Grab for patient records

MEDICAL market research firm AsteRx plans a grab for doctors’ prescribing records with an offer of powerful business intelligence software free to GPs who sign up.

AsteRx managing director Jon Marshall says de-identified patient data provides valuable insight into healthcare trends — including the spread of infectious diseases — for which drug companies, pharmacists and others are prepared to pay.

“We essentially want to build a large network of GPs so that we can provide data that can be called on in times of need,” he said. “If we were extracting data from every GP in Australia, we would be able to track the swine flu, for instance.

“From the data we already collect I can tell you whether there has been an increase in immunisations, or increased incidences of flu, right up to yesterday’s figures.”

Taking a Peek at the Experts’ Genetic Secrets

Is Esther Dyson, the technology venture capitalist who is training to be an astronaut, genetically predisposed to a major heart attack? Does Steven Pinker, the prominent psychologist and author, have a gene variant that raises his risk of Alzheimer’s, which his grandmother suffered from, to greater than 50 percent?

Did Misha Angrist, an assistant professor at Duke University, inherit a high risk of breast cancer, which he may have passed on to his young daughters?

On Monday, they may learn the answers to these and other questions — and, if all goes according to plan, so will everyone else who cares to visit a public Web site, The three are among the first 10 volunteers in the Personal Genome Project, a study at Harvard UniversityMedical School aimed at challenging the conventional wisdom that the secrets of our genes are best kept to ourselves.

The goal of the project, which hopes to expand to 100,000 participants, is to speed medical research by dispensing with the elaborate precautions traditionally taken to protect the privacy of human subjects. The more genetic information can be made open and publicly available, nearly everyone agrees, the faster research will progress.

Microsoft et al to employ IT in ‘ground-breaking’ genetics research

SAN DIEGO – Microsoft, Scripps Health, Affymetrix and Navigenics will launch what the companies say is ground-breaking research to evaluate the impact of personal genetic testing on the health and psyche of a patient. The study will offer genetic scans to up to 10,000 employees, family and friends of Scripps Health system and will measure changes in participants’ behaviors over a 20-year period.

Researchers will use healthcare IT to study genetic variations linked to many diseases. “The study will afford researchers the opportunity to better understand ways to prevent, diagnose and treat disease,”according toMicrosoft officials. “This project represents the largest single opportunity to date for modern genetics to move outside the laboratory and directly to consumers,” saidKevin King, president of Affymetrix. The study follows heated presidential election debates over how to reduce the costs of healthcare through better use of preventive care. It also comes as physicians and stakeholders continue to wrangle over the value and timing of using genetic information to treat patients.

Microsoft Joins Study to Gauge Impact of Genetic Testing

Microsoft is co-sponsoring a study to see if people who undergo genetic testing to identify their risk for developing certain diseases actually change their behavior to mitigate that risk.
San Diego-based research lab Scripps Translational Science Institute (STSI), the study’s main sponsor, will offer genetic scans to up to 10,000 employees, family members and friends of Scripps Health that provide a detailed analysis of their risk for more than 20 health conditions. Scripps Health is a US$2 billion nonprofit community health system also based in San Diego.
The conditions — including diabetes, obesity, heart attack and some forms of cancer — are ones that can be changed or prevented by people’s lifestyle choices. Scripps will then track changes in the participants’ behaviors over 20 years to see if people who learn they are at risk for certain diseases or conditions will actually take preventative measures to avoid them, Microsoft said.

Brin Steps Into Genetic Ethics Debate With Blog Revelation

The inaugural blog post of Google cofounder Sergey Brin contains a revelation that he has a predisposition to a certain type of Parkinson’s disease. The post not only raises awareness, but it also brings up some uncomfortable questions about genetic testing.

Sergey Brin had his own genetic code Googled by his wife’s DNA testing company. The results, revealed in the first posting of the Google (Nasdaq: GOOG) cofounder’s new blog, show that he carries a gene mutation that predisposes him to Parkinson’s disease.

“This leaves me in a rather unique position,” Brin writes in his blog, Too. “I know early in my life something I am substantially predisposed to. I now have the opportunity to adjust my life to reduce those odds (e.g. there is evidence that exercise may be protective against Parkinson’s). I also have the opportunity to perform and support research into this disease long before it may affect me. And, regardless of my own health it can help my family members as well as others.”

Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays

“We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture. We first develop a theoretical framework for detecting an individual’s presence within a mixture, then show, through simulations, the limits associated with our method, and finally demonstrate experimentally the identification of the presence of genomic DNA of specific individuals within a series of highly complex genomic mixtures, including mixtures where an individual contributes less than 0.1% of the total genomic DNA. These findings shift the perceived utility of SNPs for identifying individual trace contributors within a forensics mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination. These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed.”

Tougher Laws Needed to Protect Your Genetic Privacy

In spite of recent legislation, tougher laws are needed to prevent insurers and employers from discriminating on the basis of genetic tests

  • Genetic testing will expand quickly and soon, adding highly targeted data to people’s medical records. As those records go electronic, outsiders will find it increasingly easy to peruse an individual’s health information.
  • Able to uncover private details, health and life insurers could deny coverage to someone with a complex medical condition, and employers could fire or refuse to hire the person to avoid burdening the company health plan.
  • Existing laws offer weak protection at best; legislation is needed to give individuals more control over their own data, to limit unauthorized disclosures by others and to penalize wrongdoers.

Gene Testing Questioned By Regulators

Regulators are cracking down on companies that sell genetic tests directly to consumers, threatening to crimp the growth of one of the hottest sectors of the biotechnology industry.

The California Department of Public Health sent ”cease and desist” letters to 13 genetic testing companies two weeks ago, telling them they could not solicit business from state residents. The companies include the early leaders in the field — 23andMe, Navigenics and deCode Genetics — which are trying to carve out a new business of offering personal genetic information for use in health and lifestyle planning.

Some doctors still cautious of genetic tests

Experts warn some results may not be useful — and others are ‘rubbish’.

WASHINGTON – Everyone’s genes spell out a risk for some disease, and a coming anti-discrimination lawis about to give genetic testing a boost.

But discrimination is just one hurdle. The bigger quandary: Doctors don’t yet know how many of the genetic tests being pushed for dozens of conditions are truly useful — and how many are misleading at best.

“Some of these tests are complete rubbish,” warns Dr. Howard McLeod, a personalized medicine specialist at the University of North Carolina. “The big challenge for a consumer is figuring out which data is real or not without having to go to medical school.”

Experts argue over benefits of genetic testing

A panel of cutting edge experts on healthcare and genetics duked it out at Wednesday’s Bio-IT World’s Sixth Annual Conference over the potential benefits and risks of human genome information in the hands of an individual.
Jeffrey M. Drazen, MD, editor-in-chief of the New England Journal of Medicine, professor at Harvard Medical School and a practicing physician, was skeptical.
Drazen, who co-authored an article published in January’s edition titled “Letting the Genome out of the Bottle – Will We Get Our Wish?” said people are better off sticking to a diet and exercise regimen than getting their genome read.
Drazen was extremely speculative over privacy issues and questioned the benefits of genomic readings before policy and end-use results prove it is useful or safe. “What we have now has promise, but we’re a long way from utility,” he said. “As a physician, I want to see the results.”