Glyn Moody on Googling the Genome

Glyn Moody, author of Digital Code of Life : How Bioinformatics is Revolutionizing Science, Medicine and Business has an article in the Guardian on the possibility of more or less googling your personal genome once the price of sequencing comes within range of the pocketbook.  One could even imagine a service similar to their "news alerts" where individuals are kept abreast of relevant advances in genomic medicine as they occur:

A bioinformatics program running on a PC could easily check our genomes for all genes associated with the autosomal recessive disorders that had been identified so far. Regular software updates downloaded from the internet - like those for anti-virus programs - would keep our search software abreast of the latest medical research.

Genetic testing will morph from a clinical to a computational procedure.  Even though the speed and efficiency of searching through the genome for blemishes might be as painless as running spell checker in a word processor, the disovery of misspellings might not be.  People will be faced with decisions about the types of constraints to place on genome searches.  While some might feel comfortable surfing their genome on their home computer others will undoubtedly want to foreordain, say, that search results include only treatable diseases. 

Moody also points out that privacy will be an issue: Who gets to google my genome besides me?  Employers?  Insurers?  Police?  Family members?      

Glyn Moody, Googling The Genome, The Guardian, April 15 2004.

(Thanks to Kristofer for the pointer)

Medical consumers want to read own medical records

Is there any interest in by medical consumers to read their own medical record?  EHR vendors take note, a recent survey of 4500 adults suggests that they do.  Of those that responded, 36% were "very interested" and 43% were "somewhat interested." 

Continuous Health Monitoring: The Ring Sensor

This month’s MIT Technology Review has a brief mention of a "ring sensor" device being developed by Harry Asada and Phillip Shaltis.  Have a look at the prototype here.  A medical patient wears this ring and it monitors various vital signs such as heart rate, temp, and blood-oxygen concentration.  The device is also wireless enabled, so the data can be sent to another device such as your computer.  Couple this with a toilet that can perform a urinalysis, such as the Glycosuria Checker WELL-U II by Toto, and one can begin to see the front edge of continuous health monitoring.

Consumer-Driven Health Care

Regina Herzlinger is convinced that markets are the key to providing medical consumers what they need: choice, control, and information (CCI).  She is the editor of a new collection of papers entitled Consumer-Driven Health Care: Implications for Providers, Players, and Policy-Makers (Amazon shows publication date to be April 9th).  This book (which I have neither read nor received in the mail yet) promises to update and expand the vision she described in her last book Market-Driven Healthcare (1997).

Here is a recent interview with Herzlinger:
Richard L. Reece M.D. "Herzlinger: From Market-Driven to Consumer-Driven Healthcare" HealthLeaders Magazine. March 15 2004.

Personal Disease Risk: Breast Cancer

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)

Hood on Predictive Medicine

"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.

IBM’s View: Personalized Healthcare 2010

Ok Baek, Theresa Gaffney, Kris Joshi, Dr. Barry Robson, David Rosen, Dr. Cathi Stahlbaum, Ruth Taylor, Pnina Vortman. Executive Brief: Personalized Healthcare 2010. IBM Business Consulting Services. Jan 2004.

"During the past decade, life sciences and information technology began to converge, resulting in significant and life-impacting research – the result with perhaps the highest impact to date being the sequencing of the human genome and its influence on how clinical researchers now investigate methods and molecules that could improve the human condition. Knowledge gained through human genome sequencing is driving recent achievements in genomic, proteomic, molecular biology and bioinformatics. As this decade progresses, next generation medical science technology and capabilities, enabled by increasingly "smarter" information technology, will change the discovery, development and delivery of new treatments even more dramatically. For example, bio-pharmaceutical research will continue to shift from a small, molecule-centered approach to one of stronger biomedical emphasis. This shift will focus on moving from the molecular actions of small molecule compounds toward delivering biologic-based diagnostics and therapeutics. Thus, healthcare will become increasingly personalized as these biologic-based diagnostics and treatments become standard practice."

Read the whole brief (pdf).


Personal Digital Doctor

"Ideally, a patient with an incurable, life-threatening disease such as diabetes would take critical medical measurements at home each day, and immediately get advice from his or her doctor. While that remains impractical, new hope is on the horizon for digital monitoring systems that will help to fill this yawning gap—and to provide clues to each patient’s treatment that no doctor could ever gather manually. This summer, Joslin will partner with Boston startup InterMed Advisors on a trial of one such alternative—a soup-to-nuts home monitoring system for diabetes patients. The InterMed project will combine patient education, daily in-home monitoring of blood glucose levels, and advanced analysis of the wealth of resulting data. It will also alert clinical staff as needed, and provide patients with daily, individualized feedback."

Eric Bender, Your Daily Digital Doctor, Technology Review, Feb 20 2004.

Medical Future

"Richard A. Young imagines a health-care system in which, shortly after a baby is born, doctors take a tiny piece of tissue and test its genes to predict the baby’s future.  "We could explain to you the probability that you’ll have breast cancer in your 40s…or that you’ll have heart disease in your 50s, and–here’s the good part–that before you get there, we can develop therapies to prevent that." "

Carlene Hempel, Scientist hopes to see medical future — and improve it. Boston Globe, Feb 17 2004.

Medical Tourism

"Many people from the developed world come to India for the rejuvenation promised by yoga and ayurvedic massage, but few consider it a destination for hip replacements or brain surgery.  Yet that’s exactly what the government in the Indian state of Maharashtra hopes will happen soon."

Ben Wright, Maharashtra woos medical tourists, BBC Feb 10 2004.

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