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Direct-to-Consumer Genetic Analysis and FDA Regulation

Who Decides What You See in Your DNA?


The recently founded company DNA DTC derives its name from its business strategy of offering its genetic analysis services directly to consumers (DTC). The term describes a business approach that many genetic analysis providers adopted over the past 5 years. For example, 23andMe, was a pioneer of this approach to offer genetic analysis directly to any individual rather than coordinating with healthcare providers, like, blood testing or other medical related analysis is done. Is this a problem? Maybe.

Is Notification of a Disease-Related Gene Giving Medical Advice?

As discussed in The Value of Personal Genomic Analysis, personal genetic analysis can be used to determine which diseases you may have a higher risk of developing than the general public, suggest ways you can best maintain your health, and may indicate which treatment options would work best for you if you get certain illnesses.

Personal genetic analysis involves identifying which variations of particular genes an individual has. The specific combinations of variations then need to be assessed relative to current knowledge about how they affect individual traits. Basically, the data require interpretation. Also, results need to be considered in context of an individual’s overall health situation. This sort of advisement would normally be done by licensed healthcare practitioners. At least, that is the opinion of the American Medical Association and the FDA advisory committee set up to look into this business.

The FDA Challenges Genetic DTC Analysis Providers

Following the advisory panel meeting in the spring of 2011, the FDA began sending out advisory letters to companies providing these tests, such as this one sent to Luminex. A European Science advisory committee has similar concerns about how to regulate health related claims of DTC companies, but seems to be taking a more nuanced and less confrontational approach.

Gene Analysis Is Provides Lots of Information

However, individual DNA analysis offers much more potential insight about ourselves than just health related traits. For example, genetics may provide insight about relatively benign traits such as your potential to go bald. Of course, specific DNA variations can tell you where your ancestors originated and comparisons with other people’s DNA can tell you who is biologically related which is the basis of paternity tests. Genetic associations have been found with taste and personality so, in a few more years, it might be possible to suggest foods people may like based or provide matchmaking services based on DNA analysis. Your genetics defines a lot, not just factors that directly influence your health. Why should access to this information be regulated?

Genotyping v. DNA Sequencing

Actually there are two ways personal genetic analysis can be done. One involves genotyping which looks for specific known DNA variations, and other is DNA sequencing, which actually “reads” the A, T, C, G nucleotide code of the DNA.

With genotyping, the company just provides specific results for certain known genetic variations at particular locations in the DNA. For this type of genetic analysis, the FDA could reasonably require regulatory approval for analysis of specific disease-related genotypes, such as the BRCA genetic variations that increase the risk of breast cancer, but allow analysis of genotypes for other traits. In fact, Lumigenix’s response to the FDA advisory letter mentioned above anticipates this sort of regulatory distinction where they specifically note that they do not provide genotype data for diseases with highly predictive genetic links, such as cystic fibrosis, Tay Sachs, breast cancer, Alzheimer’s, or genetic data associated with responses to certain medications.

Direct to consumer DNA sequencing, however, makes this potential regulatory distinction impossible. The core information provided is the nucleotide base sequence. From this basic data, it is possible to identify whatever variations are present for any of the genes included in the sequencing. DNA sequencing data can also be reinterpreted as new research finds new previously unknown genetic associations. Whole genome sequencing provides the DNA nucleotide data for the entire genome—all the genes and related DNA—and contains the information for every DNA variations and individual has.

DNA Sequencing Complicate Regulations

When the FDA started to look into DTC genetic testing, only genotyping was generally available. Genome sequencing for individuals was too expensive for a general service. However, that situation has changed as sequencing costs are coming down. DNA DTC, for example, offers full genome sequencing for just over $5,000 and exome sequencing, which just provides data on the portions of the DNA that have genes, for less than $1,000. 23andMe also had a temporary pilot program to test run an exome sequencing service.

While curtailing genotyping of specific gene variants may be defendable, preventing individuals from having their own DNA sequenced seems much more intrusive. I mean, aren’t people entitled to know their own DNA sequence? That’s certainly Robert Verbruggen’s opinion in his strongly worded rail against the FDA’s “paternalism” in the National Review, and Razib Khan’s view in his rant on Discover Magazine’s website. Still, one state, New York, does already bar DTC genetic analysis.

A New Approach for a New Era

The shifting technology base toward DNA sequencing, and the push back on regulatory barriers to getting one's own DNA analyzed from science bloggers and pundits, creates a difficult situation for regulators. As a result, the FDA has not been able to provide firm regulatory guidance to DTC genetic analysis companies in almost two years and, although discussions continue, the situation seems unlikely to be resolved in the near future.

Actually, though, the broader story is not really so novel. It is simply a case that advances in technology have created a new disruptive business that defies traditional categories. The old regulations don’t really work and it is unclear how to structure new ones that ensure the rights of individuals to take advantage of the latest scientific research while ensuring they get accurate, factual, and unbiased health advice. During this development phase, personal genetics analysis may offer you some insight about yourself, but it is also a case of "let the buyer beware."

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