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Personal Genomic Tests: Do We Know Enough For Them To Be Beneficial?

Think Before You Spit- a woman looking at a test tube

Campaigns against public spitting in the 19th century were largely driven by concerns about the spread of tuberculosis. However, at the beginning of the 21st century, spitting seems to be making a comeback.  Over the past few years, several companies have begun offering personal genomic tests online to the public. There have been famous images of “spit parties”, where celebrities are seen filling tubes with saliva to ship for DNA testing. Getting information on one’s genes has been promoted as fun, as part of social networking, and as a basis for improving health and preventing disease.

When it comes to spitting to improve one’s health, we say: think before you spit.  Our knowledge of the potential benefits and harms of these tests is incomplete at best.  Despite exciting research advances in genomics of common diseases, there is still much to learn about what this information means and how to use it to prevent disease. A little bit of incomplete or inaccurate information may even be harmful.

There are at least 2 key questions to consider when deciding whether personal genomic tests are worth your spit. Read more »

*This blog post was originally published at Genomics and Health Impact Blog*

Direct-To-Consumer Genetic Tests Tend To Overestimate Disease Risks

While 23andMe brings down the price of consumer genetic tests and builds up relations with big pharma (doesn’t share individual data though), it seems the DTC genetic testing is neither accurate in predictions nor beneficial to individuals according to a study described on Medical News Today.

Working under the supervision of Associate Professor Cecile Janssens, together with researchers from Leiden, The Netherlands, and Boston, USA, Ms Kalf examined the risk predictions supplied by two large DTC companies, deCODEme (Iceland) and 23andMe (USA). They simulated genotype data for 100,000 individuals based on established genotype frequencies and then used the formulas and risk data provided by the companies to obtain predicted risks for eight common multi-factorial diseases – age-related macular degeneration (AMD), atrial fibrillation, celiac disease, Crohn’s disease, heart attack, prostate cancer, and Type 1 and Type 2 diabetes (T2D). Read more »

*This blog post was originally published at ScienceRoll*

Talk To Patients Before Running Tests

The Associated Press ran a provocatively-titled piece recently, “Family health history: ‘best kept secret’ in care”, which noted how a geneticist at the Cleveland Clinic discovered that asking about family members and their history of breast, colon, or prostate cancer was better than simply doing genetic blood testing.

Surprising? Hardly. This is what all medical students are taught. Talk to the patient. Get a detailed history and physical. Lab work and imaging studies are merely tools that can help support or refute a diagnosis. They provide a piece of the puzzle, but always must be considered in the full context of a patient. They alone do not provide the truth. Read more »

*This blog post was originally published at Saving Money and Surviving the Healthcare Crisis*

Curious About Your DNA? Just Stop By Walgreens

I’ve been writing about personal genomics for years. The standard concept of it is that you can order such genetic tests online, send your saliva or buccal swab to the lab where they analyze your DNA, then you can check online what kind of diseases you have elevated or lowered risk for. That’s how Navigenics, 23andMe or Pathway Genomics works. Now Pathway had a major announcement:

San Diego based startup Pathway Genomics announced [May 18th] that it will begin selling its DNA collection kits at Walgreens drugstores beginning in mid-May, for about $20 to $30. Unlike a pregnancy test, users won’t be able to get results immediately. They will have to send in their saliva sample and then go to Pathway’s website to select the particular test they want. Users choose from drug response ($79), which assesses how well an individual can metabolize certain drugs, predicting the best dosage for that person or whether they will be susceptible to certain side effects; pre-pregnancy planning ($179), which determines whether parents carry mutations for serious genetic diseases; health conditions ($179), which assesses risk for a number of conditions, including diabetes, Alzheimer’s, prostate cancer and more; or a combination of all three ($249). The kits won’t be sold in New York because the state’s laws require medical professionals to be involved in this type of testing.

As you may know, I’m not totally against direct-to-consumer genetic testing, but I really would like to see doctors and genetic counselors in this process. I think selling such kits through drugstores can only happen in the U.S. right now. Read more »

*This blog post was originally published at ScienceRoll*

Do You Own Your Genome?

Human Genome

As the costs of sequencing our DNA shrink and the roles of digital media in our lives expand, we will need to understand who (or what) controls the ownership, access and use of our genomic information.

From state regulation to Google to Facebook, who controls the acquisition, transmission and replication of our genomic information and material will become an important battle in the 21st century. Read more »

*This blog post was originally published at Phil Baumann*

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