percentage along with the average risk. Patients with a high risk are given guidance and advice about weight loss, use of HRT and screening programs to detect earlier signs of the disease.
…Cuzick said IBIS is already used in hospitals in Britain, the United States and Australia and could be made more widely available soon.
There are also plans to use the program to evaluate the risk of other illnesses such as heart disease and different types of cancer.
"We see it as the first step toward a project providing information to both men and women of their risk of major diseases and what they might do," said Cuzick.
"Rather than having health education that is blanketed to everyone, this would be personal, individualized information as to what your personal risk factors are based on your personal history." (emphasis mine)
Jonathan Tyrer, Stephen W. Duffy, Jack Cuzick. A breast cancer prediction model incorporating familial and personal risk factors. Statistics in Medicine. Volume 23, Issue 7 , Pages 1111 - 1130. (Abstract or full text in pdf)
"My prediction is we will have predictive medicine in the next 10 to 15 years," said Hood, co-founder and president of the Institute for Systems Biology (ISB). "There are really two dimensions to this. First, if we can do your genome, we’ll look at your genes and write up your probabilistic health history.
"Second, the blood is a wonderful window that gives you a view of how environmental perturbations interacted upon the individual. I think in 7 to 10 years, we’ll be able to use microfluidic approaches and have a little handheld device that takes a small droplet of blood from your thumb and analyzes 10,000 elements in it, and then be able to distinguish between health and disease."
John Russell, Lee Hood Highlights MIT Meeting, Bio-IT World. Feb 19 2004.
Laura Landro, Preventive Medicine Gets More Aggressive; The ‘Health Coach’, WSJ Feb 12 2004. (subscribers only)
"The new approach is called "prospective" rather than "preventive" medicine. It uses patient medical histories to identify people at the greatest risk of developing specific diseases, and takes steps to intervene early to prevent their onset. The key is getting the patient far more involved. It’s really prevention plus personalization: Every patient gets a health risk assessment, a personalized health plan and direct involvement in setting his or her own health goals. One pioneering program even provides "health coaches" and support groups to help carry them out…"
A couple insightful quotes from members of the medical community in the article:
"We have to find a way to raise the value of preventive self-care so people can set priorities for their own health," says Michael Johns, executive vice president for health affairs and director of the Robert W. Woodruff Health Sciences Center at Emory University…"
… "What we are trying to do is be on the leading edge of a change in how health care will be delivered in the next five years," says Ralph Snyderman, Duke’s chancellor for health affairs. "We want to get beyond disease management into a focused, realistic way to have early detection and early intervention — not with a cookie cutter approach to every patient but by tailoring it to the individual."
Landro also mentions a recent paper by two researchers at the Yale School of Medicine, Mary Tinetti and Terri Fried. She summarizes their argument as thus, "doctors must shift their focus from treating disease alone to tailoring treatments to individual patient needs." The article is for subscribers only (or for those willing to shell out a hefty $30), but the abstract is free online. Here is the info:
Mary Tinetti and Terri Fried, The End of the Disease Era. American Journal of Medicine. 116(3):179-185.
"The time has come to abandon disease as the focus of medical care. The changed spectrum of health, the complex interplay of biological and nonbiological factors, the aging population, and the interindividual variability in health priorities render medical care that is centered on the diagnosis and treatment of individual diseases at best out of date and at worst harmful. A primary focus on disease may inadvertently lead to undertreatment, overtreatment, or mistreatment. The numerous strategies that have evolved to address the limitations of the disease model, although laudable, are offered only to a select subset of persons and often further fragment care. Clinical decision making for all patients should be predicated on the attainment of individual goals and the identification and treatment of all modifiable biological and nonbiological factors, rather than solely on the diagnosis, treatment, or prevention of individual diseases. Anticipated arguments against a more integrated and individualized approach range from concerns about medicalization of life problems to “this is nothing new” and “resources would be better spent determining the underlying biological mechanisms.” The perception that the disease model is “truth” rather than a previously useful model will be a barrier as well. Notwithstanding these barriers, medical care must evolve to meet the health care needs of patients in the 21st century."