What does Estonia hope to gain from DNA testing its citizens?
The country wants to improve the health of its population and be able to prevent or delay disease onset through the identification of those showing genetic risk. If the testing proves successful the plan is to roll out the program to all residents in the country creating a biobank and fully secure information system.
Some question the value of DNA testing a large population group. Others in the program question just how much information should be shared with participants. For example, if disease risk is discovered should the information be sent to the person’s doctor or just to the individual?
Or should the data be anonymized, so that it only generally reflects the population’s health with no individual receiving personal genetic information? Personal data in the hands of insurers could lead to people being denied health coverage.
Some geneticists question the efficacy of telling someone that he or she has a defective gene that may present itself as a disease in the near or far future. Genetics alone doesn’t necessarily mean the person will get sick. Many other factors need to be considered including: where the person lives, environmental conditions both in and out of doors, what kind of work they do, stresses in their lives, pollutant exposure, eating and lifestyle habits, and more.
And being told you have a defective gene may create unneeded anxiety for the person receiving the information.
The 100,000 submitting blood samples will have them analyzed for more than 600,000 variants. Screening for genetic defects associated with high cholesterol, cancers, and heart disease will be a major focus. The testers also hope to screen for rarer diseases associated with defective genes, as well as drug sensitivity to those most commonly prescribed.
Personal DNA testing has become very popular with products like Ancestry DNA and 23andMe. But these are largely recreational pursuits by those who are curious about identifying heritage. Recently, a version of 23andMe aimed at detecting BRCA1 and 2 genes associated with breast, ovarian and prostate cancer risk, was given FDA approval in the U.S. But these DNA tests can produce lots of false positives. If someone gets a positive test it is highly recommended that they seek professional genetic counseling.
The Estonian experiment may equally yield lots of false positives for genetic defects. If so, what was seen as a way to manage healthcare costs better, may backfire as more comprehensive retesting and screening becomes necessary.
When Ebola broke out in West Africa, MinION came to Guinea with health research teams who began sequencing the virus genome. In one test 14 Ebola patients provided samples helping epidemiologists in the field to track to the source of the infectious outbreak. Within 48 hours the team had the results which they could display on laptops running MinKNOW, the software application developed to analyze test samples. MinKNOW results are shared in the cloud making the information accessible to global medical teams helping to fight epidemics such as the one that struck West Africa infecting 26,312 and killing 10,899 as of April 26, 2015.
MinION is a palm-sized gene sequencer developed by Oxford Nanopore Technologies. The company’s head office is in Oxford, UK with manufacturing facilities in Cambridge, Massachusetts. The MinION device comes with a USB plug-in, a software application called MinKNOW, the latter which displays results of sample analysis on a laptop display screen. In the rollout of the technology first adopters have been able to license the technology for a deposit of $1,000 U.S.
This month a biology team from Italy is using MinION to sequence the genome of a rare Tanzanian species of frog. And now potential users are pushing Oxford to port the software app for use on smartphones. As one scientist, Nicholas Loman at University of Birmingham, described it, “this is democratization of sequencing.”
What is the technology behind MinION? Nanopore sensing devices fabricated from synthetic materials such as silicon nitride and silicon dioxide. A nanopore is a nanometer-sized hole that when combined with integrated sensors can measure the properties of a liquid passing through it. The MinION contains a graphene honeycomb lattice containing these nanopores. A mere one atom thick the membrane is so thin that DNA can pass through it and be read by the built-in sensors. This makes it possible to sequence the genome of microbes from bacteria to viruses, and even do in the field partial sequencing of human DNA. The illustration below is an artist depiction of how MinION‘s honeycomb lattice can facilitate coding of DNA.
If Oxford can port its software to smartphones then citizen scientists will suddenly have a tool capable of sampling and sequencing DNA in the field. NASA has plans to send MinION to the International Space Station to test the technology in microgravity. If that works then the next Mars rover may have MinION on board to look for molecular signs of life.
In this age of patient-centered medicine two researchers, Jeffrey Rosenfeld (seen in the image below on the right) and Christopher Mason (to his left) have launched a project, called Genome Liberty, to democratize the genome. What does that mean? They have created a DNA test that identifies how each of us metabolizes commonly prescribed medications. This is a test we can take with us when we go to see our doctor. And since most doctors will readily admit that they don’t understand everything about DNA and drug interactions, represents a breakthrough in medicine of enormous importance.
Doctors have known for years that not all of us respond to prescription medication the same way. I, for one, have problems with morphine. My body just cannot tolerate it. Why? Because I lack the protein vital to instructing my liver enzymes to metabolize the drug.
You see the human body is filled with proteins. Genes use proteins to instruct the body to react to the environment. When you take a prescription medication the gene acts like the bits and bytes in a computer program releasing a chemical set of instructions which in computer vernacular is formatted into proteins. The proteins then circulate through the network that is our body and when the right address is found deliver information to instruct the body to react.
Rosenfeld and Mason have created the Gene-Drug Interaction Test. The test identifies whether you have the appropriate proteins to allow your body to metabolize any of the following commonly prescribed medications:
Abilify
Celexa
Codeine
Coumadin
Dilantin
Estrogen
Haloperidol
Nexium
Plavix
Prilosec
Zocor
What’s involved? You go online, order and pay $99 for your own Gene-Drug Interaction Test. Genome Liberty sends you by mail a saliva collection kit. You follow the instructions to provide a saliva sample which you then send by mail to Genome Liberty’s certified medical laboratory. The lab test looks at your DNA for variations in 11 genes responsible for drug metabolism, the genes that trigger the instructions for enzyme secretions in the liver. They are critical to how your body handles as many as 80 different drugs.
Two weeks after submitting the saliva sample, Genome Liberty sends you the results indicating your body’s response to the commonly prescribed medications for which it tests. In the final report drug dosage recommendations and cautions are provided. This is information you share with your doctor. You also get it on a wallet card and in a smartphone app.
Rosenfeld and Mason have launched a crowdfunding effort to raise $100,000 to get Genome Liberty to market. The money they get will help them to refine the list of genetic markers they will test for, and will help them to get the resources to manage the administration involved in processing test requests and returning results.
The credentials of these two gentlemen are impeccable. Mason is a professor for the Tri-Institutional M.D./Ph.D. program between Cornell University, Memorial Sloan-Kettering Cancer Center and Rockefeller University. Mason also is an appointee for the Weill Cornell Cancer Center, and a fellow of the Yale Law School examining the legal implications of genomics technologies.
Rosenfeld has a Ph.D. from New York University and is an Assistant Professor at Rutgers New Jersey Medical School. He is also a research associate for the American Museum of Natural History and has been spearheading efforts to sequence the genome of under-studied organisms.
When asked why they have created Genome Liberty, Mason stated, “A better understanding of the genetic basis of health and disease can improve the detection, characterization, and treatment of disease that can improve and lengthen lives.” Rosenfeld adds, “My goal for Genome liberty is to allow individuals to have control over their genetic information and to use it to improve their health decisions.”
You can help democratize the genome by assisting these two to raise the money to fund the project. $10 gets you recognition on the donor page of Genome Liberty’s website as well as honorable mention in Facebook and Twitter. Provide a $25 contribution and you get a car magnet you can proudly display. For $36 you will have two questions about genetics answered personally by Mason or Rosenfeld. Pledge $50 and you get a Genome Liberty T-shirt. $75 gets you a Rosenfeld and Mason autographed poster. And $100 lets you pre-order the Genome-Drug Analysis Test and get your own personal report. To check out all the other categories visit the crowdfunding categories page.
The science behind ConnectMyDNA tests 13 genetic markers which appear in your own Gene Ring(TM), a graphical representation of your DNA test results. Each Ring is unique and symbolizes individual profiles which can then be compared to family members, friends and cultural or national groups.
ConnectMyDNA keeps a secure database of DNA profiles and allows you to compare yours to pooled characteristics in Gene Rings from individuals in more than 60 countries.
The promotional pitch on the website sounds like a dating service. Participate in a journey of self-discovery and find out through your DNA why you connect with certain people. Ignoring this somewhat spurious scientific argument, you have to admit that DNA testing never has been cheaper.
How do you go about getting your own Gene Ring? Order online and ConnectMyDNA sends you a collection kit. Use the swab from the kit to collect a tissue sample from the inside of your cheek and mail it back to their secure labs in the United States. The lab will then use the sample to extract your DNA profile and notify you. Log into the secure members only site and get your results. You also get your own Gene Ring, an e-poster showing your personal genetic markers, and your top-10 country connections.
This is not complete DNA genetic map. It is, however, making DNA testing kind of fun and very affordable. If you want to get in on the $29 deal, press the link here.
