It’s really a very simple process. You order the kit online or get your physician to order it for you. You provide a saliva sample which is mailed back to Color Genomics. The results are posted online for your private viewing. You can then connect to a board-certified genetic counselor at Color Genomics who will answer your questions. Color Genomics states that its test provides greater than 99% accuracy.
What genes are involved?
The human genes involved are known as BRCA1 and 2. They produce tumor-suppressing proteins, that is enzymes that serve to repair damage to genetic material in cells. When either gene mutates it means the proteins may no longer do their job of keeping DNA intact.
BRCA1 and 2 mutations are linked to several types of cancer with breast and ovarian the most common. Together they are responsible for almost one-quarter of hereditary breast cancer, and up to 10% of all breast cancer. In terms of ovarian cancer, the mutated genes are linked to 15% of ovarian cancer.
If you have mutated BRCA1 and 2 genes and are young, screening for ovarian and breast cancer is advisable regularly.
BRCA1 and 2 mutations can be inherited from either a male or female parent leaving offspring with a 1 in 2 chance of inheriting the defective genes.
What are the risks of getting breast cancer over a lifetime?
What are the risks of getting ovarian cancer over a lifetime?
Are other cancer risks detectable doing this test?
Does the mutation appear more often to be associated with ethnicity?
What’s in the future for consumer genetic screening?
Color Genomics is one of a number of companies providing predictive genetic testing for consumers. In the past, I have written about 23andMe, a company that provides some key genetic characteristics in a simple saliva test that you receive and send back through the mail. Joining them are a number of other companies including:
These are the leaders in what is a growing trend that one company, Key Market Insights, predicts will be a $5.7 billion business in five years.
Most of these companies focus on genealogy, giving you a sense of your genetic ancestry. They are less about screening for potential genetic mutations that could lead to inheritable diseases.
But there is no doubt that companies offering consumers an ability to screen for genetic risk will be very much a part of regular medical practice within the next few years, another example of the democratizing of medicine in a subject area that less than two decades ago was in its infancy as the first efforts to map the human genome succeeded.
With its two products, LightPath(TM), a stationary camera for imaging tumors, and EnLight(TM), a handheld fiber-optic camera, when combined with injected radioactive dyes, contrast agents to highlight body tissue, a surgeon gets to see what before was only imaged by prior diagnostic scans. In other words, pictures that do not reflect the real-time environment the surgeon faces.
Currently the company has ongoing clinical trials for breast and prostate cancer. The technology is being used in a third clinical trial to address stomach cancers. All trials are in the United Kingdom with plans to introduce the technology into the United States subject to FDA approval.
The immediate benefit to patients – a reduction in secondary surgeries to remove missed cancer which means better outcomes with less likely recurrence and enormous financial savings.
The technology uses Cerenkov Luminescence Imaging (CLI), and commercially available Positron Emission Tomography (PET) imaging agents within the surgical suite during procedures. It is low cost, portable and accurate.
The company in the last month was named as the winner of the Grand Prix prize at the British Engineering Excellence Awards. Speaking on behalf of the awarding body, Eric Wilkinson states, “that an organization that can develop potential life-changing technology deserves special recognition.”
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First Brain Pacemaker Implanted in Alzheimer’s Patients
John Hopkins University is the site of an experiment involving the surgical implantation in patient’s brains of a pacemaker-like device. The implant provides deep brain stimulation. Implants like this have previously been used in cases of Parkinson’s Disease. Based on a preliminary study in 2010 which involved implanting devices in six Alzheimer’s patients at Toronto Western Hospital in Canada, this American trial will involve 40 patients over the next year. The Canadian trial yielded positive results showing increases in glucose metabolism and neuronal activity over a 13-month period. Compare that to decreases found in untreated or drug-treated Alzheimer’s patients. The first implant at John Hopkins was just performed with another scheduled for this month.
SenoSENSE – a New Technology for Breast Cancer Screening Wins Sanofi Pasteur Venture Challenge 2012
Breast cancer is a leading cause of death for women between the ages of 30 and 50. Mammographic screening is the standard tool. Mammography doesn’t necessarily measure whether a woman is at higher risk for breast cancer while at the same time it yields lots of false positives leading to unnecessary biopsies and medical procedure costs. Enter SenoSENSE and the Electrical Breast Densitometer (TM), a non-invasive screening tool that identifies women at elevated risk for developing breast cancer by accurately measuring breast tissue density. Women with dense breasts have a 4 to 6-times greater chance of developing breast cancer. And while a mammogram will show the density of a breast, it is an expensive tool for doing screening for risk. The device developed by SenoSENSE, however, makes it simple for physicians to do screening right in their offices rather than sending the patient to a radiology laboratory. Doctors can immediately see the results and develop an ongoing health strategy for their patient. At an event that I attended in Toronto on December 6, the SenoSENSE Electrical Breast Densitometer was awarded first prize in the Healthcare and Biotechnology Venture Challenge for 2012, recognizing the technology for its contribution to the field and its commercialization potential.
Tiny Transformers are Robots that Join Together and Fold into Countless Shapes
You gotta love the scientists and engineers at the Massachusetts Institute of Technology. They just keep coming up with amazing technology. The latest are millimeter-sized robots, called milli-moteins, that fold in many different forms. Looking like an assortment of rings and strips these complex little robots, design-inspired by the way proteins assemble themselves, join together like the parts in a watch mechanism, or a strand of DNA. Each mini robot has a magnetic motor capable of operating with very little energy input. The current version of the devices assemble sequentially but the inventors see them as reconfiguring into multi-jointed walkers, gears, chains and rings. Smart, strong and programmable, what these scientists have created are the first generation of shape shifters, programmable matter capable of doing many tasks.
The Chinese Space Program is Developing Mini-Earth Bubbles for Space Missions
For Deep Space survival humans have to develop controlled ecological life support systems (CELSS) that are mini-Earths in a bubble. The United States through NASA is also working on CELSS (see image below). Biosphere II, now part of the University of Arizona, was a project that ended up in failure in its attempt to create a self-sustaining mini-Earth.
This month the Astronaut Center of China announced that it had begun experimenting in 2011 with a CELSS, a 300-cubic meter (10,600 cubic feet) cabin designed to simulate a life support system for extraterrestrial bases on locations like the Moon or Mars. The Chinese CELSS is a closed system stocked with air, water, food, plants, microbes and algae. More advanced CELSS are planned to include raising and harvesting animals for meat protein. What kind of animals would work best? One suggestion is fast growing fish, another silkworms, the latter high in protein, fast to reproduce, and utilitarian if you need the silk.
DARPA Awards Molecular Foundry for its Work on Smart Windows
Last month DARPA awarded more than $130 million in funding to cutting-edge research projects focused on energy efficiency. One of these is the Low Cost Solution Processed Universal Smart Window Coatings project. Electrochromic window coating technology responds to changing weather conditions by regulating the amount of light and heat that gets through the glass. The goal is to reduce energy needs from other sources so that passive window light ends up providing much of the heating and cooling. Current elctrochromics are expensive and the materials lack flexibility. The new window coating under development applies a small amount of electricity to the material to vary near infrared light (NIR) transmission through it allowing more in the winter and less in the summer. By integrating the coatings with intelligent control systems, buildings and homes will suddenly have smart windows. The work is a collaboration between Molecular Foundry and Berkeley Lab. The coatings contain a nanocrystal film that changes its properties in the presence of an electrical current.
A Postscript
In the last week Techso Mogro articles started appearing at THE FUTURIST e-magazine blog site, increasing the audience that sees the postings that I and guest authors contribute here. As of December 7, we are approaching 9,000 monthly site visits with the goal to hit the 10,000 mark by the New Year. I thank all of you who read this blog and who have let others know about it. Please keep coming back, commenting on postings, and suggesting new topics.
– Len Rosen
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