Which are you more worried about, having a bad reaction to a drug or anesthetic or finding out you have a gene for sudden death? According to an April 29, 2010 Associated Press article by Maria Cheng, AP medical writer, “Doctors use gene sequence to predict health risks,” the price to have your genome tested for health risks is becoming more affordable. What used to cost $50,000 now is approaching more like $1,000, and will be affordable in a few years.
For more information, browse the paperback book: How to Open DNA-Driven Genealogy Reporting & Interpreting Businesses – Applying Your Communications Skills to Popular Health or Ancestry Issues in the News. ISBN: 9780595442782. Nutritionists are interested in a field called nutrigenomics. It’s the study of the effects of foods and food constituents on gene expression.Check out the various sites devoted to nutrigenomics if you’re interested in this type of DNA testing–tailoring your foods to your genes. For example, there is Alpha-Genetics. Also see the site for the Centre for Human Nutrigenomics.
Recently funding has been spent testing the entire genomes of animals as well as doing various other partial gene scans on dogs, cats, and livestock. According to its website, “Centre for Human Nutrigenomics aims at establishing an international center of expertise combining excellent pre-competitive research and high quality (post)graduate training on the interface of genomics, nutrition and human health.”
There’s even a Sacramento regional area local university laboratory for gene testing of animals. According to its website: “The Veterinary Genetics Laboratory at the University of California, Davis is internationally recognized for its expertise in parentage verification and genetic diagnostics for animals. VGL has provided services to breed registries, practitioners, individual owners and breeders since 1955.” The Veterinary Genetics Laboratory performs contracted DNA testing.
In the AP article, Stanford University professor, Stephen Quake had his genome tested to see whether there were warning any signs in his genome, that is, his DNA, for any particular medicine. That way, if he avoided taking a specific medicine, he wouldn’t have a bad reaction in the first place. See the article, Genome Scan Gives Man Insight Into Future Health Risks.
The DNA test for health risk (not like the DNA test for ancestry) combs through your genetic code to look for any risks that is genes that pre-dispose you to diseases such as heart disease, diabetes, or cancer, for starters, and includes how you might react to a variety of drugs.
You can read the results in the latest medical journal published in the May 1, 2010 issue of Lancet. See, “Clinical challenges in the coming whole genome sequence world.” Also see the study’s abstract, “Clinical Assessment Incorporating a Personal Genome.”
The idea that the cost of getting health related genomic information has fallen in the last year. The big problem is how to translate or interpret the findings to the patient. Science still isn’t clear about what the genetic risks will mean and whether they will come to fruition. Or can a patient alter diet and lifestyle and override the bad genes by switching on the little tags on the genes that switch on or off the playing out of the risks in real life? That field to explore is called epigenetics.
So scientists have to conclude that the clinical translation of genetic risk estimates remains unclear. In the study of the professor’s full genome, scientists aimed to undertake an integrated analysis of a complete human genome in a clinical context.
The methods researchers used were to first assess a patient (which happened to be the professor) with a family history of vascular disease and early sudden death. The study’s abstract says, “Clinical assessment included analysis of this patient’s full genome sequence, risk prediction for coronary artery disease, screening for causes of sudden cardiac death, and genetic counselling. Genetic analysis included the development of novel methods for the integration of whole genome and clinical risk.”
Disease and risk analysis focused on prediction of genetic risk of variants associated with Mendelian disease, recognized drug responses, and pathogenicity for novel variants. The scientists looked at disease-specific mutation databases and pharmacogenomics databases to identify genes and mutations with known associations with disease and drug response.
Then the researchers estimated post-test probabilities of disease by applying likelihood ratios derived from integration of multiple common variants to age-appropriate and sex-appropriate pre-test probabilities. We also accounted for gene-environment interactions and conditionally dependent risks.
With all this expensive research in databases, the researchers analyzed 2·6 million single nucleotide polymorphisms and 752 copy number variations showed increased genetic risk for myocardial infarction, type 2 diabetes, and some cancers. What the researchers found were rare variants in three genes that are clinically associated with sudden cardiac death—TMEM43, DSP, and MYBPC3.
Now with this finding, let’s say you have those genes. What do you do–stay away from sports or stressful recreational or work-related duties? Or do you look for ways to override the rare gene variants?
The scientists found a variant in LPA that was consistent with the patient’s family history of coronary artery disease. The patient had a heterozygous null mutation in CYP2C19 suggesting probable clopidogrel resistance, several variants associated with a positive response to lipid-lowering therapy, and variants in CYP4F2 and VKORC1 that suggest he might have a low initial dosing requirement for warfarin. Many variants of uncertain importance were reported.
With all this information, if you were the patient, how would it change your lifestyle or food choices? How would you interpret it? And how many doctors are actually trained to interpret full-sequence genome DNA tests? In the study’s abstract, the scientists concluded that challenges still remain. But the results suggest that “whole genome sequencing can yield useful and clinically relevant information for individual patients.”
Who’s paying for this research? The funding came from the National Institute of General Medical Sciences; National Heart, Lung And Blood Institute; National Human Genome Research Institute; Howard Hughes Medical Institute; National Library of Medicine, Lucile Packard Foundation for Children’s Health; Hewlett Packard Foundation; Breetwor Family Foundation.
If you had a family history of specific, rare diseases or sudden early death, you’d probably assume you inherited the genes for those conditions or perhaps the gene variants for some of them, such as heart disease, but you wouldn’t know which genes you actually inherited, unless you tested for those specific genes.
More than two dozen of Quake’s scientist colleagues combed through his genetic code to assess the Stanford professor’s chances of heart disease, diabetes, cancer and how he might react to common medicines. Would you pay to learn that you’ve inherited the same genes that killed members of your family? Would it matter at what age it occurred?
Having your entire genome tested is what’s called personalized medicine. You have predictive medicine on one hand and personalized medicine on the other. What would you do if you found out you had the genes you feared most?
A genome test is like a map of your DNA. Doctors would love to have a map of your DNA. But could you really get insurance if the genes you feared most of inheriting from a family member, were present? Or could you find a way to override the bad genes?
To date, only seven other people in the world have had their genomes sequenced. Last year, the Stanford professor’s genome was published in the journal, Nature Biotechnology, before it was analyzed for health risks.
The big problem for the average person is interpreting the results. Even most doctors currently aren’t yet trained to tell a patient what the results actually predict. Who can explain what the test means to patients? You call this a gene scan. It’s one more personalized medicine category like a brain scan or an artery scan. Only you’re scanning the genes.
It took months and 30 scientists to pore over the more than 2 million gene variants in the professor’s DNA. What would you do if scientists told you what’s in your genes? Would you take various professional’s advice to get on drugs such as statins or refuse and go on a plant-based diet or some other diet instead?
Is this one more way to sell drugs to patients who have inherited genes that might develop at some point into diseases? Would the drugs be offered to patients in a marketing plan to prevent the diseases? Is this the path personalized medicine will take in the future–more opportunities to push medicines on patients and make money? That would happen when the gene scans become affordable to the average patient.
The price has come down. The first human genome scan cost around three billion dollars. Decoding the professor’s genome cost about $50,000. It’s predicted in the coming years the price would drop to $1,000 for the average patient, more affordable. But is it one more way to sell drugs if you don’t like what you hear about your genes?
Certain types of people will get their DNA mapped. It’s not for those with chronic anxiety. They already know they have the anxiety gene with the short stem or they wouldn’t have so many panic attacks for years. And it’s not for those who already know both their parents and siblings have heart disease or other disorders that are inheritable. They probably know they’ve inherited the gene and need to eat to override the little tags on their genes to avoid falling into the trap.
So who could be helped by a gene scan? Someone who has no idea whether they have a gene for a specific rare disease that always has a specific ending. The information is sensitive. It’s about getting health insurance if big industry finds out what genes you’re hiding.
How do you make sure your gene scan doesn’t fall into the hands of someone you don’t want to have it? It’s supposed to be between you and your doctor only. And what happens if it gets to your insurer or employer? Do you lose your job and health insurance? What’s the law going to say about gene scan information? Does it go into a time capsule to pass on to your descendants? Legislation is needed.
Check out the website of the National Office of Public Health Genomics at the U.S. Centers for Disease Control and Prevention. Scientists can’t really interpret correctly the information with guaranty. The science is in its infancy and is just emerging. The research is not yet completed. It could lead to unnecessary treatments or surgeries. Right now, the facts can’t be interpreted with any definite decisions on what’s really going to happen to you based on your genes. There’s no hundred percent accuracy in this new science.
First ask yourself, what’s the critical medical reason for getting a gene scan? Most scientists know the relationship between your genes and most disease indicators are not yet validated or they are not totally known.
If you get a gene scan and pay all that money, you’re either going to hear how healthy you are or how you’re probably going to leave this world. The gene scan isn’t going to make you happy or tell you what you’re going to excel at, even though there is a gene test of your DNA for athletic ability predisposition. Would you have a gene scan if the price was right?
Or would you simply eat healthier, get some exercise, and let nature take its course? Wouldn’t it be more interesting to scan your genes to find out how many people are related to you? Or would you rather know beforehand what’s going to happen to you as you age. And what if science isn’t that accurate and it doesn’t happen? Either way, it’s about quality versus quantity of life. On the other hand, it’s good to know what medicines you’d have an adverse reaction to before you take them, especially when you visit your dentist.