Accuracy of Genotyping Chips Called into Question

Genotyping chips are used to detect single-nucleotide polymorphisms, the type of DNA used by consumer genetic testing companies to detect variants in a persons genome. These genotyping chips have a false discovery rate of more than 85 percent when screening for rare variants, according to an article from BioRxiv. This finding highlights the danger of direct-to-consumer genetic testing, where customers could “interpret the results at these rare variants literally, without accounting for any possible laboratory errors,” Chiang, a human geneticist at the University of South California Keck School of Medicine, says. “That would be a legitimate concern.”

The chips in which this study came from were supplied by a manufacture named Affymetrix, owned by Thermo Fisher Scientific. They supply their chips to direct-to-consumer companies such as LivingDNA. The companies claim to warn customers not to take their results as a medical diagnosis, but most consumers are not aware of the level of uncertainty in this consumer genetic tests. Other direct-to-consumer companies like 23andMe claim to have a higher accuracy but are still susceptible to false positives in very rare variants.  

An example of a rare variant that may bring about false positives are the BRCA genetic variants. BRCA1 and BRCA2 variants are linked to breast and ovarian cancers, to which there are thousands of known rare variants. The direct-to-consumer companies MyHeritage and 23andMe both announced that they will soon begin providing genetic tests for three variants found on the BRCA1 and BRCA2 genes.

I believe that direct-to-consumer genetic companies are a great way to get the general public interested in genetics and their own genome. It has amazing potential to help people find family and see what part of the world their heritage originates from, but testing for rare genetic variants may still be out of the reach of consumer genetic testing companies. I think that being able to see that if someone has a variant of the BRCA gene would be very helpful in being able to start testing regularly and early to catch any sign of cancer, but with the present rate of false positives in rare variants I believe that we should wait to make this information available to the public until it becomes more accurate.

It's Not a Phase Mom, It's Genetic Testing but Cooler

There is a lot of ways to start this post, but the only way that comes to my mind at this moment is: "really?"  I know everyone loves technology and finding more information about themselves and buying things because "everyone else did," but at some point there is a line and I think we might have found it.  I understand the appeal of getting genetic information at your fingertips with a few month's delay but the fact is, what really is someone going to do with this information?  There has been diseases or genetic alleles found through these testings, but research has shown that these genetic tests don't go as in depth as they should.  There has been reports that results have caused customers to be overly stressed about their health only to find out from a doctor that the alleles that were detected were not dangerous at all.  In addition, most people are unaware of how these tests are being done, let alone how accurate it is.  When these companies started out, they created a database of genes and all the different alleles through their customers and testing groups.  When customers send in their DNA sample, their genes are compared to the people in that database.  While the databases being developed by these companies are continuously growing and advancing, it is still a very low percentage of the entire human population.  Because of this, there is an apparent sampling error in these companies, causing the results to not be as accurate as the companies have made it out to be.  The FDA has even developed the slogan "think before you spit" to warn customers of the accuracy and the benefits they believe the companies will give them.  Right now, the most accurate results someone will be able to get is through doctors who are specialized in genetics.  

Consumer-based genetic testing is what it is: a manipulation of the consumer to buy.  The fact is, most of the information the customers are getting back, they won't even know what to do with.  As a professor from Stockton University has said, we are in a data crisis.  We have developed so many different and new ways to gain more information than we could ever imagine, but we don't even know how to organize or implement it into something meaningful.  All these people buying these tests off of the shelf at their local Target for about $100 a pop probably will not be able to efficiently use the results they're given back.  Sure, a few Tweets and Facebook posts about how they thought they were 100% Italian but then they found out they were 0.00009% French is cool, but then what?

F.D.A. Will Allow 23andMe to Sell Genetic Tests for Disease Risk to Consumers

      A company named 2andMe based in Mountain View, California has long sought the green light to sell consumers genetic tests. The Food and Drug Administration is allowing the company 23andMe to sell genetic test kits to consumers, this will allow them to test for the likelihood that they will inherit genetic diseases such  as Alzheimer's. Currently the companies test only include ten diseases including Parkinson , Celiac disease, Alzheimer's, Gaucher disease type 1, etc.  This landmark decision for the FDA is expected to allow more companies to release tests directly to the consumer. The health kit sold by 23andMe is retailed for $199.00 and is a simple process.

   

    After a customer purchases the kit they then spit into a tube and mail it o the 23andMe headquarters. The companies lab will extract DNA from the saliva and test it against genetic markers for certain diseases. The customer can then log into their account and see the report and its interpretation. Although i believe this is a big step in allowing the public to readily know if they are carrying a disease, i also find man drawbacks. Most who have a family history of illness may want to know right away if they too inherited the disease and with the new technology can know in a matter of days without properly preparing themselves mentally for the news. Once you have received the results there is no unknowing and that could lead to depression. Also the tests could confuse customers as the results do not indicate you have the disease but that you have a higher likelihood.

https://www.nytimes.com/2017/04/06/health/fda-genetic-tests-23andme.html?_r=0

https://techcrunch.com/2017/04/06/23andme-is-finally-allowed-to-tell-you-if-you-have-the-genes-for-parkinsons/

https://www.23andme.com

Genetically Modified Salmon

On November 19^th, 2015 the Food and Drug Administration (FDA) approved the first genetically modified (gmo) animal cleared for human consumption.  AquaBounty initially approached the FDA in the 1900s with no luck. Once approved AquaBounty stated that the fish were safe and ready to eat more than five years ago. Immediately after approval some consumers and environmental groups fiercely opposed to the gmo salmon. Fearing the safety of other species if the engineered fish were to escape into the ocean and rivers. The salmon is expected to grow full size in half the time of a wild salmon. Although it grows very fast it would take approximately two years before it can reach the local supermarkets.

I completely disagree with the approval of gmo salmon. It’s devastating to the population of wild salmon if an engineered salmon were to escape. It will out compete the wild salmon thus eliminating their existence. So what would happen to the people that want to eat wild salmon? There is no way of ever retrieving a species once its outcompeted and extinct. Its also devastating how slowly we’re killing our environment just for the profit. So at the end what is there left if we have destroyed our earth and its species? 

Apples Will No Longer Brown Thanks to Genetics

          Brown apples are now a thing of the past; 2015 brings with it a breed of genetically modified apple that no longer browns when cut or bruised, thanks to the Canadian company Okanagan Specialty Fruits. According to the CNN article announcing the approval of the genetically modified apples, "Scientists working on genetically engineered plants and animals typically add--rather than remove--genes to formulate more desirable variations of their products." The scientists of Okanagan were able to "turn off" the enzyme that typically causes apple to brown after being exposed to the air.
          Ever since the start of the release of genetically modified organisms (GMO's) to the produce market, skeptics have been criticizing the unknown effects that the modified produce could potentially have on our health. For example, the Non-GMO Project has been working to inform consumers about GMO's and how little we know of their effects on human health. Neal Carter, founder and president of Okanagan, however, assures that "these trees produce flowers and fruit of the same composition and analysis [as conventional apples]." GMO's have been, and will continue to be debated upon, as they become more prevalent in markets as they are modified to survive douses of pesticide or to fend off insects. Carter further believes that his company shouldn't be forced to use a GMO label on its apples. "Label it just like any other apple. ... Let the consumer decide."
          I am personally also a skeptic of certain GMO's. Science has made leaps and bounds in terms of making safer, larger, more nutritious produce for the consumer. However, a non-browning apple will never cue us when it is expired. Too much modification in society is a bit overwhelming, and I think that we need to slow down to understand the effects of GMO's before further modifying the products on the market.