Posts tagged genotype
Up until now, there has been a big problem in the realm of personalized medicine, with respect to pharmacogenomic analysis, record keeping and access to information. Previously, according to US law, anybody could have access to that information. Meaning: employers and insurance companies could scan your results, or look at your specific genotypes that pre-dispose you to specific illnesses or conditions and discriminate against you for fear of taking on too much risk financially. See my post on ethics of personalized medicine.
As of April 25th, the US House of Representatives voted 420 to 3 in favour of passing the Genetic Information Nondiscrimination Act (GINA), and the senate along with President Bush are expected to approve the act in a few weeks. Undoubtedly, this will be a huge step for the world of personalized medicine. We are already seeing the use of pharmacogenomic markers such as Cytochrome P450 (including the 2C9 and 2D6 variants), warfarin and others that screen for efficacy of drugs such as Herceptin.
It is good timing for this news to come as genotyping is becoming evermore affordable.
Everyone should thank the NHGRI Director Francis Collins for pushing to get this act passed! The act has been shot down twice previously by the senate; hopefully, as the saying goes, the third time will be the charm.
A new machine called OpenArray(TM) from BioTrove, Inc. now allows genomic research to conduct genotyping (SNP) analysis across much larger patient groups.
As described on Traditional Medicine:
Unlike other technologies, which can genotype hundreds of thousands of SNPs in a few patient samples, OpenArray allows researchers to analyze SNPs across tens of thousands of patient samples – dramatically expanding study size and data significance. OpenArray SNP genotyping is also more efficient than previous technology because of its flexible design. A single OpenArray plate holds as few as 16 or as many as 3072 separate assays, which can be run against 48-144 samples per plate. Since the OpenArray NT Imager can process three OpenArray plates at once, it can generate more than 9000 data points in less than 10 minutes, ultimately generating over 100,000 data points per day with a single employee.
This is a huge step forward in genetics research, but we are still awaiting the $1 genomic sequence. Right now we are bordering on the $1000 dollar genome, which was talked about by Michael J. Heller, Ph.D., Departments of Bioengineering/Electrical and Computer Engineering, University of California, San Diego – yesterday at the Cambridge Healthtech Institute’s “Next Generation Sequencing Applications and Cast Studies” conference in San Diego, CA.
If you’re wondering just how competitive this space is, there is a $10 million X-Prize for Genomics that was issued by Craig Venter, for the first team to successfully sequence 100 human genomes in 10 days. Details of the prize are as follows:
The $10 million X PRIZE for Genomics prize purse will be awarded to the first
Team that can build a device and use it to sequence 100 human genomes within 10
days or less, with an accuracy of no more than one error in every 100,000 bases
sequenced, with sequences accurately covering at least 98% of the genome, and at
a recurring cost of no more than $10,000 per genome.
As it seems, the race is on!
Today, I want to highlight a great article I found on the ethical issues in personalized medicine, which is centered around pharmacogenetic information (your specific DNA genotype for a number of specific genes). Firstly, if you want to get up to speed on pharmacogenomics, check out the US government-run Human Genome Project Information site that has some quick Q&A on this topic!
There was an article recently published online by Reagan Kelly, that discusses some ethical issues of personalized medicine, please see some excerpts below:
“Protecting patient privacy is one of the most important things that must be done before ordinary people will be willing to take advantage of individualized medical care, and just about everyone agrees that patient’s have a right to keep details about their health private from most people (even if not from, say, their insurance company or in some cases state or local governments). But how far does that right extend? Does it cover a person’s genetic makeup? That is something that undeniably influences health, and a fair amount of information about what diseases a person has or is at risk for can be extracted from genotype and gene expression information like what would be collected for personalized medicine services. How do you keep that information private and what uses are OK? … Additionally, what about the privacy of other family members? Families share genetic information, and by knowing something about their risk, a person also learns about their relatives’ risks.”
“One of the issues of privacy is also directly related to patient autonomy – the right of a patient to choose what happens to them. The question of what uses of a patient’s data are permissible is not exclusively a question of privacy but also one of autonomy. Is it OK to require a person to allow their data to be used for risk profiling or diagnosis as a condition of performing the service for them?”
“Cost, just like with the policy issues last time, is a significant ethical issue as well. Something like 46 million people are without health insurance today, and many more have insurance plans that cover only the most basic things. How can we provide access to personalized medicine to everyone? Is access for everyone a reasonable goal? Is it an attainable one?”
Please see the full article for more details.
Two recent articles discuss diagnostic and medical imaging technologies that help researchers to identify cancers and look deep within. Another discusses some “preventitive medicine” that has no prevention, only costs.
Headlines indicate that Holographic Images Use Shimmer To Show Cellular Response To Anticancer Drug, and another study demonstrates that PET Imaging Identifies Aggressive Kidney Cancers That Require Surgery. The Holographic imaging research is at the cutting edge of technology, specifically, it is “the first time holography has been used to study the effects of a drug on living tissue,” mentions David D. Nolte. He is the leader of the research group from Purdue.
Some smokers and/or lung cancer candidates have been screened for presence of tumours or micro-tumours in the lungs by multi-detector CT scanners. While the technology found 3 times the amount of tumours than expected, earlier treatments for these patients didn’t yield better results as the mortality rate remained the same. Dr. Peter Bach, who is a lung physician and epidemiologist, and the study’s first author said, “Early detection and additional treatment did not save lives but did subject patients to invasive and possibly unnecessary treatments.”
But, Dr. Bach … you should focus on the fact that you were able to find 3 TIMES the amount of tumours originally predicted. Right now, current treatment regiments don’t allow for an increase in the number of lives saved, but as technology improves and more clinical trials come to market, many of these micro-tumours will be stopped in their tracks by new therapeutics, chemotherapies, cancer-targeting viruses, or perhaps nanoparticles linked to toxins which target tumorigenic tissues. Maybe the process of surgical excision should be rethought; maybe only certain tumours that have a certain genetic profile should be removed early. Genotype the tumour, and THEN deploy the necessary tactics. Don’t just cut out anything that looks like it “could” be fatal, surgeries often have complications and implications for the patient’s health.