NACB - Scientific Shorts
NACB - Scientific Shorts (formerly NACB Blog)
By K.T. Jerry Yeo, PhD

The general public is increasingly interested in the promise of personal genomics for reasons ranging from health concerns to recreation.  This is due to a convergence of web-based social networking and high throughput sequencing, leading to an “explosion” of DTC genomic companies in the past 5 years.  Leading DTC companies market directly to consumers on company websites with slogan like “Gain insight into your traits, from baldness to muscle performance. Discover risk factors for 97 diseases. Know your predicted response to drugs, from blood thinners to coffee. And uncover your ancestral origins.  All for $99 (was formerly $199)”.  A gushing customer testifies regarding how “because he has given his doctor DNA information from 23andMe, he got his diagnosis much faster, and 23andMe saved my life” (  

DTC genomics testing typically involves the submission of a convenient sample (usually saliva) by the consumer by direct mail to a CLIA-certified laboratory (owned or contracted by the DTC company) without a physician’s order.  The sample is then tested for hundreds to millions of single nucleotide polymorphisms (SNPs), many of which have some association with diseases, responses to drugs or traits (phenotypes) that consumer might want to explore.  Currently, except for a small percentage of genetic diseases, most SNP genomics information about gene-trait risk assessment has low predictive power and thus marginal clinical value.  Additionally, risk prediction does not equate to diagnosis. For most common, multigeneic conditions, such as cancer, diabetes, and heart disease, genomic information is only a piece of the complex disease etiology and risk assessment puzzle.   Even with these uncertainties consumers seek information as illustrated in a recent survey by Neumann et al. (1) which showed that 70-88% of the public is willing to pay for genomic tests even if results have no immediate clinical value or utility.  Coupled with the trend of decreasing genomic testing costs and increasing sophistication of DTC companies’ marketing and advertisement, this will inevitably lead to more demand for DTC testing in the future.  A recent report by the US Government Accountability Office highlighted the findings of testing by different DTC labs of the same donor samples produced different genetic results and interpretations, raising the issue of overall reliability or comparability of DTC genomic tests and interpretations.  The design of the tests and the genetic variations detected by each company’s testing are not standardized and thus contribute to the lack of comparability of genotype and interpretations. A genetic expert consulted by GAO stated, "the fact that different companies, using the same samples, predict different directions of risk is telling and is important. It shows that we are nowhere near really being able to interpret [such tests]."  In addition, several DTC companies being surveyed made deceptive marketing and fraudulent claims, e.g. the consumer DNA information can be used for “creating a personalized supplement to cure diseases” (2).

So is easier and greater access to one’s personal genome a good or a harmful practice?  There are many questions that arise currently and no doubt you can think of others:
• Can access to personal genomics empower individuals to take better control of their health & well-being?
• Can interest in personalized genomics facilitate progress and breakthrough in common disease diagnosis and management?
• Will genetic discrimination and loss of privacy arise from DTC testing?
• Will DTC genomics ultimately drive up the cost of healthcare?
• How accurate and reliable are such genetic results and, more importantly, how representative is the database used for the interpretations of whole genome profiling?
• Does access to DTC genomics cause undue anxiety or affect individual behavior?
• What sorts of social and ethical issues arise from someone seeking to understand their genetic makeup and willingness to share his/her genetic information in a social network setting? 
• Is DTC genomics testing (providing clinical information and interpretations) that bypasses the traditional physician-patient relationship considered an “unauthorized practice of medicine”?
• By collecting large databases of genomics information from its customers for data analyses without proper informed consent from institutional review boards, do DTC companies violate federal regulatory guidelines regarding human subjects research?
• Is DTC genomics testing business model a threat to the traditional hospital-based clinical laboratories?

Because of these concerns, there is general consensus among academics and professional medical organizations calling for increased oversight and regulatory control of DTC genomics by the FDA.  And the FDA has responded by issuing many letters to these companies calling for review and justification of the interpretation of their testing claims.  What are your thoughts?  If the cost for a whole genome profile drops to less than $500 would you pay to get your DNA tested by one of these DTC outfits?




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Posted by
On 11/7/2011

I believe that most consumers are completely unaware of specificity, sensitivity, and the potential for making the wrong conclusion. This is true even for routine diagnostics tests. And while I believe that people have the right to know and understand their results, a doctor or PA should be involved. This will not only increase the costs of healthcare, but is likely to do so to a much greater degree than one might anticipate. Not only could people look to their insurance companies to pay - HHS is likely to evaluate and decide that it's 'preventative' and therefore must be free to all. However, unlike birth control, the outcomes are not worth the public having to pay for everyone's desire to have some insight into their genes. We have genetic counseling centers for this and they are staffed with dedicated, knowledgeable, and trained individuals. This comment was approved by the NACBLOG editorial board. Please remember to add your name and affiliation!

Posted by
On 10/24/2011

DTC genomics is a business practice driven primarily by a profit motive. If that is the basic framework, I don't see why consumers shouldn't be allowed to purchase it. I don't see that this is necessarily more risky than, say, purchasing a car or learning about your family's medical history. But if so, profiteering from genomics appears to be yet another piece in the commercialization of medicine generally. And that, I would argue, is not such a healthy thing in the long run. This comment was approved by the NACBLOG editorial board. Please remember to add your name and affiliation!

Posted by
On 10/11/2011

I agree. Unless there's a good specific reason for testing (there might be such a case), results may just lead to worry. And when the results are unreliable that could be destructive without any benefit. This comment was approved by the NACBLOG editorial board. Please remember to add your name and affiliation!

About the Author
K.T. Jerry Yeo, PhD
K.T. Jerry Yeo, PhD 


1) Neumann PJ, Cohen JT, Hammitt JK, et al.  Willingness-to-pay for predictive tests with no immediate treatment implications: a survey of US residents. Health Econ. 2010 Dec 28. DOI: 10.1002/hec.1704
2) Direct-To-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices GAO-10-847T, Jul 22, 2010